Incidental Mutation 'R0523:Rev3l'
ID 48721
Institutional Source Beutler Lab
Gene Symbol Rev3l
Ensembl Gene ENSMUSG00000019841
Gene Name REV3 like, DNA directed polymerase zeta catalytic subunit
Synonyms Sez4, Rev
MMRRC Submission 038716-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0523 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 39608114-39751207 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 39724045 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 785 (V785A)
Ref Sequence ENSEMBL: ENSMUSP00000115630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019986] [ENSMUST00000131186] [ENSMUST00000139803] [ENSMUST00000164763]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000019986
AA Change: V2659A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000019986
Gene: ENSMUSG00000019841
AA Change: V2659A

DomainStartEndE-ValueType
Pfam:DNA_pol_B_exo1 43 201 1.6e-10 PFAM
low complexity region 494 506 N/A INTRINSIC
low complexity region 959 969 N/A INTRINSIC
low complexity region 1042 1057 N/A INTRINSIC
low complexity region 1205 1216 N/A INTRINSIC
low complexity region 1424 1440 N/A INTRINSIC
low complexity region 1569 1595 N/A INTRINSIC
Blast:POLBc 1825 2243 1e-163 BLAST
PDB:4GK5|D 1863 1895 4e-13 PDB
POLBc 2308 2783 5.32e-105 SMART
Blast:POLBc 2860 2926 2e-14 BLAST
Pfam:zf-C4pol 3034 3103 8.2e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131186
Predicted Effect probably benign
Transcript: ENSMUST00000139803
AA Change: V785A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000115630
Gene: ENSMUSG00000019841
AA Change: V785A

DomainStartEndE-ValueType
Blast:POLBc 1 369 1e-155 BLAST
POLBc 434 805 4.77e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164763
AA Change: V2659A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000131519
Gene: ENSMUSG00000019841
AA Change: V2659A

DomainStartEndE-ValueType
Pfam:DNA_pol_B_exo1 43 200 1.3e-11 PFAM
low complexity region 494 506 N/A INTRINSIC
Pfam:DUF4683 745 1132 1.7e-162 PFAM
low complexity region 1205 1216 N/A INTRINSIC
low complexity region 1424 1440 N/A INTRINSIC
low complexity region 1569 1595 N/A INTRINSIC
Blast:POLBc 1825 2243 1e-163 BLAST
PDB:4GK5|D 1863 1895 4e-13 PDB
POLBc 2308 2783 5.32e-105 SMART
Blast:POLBc 2860 2926 2e-14 BLAST
Pfam:zf-C4pol 3034 3102 6.1e-15 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene represents the catalytic subunit of DNA polymerase zeta, which functions in translesion DNA synthesis. The encoded protein can be found in mitochondria, where it protects DNA from damage. Defects in this gene are a cause of Mobius syndrome. [provided by RefSeq, Jan 2017]
PHENOTYPE: Nullizygous mice exhibit complete embryonic lethality and abnormal embryonic tissue morphology with widespread degeneration and cell death. Mice carrying the amino acid substitution of phenylalanine for leucine at position 2610 display alterations in somatic hypermutation frequency and specificity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,535,289 (GRCm39) D807G possibly damaging Het
Actl9 T A 17: 33,652,323 (GRCm39) W128R probably damaging Het
Aggf1 T C 13: 95,492,924 (GRCm39) I562V probably damaging Het
Ano3 T A 2: 110,715,200 (GRCm39) E79D probably benign Het
Apobec1 T A 6: 122,558,504 (GRCm39) I84F probably damaging Het
Atp6v1b2 T C 8: 69,562,637 (GRCm39) F458L possibly damaging Het
Bco2 A T 9: 50,445,926 (GRCm39) V490E probably damaging Het
Catsperg1 G A 7: 28,884,615 (GRCm39) probably benign Het
Cdc37 T C 9: 21,054,292 (GRCm39) K111R probably damaging Het
Cfap54 T C 10: 92,744,745 (GRCm39) probably benign Het
Cfap91 G A 16: 38,148,736 (GRCm39) P231S probably damaging Het
Cplane1 T A 15: 8,223,870 (GRCm39) Y878N probably damaging Het
Cpox T A 16: 58,495,608 (GRCm39) C308* probably null Het
Cracdl A T 1: 37,683,710 (GRCm39) M1K probably null Het
Ctnna3 T G 10: 64,511,688 (GRCm39) M626R probably damaging Het
Cyp2c68 T C 19: 39,727,873 (GRCm39) E93G probably benign Het
Cyp2s1 G A 7: 25,505,475 (GRCm39) R330W probably damaging Het
Diaph1 C T 18: 37,989,553 (GRCm39) V860I possibly damaging Het
Dicer1 A G 12: 104,668,750 (GRCm39) S1311P probably damaging Het
Dpyd G A 3: 118,692,852 (GRCm39) R332K probably benign Het
E130308A19Rik G A 4: 59,719,716 (GRCm39) R416H probably damaging Het
Eef1d T C 15: 75,775,005 (GRCm39) D218G probably benign Het
Eif2ak1 T C 5: 143,818,984 (GRCm39) V215A probably damaging Het
Eif2ak4 T C 2: 118,272,577 (GRCm39) probably null Het
Fcrl5 T C 3: 87,365,099 (GRCm39) S583P possibly damaging Het
Garin5b A G 7: 4,762,392 (GRCm39) S246P possibly damaging Het
Grid2ip C A 5: 143,358,798 (GRCm39) Q29K possibly damaging Het
Htr1f A T 16: 64,746,262 (GRCm39) N343K probably damaging Het
Hvcn1 T C 5: 122,354,428 (GRCm39) probably null Het
Igf2r T C 17: 12,910,951 (GRCm39) I1956V probably benign Het
Impdh2 A T 9: 108,439,018 (GRCm39) probably null Het
Impdh2 C T 9: 108,439,019 (GRCm39) T96I possibly damaging Het
Lactb C G 9: 66,877,974 (GRCm39) G285A probably benign Het
Lrrc43 T C 5: 123,639,305 (GRCm39) S445P probably damaging Het
Mapk12 T G 15: 89,019,848 (GRCm39) M120L probably benign Het
Mroh8 C G 2: 157,065,956 (GRCm39) A669P probably damaging Het
Mrpl38 A C 11: 116,022,844 (GRCm39) H373Q probably benign Het
Myocd A G 11: 65,071,728 (GRCm39) V740A probably damaging Het
Naprt A G 15: 75,764,314 (GRCm39) F300S probably damaging Het
Ncam2 T C 16: 81,258,531 (GRCm39) I271T probably damaging Het
Nek4 A G 14: 30,701,995 (GRCm39) T582A probably benign Het
Notch2 G A 3: 98,018,914 (GRCm39) R692H probably benign Het
Notch2 C T 3: 97,978,286 (GRCm39) T89I probably benign Het
Nt5c3 A T 6: 56,860,666 (GRCm39) N296K probably damaging Het
Nt5c3b T A 11: 100,327,036 (GRCm39) I87F probably damaging Het
Oas3 T C 5: 120,904,209 (GRCm39) Q555R unknown Het
Or2ag17 A G 7: 106,389,533 (GRCm39) V225A probably damaging Het
Or5p69 A T 7: 107,967,438 (GRCm39) H247L probably damaging Het
Or9g19 T A 2: 85,600,273 (GRCm39) S43T probably benign Het
P3h1 C A 4: 119,098,727 (GRCm39) Q410K probably benign Het
Pax3 A G 1: 78,172,078 (GRCm39) V44A possibly damaging Het
Pde1c T A 6: 56,151,926 (GRCm39) L252F probably damaging Het
Pdzd7 T A 19: 45,024,529 (GRCm39) T497S probably benign Het
Piezo2 T C 18: 63,155,552 (GRCm39) T253A probably damaging Het
Pipox T C 11: 77,782,965 (GRCm39) E79G probably damaging Het
Pole G T 5: 110,451,459 (GRCm39) M829I probably damaging Het
Ppp1r12c A T 7: 4,492,771 (GRCm39) L156Q probably damaging Het
Psme2b T G 11: 48,836,609 (GRCm39) T113P probably damaging Het
Ptprq A G 10: 107,416,081 (GRCm39) I1739T possibly damaging Het
Qser1 T C 2: 104,620,021 (GRCm39) T174A probably damaging Het
Rcor3 T G 1: 191,814,736 (GRCm39) D81A probably damaging Het
Rnf11 T C 4: 109,314,119 (GRCm39) D90G probably benign Het
Sh3tc1 GCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCC 5: 35,881,410 (GRCm39) probably benign Het
Smad2 T A 18: 76,395,623 (GRCm39) S21T probably benign Het
Smc4 A G 3: 68,933,221 (GRCm39) D639G probably damaging Het
Smtn A T 11: 3,474,664 (GRCm39) S716T possibly damaging Het
Smug1 G T 15: 103,064,136 (GRCm39) Q262K probably benign Het
Sspo G T 6: 48,428,794 (GRCm39) G403V probably benign Het
Tas2r131 A G 6: 132,934,414 (GRCm39) F132L possibly damaging Het
Tgm3 T C 2: 129,886,582 (GRCm39) probably null Het
Tigd2 C T 6: 59,187,358 (GRCm39) T75M probably benign Het
Tnfrsf13b T C 11: 61,038,413 (GRCm39) V232A probably benign Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trim47 A G 11: 115,998,716 (GRCm39) L301S probably damaging Het
Trim75 G A 8: 65,436,442 (GRCm39) H3Y probably benign Het
Trp53bp1 C A 2: 121,082,349 (GRCm39) A317S probably null Het
Tsbp1 G T 17: 34,664,473 (GRCm39) probably null Het
Ttc29 G C 8: 79,003,466 (GRCm39) L227F probably benign Het
Ttc39d G A 17: 80,523,886 (GRCm39) D182N possibly damaging Het
Ttll10 T A 4: 156,129,818 (GRCm39) R164* probably null Het
Ufsp2 T A 8: 46,449,780 (GRCm39) D447E probably benign Het
Ugt2b37 T A 5: 87,399,691 (GRCm39) L272F possibly damaging Het
Vps13b T C 15: 35,472,196 (GRCm39) V833A probably benign Het
Zbbx T C 3: 74,989,165 (GRCm39) T308A probably benign Het
Zfp933 G A 4: 147,910,919 (GRCm39) Q226* probably null Het
Other mutations in Rev3l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Rev3l APN 10 39,682,965 (GRCm39) missense probably benign
IGL00815:Rev3l APN 10 39,735,149 (GRCm39) missense possibly damaging 0.79
IGL00964:Rev3l APN 10 39,740,802 (GRCm39) missense probably benign 0.39
IGL01765:Rev3l APN 10 39,704,261 (GRCm39) missense probably benign 0.00
IGL01792:Rev3l APN 10 39,699,336 (GRCm39) missense probably benign
IGL01950:Rev3l APN 10 39,697,153 (GRCm39) missense probably damaging 1.00
IGL01963:Rev3l APN 10 39,698,733 (GRCm39) missense possibly damaging 0.90
IGL02089:Rev3l APN 10 39,701,095 (GRCm39) missense probably damaging 1.00
IGL02288:Rev3l APN 10 39,704,212 (GRCm39) missense probably benign
IGL02381:Rev3l APN 10 39,697,342 (GRCm39) missense possibly damaging 0.83
IGL02409:Rev3l APN 10 39,697,144 (GRCm39) missense possibly damaging 0.75
IGL02434:Rev3l APN 10 39,698,587 (GRCm39) missense probably damaging 1.00
IGL02570:Rev3l APN 10 39,724,009 (GRCm39) missense possibly damaging 0.68
IGL02581:Rev3l APN 10 39,697,277 (GRCm39) missense probably benign 0.10
IGL02654:Rev3l APN 10 39,738,730 (GRCm39) missense probably damaging 1.00
IGL02720:Rev3l APN 10 39,698,391 (GRCm39) nonsense probably null
IGL02746:Rev3l APN 10 39,700,585 (GRCm39) missense probably damaging 0.99
IGL02829:Rev3l APN 10 39,701,236 (GRCm39) missense probably damaging 1.00
IGL02961:Rev3l APN 10 39,703,941 (GRCm39) missense possibly damaging 0.65
IGL02974:Rev3l APN 10 39,738,743 (GRCm39) nonsense probably null
IGL03029:Rev3l APN 10 39,704,482 (GRCm39) missense probably benign 0.34
IGL03153:Rev3l APN 10 39,682,874 (GRCm39) missense probably damaging 1.00
IGL03172:Rev3l APN 10 39,700,786 (GRCm39) missense probably benign 0.10
R0068:Rev3l UTSW 10 39,700,827 (GRCm39) missense possibly damaging 0.68
R0068:Rev3l UTSW 10 39,700,827 (GRCm39) missense possibly damaging 0.68
R0153:Rev3l UTSW 10 39,750,124 (GRCm39) nonsense probably null
R0308:Rev3l UTSW 10 39,700,890 (GRCm39) missense probably benign 0.09
R0355:Rev3l UTSW 10 39,693,282 (GRCm39) missense probably damaging 1.00
R0513:Rev3l UTSW 10 39,704,139 (GRCm39) missense probably benign 0.00
R0559:Rev3l UTSW 10 39,700,483 (GRCm39) missense probably damaging 1.00
R0761:Rev3l UTSW 10 39,750,191 (GRCm39) missense probably benign 0.32
R1023:Rev3l UTSW 10 39,708,635 (GRCm39) missense probably damaging 1.00
R1159:Rev3l UTSW 10 39,727,921 (GRCm39) nonsense probably null
R1398:Rev3l UTSW 10 39,697,579 (GRCm39) missense probably benign 0.05
R1478:Rev3l UTSW 10 39,659,329 (GRCm39) critical splice donor site probably null
R1517:Rev3l UTSW 10 39,714,439 (GRCm39) missense probably benign 0.34
R1527:Rev3l UTSW 10 39,698,818 (GRCm39) missense probably damaging 1.00
R1635:Rev3l UTSW 10 39,682,658 (GRCm39) missense probably damaging 0.98
R1695:Rev3l UTSW 10 39,700,612 (GRCm39) missense probably damaging 0.97
R1695:Rev3l UTSW 10 39,700,611 (GRCm39) nonsense probably null
R1782:Rev3l UTSW 10 39,675,881 (GRCm39) missense probably benign
R1815:Rev3l UTSW 10 39,698,867 (GRCm39) missense probably benign 0.41
R1818:Rev3l UTSW 10 39,704,420 (GRCm39) missense probably benign 0.05
R2039:Rev3l UTSW 10 39,700,440 (GRCm39) missense probably damaging 1.00
R2071:Rev3l UTSW 10 39,700,349 (GRCm39) missense probably benign 0.17
R2101:Rev3l UTSW 10 39,704,092 (GRCm39) missense probably benign 0.00
R2141:Rev3l UTSW 10 39,724,045 (GRCm39) missense probably benign 0.02
R2883:Rev3l UTSW 10 39,701,152 (GRCm39) missense probably damaging 1.00
R3787:Rev3l UTSW 10 39,722,206 (GRCm39) missense probably damaging 0.97
R3910:Rev3l UTSW 10 39,696,552 (GRCm39) missense probably damaging 1.00
R3912:Rev3l UTSW 10 39,696,552 (GRCm39) missense probably damaging 1.00
R3913:Rev3l UTSW 10 39,696,552 (GRCm39) missense probably damaging 1.00
R4590:Rev3l UTSW 10 39,682,929 (GRCm39) missense probably damaging 1.00
R4631:Rev3l UTSW 10 39,704,412 (GRCm39) missense probably benign 0.44
R4633:Rev3l UTSW 10 39,722,182 (GRCm39) missense probably damaging 1.00
R4707:Rev3l UTSW 10 39,699,393 (GRCm39) missense probably damaging 0.99
R4724:Rev3l UTSW 10 39,722,802 (GRCm39) nonsense probably null
R4810:Rev3l UTSW 10 39,699,721 (GRCm39) missense probably benign 0.01
R4857:Rev3l UTSW 10 39,714,455 (GRCm39) missense probably damaging 1.00
R4882:Rev3l UTSW 10 39,697,456 (GRCm39) missense possibly damaging 0.89
R4928:Rev3l UTSW 10 39,699,981 (GRCm39) missense probably benign 0.30
R4970:Rev3l UTSW 10 39,699,326 (GRCm39) missense probably benign 0.00
R4977:Rev3l UTSW 10 39,699,574 (GRCm39) missense possibly damaging 0.80
R5112:Rev3l UTSW 10 39,699,326 (GRCm39) missense probably benign 0.00
R5261:Rev3l UTSW 10 39,722,725 (GRCm39) missense probably damaging 1.00
R5419:Rev3l UTSW 10 39,700,927 (GRCm39) missense possibly damaging 0.95
R5570:Rev3l UTSW 10 39,728,071 (GRCm39) critical splice donor site probably null
R5628:Rev3l UTSW 10 39,698,963 (GRCm39) missense probably damaging 0.98
R5689:Rev3l UTSW 10 39,670,954 (GRCm39) missense probably damaging 1.00
R5781:Rev3l UTSW 10 39,699,089 (GRCm39) missense probably benign 0.00
R5829:Rev3l UTSW 10 39,682,902 (GRCm39) missense probably damaging 0.97
R5984:Rev3l UTSW 10 39,618,685 (GRCm39) intron probably benign
R5990:Rev3l UTSW 10 39,699,807 (GRCm39) missense probably benign 0.17
R6054:Rev3l UTSW 10 39,700,146 (GRCm39) missense probably benign 0.01
R6171:Rev3l UTSW 10 39,738,709 (GRCm39) nonsense probably null
R6220:Rev3l UTSW 10 39,698,775 (GRCm39) missense probably damaging 1.00
R6520:Rev3l UTSW 10 39,698,698 (GRCm39) missense probably benign 0.06
R6798:Rev3l UTSW 10 39,730,759 (GRCm39) missense probably damaging 1.00
R6811:Rev3l UTSW 10 39,706,917 (GRCm39) nonsense probably null
R6812:Rev3l UTSW 10 39,699,544 (GRCm39) missense probably benign
R6904:Rev3l UTSW 10 39,697,477 (GRCm39) missense probably benign
R6905:Rev3l UTSW 10 39,693,323 (GRCm39) missense probably benign 0.18
R6938:Rev3l UTSW 10 39,738,706 (GRCm39) missense probably damaging 1.00
R7037:Rev3l UTSW 10 39,727,971 (GRCm39) missense probably damaging 1.00
R7124:Rev3l UTSW 10 39,698,163 (GRCm39) nonsense probably null
R7286:Rev3l UTSW 10 39,699,601 (GRCm39) missense probably damaging 0.99
R7385:Rev3l UTSW 10 39,699,678 (GRCm39) missense probably benign 0.01
R7575:Rev3l UTSW 10 39,697,441 (GRCm39) missense possibly damaging 0.56
R7596:Rev3l UTSW 10 39,697,534 (GRCm39) missense probably damaging 1.00
R7597:Rev3l UTSW 10 39,698,880 (GRCm39) missense probably damaging 1.00
R7670:Rev3l UTSW 10 39,712,718 (GRCm39) missense probably benign 0.01
R7804:Rev3l UTSW 10 39,699,481 (GRCm39) missense probably benign 0.34
R7818:Rev3l UTSW 10 39,699,898 (GRCm39) missense possibly damaging 0.54
R7874:Rev3l UTSW 10 39,698,491 (GRCm39) missense possibly damaging 0.72
R7991:Rev3l UTSW 10 39,739,734 (GRCm39) missense possibly damaging 0.52
R8059:Rev3l UTSW 10 39,719,491 (GRCm39) missense probably damaging 1.00
R8174:Rev3l UTSW 10 39,735,111 (GRCm39) missense probably damaging 1.00
R8187:Rev3l UTSW 10 39,682,693 (GRCm39) missense probably benign
R8299:Rev3l UTSW 10 39,697,537 (GRCm39) missense probably benign 0.01
R8352:Rev3l UTSW 10 39,698,899 (GRCm39) missense probably damaging 1.00
R8452:Rev3l UTSW 10 39,698,899 (GRCm39) missense probably damaging 1.00
R8468:Rev3l UTSW 10 39,703,987 (GRCm39) missense probably damaging 0.99
R8487:Rev3l UTSW 10 39,682,844 (GRCm39) missense probably damaging 1.00
R8512:Rev3l UTSW 10 39,697,534 (GRCm39) missense probably damaging 1.00
R8554:Rev3l UTSW 10 39,682,838 (GRCm39) missense probably benign 0.12
R8702:Rev3l UTSW 10 39,714,465 (GRCm39) nonsense probably null
R8848:Rev3l UTSW 10 39,722,705 (GRCm39) missense probably damaging 0.99
R8857:Rev3l UTSW 10 39,670,965 (GRCm39) nonsense probably null
R8870:Rev3l UTSW 10 39,738,786 (GRCm39) missense probably damaging 1.00
R9094:Rev3l UTSW 10 39,700,809 (GRCm39) missense probably benign
R9175:Rev3l UTSW 10 39,730,764 (GRCm39) missense possibly damaging 0.83
R9286:Rev3l UTSW 10 39,682,947 (GRCm39) missense possibly damaging 0.54
R9299:Rev3l UTSW 10 39,723,999 (GRCm39) missense probably damaging 1.00
R9307:Rev3l UTSW 10 39,693,149 (GRCm39) missense probably benign 0.01
R9337:Rev3l UTSW 10 39,698,850 (GRCm39) missense probably benign 0.40
R9342:Rev3l UTSW 10 39,697,458 (GRCm39) missense probably benign
R9389:Rev3l UTSW 10 39,698,967 (GRCm39) missense possibly damaging 0.47
R9395:Rev3l UTSW 10 39,735,219 (GRCm39) critical splice donor site probably null
R9458:Rev3l UTSW 10 39,659,247 (GRCm39) missense probably damaging 1.00
R9481:Rev3l UTSW 10 39,701,033 (GRCm39) missense probably benign
R9646:Rev3l UTSW 10 39,698,440 (GRCm39) missense probably damaging 1.00
R9686:Rev3l UTSW 10 39,743,384 (GRCm39) missense possibly damaging 0.67
X0022:Rev3l UTSW 10 39,704,603 (GRCm39) critical splice donor site probably null
Z1088:Rev3l UTSW 10 39,700,314 (GRCm39) missense probably benign 0.41
Predicted Primers PCR Primer
(F):5'- GTACTGCCACTTAGAAATGCTTGTTTGG -3'
(R):5'- GTAGATGCCATAGACACGCACTCC -3'

Sequencing Primer
(F):5'- aggacagccaggactacac -3'
(R):5'- CCCCTCAATAGCTCATTAGTTAAATC -3'
Posted On 2013-06-12