Incidental Mutation 'R8356:Rev1'
| ID |
645749 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rev1
|
| Ensembl Gene |
ENSMUSG00000026082 |
| Gene Name |
REV1, DNA directed polymerase |
| Synonyms |
1110027I23Rik, Rev1l, REV1 |
| MMRRC Submission |
067870-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.921)
|
| Stock # |
R8356 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
38091867-38168882 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 38098324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 740
(R740*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027251
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027251]
[ENSMUST00000027252]
|
| 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 null
Transcript: ENSMUST00000027251
AA Change: R740*
|
| SMART Domains |
Protein: ENSMUSP00000027251
Gene: ENSMUSG00000026082
AA Change: R740*
| 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 |
probably benign
Transcript: ENSMUST00000027252
|
| SMART Domains |
Protein: ENSMUSP00000027252
Gene: ENSMUSG00000026083
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
145 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
193 |
N/A |
INTRINSIC |
|
coiled coil region
|
227 |
272 |
N/A |
INTRINSIC |
|
coiled coil region
|
301 |
414 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
498 |
N/A |
INTRINSIC |
|
coiled coil region
|
523 |
554 |
N/A |
INTRINSIC |
|
low complexity region
|
580 |
594 |
N/A |
INTRINSIC |
|
Pfam:GTP_EFTU
|
625 |
840 |
4.7e-35 |
PFAM |
|
Pfam:MMR_HSR1
|
629 |
753 |
5.1e-6 |
PFAM |
|
Pfam:GTP_EFTU_D2
|
866 |
944 |
7.1e-11 |
PFAM |
|
Pfam:IF-2
|
959 |
1066 |
1.4e-20 |
PFAM |
|
Blast:S1
|
1116 |
1172 |
2e-6 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
A |
G |
10: 79,842,360 (GRCm39) |
E1098G |
probably benign |
Het |
| Akap1 |
T |
A |
11: 88,725,557 (GRCm39) |
|
probably null |
Het |
| Arhgap26 |
T |
C |
18: 39,244,901 (GRCm39) |
V182A |
possibly damaging |
Het |
| Arhgef19 |
A |
G |
4: 140,977,926 (GRCm39) |
K545R |
probably benign |
Het |
| Asph |
C |
T |
4: 9,537,722 (GRCm39) |
R352Q |
probably benign |
Het |
| B3glct |
T |
A |
5: 149,650,254 (GRCm39) |
I119N |
probably damaging |
Het |
| Bltp3b |
A |
G |
10: 89,647,954 (GRCm39) |
T1339A |
probably benign |
Het |
| Camsap3 |
C |
T |
8: 3,650,679 (GRCm39) |
R236* |
probably null |
Het |
| Ccser2 |
A |
T |
14: 36,612,331 (GRCm39) |
M792K |
probably benign |
Het |
| Ceacam5 |
C |
T |
7: 17,479,624 (GRCm39) |
T247I |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 66,047,764 (GRCm39) |
S19P |
probably damaging |
Het |
| Dtwd1 |
A |
G |
2: 126,000,451 (GRCm39) |
E129G |
probably damaging |
Het |
| Ebf3 |
T |
A |
7: 136,800,916 (GRCm39) |
M490L |
probably benign |
Het |
| Erbb4 |
A |
G |
1: 68,110,789 (GRCm39) |
L1008S |
probably damaging |
Het |
| Ereg |
C |
T |
5: 91,237,993 (GRCm39) |
P160S |
possibly damaging |
Het |
| Exoc6b |
ATTT |
ATTTT |
6: 84,821,077 (GRCm39) |
|
probably null |
Het |
| Fmn1 |
A |
G |
2: 113,195,385 (GRCm39) |
T362A |
unknown |
Het |
| Gm14326 |
A |
T |
2: 177,590,312 (GRCm39) |
D16E |
probably benign |
Het |
| H1f8 |
A |
T |
6: 115,925,745 (GRCm39) |
M181L |
probably benign |
Het |
| H3c1 |
A |
T |
13: 23,946,083 (GRCm39) |
F85Y |
probably damaging |
Het |
| Herc6 |
A |
T |
6: 57,575,548 (GRCm39) |
T190S |
probably benign |
Het |
| Lama1 |
T |
G |
17: 68,044,491 (GRCm39) |
I130S |
|
Het |
| Letm2 |
T |
C |
8: 26,071,729 (GRCm39) |
D391G |
probably damaging |
Het |
| Map3k9 |
T |
C |
12: 81,780,892 (GRCm39) |
I423V |
probably damaging |
Het |
| Melk |
T |
A |
4: 44,312,191 (GRCm39) |
C168S |
possibly damaging |
Het |
| Muc4 |
CAC |
CACTAC |
16: 32,575,367 (GRCm39) |
|
probably benign |
Het |
| Naa16 |
A |
T |
14: 79,596,915 (GRCm39) |
N356K |
probably benign |
Het |
| Nup214 |
A |
G |
2: 31,929,372 (GRCm39) |
N1873S |
probably benign |
Het |
| Or2y1f |
C |
T |
11: 49,184,385 (GRCm39) |
P79L |
probably damaging |
Het |
| Or8b41 |
T |
A |
9: 38,054,981 (GRCm39) |
C178* |
probably null |
Het |
| Pom121 |
A |
G |
5: 135,410,032 (GRCm39) |
F1042L |
unknown |
Het |
| Pramel51 |
T |
A |
12: 88,143,986 (GRCm39) |
T284S |
probably benign |
Het |
| Pxdn |
T |
C |
12: 30,061,889 (GRCm39) |
S1334P |
probably damaging |
Het |
| Ranbp1 |
C |
T |
16: 18,063,170 (GRCm39) |
E69K |
probably damaging |
Het |
| Rasl11a |
T |
C |
5: 146,782,045 (GRCm39) |
S7P |
probably damaging |
Het |
| Rnf157 |
C |
T |
11: 116,240,246 (GRCm39) |
V443M |
probably benign |
Het |
| Scn3a |
T |
A |
2: 65,291,017 (GRCm39) |
T1910S |
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Siah2 |
T |
C |
3: 58,583,503 (GRCm39) |
N261S |
probably benign |
Het |
| Sumf2 |
T |
G |
5: 129,889,003 (GRCm39) |
W264G |
possibly damaging |
Het |
| Tal1 |
G |
T |
4: 114,920,625 (GRCm39) |
A100S |
probably benign |
Het |
| Tox2 |
G |
T |
2: 163,046,550 (GRCm39) |
R9L |
unknown |
Het |
| Traj46 |
A |
G |
14: 54,409,795 (GRCm39) |
E1G |
|
Het |
| Unc80 |
A |
G |
1: 66,680,788 (GRCm39) |
D2128G |
possibly damaging |
Het |
| Usp21 |
A |
T |
1: 171,112,290 (GRCm39) |
F308I |
probably damaging |
Het |
| Vgf |
A |
T |
5: 137,061,265 (GRCm39) |
I476F |
probably damaging |
Het |
| Vmn1r142 |
T |
A |
7: 21,862,748 (GRCm39) |
H238L |
probably benign |
Het |
| Vps35 |
G |
A |
8: 85,987,934 (GRCm39) |
T739I |
possibly damaging |
Het |
| Wdr95 |
G |
T |
5: 149,502,572 (GRCm39) |
C279F |
probably damaging |
Het |
| Zbtb32 |
T |
C |
7: 30,289,381 (GRCm39) |
S94G |
unknown |
Het |
| Zdhhc13 |
T |
A |
7: 48,452,747 (GRCm39) |
I153N |
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 |
|
|
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 |
|
|
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'- CTGCTTAACAACACCAGGATTG -3'
(R):5'- TCAAGGTGTATGCACAGTGTG -3'
Sequencing Primer
(F):5'- CAGGATTGGTAAGTTGTAACTCAAAC -3'
(R):5'- CACAGTGTGTGTTTTAAGTCAATGC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation