Incidental Mutation 'R4076:Rev1'
| ID |
316545 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rev1
|
| Ensembl Gene |
ENSMUSG00000026082 |
| Gene Name |
REV1, DNA directed polymerase |
| Synonyms |
1110027I23Rik, Rev1l, REV1 |
| MMRRC Submission |
040975-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.921)
|
| Stock # |
R4076 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
38091867-38168882 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 38093319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Threonine
at position 1075
(K1075T)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000027251
AA Change: K1075T
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000027251
Gene: ENSMUSG00000026082
AA Change: K1075T
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192548
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193008
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193113
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194650
|
| Meta Mutation Damage Score |
0.0621 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
T |
A |
7: 119,297,981 (GRCm39) |
L206H |
probably benign |
Het |
| Adam34l |
A |
T |
8: 44,079,387 (GRCm39) |
F279Y |
probably damaging |
Het |
| Anxa5 |
T |
C |
3: 36,504,529 (GRCm39) |
I277V |
probably benign |
Het |
| Atg12 |
A |
G |
18: 46,870,491 (GRCm39) |
F92L |
probably benign |
Het |
| Cd48 |
T |
A |
1: 171,523,451 (GRCm39) |
V98D |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,009,413 (GRCm39) |
M2083T |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,975,730 (GRCm39) |
T1440A |
probably benign |
Het |
| Dnali1 |
T |
C |
4: 124,953,263 (GRCm39) |
D188G |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,231,350 (GRCm39) |
E2656G |
probably benign |
Het |
| Eps15l1 |
A |
G |
8: 73,134,128 (GRCm39) |
I482T |
probably damaging |
Het |
| Ercc4 |
G |
A |
16: 12,948,549 (GRCm39) |
V499I |
probably damaging |
Het |
| Eva1c |
T |
A |
16: 90,701,019 (GRCm39) |
F331Y |
probably damaging |
Het |
| Fcho1 |
T |
C |
8: 72,163,013 (GRCm39) |
H672R |
probably damaging |
Het |
| Fras1 |
G |
C |
5: 96,891,017 (GRCm39) |
D2849H |
probably damaging |
Het |
| Hdc |
C |
T |
2: 126,458,181 (GRCm39) |
R47Q |
possibly damaging |
Het |
| Ighv1-30 |
C |
T |
12: 114,781,021 (GRCm39) |
|
noncoding transcript |
Het |
| Krtap31-1 |
T |
C |
11: 99,799,058 (GRCm39) |
I87T |
possibly damaging |
Het |
| Lamp3 |
A |
G |
16: 19,519,466 (GRCm39) |
L239P |
possibly damaging |
Het |
| Ltb4r2 |
A |
T |
14: 56,000,398 (GRCm39) |
R340W |
probably benign |
Het |
| Map10 |
T |
C |
8: 126,398,584 (GRCm39) |
V659A |
probably benign |
Het |
| Nars2 |
T |
A |
7: 96,607,301 (GRCm39) |
S91T |
probably damaging |
Het |
| Nlrp4c |
A |
G |
7: 6,075,709 (GRCm39) |
K667E |
probably benign |
Het |
| Obox3 |
G |
T |
7: 15,359,724 (GRCm39) |
T315N |
possibly damaging |
Het |
| Or52e18 |
A |
T |
7: 104,609,923 (GRCm39) |
N5K |
probably damaging |
Het |
| Or5b3 |
G |
A |
19: 13,388,299 (GRCm39) |
R122H |
possibly damaging |
Het |
| Osgin1 |
A |
C |
8: 120,171,772 (GRCm39) |
S189R |
possibly damaging |
Het |
| Pidd1 |
A |
G |
7: 141,020,739 (GRCm39) |
F453L |
probably damaging |
Het |
| Pik3c2g |
A |
T |
6: 139,798,589 (GRCm39) |
N373I |
probably damaging |
Het |
| Pou2f2 |
T |
C |
7: 24,796,713 (GRCm39) |
T270A |
probably damaging |
Het |
| Rad51b |
T |
G |
12: 79,361,656 (GRCm39) |
S122R |
probably damaging |
Het |
| Rrbp1 |
T |
G |
2: 143,805,030 (GRCm39) |
Q1045P |
probably benign |
Het |
| Scg2 |
A |
C |
1: 79,414,574 (GRCm39) |
F50V |
probably damaging |
Het |
| Slco1a5 |
A |
T |
6: 142,213,950 (GRCm39) |
I57K |
possibly damaging |
Het |
| Tfb1m |
T |
A |
17: 3,571,945 (GRCm39) |
R257W |
probably damaging |
Het |
| Tm2d3 |
T |
A |
7: 65,347,498 (GRCm39) |
L49* |
probably null |
Het |
| Usp31 |
A |
G |
7: 121,267,005 (GRCm39) |
|
probably null |
Het |
| Zbtb11 |
C |
T |
16: 55,818,427 (GRCm39) |
T617I |
possibly damaging |
Het |
| Zfp608 |
A |
T |
18: 55,031,180 (GRCm39) |
V920E |
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 |
|
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 |
|
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'- TGAACGAGAATGCTGTATTCAGAC -3'
(R):5'- TTTATGCCTTAAGCCACGGC -3'
Sequencing Primer
(F):5'- CTGTATTCAGACAGTGTCAAGTAC -3'
(R):5'- GCGTGCCTGGCCTTCTTTC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation