Incidental Mutation 'IGL01393:Rev1'
| ID |
79288 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rev1
|
| Ensembl Gene |
ENSMUSG00000026082 |
| Gene Name |
REV1, DNA directed polymerase |
| Synonyms |
1110027I23Rik, Rev1l, REV1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.921)
|
| Stock # |
IGL01393
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
38091867-38168882 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38131144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 168
(V168A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027251
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027251]
[ENSMUST00000192594]
|
| 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: V168A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027251
Gene: ENSMUSG00000026082
AA Change: V168A
| 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: ENSMUST00000192594
|
| SMART Domains |
Protein: ENSMUSP00000141379
Gene: ENSMUSG00000026082
| Domain | Start | End | E-Value | Type |
|---|
|
BRCT
|
46 |
121 |
2.5e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194650
|
| Coding Region Coverage |
|
| 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 |
|---|
| 4930474N05Rik |
G |
A |
14: 35,818,379 (GRCm39) |
V126I |
possibly damaging |
Het |
| A630073D07Rik |
G |
T |
6: 132,603,577 (GRCm39) |
Q60K |
unknown |
Het |
| Alpk2 |
A |
G |
18: 65,440,779 (GRCm39) |
S205P |
possibly damaging |
Het |
| Ang4 |
T |
A |
14: 52,001,670 (GRCm39) |
I93L |
probably benign |
Het |
| Arpin |
A |
G |
7: 79,581,588 (GRCm39) |
V44A |
possibly damaging |
Het |
| Atxn3 |
A |
T |
12: 101,899,306 (GRCm39) |
C263* |
probably null |
Het |
| Cd209f |
T |
C |
8: 4,153,154 (GRCm39) |
N260S |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 104,861,969 (GRCm39) |
R50G |
probably benign |
Het |
| Cracd |
T |
C |
5: 77,006,818 (GRCm39) |
S1060P |
unknown |
Het |
| Csmd3 |
C |
T |
15: 48,320,995 (GRCm39) |
V272I |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,206,706 (GRCm39) |
Y1136F |
possibly damaging |
Het |
| Fam20c |
A |
G |
5: 138,793,026 (GRCm39) |
Y420C |
probably damaging |
Het |
| Fancd2 |
T |
A |
6: 113,554,321 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,160,135 (GRCm39) |
D3326G |
probably benign |
Het |
| Filip1l |
A |
G |
16: 57,392,586 (GRCm39) |
N820S |
probably damaging |
Het |
| Gm26566 |
G |
A |
4: 88,640,581 (GRCm39) |
|
probably benign |
Het |
| Gm4792 |
A |
G |
10: 94,134,304 (GRCm39) |
L22P |
unknown |
Het |
| Gpat2 |
A |
G |
2: 127,274,571 (GRCm39) |
E386G |
probably damaging |
Het |
| Grm3 |
T |
C |
5: 9,639,856 (GRCm39) |
D63G |
probably benign |
Het |
| Hdc |
A |
G |
2: 126,436,581 (GRCm39) |
V430A |
probably benign |
Het |
| Hnf4a |
T |
C |
2: 163,393,492 (GRCm39) |
|
probably benign |
Het |
| Il2ra |
A |
G |
2: 11,687,865 (GRCm39) |
D215G |
probably damaging |
Het |
| Kctd3 |
T |
C |
1: 188,732,487 (GRCm39) |
I74V |
probably benign |
Het |
| Kctd5 |
A |
T |
17: 24,278,292 (GRCm39) |
|
probably null |
Het |
| Lrsam1 |
A |
T |
2: 32,845,185 (GRCm39) |
|
probably benign |
Het |
| Mblac1 |
A |
G |
5: 138,193,036 (GRCm39) |
N126S |
possibly damaging |
Het |
| Mmrn1 |
T |
A |
6: 60,937,692 (GRCm39) |
|
probably benign |
Het |
| Mpp3 |
A |
T |
11: 101,916,304 (GRCm39) |
L16Q |
probably damaging |
Het |
| Mrgprb1 |
C |
A |
7: 48,097,754 (GRCm39) |
A53S |
possibly damaging |
Het |
| Nbea |
C |
A |
3: 55,912,729 (GRCm39) |
M1019I |
probably benign |
Het |
| Nlrp5 |
A |
G |
7: 23,103,599 (GRCm39) |
K22R |
probably null |
Het |
| Or1j4 |
G |
A |
2: 36,740,553 (GRCm39) |
R165Q |
probably benign |
Het |
| Or2ag18 |
C |
T |
7: 106,405,642 (GRCm39) |
G9E |
probably benign |
Het |
| Or4k48 |
A |
G |
2: 111,475,601 (GRCm39) |
V247A |
probably damaging |
Het |
| Pard6b |
T |
A |
2: 167,929,298 (GRCm39) |
S35T |
probably benign |
Het |
| Peli1 |
T |
C |
11: 21,097,400 (GRCm39) |
V215A |
probably benign |
Het |
| Pkp4 |
A |
T |
2: 59,178,269 (GRCm39) |
D1003V |
probably damaging |
Het |
| Pot1a |
G |
A |
6: 25,744,630 (GRCm39) |
R625* |
probably null |
Het |
| Ppp1r16a |
T |
C |
15: 76,578,744 (GRCm39) |
S483P |
probably benign |
Het |
| Prpf8 |
C |
A |
11: 75,385,121 (GRCm39) |
A794D |
possibly damaging |
Het |
| Prrg3 |
T |
C |
X: 71,011,123 (GRCm39) |
V210A |
probably benign |
Het |
| Sez6l |
G |
T |
5: 112,586,261 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,934,926 (GRCm39) |
T711A |
possibly damaging |
Het |
| Spice1 |
A |
G |
16: 44,186,993 (GRCm39) |
I163M |
probably benign |
Het |
| Tex13c1 |
C |
T |
X: 42,680,233 (GRCm39) |
A66V |
probably damaging |
Het |
| Tmem132d |
A |
T |
5: 127,861,702 (GRCm39) |
S806R |
probably benign |
Het |
| Tnc |
A |
G |
4: 63,932,291 (GRCm39) |
|
probably benign |
Het |
| Tpbg |
T |
A |
9: 85,726,145 (GRCm39) |
V38E |
unknown |
Het |
| Unc13c |
T |
A |
9: 73,447,552 (GRCm39) |
I1883F |
probably benign |
Het |
| Vmn2r61 |
A |
C |
7: 41,916,258 (GRCm39) |
Q290H |
probably benign |
Het |
| Vps39 |
A |
G |
2: 120,180,719 (GRCm39) |
|
probably benign |
Het |
| Zfp369 |
T |
C |
13: 65,442,288 (GRCm39) |
V294A |
possibly damaging |
Het |
| Zfp821 |
T |
A |
8: 110,436,110 (GRCm39) |
|
probably benign |
Het |
| Zfp941 |
C |
T |
7: 140,391,841 (GRCm39) |
G506E |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2013-11-05 |
Incidental Mutation