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Table 1 Mutations identified in the CMMB. Types of ENU-induced gene mutations identified by TGCE screening of DNA and cDNA templates from 4,000 C57BL/6J mice in the CMMB, and recovery of mutant lines from the cryopreserved sperm by ICSI.

From: Efficient gene-driven germ-line point mutagenesis of C57BL/6J mice

Gene symbola

Amplicon size (bp)

Template (D-DNA C-cDNA)

Number of individuals screenedb

Mbp screened

Mutations identified, (mouse #)c

GenBank accession number

Base mutationd

Amino acid change

Type of mutation

Rederived by ICSI

Mc1r

579

D

1585*

0.917

0

NM_008559

    

Mc1r

446

D

1667*

0.743

1 (1110)

NM_008559

T781C

Phe256Ser

Nonconservative

Yes

Mc1r

527

D

1671*

0.880

1 (997)

AF176016

A115G

Promoter

Promotere

Yes

Zfp111

352

D

1686*

0.593

0

NM_019940

    

Zfp111

327

D

1250*

0.409

1 (803)

NM_019940

G2182A

3' UTR

3' UTRf

Yes

Scnm1

394

D

3641

1.434

0

NM_027013

    

Scnm1

484

D

3400

1.645

1 (1128)

1 (3789)

NM_027013

AC140190

T428C

T19199C

Ile112Thr Intronic

Nonconservative Intron 5g

Yes

Scnm1

372

D

3800

1.414

1 (2364)

NM_027013

A594G

Ser167Ser

Silent

 

Usp29

300

D

3884

1.165

1 (3909)

NM_021323

G1850A

Glu124Lys

Nonconservative

Yes

Usp29

336

D

3544

1.191

1 (1954)

NM_021323

T2933A

Cys485Ser

Conservative

 

Usp29

298

D

3621

1.079

1 (573)

NM_021323

A3516G

Lys679Arg

Conservative

 

Zim1

298

D

2037*

0.607

1 (195)

NM_011769

A808G

Lys176Arg

Conservative

 

Zim1

298

D

3720

1.109

1 (2277)

NM_011769

A1017G

Lys246Glu

Nonconservative

 

Zim1

302

D

3726

1.125

1 (1027)

1 (3119)

NM_011769

NM 011769

T1660A

A1610G

Val460Glu

Gly443Gly

Nonconservative

Silent

 

Zim1

302

D

3801

1.148

0

NM_011769

    

Myd88

429

D

3725

1.598

0

NM_010851

    

Myd88

196

D

3669

0.719

0

NM_010851

    

Myd88

497

D

3739

1.858

1 (364)

NM_010851

G604A

Val175Met

Conservative

 

Myd88

245

D

3836

0.940

1 (1569)

NM_010851

T899A

Ile273Lys

Nonconservative

Yes

Ap2s1

424

D

3754

1.592

0

NM_198613

    

Capsl

372

D

3694

1.374

1 (661)

NT_039618

T418425A

Intronic

Intron 2h

 

Capsl

344

D

2422*

0.833

1 (1813)

NM_029341

G665A

Leu125Leu

Silent

 

Antxr1

419

D

3726

1.560

1 (832)

AC153853

A188590G

Intronic

Intron 1i

 

Antxr1

335

D

3739

1.253

1 (1176)

AC153853

T94846A

Intronic

Intron 4j

 

Antxr1

157

D

3841

0.603

0

NM_054041

    

Antxr1

363

C

714*

0.259

0

NM_054041

    

Antxr1

490

C

728*

0.357

0

NM_054041

    

Antxr1

489

C

718*

0.351

0

NM_054041

    

Ap2a1

510

C

713*

0.364

1 (131)

NM_007458

A1446G

Glu414Gly

Nonconservative

Yes

Ap2a1

543

C

732*

0.397

1 (663)

NM_007458

T796A

Asn197Lys

Nonconservative

Yes

Ap2a1

442

C

729*

0.322

0

NM_007458

    

Ap2a1

531

C

730*

0.388

0

NM_007458

    

Ap2a1

351

C

707*

0.248

0

NM_007458

    

Pak4

503

C

441*

0.222

1 (61)

NM_027470

C1094T

Pro283Ser

Nonconservative

Yes

Pak4

477

C

728*

0.347

0

NM_027470

    

Pak4

459

C

707*

0.325

0

NM_027470

    

Pak4

412

C

728*

0.300

0

NM_027470

    

Pak4

447

C

731*

0.327

0

NM_027470

    

TOTAL

   

31.996

22

     
  1. aMc1r, melanocortin 1 receptor; Zfp111, zinc finger protein 111; Scnm1, sodium channel modifier 1; Usp29, ubiquitin specific protease 29; Zim 1, zinc finger, imprinted 1; Myd88, myeloid differentiation primary response gene 88; Ap2s1, adaptor-related protein complex 2, sigma 1 subunit; Capsl, calcyphosine-like; Antxr1, anthrax toxin receptor 1; Ap2a1, adaptor protein complex AP-2, alpha 1 subunit; Pak4, p21 (CDKN1A)-activated kinase 4
  2. bAsterisk indicates that only a portion of the CMMB was screened for the amplicon
  3. cNumber in parentheses indicates the CMMB animal number in which the mutation was identified
  4. dBases are numbered according to corresponding GenBank accession number and refer to the sense strand
  5. e-681 bp upstream of start codon
  6. f+7 bp downstream of stop codon
  7. gintron 5, +62 bp downstream of end of exon 5
  8. hintron 2, -7 bp upstream of start of exon 3
  9. iintron 1, -33 bp upstream of start of exon 2
  10. jintron 4, +75 bp downstream of end of exon 4
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BMC Genomics

ISSN: 1471-2164

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