Incidental Mutation 'R5990:Rev3l'
ID 481954
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 044170-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5990 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 39732118-39875211 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 39823811 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 1435 (S1435A)
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: S1435A

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000019986
Gene: ENSMUSG00000019841
AA Change: S1435A

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 noncoding transcript
Transcript: ENSMUST00000145333
Predicted Effect probably benign
Transcript: ENSMUST00000164763
AA Change: S1435A

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000131519
Gene: ENSMUSG00000019841
AA Change: S1435A

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 0.0648 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.2%
Validation Efficiency 99% (77/78)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik A T 10: 76,449,289 (GRCm38) M11L probably benign Het
Acad10 A G 5: 121,645,405 (GRCm38) L319P probably damaging Het
Adam12 C A 7: 133,931,736 (GRCm38) C471F probably damaging Het
Arfgef1 A G 1: 10,172,921 (GRCm38) Y1065H probably damaging Het
Atp8b3 G A 10: 80,525,697 (GRCm38) T797M possibly damaging Het
Auts2 G A 5: 131,476,895 (GRCm38) probably benign Het
AW209491 C T 13: 14,637,780 (GRCm38) A406V probably benign Het
Ccdc146 A G 5: 21,318,182 (GRCm38) S286P probably benign Het
Chsy3 GT G 18: 59,176,166 (GRCm38) 163 probably null Het
Cmtr1 T C 17: 29,702,161 (GRCm38) Y794H probably benign Het
Copb2 A G 9: 98,570,325 (GRCm38) E54G probably damaging Het
Ctsk A T 3: 95,501,456 (GRCm38) H77L probably damaging Het
Dnah3 T C 7: 120,073,541 (GRCm38) Y546C probably benign Het
Ephb2 A T 4: 136,696,055 (GRCm38) V304E probably benign Het
Ern1 C T 11: 106,411,769 (GRCm38) V420I probably benign Het
Esrrg A T 1: 188,198,798 (GRCm38) E339V probably damaging Het
Fbxo10 A C 4: 45,061,960 (GRCm38) F189V probably damaging Het
Foxl1 G T 8: 121,128,421 (GRCm38) A154S probably damaging Het
Frs3 A G 17: 47,701,677 (GRCm38) D103G possibly damaging Het
Gdpd4 A G 7: 98,040,930 (GRCm38) T610A probably benign Het
Gm10271 A T 10: 116,972,592 (GRCm38) F6L probably damaging Het
Gm4847 C T 1: 166,643,373 (GRCm38) S36N probably benign Het
Grm8 G T 6: 27,363,624 (GRCm38) L631I probably damaging Het
Ints9 T A 14: 65,039,328 (GRCm38) L648Q probably damaging Het
Kansl1l T C 1: 66,735,726 (GRCm38) H647R probably damaging Het
Kcnq1 T A 7: 143,261,368 (GRCm38) H501Q probably damaging Het
Kctd20 T C 17: 28,966,910 (GRCm38) L409P probably benign Het
Kiss1r A G 10: 79,918,707 (GRCm38) T12A probably benign Het
Kndc1 T A 7: 139,927,420 (GRCm38) V1173E probably damaging Het
Kprp T C 3: 92,824,774 (GRCm38) E323G probably damaging Het
Krtap10-4 A T 10: 77,826,607 (GRCm38) probably benign Het
Lrrc37a A G 11: 103,500,958 (GRCm38) Y1214H probably benign Het
Lysmd3 G A 13: 81,669,588 (GRCm38) G228D probably damaging Het
Muc16 G A 9: 18,659,243 (GRCm38) A660V unknown Het
Muc5b T C 7: 141,858,161 (GRCm38) C1615R unknown Het
Nans A T 4: 46,489,441 (GRCm38) N28I probably damaging Het
Nlrp4b C T 7: 10,714,491 (GRCm38) S207L possibly damaging Het
Nrd1 T G 4: 109,019,071 (GRCm38) F355V probably damaging Het
Nrip2 C T 6: 128,400,016 (GRCm38) probably benign Het
Nufip1 C T 14: 76,114,188 (GRCm38) P161L probably damaging Het
Ogdhl C T 14: 32,327,114 (GRCm38) H114Y possibly damaging Het
Olfr1295 T A 2: 111,564,674 (GRCm38) I257F probably damaging Het
Olfr160 G T 9: 37,712,110 (GRCm38) H56Q probably damaging Het
Opa1 T A 16: 29,587,018 (GRCm38) W134R probably damaging Het
Parp14 G A 16: 35,841,457 (GRCm38) P1403S probably benign Het
Patl2 T C 2: 122,124,484 (GRCm38) D361G probably damaging Het
Pcx A G 19: 4,621,266 (GRCm38) D1172G probably damaging Het
Phax A G 18: 56,575,603 (GRCm38) T58A probably benign Het
Phf11b T A 14: 59,324,926 (GRCm38) I177L possibly damaging Het
Pole T A 5: 110,302,144 (GRCm38) V819D probably damaging Het
Poll T C 19: 45,553,155 (GRCm38) D458G possibly damaging Het
Polr2m G A 9: 71,479,320 (GRCm38) probably null Het
Ppp1r9a C A 6: 5,134,660 (GRCm38) H928N probably benign Het
Prdm2 T C 4: 143,170,113 (GRCm38) N102D probably damaging Het
Rbm45 A T 2: 76,370,412 (GRCm38) D95V probably benign Het
Rdh19 A G 10: 127,859,594 (GRCm38) M226V probably benign Het
Rgs20 A G 1: 4,912,330 (GRCm38) I305T probably benign Het
Rhobtb2 T C 14: 69,796,369 (GRCm38) N469S probably damaging Het
Rif1 C G 2: 52,095,844 (GRCm38) L614V probably damaging Het
Rps6ka1 A G 4: 133,866,397 (GRCm38) I177T probably damaging Het
Samd12 T A 15: 53,719,623 (GRCm38) D105V probably damaging Het
Setd3 A T 12: 108,160,335 (GRCm38) D88E probably benign Het
Sfmbt2 G T 2: 10,579,381 (GRCm38) V850L possibly damaging Het
Slc26a10 C A 10: 127,178,758 (GRCm38) A195S possibly damaging Het
Smcp C A 3: 92,584,250 (GRCm38) A97S unknown Het
Stxbp5 G A 10: 9,835,933 (GRCm38) H248Y probably damaging Het
Syne2 T C 12: 76,024,144 (GRCm38) L4457P probably benign Het
Tbx3 A G 5: 119,680,529 (GRCm38) T390A probably benign Het
Tmeff2 G A 1: 50,979,442 (GRCm38) W194* probably null Het
Tmem120b G A 5: 123,104,481 (GRCm38) R174Q probably damaging Het
Trio A G 15: 27,891,459 (GRCm38) V402A probably benign Het
Ttll2 C A 17: 7,352,367 (GRCm38) G54W possibly damaging Het
Uba7 G A 9: 107,981,234 (GRCm38) V786M probably damaging Het
Vmn2r32 T C 7: 7,479,810 (GRCm38) E55G probably damaging Het
Wdr35 A G 12: 9,016,511 (GRCm38) D724G probably damaging Het
Xrcc1 G A 7: 24,567,868 (GRCm38) V381M probably damaging Het
Zdhhc11 T A 13: 73,979,184 (GRCm38) W227R probably benign Het
Zfp341 T C 2: 154,645,659 (GRCm38) S681P probably damaging Het
Zfp735 T A 11: 73,690,348 (GRCm38) D70E possibly damaging Het
Zmat4 G A 8: 23,929,263 (GRCm38) A104T probably damaging Het
Other mutations in Rev3l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Rev3l APN 10 39,806,969 (GRCm38) missense probably benign
IGL00815:Rev3l APN 10 39,859,153 (GRCm38) missense possibly damaging 0.79
IGL00964:Rev3l APN 10 39,864,806 (GRCm38) missense probably benign 0.39
IGL01765:Rev3l APN 10 39,828,265 (GRCm38) missense probably benign 0.00
IGL01792:Rev3l APN 10 39,823,340 (GRCm38) missense probably benign
IGL01950:Rev3l APN 10 39,821,157 (GRCm38) missense probably damaging 1.00
IGL01963:Rev3l APN 10 39,822,737 (GRCm38) missense possibly damaging 0.90
IGL02089:Rev3l APN 10 39,825,099 (GRCm38) missense probably damaging 1.00
IGL02288:Rev3l APN 10 39,828,216 (GRCm38) missense probably benign
IGL02381:Rev3l APN 10 39,821,346 (GRCm38) missense possibly damaging 0.83
IGL02409:Rev3l APN 10 39,821,148 (GRCm38) missense possibly damaging 0.75
IGL02434:Rev3l APN 10 39,822,591 (GRCm38) missense probably damaging 1.00
IGL02570:Rev3l APN 10 39,848,013 (GRCm38) missense possibly damaging 0.68
IGL02581:Rev3l APN 10 39,821,281 (GRCm38) missense probably benign 0.10
IGL02654:Rev3l APN 10 39,862,734 (GRCm38) missense probably damaging 1.00
IGL02720:Rev3l APN 10 39,822,395 (GRCm38) nonsense probably null
IGL02746:Rev3l APN 10 39,824,589 (GRCm38) missense probably damaging 0.99
IGL02829:Rev3l APN 10 39,825,240 (GRCm38) missense probably damaging 1.00
IGL02961:Rev3l APN 10 39,827,945 (GRCm38) missense possibly damaging 0.65
IGL02974:Rev3l APN 10 39,862,747 (GRCm38) nonsense probably null
IGL03029:Rev3l APN 10 39,828,486 (GRCm38) missense probably benign 0.34
IGL03153:Rev3l APN 10 39,806,878 (GRCm38) missense probably damaging 1.00
IGL03172:Rev3l APN 10 39,824,790 (GRCm38) missense probably benign 0.10
R0068:Rev3l UTSW 10 39,824,831 (GRCm38) missense possibly damaging 0.68
R0068:Rev3l UTSW 10 39,824,831 (GRCm38) missense possibly damaging 0.68
R0153:Rev3l UTSW 10 39,874,128 (GRCm38) nonsense probably null
R0308:Rev3l UTSW 10 39,824,894 (GRCm38) missense probably benign 0.09
R0355:Rev3l UTSW 10 39,817,286 (GRCm38) missense probably damaging 1.00
R0513:Rev3l UTSW 10 39,828,143 (GRCm38) missense probably benign 0.00
R0523:Rev3l UTSW 10 39,848,049 (GRCm38) missense probably benign 0.02
R0559:Rev3l UTSW 10 39,824,487 (GRCm38) missense probably damaging 1.00
R0761:Rev3l UTSW 10 39,874,195 (GRCm38) missense probably benign 0.32
R1023:Rev3l UTSW 10 39,832,639 (GRCm38) missense probably damaging 1.00
R1159:Rev3l UTSW 10 39,851,925 (GRCm38) nonsense probably null
R1398:Rev3l UTSW 10 39,821,583 (GRCm38) missense probably benign 0.05
R1478:Rev3l UTSW 10 39,783,333 (GRCm38) critical splice donor site probably null
R1517:Rev3l UTSW 10 39,838,443 (GRCm38) missense probably benign 0.34
R1527:Rev3l UTSW 10 39,822,822 (GRCm38) missense probably damaging 1.00
R1635:Rev3l UTSW 10 39,806,662 (GRCm38) missense probably damaging 0.98
R1695:Rev3l UTSW 10 39,824,616 (GRCm38) missense probably damaging 0.97
R1695:Rev3l UTSW 10 39,824,615 (GRCm38) nonsense probably null
R1782:Rev3l UTSW 10 39,799,885 (GRCm38) missense probably benign
R1815:Rev3l UTSW 10 39,822,871 (GRCm38) missense probably benign 0.41
R1818:Rev3l UTSW 10 39,828,424 (GRCm38) missense probably benign 0.05
R2039:Rev3l UTSW 10 39,824,444 (GRCm38) missense probably damaging 1.00
R2071:Rev3l UTSW 10 39,824,353 (GRCm38) missense probably benign 0.17
R2101:Rev3l UTSW 10 39,828,096 (GRCm38) missense probably benign 0.00
R2141:Rev3l UTSW 10 39,848,049 (GRCm38) missense probably benign 0.02
R2883:Rev3l UTSW 10 39,825,156 (GRCm38) missense probably damaging 1.00
R3787:Rev3l UTSW 10 39,846,210 (GRCm38) missense probably damaging 0.97
R3910:Rev3l UTSW 10 39,820,556 (GRCm38) missense probably damaging 1.00
R3912:Rev3l UTSW 10 39,820,556 (GRCm38) missense probably damaging 1.00
R3913:Rev3l UTSW 10 39,820,556 (GRCm38) missense probably damaging 1.00
R4590:Rev3l UTSW 10 39,806,933 (GRCm38) missense probably damaging 1.00
R4631:Rev3l UTSW 10 39,828,416 (GRCm38) missense probably benign 0.44
R4633:Rev3l UTSW 10 39,846,186 (GRCm38) missense probably damaging 1.00
R4707:Rev3l UTSW 10 39,823,397 (GRCm38) missense probably damaging 0.99
R4724:Rev3l UTSW 10 39,846,806 (GRCm38) nonsense probably null
R4810:Rev3l UTSW 10 39,823,725 (GRCm38) missense probably benign 0.01
R4857:Rev3l UTSW 10 39,838,459 (GRCm38) missense probably damaging 1.00
R4882:Rev3l UTSW 10 39,821,460 (GRCm38) missense possibly damaging 0.89
R4928:Rev3l UTSW 10 39,823,985 (GRCm38) missense probably benign 0.30
R4970:Rev3l UTSW 10 39,823,330 (GRCm38) missense probably benign 0.00
R4977:Rev3l UTSW 10 39,823,578 (GRCm38) missense possibly damaging 0.80
R5112:Rev3l UTSW 10 39,823,330 (GRCm38) missense probably benign 0.00
R5261:Rev3l UTSW 10 39,846,729 (GRCm38) missense probably damaging 1.00
R5419:Rev3l UTSW 10 39,824,931 (GRCm38) missense possibly damaging 0.95
R5570:Rev3l UTSW 10 39,852,075 (GRCm38) critical splice donor site probably null
R5628:Rev3l UTSW 10 39,822,967 (GRCm38) missense probably damaging 0.98
R5689:Rev3l UTSW 10 39,794,958 (GRCm38) missense probably damaging 1.00
R5781:Rev3l UTSW 10 39,823,093 (GRCm38) missense probably benign 0.00
R5829:Rev3l UTSW 10 39,806,906 (GRCm38) missense probably damaging 0.97
R5984:Rev3l UTSW 10 39,742,689 (GRCm38) intron probably benign
R6054:Rev3l UTSW 10 39,824,150 (GRCm38) missense probably benign 0.01
R6171:Rev3l UTSW 10 39,862,713 (GRCm38) nonsense probably null
R6220:Rev3l UTSW 10 39,822,779 (GRCm38) missense probably damaging 1.00
R6520:Rev3l UTSW 10 39,822,702 (GRCm38) missense probably benign 0.06
R6798:Rev3l UTSW 10 39,854,763 (GRCm38) missense probably damaging 1.00
R6811:Rev3l UTSW 10 39,830,921 (GRCm38) nonsense probably null
R6812:Rev3l UTSW 10 39,823,548 (GRCm38) missense probably benign
R6904:Rev3l UTSW 10 39,821,481 (GRCm38) missense probably benign
R6905:Rev3l UTSW 10 39,817,327 (GRCm38) missense probably benign 0.18
R6938:Rev3l UTSW 10 39,862,710 (GRCm38) missense probably damaging 1.00
R7037:Rev3l UTSW 10 39,851,975 (GRCm38) missense probably damaging 1.00
R7124:Rev3l UTSW 10 39,822,167 (GRCm38) nonsense probably null
R7286:Rev3l UTSW 10 39,823,605 (GRCm38) missense probably damaging 0.99
R7385:Rev3l UTSW 10 39,823,682 (GRCm38) missense probably benign 0.01
R7575:Rev3l UTSW 10 39,821,445 (GRCm38) missense possibly damaging 0.56
R7596:Rev3l UTSW 10 39,821,538 (GRCm38) missense probably damaging 1.00
R7597:Rev3l UTSW 10 39,822,884 (GRCm38) missense probably damaging 1.00
R7670:Rev3l UTSW 10 39,836,722 (GRCm38) missense probably benign 0.01
R7804:Rev3l UTSW 10 39,823,485 (GRCm38) missense probably benign 0.34
R7818:Rev3l UTSW 10 39,823,902 (GRCm38) missense possibly damaging 0.54
R7874:Rev3l UTSW 10 39,822,495 (GRCm38) missense possibly damaging 0.72
R7991:Rev3l UTSW 10 39,863,738 (GRCm38) missense possibly damaging 0.52
R8059:Rev3l UTSW 10 39,843,495 (GRCm38) missense probably damaging 1.00
R8174:Rev3l UTSW 10 39,859,115 (GRCm38) missense probably damaging 1.00
R8187:Rev3l UTSW 10 39,806,697 (GRCm38) missense probably benign
R8299:Rev3l UTSW 10 39,821,541 (GRCm38) missense probably benign 0.01
R8352:Rev3l UTSW 10 39,822,903 (GRCm38) missense probably damaging 1.00
R8452:Rev3l UTSW 10 39,822,903 (GRCm38) missense probably damaging 1.00
R8468:Rev3l UTSW 10 39,827,991 (GRCm38) missense probably damaging 0.99
R8487:Rev3l UTSW 10 39,806,848 (GRCm38) missense probably damaging 1.00
R8512:Rev3l UTSW 10 39,821,538 (GRCm38) missense probably damaging 1.00
R8554:Rev3l UTSW 10 39,806,842 (GRCm38) missense probably benign 0.12
R8702:Rev3l UTSW 10 39,838,469 (GRCm38) nonsense probably null
R8848:Rev3l UTSW 10 39,846,709 (GRCm38) missense probably damaging 0.99
R8857:Rev3l UTSW 10 39,794,969 (GRCm38) nonsense probably null
R8870:Rev3l UTSW 10 39,862,790 (GRCm38) missense probably damaging 1.00
R9094:Rev3l UTSW 10 39,824,813 (GRCm38) missense probably benign
R9175:Rev3l UTSW 10 39,854,768 (GRCm38) missense possibly damaging 0.83
R9286:Rev3l UTSW 10 39,806,951 (GRCm38) missense possibly damaging 0.54
R9299:Rev3l UTSW 10 39,848,003 (GRCm38) missense probably damaging 1.00
R9307:Rev3l UTSW 10 39,817,153 (GRCm38) missense probably benign 0.01
R9337:Rev3l UTSW 10 39,822,854 (GRCm38) missense probably benign 0.40
R9342:Rev3l UTSW 10 39,821,462 (GRCm38) missense probably benign
R9389:Rev3l UTSW 10 39,822,971 (GRCm38) missense possibly damaging 0.47
R9395:Rev3l UTSW 10 39,859,223 (GRCm38) critical splice donor site probably null
R9458:Rev3l UTSW 10 39,783,251 (GRCm38) missense probably damaging 1.00
R9481:Rev3l UTSW 10 39,825,037 (GRCm38) missense probably benign
R9646:Rev3l UTSW 10 39,822,444 (GRCm38) missense probably damaging 1.00
R9686:Rev3l UTSW 10 39,867,388 (GRCm38) missense possibly damaging 0.67
X0022:Rev3l UTSW 10 39,828,607 (GRCm38) critical splice donor site probably null
Z1088:Rev3l UTSW 10 39,824,318 (GRCm38) missense probably benign 0.41
Predicted Primers PCR Primer
(F):5'- GTCTCAGGTAGCACAGAGTACAC -3'
(R):5'- TTGCTTCTGACAATGACCTTTG -3'

Sequencing Primer
(F):5'- TAGCACAGAGTACACAGGTATGTTC -3'
(R):5'- GCTTCTGACAATGACCTTTGTTTTAC -3'
Posted On 2017-06-26