Incidental Mutation 'R7124:Rev3l'
ID 552218
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 045212-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7124 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 39608114-39751207 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 39698163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 887 (K887*)
Ref Sequence ENSEMBL: ENSMUSP00000019986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019986] [ENSMUST00000131186] [ENSMUST00000139803] [ENSMUST00000164763]
AlphaFold no structure available at present
PDB Structure Structure of the Rev1 CTD-Rev3/7-Pol kappa RIR complex [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000019986
AA Change: K887*
SMART Domains Protein: ENSMUSP00000019986
Gene: ENSMUSG00000019841
AA Change: K887*

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 null
Transcript: ENSMUST00000164763
AA Change: K887*
SMART Domains Protein: ENSMUSP00000131519
Gene: ENSMUSG00000019841
AA Change: K887*

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 97% (72/74)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A C 3: 124,208,042 (GRCm39) S212R probably benign Het
4930562C15Rik T C 16: 4,682,196 (GRCm39) S170P probably benign Het
9330182O14Rik G A 15: 40,008,303 (GRCm39) C59Y unknown Het
AA986860 A G 1: 130,670,624 (GRCm39) E282G possibly damaging Het
Adam1a G T 5: 121,657,397 (GRCm39) T632K probably benign Het
Aspg G T 12: 112,089,417 (GRCm39) A402S probably damaging Het
Capn7 C T 14: 31,058,642 (GRCm39) probably benign Het
Card9 C T 2: 26,246,896 (GRCm39) probably null Het
Cdh13 T C 8: 119,694,912 (GRCm39) V254A probably damaging Het
Colec10 T C 15: 54,325,767 (GRCm39) V199A probably damaging Het
Copb2 T C 9: 98,459,106 (GRCm39) S283P probably damaging Het
Csmd1 G T 8: 15,953,202 (GRCm39) S3426R probably damaging Het
Cyp4f14 A G 17: 33,133,562 (GRCm39) V98A probably benign Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dysf A G 6: 84,167,883 (GRCm39) probably null Het
Efcab3 T C 11: 104,629,100 (GRCm39) F926S probably benign Het
Eif4ebp1 T C 8: 27,763,447 (GRCm39) V80A probably damaging Het
Eloa T A 4: 135,736,452 (GRCm39) I565F probably damaging Het
Espn G T 4: 152,215,721 (GRCm39) H513N probably benign Het
Fam83c C T 2: 155,671,491 (GRCm39) S648N probably benign Het
Fdxr C T 11: 115,160,403 (GRCm39) V351M probably benign Het
Fras1 A T 5: 96,862,260 (GRCm39) D2213V probably damaging Het
Gbp4 T A 5: 105,267,825 (GRCm39) I474F possibly damaging Het
Golgb1 T C 16: 36,734,035 (GRCm39) V1135A probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Hipk2 A T 6: 38,795,413 (GRCm39) Y285* probably null Het
Ifi27l2b T C 12: 103,417,579 (GRCm39) I203V probably damaging Het
Itga10 T A 3: 96,559,081 (GRCm39) M390K probably damaging Het
Itgb8 G T 12: 119,166,159 (GRCm39) S124* probably null Het
Klhdc10 T A 6: 30,441,826 (GRCm39) F173I probably damaging Het
Kng2 T G 16: 22,830,805 (GRCm39) N168T probably damaging Het
Krtap24-1 T C 16: 88,408,434 (GRCm39) T231A probably damaging Het
Lbx2 A T 6: 83,065,045 (GRCm39) D194V probably damaging Het
Lrrc39 C A 3: 116,359,562 (GRCm39) Q36K probably benign Het
Madd T C 2: 90,992,393 (GRCm39) E1093G possibly damaging Het
Mfap3l A G 8: 61,124,303 (GRCm39) T182A probably damaging Het
Myo9b T A 8: 71,786,345 (GRCm39) Y670* probably null Het
Nbea A G 3: 55,899,865 (GRCm39) L1428P probably damaging Het
Nkx2-3 T C 19: 43,603,245 (GRCm39) Y284H possibly damaging Het
Nphp4 A G 4: 152,640,141 (GRCm39) D1009G probably benign Het
Npy2r G A 3: 82,448,490 (GRCm39) A95V probably damaging Het
Nuggc A G 14: 65,846,251 (GRCm39) E70G probably damaging Het
Or5ap2 T C 2: 85,680,254 (GRCm39) S153P probably benign Het
Or5m11 T A 2: 85,781,817 (GRCm39) S137T possibly damaging Het
Palld A T 8: 61,969,679 (GRCm39) V1215D unknown Het
Pard6g T C 18: 80,160,340 (GRCm39) I151T possibly damaging Het
Parp12 T C 6: 39,088,670 (GRCm39) I189V probably benign Het
Parp4 A G 14: 56,840,256 (GRCm39) I554V probably benign Het
Pcnx2 G A 8: 126,480,356 (GRCm39) P1984S probably damaging Het
Piwil4 T C 9: 14,648,196 (GRCm39) M128V probably benign Het
Polr2a C A 11: 69,628,288 (GRCm39) E1302* probably null Het
Psg17 C A 7: 18,548,421 (GRCm39) G450V probably damaging Het
Psg17 C G 7: 18,548,422 (GRCm39) G450R probably damaging Het
Rag1 T C 2: 101,474,128 (GRCm39) E338G probably damaging Het
Rragd T C 4: 32,996,027 (GRCm39) F124S possibly damaging Het
Scube1 A T 15: 83,513,712 (GRCm39) probably null Het
Sfpq A T 4: 126,919,725 (GRCm39) D490V possibly damaging Het
Smc1b G T 15: 84,955,798 (GRCm39) Q1034K probably damaging Het
Smg7 T C 1: 152,753,831 (GRCm39) N5S probably benign Het
Spata31d1a A C 13: 59,850,301 (GRCm39) L609R probably damaging Het
Ssh2 A G 11: 77,345,164 (GRCm39) K1050E probably benign Het
Stab1 G A 14: 30,882,824 (GRCm39) T393I possibly damaging Het
Sult2a4 C T 7: 13,722,320 (GRCm39) W49* probably null Het
Thrap3 A T 4: 126,074,231 (GRCm39) S172T unknown Het
Tmem130 A G 5: 144,687,721 (GRCm39) V205A probably damaging Het
Ube2d2b A G 5: 107,978,717 (GRCm39) I123V probably benign Het
Unc79 G T 12: 103,027,652 (GRCm39) L414F probably damaging Het
Vmn2r30 C T 7: 7,337,183 (GRCm39) S151N probably benign Het
Vmn2r54 T A 7: 12,356,078 (GRCm39) T443S probably benign Het
Zfp229 T A 17: 21,961,597 (GRCm39) S51T probably damaging Het
Zfp617 T C 8: 72,686,384 (GRCm39) L238P probably damaging Het
Zfp707 T A 15: 75,845,398 (GRCm39) C87* probably null Het
Zfp853 T C 5: 143,275,362 (GRCm39) K101R unknown 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
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
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'- CAATCTGGCAATAAACCTTCCAGG -3'
(R):5'- TCGGGATTTGAGAGTTCCATC -3'

Sequencing Primer
(F):5'- GCCACAAAAGACAGCTGT -3'
(R):5'- CACCGATTTCCATGGGATGAG -3'
Posted On 2019-05-15