Incidental Mutation 'R6363:Rev1'
| ID |
512561 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rev1
|
| Ensembl Gene |
ENSMUSG00000026082 |
| Gene Name |
REV1, DNA directed polymerase |
| Synonyms |
1110027I23Rik, Rev1l, REV1 |
| MMRRC Submission |
044513-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.921)
|
| Stock # |
R6363 (G1)
|
| Quality Score |
224.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
38091867-38168882 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38110570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 560
(H560L)
|
| 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: H560L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027251
Gene: ENSMUSG00000026082
AA Change: H560L
| 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 |
noncoding transcript
Transcript: ENSMUST00000192697
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193472
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194650
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194815
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195028
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.9%
|
| Validation Efficiency |
98% (51/52) |
| 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 |
|---|
| Agbl4 |
A |
G |
4: 111,423,982 (GRCm39) |
|
probably benign |
Het |
| Antxrl |
G |
T |
14: 33,791,244 (GRCm39) |
C379F |
probably damaging |
Het |
| Camsap3 |
T |
C |
8: 3,651,971 (GRCm39) |
C256R |
probably damaging |
Het |
| Ccdc33 |
T |
C |
9: 58,021,618 (GRCm39) |
E254G |
probably benign |
Het |
| Ccndbp1 |
C |
T |
2: 120,843,454 (GRCm39) |
P282L |
probably damaging |
Het |
| Col5a1 |
C |
T |
2: 27,818,207 (GRCm39) |
T144I |
unknown |
Het |
| Csmd2 |
A |
T |
4: 128,294,172 (GRCm39) |
H1167L |
probably benign |
Het |
| Ctsk |
A |
T |
3: 95,408,862 (GRCm39) |
T82S |
probably damaging |
Het |
| Cyp3a41b |
A |
T |
5: 145,507,197 (GRCm39) |
F248I |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,407,679 (GRCm39) |
I2051T |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 118,001,331 (GRCm39) |
F871L |
probably benign |
Het |
| Eif2b4 |
A |
G |
5: 31,348,583 (GRCm39) |
V210A |
probably damaging |
Het |
| Eral1 |
A |
G |
11: 77,965,143 (GRCm39) |
I385T |
probably damaging |
Het |
| Ercc8 |
T |
C |
13: 108,320,404 (GRCm39) |
L330P |
probably damaging |
Het |
| Etfa |
A |
G |
9: 55,407,417 (GRCm39) |
V24A |
probably damaging |
Het |
| Fcrl1 |
A |
T |
3: 87,292,475 (GRCm39) |
I156F |
probably damaging |
Het |
| Gm7298 |
A |
G |
6: 121,765,565 (GRCm39) |
Y1465C |
probably damaging |
Het |
| Gpr17 |
A |
G |
18: 32,080,625 (GRCm39) |
L146P |
probably damaging |
Het |
| Gpr171 |
A |
G |
3: 59,005,313 (GRCm39) |
I154T |
possibly damaging |
Het |
| Hid1 |
T |
A |
11: 115,243,422 (GRCm39) |
Y542F |
probably damaging |
Het |
| Hspa8 |
T |
C |
9: 40,714,361 (GRCm39) |
V219A |
probably damaging |
Het |
| Klhl24 |
C |
T |
16: 19,938,933 (GRCm39) |
T496I |
possibly damaging |
Het |
| Krtcap2 |
T |
C |
3: 89,156,413 (GRCm39) |
S64P |
probably damaging |
Het |
| Msh3 |
C |
A |
13: 92,349,032 (GRCm39) |
D1066Y |
probably damaging |
Het |
| Naaladl2 |
C |
T |
3: 24,389,481 (GRCm39) |
G323R |
possibly damaging |
Het |
| Nbas |
A |
G |
12: 13,532,577 (GRCm39) |
T1762A |
probably benign |
Het |
| Nr4a1 |
C |
T |
15: 101,171,996 (GRCm39) |
R557C |
probably damaging |
Het |
| Ogfrl1 |
T |
A |
1: 23,409,194 (GRCm39) |
H344L |
probably benign |
Het |
| Or13a25 |
T |
A |
7: 140,247,995 (GRCm39) |
F265Y |
possibly damaging |
Het |
| Or5a1 |
T |
A |
19: 12,097,530 (GRCm39) |
H182L |
possibly damaging |
Het |
| Or5p55 |
A |
G |
7: 107,566,957 (GRCm39) |
M118V |
possibly damaging |
Het |
| Or9k7 |
A |
C |
10: 130,046,906 (GRCm39) |
V31G |
possibly damaging |
Het |
| Orm2 |
G |
A |
4: 63,280,841 (GRCm39) |
|
probably null |
Het |
| Patj |
T |
A |
4: 98,320,097 (GRCm39) |
S455T |
probably benign |
Het |
| Pdgfra |
G |
T |
5: 75,331,497 (GRCm39) |
V336L |
possibly damaging |
Het |
| Prkaa1 |
T |
C |
15: 5,206,437 (GRCm39) |
L431S |
probably damaging |
Het |
| Ptgfrn |
A |
G |
3: 100,952,894 (GRCm39) |
V780A |
possibly damaging |
Het |
| Rb1 |
A |
T |
14: 73,525,081 (GRCm39) |
V184E |
probably benign |
Het |
| Serpinb13 |
A |
T |
1: 106,928,504 (GRCm39) |
R375* |
probably null |
Het |
| Slc8a2 |
C |
A |
7: 15,867,970 (GRCm39) |
D67E |
probably benign |
Het |
| Sos2 |
A |
T |
12: 69,678,885 (GRCm39) |
N307K |
probably benign |
Het |
| Srgap2 |
G |
A |
1: 131,226,206 (GRCm39) |
R36W |
probably damaging |
Het |
| Tas2r119 |
G |
T |
15: 32,178,034 (GRCm39) |
W200L |
possibly damaging |
Het |
| Tep1 |
T |
G |
14: 51,062,005 (GRCm39) |
K2575T |
probably benign |
Het |
| Ttc36 |
T |
A |
9: 44,710,936 (GRCm39) |
R131S |
probably damaging |
Het |
| Ttyh3 |
A |
T |
5: 140,620,979 (GRCm39) |
L195Q |
probably damaging |
Het |
| Uba7 |
G |
A |
9: 107,857,382 (GRCm39) |
|
probably null |
Het |
| Utp20 |
A |
C |
10: 88,592,942 (GRCm39) |
V2249G |
probably damaging |
Het |
| Wwc2 |
A |
T |
8: 48,340,197 (GRCm39) |
|
probably null |
Het |
| Zdhhc21 |
A |
T |
4: 82,765,911 (GRCm39) |
V8D |
probably damaging |
Het |
| Zfp719 |
A |
G |
7: 43,239,290 (GRCm39) |
T293A |
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 |
|
|
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'- CACTGCATAATCTGTGTAACCCAG -3'
(R):5'- TCCAGTCGTTTCTGCTGTAG -3'
Sequencing Primer
(F):5'- GTAACTTATTATTCAGCTTGGCGAG -3'
(R):5'- GAACACTAGCTTTGTATCAGAGTCAG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation