Incidental Mutation 'R5032:Rev1'
| ID |
391722 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rev1
|
| Ensembl Gene |
ENSMUSG00000026082 |
| Gene Name |
REV1, DNA directed polymerase |
| Synonyms |
1110027I23Rik, Rev1l, REV1 |
| MMRRC Submission |
042623-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.921)
|
| Stock # |
R5032 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
38091867-38168882 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to T
at 38113570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027251]
|
| AlphaFold |
Q920Q2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027251
|
| SMART Domains |
Protein: ENSMUSP00000027251
Gene: ENSMUSG00000026082
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
noncoding transcript
Transcript: ENSMUST00000192697
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193472
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193922
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194650
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194815
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195028
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.0%
|
| Validation Efficiency |
97% (77/79) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Actl9 |
A |
G |
17: 33,653,062 (GRCm39) |
N374S |
probably benign |
Het |
| Adam34l |
T |
C |
8: 44,079,508 (GRCm39) |
N239D |
probably damaging |
Het |
| Ahcyl2 |
T |
A |
6: 29,768,555 (GRCm39) |
|
probably benign |
Het |
| Arfgef2 |
T |
C |
2: 166,720,464 (GRCm39) |
M1501T |
probably benign |
Het |
| Asb17 |
A |
T |
3: 153,550,175 (GRCm39) |
D69V |
probably damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,082,202 (GRCm39) |
Y877C |
probably damaging |
Het |
| Atrip |
T |
C |
9: 108,894,271 (GRCm39) |
Q64R |
probably benign |
Het |
| Auts2 |
A |
G |
5: 131,505,730 (GRCm39) |
|
probably benign |
Het |
| Cacna2d1 |
G |
T |
5: 16,564,068 (GRCm39) |
R893L |
probably damaging |
Het |
| Ccdc138 |
C |
T |
10: 58,409,458 (GRCm39) |
R596C |
probably damaging |
Het |
| Cd163 |
A |
G |
6: 124,288,628 (GRCm39) |
Y353C |
probably damaging |
Het |
| Cdon |
T |
C |
9: 35,400,330 (GRCm39) |
Y1015H |
probably damaging |
Het |
| Chsy3 |
T |
C |
18: 59,312,543 (GRCm39) |
Y339H |
probably damaging |
Het |
| Cspp1 |
T |
C |
1: 10,136,744 (GRCm39) |
W190R |
probably benign |
Het |
| Ddx1 |
A |
T |
12: 13,273,993 (GRCm39) |
I570N |
probably damaging |
Het |
| Duox1 |
G |
A |
2: 122,167,798 (GRCm39) |
R1027H |
probably benign |
Het |
| Dync1h1 |
C |
T |
12: 110,593,326 (GRCm39) |
Q1198* |
probably null |
Het |
| Ecel1 |
G |
A |
1: 87,081,975 (GRCm39) |
S246L |
probably damaging |
Het |
| Fam228b |
T |
G |
12: 4,813,042 (GRCm39) |
R109S |
probably damaging |
Het |
| Fut9 |
T |
A |
4: 25,799,245 (GRCm39) |
|
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,939,159 (GRCm39) |
R814G |
probably damaging |
Het |
| Gmps |
A |
G |
3: 63,897,746 (GRCm39) |
K233E |
probably benign |
Het |
| Gramd1c |
A |
G |
16: 43,811,026 (GRCm39) |
Y438H |
probably damaging |
Het |
| Gsdmc |
A |
T |
15: 63,673,882 (GRCm39) |
D134E |
possibly damaging |
Het |
| Gxylt2 |
A |
G |
6: 100,760,142 (GRCm39) |
I226V |
probably benign |
Het |
| Hc |
T |
C |
2: 34,903,544 (GRCm39) |
I1037V |
probably benign |
Het |
| Hspa4 |
T |
G |
11: 53,179,950 (GRCm39) |
R69S |
possibly damaging |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Kifc3 |
A |
G |
8: 95,829,354 (GRCm39) |
S508P |
probably damaging |
Het |
| Krt7 |
G |
A |
15: 101,310,428 (GRCm39) |
R25H |
probably benign |
Het |
| Lhfpl6 |
T |
A |
3: 52,950,854 (GRCm39) |
S43T |
possibly damaging |
Het |
| Lrrc7 |
T |
A |
3: 157,887,217 (GRCm39) |
K394N |
possibly damaging |
Het |
| Lypd4 |
A |
T |
7: 24,566,240 (GRCm39) |
L28Q |
probably damaging |
Het |
| Mdc1 |
A |
G |
17: 36,161,481 (GRCm39) |
E798G |
probably benign |
Het |
| Mta1 |
T |
A |
12: 113,097,145 (GRCm39) |
|
probably null |
Het |
| Mtg2 |
A |
T |
2: 179,725,183 (GRCm39) |
Q132L |
possibly damaging |
Het |
| Myh1 |
G |
T |
11: 67,096,874 (GRCm39) |
E382* |
probably null |
Het |
| Myo3a |
T |
C |
2: 22,287,413 (GRCm39) |
L175P |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,904,786 (GRCm39) |
F144L |
possibly damaging |
Het |
| Nfrkb |
T |
A |
9: 31,300,351 (GRCm39) |
|
probably null |
Het |
| Nmt2 |
C |
T |
2: 3,285,429 (GRCm39) |
P5L |
probably benign |
Het |
| Nsmf |
T |
C |
2: 24,945,073 (GRCm39) |
|
probably null |
Het |
| Oprl1 |
C |
T |
2: 181,360,795 (GRCm39) |
R257C |
probably damaging |
Het |
| Or51q1 |
A |
T |
7: 103,628,581 (GRCm39) |
M61L |
probably damaging |
Het |
| Or5a1 |
T |
A |
19: 12,097,420 (GRCm39) |
I219F |
probably benign |
Het |
| Pcdhgc3 |
T |
A |
18: 37,940,638 (GRCm39) |
N346K |
probably damaging |
Het |
| Pcnt |
G |
A |
10: 76,190,911 (GRCm39) |
P2791S |
probably benign |
Het |
| Pdia3 |
A |
G |
2: 121,244,620 (GRCm39) |
N11S |
probably benign |
Het |
| Pik3c2g |
A |
T |
6: 139,841,928 (GRCm39) |
T778S |
probably benign |
Het |
| Pik3ip1 |
T |
A |
11: 3,283,520 (GRCm39) |
I75N |
probably damaging |
Het |
| Pla2g4d |
A |
T |
2: 120,112,176 (GRCm39) |
Y118* |
probably null |
Het |
| Ppargc1b |
A |
G |
18: 61,440,336 (GRCm39) |
S845P |
probably damaging |
Het |
| Prdm2 |
A |
T |
4: 142,905,937 (GRCm39) |
L50* |
probably null |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Pxdn |
G |
A |
12: 30,053,140 (GRCm39) |
V926I |
probably benign |
Het |
| Rab11fip2 |
A |
T |
19: 59,925,799 (GRCm39) |
N139K |
probably damaging |
Het |
| Rcn2 |
T |
A |
9: 55,960,300 (GRCm39) |
M189K |
probably damaging |
Het |
| Rhbg |
C |
A |
3: 88,152,441 (GRCm39) |
G368C |
probably damaging |
Het |
| Rnf214 |
A |
G |
9: 45,811,042 (GRCm39) |
|
probably null |
Het |
| Sf3a3 |
T |
C |
4: 124,618,959 (GRCm39) |
S307P |
probably benign |
Het |
| Slc6a18 |
T |
A |
13: 73,814,442 (GRCm39) |
Y494F |
probably damaging |
Het |
| Son |
T |
C |
16: 91,454,552 (GRCm39) |
S1100P |
probably damaging |
Het |
| Spag16 |
T |
G |
1: 69,892,511 (GRCm39) |
N97K |
probably benign |
Het |
| Tmem192 |
T |
C |
8: 65,412,163 (GRCm39) |
V114A |
possibly damaging |
Het |
| Urb1 |
G |
T |
16: 90,553,059 (GRCm39) |
P1901T |
probably benign |
Het |
| Vwa5b2 |
A |
G |
16: 20,419,459 (GRCm39) |
T601A |
probably damaging |
Het |
| Wdtc1 |
G |
T |
4: 133,036,162 (GRCm39) |
T126K |
possibly damaging |
Het |
| Xirp2 |
T |
C |
2: 67,356,014 (GRCm39) |
Y3592H |
possibly damaging |
Het |
| Xylt2 |
A |
T |
11: 94,560,842 (GRCm39) |
V232E |
probably damaging |
Het |
|
| Other mutations in Rev1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00896:Rev1
|
APN |
1 |
38,138,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01065:Rev1
|
APN |
1 |
38,138,090 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01393:Rev1
|
APN |
1 |
38,131,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03003:Rev1
|
APN |
1 |
38,127,154 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
H8562:Rev1
|
UTSW |
1 |
38,095,848 (GRCm39) |
missense |
probably damaging |
0.96 |
|
PIT1430001:Rev1
|
UTSW |
1 |
38,095,337 (GRCm39) |
unclassified |
probably benign |
|
|
R0409:Rev1
|
UTSW |
1 |
38,113,449 (GRCm39) |
nonsense |
probably null |
|
|
R0606:Rev1
|
UTSW |
1 |
38,098,204 (GRCm39) |
missense |
probably null |
1.00 |
|
R1134:Rev1
|
UTSW |
1 |
38,096,768 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1171:Rev1
|
UTSW |
1 |
38,127,581 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1208:Rev1
|
UTSW |
1 |
38,098,199 (GRCm39) |
unclassified |
probably benign |
|
|
R1440:Rev1
|
UTSW |
1 |
38,127,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1485:Rev1
|
UTSW |
1 |
38,127,653 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1627:Rev1
|
UTSW |
1 |
38,094,571 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3845:Rev1
|
UTSW |
1 |
38,138,069 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3948:Rev1
|
UTSW |
1 |
38,113,414 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4074:Rev1
|
UTSW |
1 |
38,093,319 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4075:Rev1
|
UTSW |
1 |
38,093,319 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4076:Rev1
|
UTSW |
1 |
38,093,319 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4248:Rev1
|
UTSW |
1 |
38,146,729 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4293:Rev1
|
UTSW |
1 |
38,147,500 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4548:Rev1
|
UTSW |
1 |
38,098,275 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4610:Rev1
|
UTSW |
1 |
38,092,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4654:Rev1
|
UTSW |
1 |
38,118,337 (GRCm39) |
intron |
probably benign |
|
|
R5286:Rev1
|
UTSW |
1 |
38,094,407 (GRCm39) |
nonsense |
probably null |
|
|
R5311:Rev1
|
UTSW |
1 |
38,118,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5327:Rev1
|
UTSW |
1 |
38,147,532 (GRCm39) |
nonsense |
probably null |
|
|
R6363:Rev1
|
UTSW |
1 |
38,110,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7050:Rev1
|
UTSW |
1 |
38,093,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7072:Rev1
|
UTSW |
1 |
38,106,626 (GRCm39) |
nonsense |
probably null |
|
|
R7132:Rev1
|
UTSW |
1 |
38,110,530 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7264:Rev1
|
UTSW |
1 |
38,124,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7298:Rev1
|
UTSW |
1 |
38,092,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7367:Rev1
|
UTSW |
1 |
38,113,488 (GRCm39) |
nonsense |
probably null |
|
|
R7395:Rev1
|
UTSW |
1 |
38,127,146 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7829:Rev1
|
UTSW |
1 |
38,095,526 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8053:Rev1
|
UTSW |
1 |
38,102,222 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8093:Rev1
|
UTSW |
1 |
38,114,097 (GRCm39) |
intron |
probably benign |
|
|
R8356:Rev1
|
UTSW |
1 |
38,098,324 (GRCm39) |
nonsense |
probably null |
|
|
R8456:Rev1
|
UTSW |
1 |
38,098,324 (GRCm39) |
nonsense |
probably null |
|
|
R8461:Rev1
|
UTSW |
1 |
38,122,868 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8724:Rev1
|
UTSW |
1 |
38,127,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8757:Rev1
|
UTSW |
1 |
38,098,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8759:Rev1
|
UTSW |
1 |
38,098,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8945:Rev1
|
UTSW |
1 |
38,122,824 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9309:Rev1
|
UTSW |
1 |
38,093,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9433:Rev1
|
UTSW |
1 |
38,092,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9500:Rev1
|
UTSW |
1 |
38,102,214 (GRCm39) |
nonsense |
probably null |
|
|
X0017:Rev1
|
UTSW |
1 |
38,092,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGCTGTGCACAATACCTGG -3'
(R):5'- GCCAGAGGTCAAGTTTTACAAG -3'
Sequencing Primer
(F):5'- TGCACAATACCTGGCCAGTG -3'
(R):5'- GAGGTCAAGTTTTACAAGTGTTTAGC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation