Incidental Mutation 'R8461:Rev1'
| ID |
655249 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rev1
|
| Ensembl Gene |
ENSMUSG00000026082 |
| Gene Name |
REV1, DNA directed polymerase |
| Synonyms |
1110027I23Rik, Rev1l, REV1 |
| MMRRC Submission |
067837-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.918)
|
| Stock # |
R8461 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
38091867-38168882 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 38122868 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 450
(T450K)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000027251
AA Change: T450K
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000027251
Gene: ENSMUSG00000026082
AA Change: T450K
| 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 |
probably benign
Transcript: ENSMUST00000194815
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
G |
T |
17: 48,400,849 (GRCm39) |
E45* |
probably null |
Het |
| 4921539E11Rik |
T |
C |
4: 103,112,712 (GRCm39) |
D132G |
probably benign |
Het |
| Abca16 |
T |
C |
7: 120,035,918 (GRCm39) |
F334L |
possibly damaging |
Het |
| Ache |
T |
C |
5: 137,288,582 (GRCm39) |
F96S |
probably damaging |
Het |
| Actg1 |
T |
C |
11: 120,239,010 (GRCm39) |
T27A |
unknown |
Het |
| Ankrd27 |
T |
C |
7: 35,326,911 (GRCm39) |
L752P |
probably damaging |
Het |
| Atp1a1 |
T |
A |
3: 101,496,405 (GRCm39) |
T417S |
probably benign |
Het |
| Atp6v0a1 |
T |
G |
11: 100,935,400 (GRCm39) |
L653R |
possibly damaging |
Het |
| Aurkb |
T |
C |
11: 68,941,727 (GRCm39) |
V293A |
probably damaging |
Het |
| C2cd5 |
A |
T |
6: 142,980,802 (GRCm39) |
D654E |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,001,440 (GRCm39) |
V297A |
possibly damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,404,744 (GRCm39) |
D773G |
possibly damaging |
Het |
| Ccdc187 |
A |
G |
2: 26,183,814 (GRCm39) |
L62P |
probably damaging |
Het |
| Cdh2 |
A |
G |
18: 16,783,522 (GRCm39) |
V69A |
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 103,998,280 (GRCm39) |
V1156A |
possibly damaging |
Het |
| Defb37 |
G |
A |
8: 19,036,386 (GRCm39) |
H45Y |
unknown |
Het |
| Dgke |
T |
C |
11: 88,939,819 (GRCm39) |
M367V |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 31,027,915 (GRCm39) |
K640R |
probably benign |
Het |
| Gm5478 |
A |
T |
15: 101,554,652 (GRCm39) |
L148Q |
probably damaging |
Het |
| Hhla1 |
A |
T |
15: 65,795,723 (GRCm39) |
S494R |
probably benign |
Het |
| Kcne4 |
G |
A |
1: 78,795,433 (GRCm39) |
S27N |
probably benign |
Het |
| Klhdc7b |
A |
T |
15: 89,271,824 (GRCm39) |
H244L |
probably damaging |
Het |
| Lrrc40 |
T |
C |
3: 157,764,371 (GRCm39) |
S429P |
possibly damaging |
Het |
| Map3k21 |
A |
T |
8: 126,671,361 (GRCm39) |
D883V |
probably benign |
Het |
| Med4 |
T |
C |
14: 73,755,468 (GRCm39) |
S259P |
unknown |
Het |
| Mrm3 |
T |
C |
11: 76,135,158 (GRCm39) |
I123T |
probably damaging |
Het |
| Mrpl1 |
T |
A |
5: 96,361,646 (GRCm39) |
V11D |
probably damaging |
Het |
| Myl1 |
G |
A |
1: 66,983,994 (GRCm39) |
P24L |
unknown |
Het |
| Necap2 |
T |
C |
4: 140,797,531 (GRCm39) |
K168R |
probably damaging |
Het |
| Nnt |
A |
G |
13: 119,505,038 (GRCm39) |
S559P |
unknown |
Het |
| Nox4 |
T |
C |
7: 86,966,479 (GRCm39) |
F197L |
probably damaging |
Het |
| Nup93 |
T |
C |
8: 95,007,963 (GRCm39) |
|
probably null |
Het |
| Nxph2 |
T |
C |
2: 23,211,529 (GRCm39) |
V10A |
unknown |
Het |
| Or1e16 |
T |
A |
11: 73,285,982 (GRCm39) |
I289F |
probably damaging |
Het |
| Or8c11 |
T |
A |
9: 38,289,777 (GRCm39) |
V194D |
probably damaging |
Het |
| Or8k38 |
G |
A |
2: 86,487,890 (GRCm39) |
T304I |
probably benign |
Het |
| P2ry2 |
G |
T |
7: 100,647,895 (GRCm39) |
R137S |
possibly damaging |
Het |
| Plxnb3 |
T |
C |
X: 72,803,103 (GRCm39) |
Y324H |
probably damaging |
Het |
| Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
| Ppme1 |
T |
C |
7: 100,021,012 (GRCm39) |
S7G |
probably benign |
Het |
| Rabep1 |
T |
A |
11: 70,775,681 (GRCm39) |
M85K |
possibly damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,312,216 (GRCm39) |
Y979H |
probably damaging |
Het |
| Rapgef5 |
T |
C |
12: 117,677,844 (GRCm39) |
S360P |
probably benign |
Het |
| Rbm33 |
T |
A |
5: 28,592,970 (GRCm39) |
H623Q |
probably damaging |
Het |
| Sec23ip |
T |
A |
7: 128,373,926 (GRCm39) |
L716Q |
probably benign |
Het |
| Sp2 |
T |
C |
11: 96,846,739 (GRCm39) |
T535A |
possibly damaging |
Het |
| Syne1 |
A |
G |
10: 5,011,463 (GRCm39) |
S61P |
probably benign |
Het |
| Tcf4 |
T |
C |
18: 69,598,501 (GRCm39) |
V72A |
probably benign |
Het |
| Tmem131 |
G |
A |
1: 36,833,902 (GRCm39) |
S1726F |
probably damaging |
Het |
| Trim13 |
T |
C |
14: 61,842,921 (GRCm39) |
Y313H |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,611,437 (GRCm39) |
V17365A |
possibly damaging |
Het |
| Uap1l1 |
G |
A |
2: 25,255,422 (GRCm39) |
A69V |
probably benign |
Het |
| Upp2 |
A |
G |
2: 58,670,068 (GRCm39) |
D258G |
probably benign |
Het |
| Vmn1r44 |
A |
T |
6: 89,870,701 (GRCm39) |
H149L |
possibly damaging |
Het |
| Zbtb49 |
T |
C |
5: 38,358,453 (GRCm39) |
D600G |
probably benign |
Het |
| Zfp869 |
G |
T |
8: 70,160,305 (GRCm39) |
H89Q |
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 |
|
|
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'- TAGCATCCTTAAAGCCTTCAGC -3'
(R):5'- ACCTTAGGCGAGTTATATGGTGATG -3'
Sequencing Primer
(F):5'- GCCTTCAGCTTGGAAGAGC -3'
(R):5'- GCCTATGTGATTAAAGATCAAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation