Incidental Mutation 'R8945:Rev1'
| ID |
681218 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rev1
|
| Ensembl Gene |
ENSMUSG00000026082 |
| Gene Name |
REV1, DNA directed polymerase |
| Synonyms |
1110027I23Rik, Rev1l, REV1 |
| MMRRC Submission |
068713-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.921)
|
| Stock # |
R8945 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
38091867-38168882 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 38122824 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 465
(W465R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027251
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027251]
|
| AlphaFold |
Q920Q2 |
| 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: W465R
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027251
Gene: ENSMUSG00000026082
AA Change: W465R
| 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 |
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (57/57) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aopep |
G |
T |
13: 63,388,145 (GRCm39) |
K709N |
probably null |
Het |
| Aste1 |
G |
A |
9: 105,273,880 (GRCm39) |
C40Y |
probably benign |
Het |
| Atp6v0a2 |
G |
T |
5: 124,784,589 (GRCm39) |
A291S |
probably damaging |
Het |
| Bcl9l |
G |
T |
9: 44,412,238 (GRCm39) |
V38L |
possibly damaging |
Het |
| Bmp1 |
T |
C |
14: 70,727,630 (GRCm39) |
Y651C |
probably damaging |
Het |
| Btnl9 |
T |
C |
11: 49,065,661 (GRCm39) |
E398G |
probably benign |
Het |
| C2cd3 |
A |
T |
7: 100,040,286 (GRCm39) |
N285I |
possibly damaging |
Het |
| Cavin1 |
T |
C |
11: 100,849,659 (GRCm39) |
T324A |
probably damaging |
Het |
| Ccdc73 |
A |
G |
2: 104,821,712 (GRCm39) |
T554A |
probably benign |
Het |
| Clcn1 |
A |
T |
6: 42,263,701 (GRCm39) |
M1L |
possibly damaging |
Het |
| Clec18a |
A |
T |
8: 111,808,201 (GRCm39) |
S77T |
possibly damaging |
Het |
| Dhx32 |
A |
G |
7: 133,323,876 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
C |
G |
18: 50,072,639 (GRCm39) |
N2744K |
probably damaging |
Het |
| Dnah10 |
A |
C |
5: 124,891,006 (GRCm39) |
E3199A |
probably damaging |
Het |
| Dnah11 |
G |
T |
12: 117,987,718 (GRCm39) |
L2395I |
probably benign |
Het |
| Dthd1 |
A |
T |
5: 63,007,096 (GRCm39) |
Y599F |
probably benign |
Het |
| Dusp26 |
G |
A |
8: 31,586,367 (GRCm39) |
R196K |
unknown |
Het |
| Dyrk1a |
A |
G |
16: 94,466,866 (GRCm39) |
Y140C |
probably damaging |
Het |
| Elmo1 |
T |
A |
13: 20,766,438 (GRCm39) |
Y588* |
probably null |
Het |
| Eml6 |
T |
A |
11: 29,703,110 (GRCm39) |
T1603S |
probably damaging |
Het |
| Fam162b |
T |
C |
10: 51,466,469 (GRCm39) |
T17A |
probably benign |
Het |
| Fnbp1 |
T |
A |
2: 30,995,346 (GRCm39) |
K29N |
probably damaging |
Het |
| Fzd4 |
A |
T |
7: 89,056,792 (GRCm39) |
I280L |
possibly damaging |
Het |
| G3bp2 |
G |
A |
5: 92,216,281 (GRCm39) |
T85I |
probably damaging |
Het |
| Gm13283 |
C |
T |
4: 88,679,123 (GRCm39) |
A38V |
probably benign |
Het |
| Hps3 |
T |
A |
3: 20,068,224 (GRCm39) |
H610L |
probably damaging |
Het |
| Ifnlr1 |
T |
G |
4: 135,431,609 (GRCm39) |
L266R |
probably damaging |
Het |
| Jak1 |
A |
T |
4: 101,020,109 (GRCm39) |
D683E |
probably benign |
Het |
| Lrrc1 |
G |
A |
9: 77,342,373 (GRCm39) |
T412M |
probably damaging |
Het |
| Mdga1 |
G |
T |
17: 30,058,959 (GRCm39) |
|
probably benign |
Het |
| Med26 |
T |
C |
8: 73,250,934 (GRCm39) |
K55R |
probably benign |
Het |
| Mturn |
C |
A |
6: 54,666,017 (GRCm39) |
C63* |
probably null |
Het |
| Myo1h |
A |
C |
5: 114,470,784 (GRCm39) |
D381A |
probably damaging |
Het |
| Nectin1 |
A |
G |
9: 43,703,237 (GRCm39) |
D165G |
probably benign |
Het |
| Nktr |
T |
A |
9: 121,575,558 (GRCm39) |
D330E |
possibly damaging |
Het |
| Oprm1 |
A |
T |
10: 6,782,644 (GRCm39) |
|
probably benign |
Het |
| Papola |
T |
A |
12: 105,775,946 (GRCm39) |
|
probably benign |
Het |
| Pdcl2 |
A |
T |
5: 76,465,675 (GRCm39) |
C134S |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,639,039 (GRCm39) |
Y478C |
probably benign |
Het |
| Rp1 |
T |
A |
1: 4,419,817 (GRCm39) |
I432F |
probably benign |
Het |
| Samd14 |
A |
C |
11: 94,912,027 (GRCm39) |
D168A |
probably damaging |
Het |
| Sdk1 |
G |
T |
5: 141,598,935 (GRCm39) |
C200F |
probably benign |
Het |
| Spmip2 |
A |
G |
3: 79,252,812 (GRCm39) |
H9R |
probably benign |
Het |
| Spsb1 |
T |
C |
4: 149,991,475 (GRCm39) |
Y31C |
possibly damaging |
Het |
| Spz1 |
T |
C |
13: 92,711,499 (GRCm39) |
K326E |
possibly damaging |
Het |
| Tcaf1 |
C |
T |
6: 42,663,307 (GRCm39) |
S191N |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,064,724 (GRCm39) |
S1385G |
probably benign |
Het |
| Tmem38a |
C |
T |
8: 73,338,570 (GRCm39) |
A194V |
probably damaging |
Het |
| Trappc9 |
T |
C |
15: 72,929,945 (GRCm39) |
N137S |
probably benign |
Het |
| Tshr |
T |
C |
12: 91,504,997 (GRCm39) |
L645P |
probably damaging |
Het |
| Tspyl4 |
T |
A |
10: 34,173,461 (GRCm39) |
|
probably benign |
Het |
| Unc13a |
T |
A |
8: 72,100,597 (GRCm39) |
I1064F |
probably damaging |
Het |
| Utp20 |
G |
A |
10: 88,628,532 (GRCm39) |
Q921* |
probably null |
Het |
| Vps13a |
A |
T |
19: 16,642,114 (GRCm39) |
I2171N |
probably damaging |
Het |
| Zfp40 |
A |
G |
17: 23,401,201 (GRCm39) |
V14A |
probably benign |
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 |
|
|
R5032:Rev1
|
UTSW |
1 |
38,113,570 (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 |
|
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'- CTAGCATCCTTAAAGCCTTCAGC -3'
(R):5'- ACCTTAGGCGAGTTATATGGTGATG -3'
Sequencing Primer
(F):5'- GCCTTCAGCTTGGAAGAGC -3'
(R):5'- GAAGACTTAATGCCTATGTGA -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation