Incidental Mutation 'IGL01393:Rev1'
ID79288
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rev1
Ensembl Gene ENSMUSG00000026082
Gene NameREV1, DNA directed polymerase
SynonymsREV1, Rev1l, 1110027I23Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.926) question?
Stock #IGL01393
Quality Score
Status
Chromosome1
Chromosomal Location38052786-38129801 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 38092063 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 168 (V168A)
Ref Sequence ENSEMBL: ENSMUSP00000027251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027251] [ENSMUST00000192594]
PDB Structure
Solution structure of the mouse Rev1 C-terminal domain [SOLUTION NMR]
Solution structure of the mouse Rev1 CTD in complex with the Rev1-interacting Region (RIR)of Pol Kappa [SOLUTION NMR]
Structure of the Rev1 CTD-Rev3/7-Pol kappa RIR complex [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000027251
AA Change: V168A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027251
Gene: ENSMUSG00000026082
AA Change: V168A

DomainStartEndE-ValueType
BRCT 46 121 3.99e-13 SMART
low complexity region 320 342 N/A INTRINSIC
Pfam:IMS 420 620 1.9e-43 PFAM
Pfam:IMS_C 700 831 5.8e-20 PFAM
low complexity region 888 901 N/A INTRINSIC
Pfam:DUF4414 938 1071 9.7e-11 PFAM
Pfam:REV1_C 1127 1248 1.2e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192594
SMART Domains Protein: ENSMUSP00000141379
Gene: ENSMUSG00000026082

DomainStartEndE-ValueType
BRCT 46 121 2.5e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194650
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with similarity to the S. cerevisiae mutagenesis protein Rev1. The Rev1 proteins contain a BRCT domain, which is important in protein-protein interactions. A suggested role for the human Rev1-like protein is as a scaffold that recruits DNA polymerases involved in translesion synthesis (TLS) of damaged DNA. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit abnormal somatic hypermutation frequency of the Ig gene. Mice homozygous for a knock-out allele exhibit background-sensitive prenatal lethality and abnormal somatic hypermutation frequency. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik G A 14: 36,096,422 V126I possibly damaging Het
A630073D07Rik G T 6: 132,626,614 Q60K unknown Het
Alpk2 A G 18: 65,307,708 S205P possibly damaging Het
Ang4 T A 14: 51,764,213 I93L probably benign Het
Arpin A G 7: 79,931,840 V44A possibly damaging Het
Atxn3 A T 12: 101,933,047 C263* probably null Het
C530008M17Rik T C 5: 76,858,971 S1060P unknown Het
Cd209f T C 8: 4,103,154 N260S probably damaging Het
Cdh20 A G 1: 104,934,244 R50G probably benign Het
Csmd3 C T 15: 48,457,599 V272I possibly damaging Het
Dst A T 1: 34,167,625 Y1136F possibly damaging Het
Fam20c A G 5: 138,807,271 Y420C probably damaging Het
Fancd2 T A 6: 113,577,360 probably benign Het
Fat2 T C 11: 55,269,309 D3326G probably benign Het
Filip1l A G 16: 57,572,223 N820S probably damaging Het
Gm26566 G A 4: 88,722,344 probably benign Het
Gm4792 A G 10: 94,298,442 L22P unknown Het
Gpat2 A G 2: 127,432,651 E386G probably damaging Het
Grm3 T C 5: 9,589,856 D63G probably benign Het
Hdc A G 2: 126,594,661 V430A probably benign Het
Hnf4a T C 2: 163,551,572 probably benign Het
Il2ra A G 2: 11,683,054 D215G probably damaging Het
Kctd3 T C 1: 189,000,290 I74V probably benign Het
Kctd5 A T 17: 24,059,318 probably null Het
Lrsam1 A T 2: 32,955,173 probably benign Het
Mblac1 A G 5: 138,194,774 N126S possibly damaging Het
Mmrn1 T A 6: 60,960,708 probably benign Het
Mpp3 A T 11: 102,025,478 L16Q probably damaging Het
Mrgprb1 C A 7: 48,448,006 A53S possibly damaging Het
Nbea C A 3: 56,005,308 M1019I probably benign Het
Nlrp5 A G 7: 23,404,174 K22R probably null Het
Olfr1298 A G 2: 111,645,256 V247A probably damaging Het
Olfr350 G A 2: 36,850,541 R165Q probably benign Het
Olfr700 C T 7: 106,806,435 G9E probably benign Het
Pard6b T A 2: 168,087,378 S35T probably benign Het
Peli1 T C 11: 21,147,400 V215A probably benign Het
Pkp4 A T 2: 59,347,925 D1003V probably damaging Het
Pot1a G A 6: 25,744,631 R625* probably null Het
Ppp1r16a T C 15: 76,694,544 S483P probably benign Het
Prpf8 C A 11: 75,494,295 A794D possibly damaging Het
Prrg3 T C X: 71,967,517 V210A probably benign Het
Sez6l G T 5: 112,438,395 probably benign Het
Spag17 A G 3: 100,027,610 T711A possibly damaging Het
Spice1 A G 16: 44,366,630 I163M probably benign Het
Tex13c1 C T X: 43,591,356 A66V probably damaging Het
Tmem132d A T 5: 127,784,638 S806R probably benign Het
Tnc A G 4: 64,014,054 probably benign Het
Tpbg T A 9: 85,844,092 V38E unknown Het
Unc13c T A 9: 73,540,270 I1883F probably benign Het
Vmn2r61 A C 7: 42,266,834 Q290H probably benign Het
Vps39 A G 2: 120,350,238 probably benign Het
Zfp369 T C 13: 65,294,474 V294A possibly damaging Het
Zfp821 T A 8: 109,709,478 probably benign Het
Zfp941 C T 7: 140,811,928 G506E probably damaging Het
Other mutations in Rev1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00896:Rev1 APN 1 38098940 missense probably damaging 1.00
IGL01065:Rev1 APN 1 38099009 missense possibly damaging 0.89
IGL03003:Rev1 APN 1 38088073 missense possibly damaging 0.77
H8562:Rev1 UTSW 1 38056767 missense probably damaging 0.96
PIT1430001:Rev1 UTSW 1 38056256 unclassified probably benign
R0409:Rev1 UTSW 1 38074368 nonsense probably null
R0606:Rev1 UTSW 1 38059123 missense probably null 1.00
R1134:Rev1 UTSW 1 38057687 missense probably benign 0.04
R1171:Rev1 UTSW 1 38088500 missense possibly damaging 0.89
R1208:Rev1 UTSW 1 38059118 unclassified probably benign
R1440:Rev1 UTSW 1 38088205 missense probably damaging 1.00
R1485:Rev1 UTSW 1 38088572 missense probably benign 0.00
R1627:Rev1 UTSW 1 38055490 missense probably damaging 0.99
R3845:Rev1 UTSW 1 38098988 missense probably damaging 0.99
R3948:Rev1 UTSW 1 38074333 missense possibly damaging 0.69
R4074:Rev1 UTSW 1 38054238 missense possibly damaging 0.50
R4075:Rev1 UTSW 1 38054238 missense possibly damaging 0.50
R4076:Rev1 UTSW 1 38054238 missense possibly damaging 0.50
R4248:Rev1 UTSW 1 38107648 missense possibly damaging 0.87
R4293:Rev1 UTSW 1 38108419 missense possibly damaging 0.89
R4548:Rev1 UTSW 1 38059194 missense possibly damaging 0.72
R4610:Rev1 UTSW 1 38053649 missense probably damaging 1.00
R4654:Rev1 UTSW 1 38079256 intron probably benign
R5032:Rev1 UTSW 1 38074489 intron probably benign
R5286:Rev1 UTSW 1 38055326 nonsense probably null
R5311:Rev1 UTSW 1 38079393 missense probably benign 0.00
R5327:Rev1 UTSW 1 38108451 nonsense probably null
R6363:Rev1 UTSW 1 38071489 missense probably damaging 1.00
R7050:Rev1 UTSW 1 38054271 missense probably damaging 1.00
R7072:Rev1 UTSW 1 38067545 nonsense probably null
R7132:Rev1 UTSW 1 38071449 missense possibly damaging 0.95
R7264:Rev1 UTSW 1 38085601 missense probably damaging 1.00
R7298:Rev1 UTSW 1 38053104 missense probably damaging 1.00
R7367:Rev1 UTSW 1 38074407 nonsense probably null
R7395:Rev1 UTSW 1 38088065 missense possibly damaging 0.69
R7829:Rev1 UTSW 1 38056445 missense probably damaging 0.98
R8053:Rev1 UTSW 1 38063141 missense possibly damaging 0.67
R8093:Rev1 UTSW 1 38075016 intron probably benign
R8356:Rev1 UTSW 1 38059243 nonsense probably null
R8456:Rev1 UTSW 1 38059243 nonsense probably null
R8461:Rev1 UTSW 1 38083787 missense possibly damaging 0.56
X0017:Rev1 UTSW 1 38053661 missense probably damaging 1.00
Posted On2013-11-05