Incidental Mutation 'R6520:Rev3l'
ID 521169
Institutional Source Beutler Lab
Gene Symbol Rev3l
Ensembl Gene ENSMUSG00000019841
Gene Name REV3 like, DNA directed polymerase zeta catalytic subunit
Synonyms Sez4, Rev
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6520 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 39608114-39751207 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 39698698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 1065 (N1065I)
Ref Sequence ENSEMBL: ENSMUSP00000131519 (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: N1065I

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000019986
Gene: ENSMUSG00000019841
AA Change: N1065I

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
SMART Domains Protein: ENSMUSP00000115630
Gene: ENSMUSG00000019841

DomainStartEndE-ValueType
Blast:POLBc 1 369 1e-155 BLAST
POLBc 434 805 4.77e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164763
AA Change: N1065I

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000131519
Gene: ENSMUSG00000019841
AA Change: N1065I

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.0%
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T C 11: 23,467,285 (GRCm39) D116G possibly damaging Het
Adam22 C T 5: 8,166,635 (GRCm39) V699M probably damaging Het
Adh7 A G 3: 137,929,771 (GRCm39) Y149C probably damaging Het
Adissp G T 2: 130,989,174 (GRCm39) H111N probably damaging Het
Angptl3 A C 4: 98,926,085 (GRCm39) N405T probably benign Het
Ank3 A G 10: 69,824,217 (GRCm39) H180R probably damaging Het
Apob T A 12: 8,033,124 (GRCm39) I159N probably damaging Het
Arhgap24 T C 5: 103,028,659 (GRCm39) V185A probably benign Het
Atf6 A T 1: 170,695,238 (GRCm39) H11Q probably benign Het
Atxn3 C A 12: 101,900,660 (GRCm39) D208Y probably damaging Het
Brd9 G A 13: 74,090,913 (GRCm39) R273K probably benign Het
Cbfa2t3 T A 8: 123,362,540 (GRCm39) R302W probably benign Het
Ccdc175 C A 12: 72,186,804 (GRCm39) G347C probably damaging Het
Ccdc87 A G 19: 4,891,817 (GRCm39) K770E probably damaging Het
Ccl17 T C 8: 95,537,178 (GRCm39) F27L probably benign Het
Cd3g A T 9: 44,882,613 (GRCm39) probably null Het
Cep350 A G 1: 155,809,082 (GRCm39) V498A probably benign Het
Cfap45 A G 1: 172,368,151 (GRCm39) D381G probably damaging Het
Cfap46 A G 7: 139,194,321 (GRCm39) probably null Het
Cnrip1 T A 11: 17,028,536 (GRCm39) M156K probably damaging Het
Col23a1 T C 11: 51,440,552 (GRCm39) probably null Het
Col4a1 C T 8: 11,269,152 (GRCm39) G933S probably damaging Het
Col5a3 C T 9: 20,685,348 (GRCm39) V1443I unknown Het
Col6a6 T C 9: 105,663,024 (GRCm39) E171G possibly damaging Het
Dennd1a A T 2: 37,851,759 (GRCm39) probably null Het
Dlk2 C T 17: 46,613,438 (GRCm39) T188I probably damaging Het
Dusp8 A G 7: 141,637,418 (GRCm39) I203T probably damaging Het
Eno2 C T 6: 124,744,678 (GRCm39) R56H probably damaging Het
Erich3 A T 3: 154,469,102 (GRCm39) T1185S probably damaging Het
Evi5l A T 8: 4,255,906 (GRCm39) Q575L possibly damaging Het
Fam187a T A 11: 102,776,701 (GRCm39) H168Q possibly damaging Het
Fat2 T A 11: 55,175,814 (GRCm39) E1633V probably damaging Het
Fbln2 G A 6: 91,236,641 (GRCm39) D719N probably damaging Het
Fbn2 A T 18: 58,235,462 (GRCm39) S672T probably damaging Het
Gas8 C G 8: 124,253,213 (GRCm39) A187G probably benign Het
Gm2696 G A 10: 77,672,332 (GRCm39) probably benign Het
Gnl1 A T 17: 36,293,845 (GRCm39) K272M probably benign Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hemgn T G 4: 46,396,466 (GRCm39) K257Q probably damaging Het
Hgsnat T C 8: 26,443,328 (GRCm39) Y474C probably damaging Het
Hoxc4 T C 15: 102,943,380 (GRCm39) S78P probably benign Het
Igkv14-100 T A 6: 68,496,218 (GRCm39) L37Q probably damaging Het
Iqck A T 7: 118,540,854 (GRCm39) K251M probably damaging Het
Itgal A T 7: 126,929,503 (GRCm39) Q1140L probably benign Het
Itpka A G 2: 119,581,259 (GRCm39) R431G probably benign Het
Jade1 A G 3: 41,558,917 (GRCm39) N333D possibly damaging Het
Jmjd7 A G 2: 119,861,800 (GRCm39) H181R probably damaging Het
Jmy A G 13: 93,590,547 (GRCm39) S519P probably benign Het
Klra10 T A 6: 130,252,755 (GRCm39) H173L probably benign Het
Krt72 T G 15: 101,689,481 (GRCm39) I284L probably benign Het
Krt78 C A 15: 101,860,206 (GRCm39) V237F probably benign Het
Mapkapk3 G A 9: 107,134,648 (GRCm39) T296M probably damaging Het
Mcmbp A C 7: 128,314,451 (GRCm39) V255G possibly damaging Het
Mcoln1 T G 8: 3,555,855 (GRCm39) M50R probably damaging Het
Mocos T A 18: 24,799,447 (GRCm39) V227E probably benign Het
Mpeg1 A G 19: 12,439,322 (GRCm39) E260G probably benign Het
Mrc1 A T 2: 14,312,760 (GRCm39) N894I probably damaging Het
Mroh7 A G 4: 106,578,460 (GRCm39) S73P probably benign Het
Myo3a A T 2: 22,404,737 (GRCm39) I690L possibly damaging Het
Naa50 T G 16: 43,979,872 (GRCm39) F87V probably damaging Het
Ndufs6 G T 13: 73,476,471 (GRCm39) T32K probably damaging Het
Nfe2l2 A G 2: 75,506,912 (GRCm39) V396A probably benign Het
Nptn A G 9: 58,551,017 (GRCm39) E348G probably damaging Het
Nsun4 A T 4: 115,901,935 (GRCm39) L177Q probably damaging Het
Or56b1b A G 7: 108,164,046 (GRCm39) *319Q probably null Het
Or8d6 T C 9: 39,853,658 (GRCm39) I34T possibly damaging Het
Or8k36-ps1 A G 2: 86,437,462 (GRCm39) L151P unknown Het
Plekha7 A G 7: 115,763,717 (GRCm39) V233A probably benign Het
Polq C A 16: 36,880,739 (GRCm39) Q968K possibly damaging Het
Prmt7 C T 8: 106,961,516 (GRCm39) T143M probably damaging Het
Ptprc G A 1: 138,007,881 (GRCm39) Q886* probably null Het
Rbp7 C A 4: 149,537,371 (GRCm39) V36L possibly damaging Het
Scamp5 A T 9: 57,354,489 (GRCm39) probably null Het
Sec16a A G 2: 26,316,118 (GRCm39) S1698P probably damaging Het
Spr C A 6: 85,114,474 (GRCm39) R85L probably benign Het
Sptlc2 A C 12: 87,402,436 (GRCm39) N163K probably benign Het
Stk10 C T 11: 32,538,839 (GRCm39) T226M probably damaging Het
Sv2c A G 13: 96,123,229 (GRCm39) Y415H probably benign Het
Tet1 A G 10: 62,715,792 (GRCm39) M1T probably null Het
Tnnt1 T A 7: 4,512,060 (GRCm39) K150* probably null Het
Trappc10 C T 10: 78,037,287 (GRCm39) V839M probably benign Het
Ubap2 T C 4: 41,195,155 (GRCm39) N1131S probably damaging Het
Upk2 T C 9: 44,364,803 (GRCm39) E132G probably damaging Het
Vmn2r117 A T 17: 23,679,193 (GRCm39) V677D probably damaging Het
Vps13a A T 19: 16,702,943 (GRCm39) L670H probably damaging Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Zfp512 G A 5: 31,623,984 (GRCm39) R67H probably damaging Het
Zfp804b T A 5: 6,819,283 (GRCm39) H1260L probably damaging Het
Zzef1 C A 11: 72,716,891 (GRCm39) N360K probably damaging 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
R0523:Rev3l UTSW 10 39,724,045 (GRCm39) missense probably benign 0.02
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
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'- ACCTCATCCCATGGAAATCGG -3'
(R):5'- GATTCCTTTTCTGCAGCAGC -3'

Sequencing Primer
(F):5'- ATGTCTAAAAAGTTGCCCCCTG -3'
(R):5'- GCAGCAGCCATAATTTCTTCAG -3'
Posted On 2018-06-06