Incidental Mutation 'R1627:Rev1'
| ID |
172534 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rev1
|
| Ensembl Gene |
ENSMUSG00000026082 |
| Gene Name |
REV1, DNA directed polymerase |
| Synonyms |
1110027I23Rik, Rev1l, REV1 |
| MMRRC Submission |
039664-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.918)
|
| Stock # |
R1627 (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 C
at 38094571 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 949
(D949G)
|
| 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: D949G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000027251
Gene: ENSMUSG00000026082
AA Change: D949G
| 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
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.0%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
A |
G |
5: 105,083,880 (GRCm39) |
M630T |
probably benign |
Het |
| Anpep |
T |
C |
7: 79,491,759 (GRCm39) |
I81V |
probably benign |
Het |
| Bub1 |
A |
G |
2: 127,650,933 (GRCm39) |
S627P |
probably benign |
Het |
| C1s1 |
T |
A |
6: 124,514,439 (GRCm39) |
N139I |
probably damaging |
Het |
| Car6 |
A |
T |
4: 150,277,035 (GRCm39) |
V152D |
probably damaging |
Het |
| Cdh19 |
C |
A |
1: 110,847,375 (GRCm39) |
M411I |
probably benign |
Het |
| Cep95 |
A |
G |
11: 106,700,531 (GRCm39) |
E322G |
probably damaging |
Het |
| Chek1 |
C |
A |
9: 36,625,737 (GRCm39) |
V303L |
probably benign |
Het |
| Dctn1 |
T |
A |
6: 83,172,064 (GRCm39) |
I818N |
probably damaging |
Het |
| Dscaml1 |
T |
C |
9: 45,664,445 (GRCm39) |
S2107P |
probably damaging |
Het |
| Dusp14 |
A |
G |
11: 83,939,597 (GRCm39) |
I148T |
probably damaging |
Het |
| Eps15 |
A |
G |
4: 109,227,754 (GRCm39) |
D645G |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,806,390 (GRCm39) |
N1153S |
possibly damaging |
Het |
| Fer1l6 |
A |
G |
15: 58,513,728 (GRCm39) |
D1541G |
probably benign |
Het |
| Gm14496 |
A |
G |
2: 181,640,571 (GRCm39) |
S513G |
probably damaging |
Het |
| H2-D1 |
G |
T |
17: 35,482,471 (GRCm39) |
A64S |
possibly damaging |
Het |
| Hsd17b2 |
T |
A |
8: 118,428,909 (GRCm39) |
F59I |
possibly damaging |
Het |
| Itgb7 |
T |
G |
15: 102,131,911 (GRCm39) |
Q224P |
probably damaging |
Het |
| Jak1 |
A |
G |
4: 101,048,821 (GRCm39) |
|
probably null |
Het |
| Kdm1b |
G |
A |
13: 47,217,707 (GRCm39) |
|
probably null |
Het |
| Lrp8 |
A |
G |
4: 107,711,613 (GRCm39) |
I466V |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,795,043 (GRCm39) |
D2909G |
probably damaging |
Het |
| Nol8 |
T |
C |
13: 49,814,980 (GRCm39) |
S345P |
probably benign |
Het |
| Nup210l |
T |
C |
3: 90,051,476 (GRCm39) |
M540T |
probably benign |
Het |
| Obscn |
C |
T |
11: 59,003,464 (GRCm39) |
R1370H |
probably benign |
Het |
| Or2ad1 |
A |
G |
13: 21,327,125 (GRCm39) |
F34S |
probably damaging |
Het |
| Pbx3 |
A |
G |
2: 34,065,965 (GRCm39) |
V375A |
probably benign |
Het |
| Ppp1r9a |
T |
C |
6: 4,906,168 (GRCm39) |
V241A |
possibly damaging |
Het |
| Psmd6 |
C |
T |
14: 14,112,539 (GRCm38) |
V354M |
probably damaging |
Het |
| Rab2a |
T |
C |
4: 8,578,481 (GRCm39) |
F94L |
probably damaging |
Het |
| Ric8a |
A |
G |
7: 140,438,091 (GRCm39) |
D110G |
probably damaging |
Het |
| Rlf |
A |
T |
4: 121,007,197 (GRCm39) |
D594E |
probably benign |
Het |
| Septin1 |
C |
A |
7: 126,817,230 (GRCm39) |
|
probably null |
Het |
| Slco5a1 |
G |
C |
1: 13,060,607 (GRCm39) |
P38R |
probably damaging |
Het |
| Snx33 |
C |
A |
9: 56,833,241 (GRCm39) |
R276L |
probably damaging |
Het |
| Taf11 |
A |
T |
17: 28,124,253 (GRCm39) |
D101E |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,764,564 (GRCm39) |
S3168P |
probably damaging |
Het |
| Uggt2 |
T |
C |
14: 119,295,075 (GRCm39) |
E41G |
possibly damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,030,249 (GRCm39) |
R692G |
probably damaging |
Het |
| Zfp763 |
A |
T |
17: 33,240,758 (GRCm39) |
W24R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGAAGTGCAAGCTCCTCAG -3'
(R):5'- TCGGTGCCCATCAAGATAGGGTAG -3'
Sequencing Primer
(F):5'- TGACTGAAGGTCCCTGACATC -3'
(R):5'- AAGATAGGGTAGGGACTAGCTTTTTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation