Incidental Mutation 'R7264:Rev1'
| ID |
564785 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rev1
|
| Ensembl Gene |
ENSMUSG00000026082 |
| Gene Name |
REV1, DNA directed polymerase |
| Synonyms |
1110027I23Rik, Rev1l, REV1 |
| MMRRC Submission |
045354-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.918)
|
| Stock # |
R7264 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
38091867-38168882 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 38124682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 420
(V420D)
|
| 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: V420D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027251
Gene: ENSMUSG00000026082
AA Change: V420D
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora3 |
C |
A |
3: 105,812,141 (GRCm39) |
T9K |
probably benign |
Het |
| Ankib1 |
T |
A |
5: 3,805,739 (GRCm39) |
N176I |
probably damaging |
Het |
| Ankle2 |
G |
A |
5: 110,385,689 (GRCm39) |
G346D |
probably damaging |
Het |
| Anks1b |
T |
A |
10: 90,348,732 (GRCm39) |
M800K |
probably benign |
Het |
| Arhgef16 |
C |
T |
4: 154,365,387 (GRCm39) |
G576D |
probably damaging |
Het |
| C2cd2 |
C |
A |
16: 97,677,419 (GRCm39) |
|
probably null |
Het |
| Cacna1c |
T |
C |
6: 118,579,156 (GRCm39) |
N1847S |
|
Het |
| Camta1 |
A |
G |
4: 151,537,856 (GRCm39) |
I108T |
probably damaging |
Het |
| Catsper4 |
TTCTC |
TTC |
4: 133,954,423 (GRCm39) |
|
probably null |
Het |
| Cep192 |
A |
G |
18: 67,953,426 (GRCm39) |
Y481C |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,821,071 (GRCm39) |
E887G |
probably damaging |
Het |
| Clcn1 |
C |
A |
6: 42,275,772 (GRCm39) |
A298D |
probably damaging |
Het |
| Col11a1 |
A |
G |
3: 113,979,248 (GRCm39) |
N1305S |
unknown |
Het |
| Depdc5 |
T |
C |
5: 33,125,089 (GRCm39) |
V1155A |
probably benign |
Het |
| Dnah1 |
A |
T |
14: 30,991,851 (GRCm39) |
D3050E |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,557,973 (GRCm39) |
D2147G |
probably benign |
Het |
| Fbxl4 |
T |
C |
4: 22,386,145 (GRCm39) |
Y251H |
possibly damaging |
Het |
| Gm19410 |
A |
G |
8: 36,252,920 (GRCm39) |
M622V |
probably benign |
Het |
| Gm3402 |
T |
A |
5: 146,451,472 (GRCm39) |
M110K |
probably damaging |
Het |
| Gm8257 |
T |
A |
14: 44,893,817 (GRCm39) |
E82D |
probably damaging |
Het |
| Gne |
T |
A |
4: 44,042,175 (GRCm39) |
I498F |
probably damaging |
Het |
| Grep1 |
A |
G |
17: 23,931,308 (GRCm39) |
S200P |
not run |
Het |
| Gstcd |
C |
T |
3: 132,790,540 (GRCm39) |
V76I |
probably benign |
Het |
| Hgs |
G |
T |
11: 120,365,139 (GRCm39) |
V176L |
probably benign |
Het |
| Hrob |
T |
A |
11: 102,146,422 (GRCm39) |
C233S |
probably benign |
Het |
| Igbp1b |
T |
C |
6: 138,635,108 (GRCm39) |
N112S |
possibly damaging |
Het |
| Itga11 |
A |
T |
9: 62,653,190 (GRCm39) |
T355S |
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,050,292 (GRCm39) |
H301L |
|
Het |
| Lhx9 |
T |
C |
1: 138,760,489 (GRCm39) |
D296G |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,427,962 (GRCm39) |
G537D |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,950,844 (GRCm39) |
I581V |
possibly damaging |
Het |
| Mrps36 |
A |
G |
13: 100,875,707 (GRCm39) |
S36P |
probably benign |
Het |
| Or52z13 |
T |
A |
7: 103,246,955 (GRCm39) |
I144N |
probably damaging |
Het |
| Plcb4 |
A |
T |
2: 135,807,000 (GRCm39) |
N547I |
probably benign |
Het |
| Plch2 |
T |
A |
4: 155,083,424 (GRCm39) |
M505L |
probably damaging |
Het |
| Prg4 |
T |
A |
1: 150,329,818 (GRCm39) |
N154Y |
not run |
Het |
| Rin3 |
A |
G |
12: 102,356,374 (GRCm39) |
I972V |
probably benign |
Het |
| Rtel1 |
T |
C |
2: 180,993,654 (GRCm39) |
L775P |
not run |
Het |
| Scarf2 |
G |
T |
16: 17,621,154 (GRCm39) |
C274F |
possibly damaging |
Het |
| Serinc2 |
C |
T |
4: 130,152,052 (GRCm39) |
V271I |
probably benign |
Het |
| Slpi |
C |
A |
2: 164,198,322 (GRCm39) |
|
probably benign |
Het |
| Spopfm1 |
C |
T |
3: 94,173,045 (GRCm39) |
H14Y |
possibly damaging |
Het |
| Stxbp6 |
T |
C |
12: 44,948,782 (GRCm39) |
D109G |
probably damaging |
Het |
| Tmem74 |
G |
A |
15: 43,730,864 (GRCm39) |
L60F |
probably benign |
Het |
| Trhde |
C |
T |
10: 114,636,776 (GRCm39) |
G144S |
possibly damaging |
Het |
| Trrap |
T |
C |
5: 144,751,333 (GRCm39) |
S1610P |
probably benign |
Het |
| Ttc33 |
C |
T |
15: 5,246,718 (GRCm39) |
Q175* |
probably null |
Het |
| Usp34 |
A |
G |
11: 23,283,566 (GRCm39) |
T106A |
probably benign |
Het |
| Vmn1r204 |
A |
G |
13: 22,741,167 (GRCm39) |
D266G |
probably benign |
Het |
| Wdfy3 |
C |
A |
5: 102,003,389 (GRCm39) |
A2905S |
probably benign |
Het |
| Wfs1 |
A |
G |
5: 37,125,190 (GRCm39) |
L567P |
probably damaging |
Het |
| Zfp42 |
T |
C |
8: 43,749,312 (GRCm39) |
E63G |
probably damaging |
Het |
| Zfp957 |
A |
G |
14: 79,451,080 (GRCm39) |
F240L |
probably damaging |
Het |
| Zgrf1 |
A |
T |
3: 127,357,218 (GRCm39) |
M815L |
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 |
|
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'- TTTTCCTACACCTGTGATAATGGAG -3'
(R):5'- ATTTGTTTATTGGGGCAGTACACAG -3'
Sequencing Primer
(F):5'- CTACACCTGTGATAATGGAGTCCAG -3'
(R):5'- GGCAGTACACAGTCCGTAATATATTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation