Incidental Mutation 'R7050:Rev1'
| ID |
547508 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rev1
|
| Ensembl Gene |
ENSMUSG00000026082 |
| Gene Name |
REV1, DNA directed polymerase |
| Synonyms |
1110027I23Rik, Rev1l, REV1 |
| MMRRC Submission |
045241-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.918)
|
| Stock # |
R7050 (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 G
at 38093352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1064
(L1064P)
|
| 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 damaging
Transcript: ENSMUST00000027251
AA Change: L1064P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027251
Gene: ENSMUSG00000026082
AA Change: L1064P
| 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 |
|
| Meta Mutation Damage Score |
0.1372 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
96% (47/49) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
A |
11: 109,864,544 (GRCm39) |
A346V |
possibly damaging |
Het |
| Adcy5 |
A |
T |
16: 35,124,070 (GRCm39) |
M1250L |
possibly damaging |
Het |
| Arhgef38 |
T |
C |
3: 132,839,388 (GRCm39) |
|
probably benign |
Het |
| Ascc3 |
T |
A |
10: 50,716,446 (GRCm39) |
I1944N |
probably benign |
Het |
| Cabin1 |
G |
T |
10: 75,549,376 (GRCm39) |
P1343Q |
probably damaging |
Het |
| Cbr3 |
A |
T |
16: 93,487,282 (GRCm39) |
Q155L |
possibly damaging |
Het |
| Cd44 |
A |
G |
2: 102,644,482 (GRCm39) |
V577A |
probably damaging |
Het |
| Coil |
C |
T |
11: 88,872,014 (GRCm39) |
T125I |
possibly damaging |
Het |
| Fmo3 |
T |
C |
1: 162,791,473 (GRCm39) |
N268S |
probably damaging |
Het |
| Fnip2 |
T |
C |
3: 79,413,577 (GRCm39) |
T248A |
probably damaging |
Het |
| Ggt7 |
G |
A |
2: 155,348,295 (GRCm39) |
T43I |
probably benign |
Het |
| Gm3250 |
C |
A |
10: 77,617,814 (GRCm39) |
C188F |
possibly damaging |
Het |
| Iqce |
G |
A |
5: 140,651,846 (GRCm39) |
S375F |
possibly damaging |
Het |
| Iqgap3 |
A |
G |
3: 88,006,220 (GRCm39) |
T544A |
probably damaging |
Het |
| Islr |
A |
G |
9: 58,065,000 (GRCm39) |
L169P |
probably damaging |
Het |
| Kdr |
G |
T |
5: 76,110,780 (GRCm39) |
T904N |
probably damaging |
Het |
| Mink1 |
A |
G |
11: 70,503,158 (GRCm39) |
T974A |
possibly damaging |
Het |
| Mms19 |
A |
G |
19: 41,939,185 (GRCm39) |
|
probably null |
Het |
| Mycl |
T |
C |
4: 122,890,813 (GRCm39) |
|
probably null |
Het |
| Nab1 |
A |
T |
1: 52,529,894 (GRCm39) |
M1K |
probably null |
Het |
| Naip6 |
C |
T |
13: 100,452,007 (GRCm39) |
G202R |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,457,788 (GRCm39) |
S2159L |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,112,888 (GRCm39) |
M4302K |
possibly damaging |
Het |
| Npy1r |
A |
G |
8: 67,157,192 (GRCm39) |
D204G |
probably benign |
Het |
| Or2q1 |
T |
A |
6: 42,794,504 (GRCm39) |
V33D |
possibly damaging |
Het |
| Pkdcc |
T |
A |
17: 83,523,073 (GRCm39) |
I60N |
possibly damaging |
Het |
| Plcxd3 |
T |
C |
15: 4,546,200 (GRCm39) |
V68A |
probably damaging |
Het |
| Prss36 |
G |
T |
7: 127,543,937 (GRCm39) |
R145S |
possibly damaging |
Het |
| Pygl |
C |
A |
12: 70,266,396 (GRCm39) |
G40C |
probably damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Serpina3k |
T |
C |
12: 104,307,403 (GRCm39) |
F212L |
possibly damaging |
Het |
| Slc16a4 |
A |
T |
3: 107,208,148 (GRCm39) |
E219D |
probably benign |
Het |
| Slc6a20b |
A |
T |
9: 123,427,608 (GRCm39) |
W434R |
probably damaging |
Het |
| Slco1c1 |
T |
A |
6: 141,493,652 (GRCm39) |
F278Y |
probably damaging |
Het |
| Tbx21 |
T |
G |
11: 97,005,596 (GRCm39) |
D123A |
probably benign |
Het |
| Trp73 |
A |
G |
4: 154,165,899 (GRCm39) |
F35L |
probably damaging |
Het |
| Tspan17 |
T |
C |
13: 54,943,876 (GRCm39) |
V135A |
probably benign |
Het |
| Uba2 |
G |
A |
7: 33,845,687 (GRCm39) |
Q479* |
probably null |
Het |
| Ubr2 |
A |
G |
17: 47,272,528 (GRCm39) |
V889A |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,590,067 (GRCm39) |
|
probably null |
Het |
| Vinac1 |
T |
C |
2: 128,869,891 (GRCm39) |
|
probably null |
Het |
| Vmn1r45 |
A |
T |
6: 89,910,703 (GRCm39) |
I89N |
probably damaging |
Het |
| Vmn2r11 |
A |
G |
5: 109,202,657 (GRCm39) |
I140T |
probably benign |
Het |
| Yipf2 |
A |
T |
9: 21,503,474 (GRCm39) |
D24E |
probably benign |
Het |
| Zfp251 |
T |
G |
15: 76,738,496 (GRCm39) |
Q199P |
possibly damaging |
Het |
| Zfp37 |
A |
T |
4: 62,109,908 (GRCm39) |
N385K |
possibly damaging |
Het |
| Zfp655 |
G |
A |
5: 145,181,545 (GRCm39) |
E468K |
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 |
|
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'- AGCTCGGAGGACTTTATGCC -3'
Sequencing Primer
(F):5'- CAGTTACCAGGGGTCTCTCTGAAG -3'
(R):5'- GGAGGACTTTATGCCTTAAGCCAC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation