Incidental Mutation 'R0968:Gm12695'
| ID |
83942 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm12695
|
| Ensembl Gene |
ENSMUSG00000078639 |
| Gene Name |
predicted gene 12695 |
| Synonyms |
|
| MMRRC Submission |
039097-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R0968 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
96611884-96673423 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 96650303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 181
(V181G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102686
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107071]
|
| AlphaFold |
A2AGB2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107071
AA Change: V181G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102686
Gene: ENSMUSG00000078639
AA Change: V181G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
226 |
237 |
N/A |
INTRINSIC |
|
low complexity region
|
360 |
371 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3082 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 98.0%
- 20x: 96.7%
|
| Validation Efficiency |
94% (34/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
A |
3: 137,772,967 (GRCm39) |
V719M |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,248,016 (GRCm39) |
S2588G |
probably benign |
Het |
| Acaca |
C |
T |
11: 84,129,859 (GRCm39) |
Q405* |
probably null |
Het |
| Brms1l |
G |
A |
12: 55,912,798 (GRCm39) |
D264N |
possibly damaging |
Het |
| Cabcoco1 |
T |
C |
10: 68,272,202 (GRCm39) |
M254V |
probably benign |
Het |
| Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
| Coro7 |
G |
C |
16: 4,487,919 (GRCm39) |
|
probably benign |
Het |
| Cylc2 |
A |
G |
4: 51,216,706 (GRCm39) |
M1V |
probably null |
Het |
| Cyp3a11 |
G |
A |
5: 145,799,324 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
C |
T |
5: 124,906,641 (GRCm39) |
T4224M |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,339,345 (GRCm39) |
E3054G |
possibly damaging |
Het |
| Dnm3 |
A |
G |
1: 161,847,388 (GRCm39) |
|
probably benign |
Het |
| Efcab5 |
G |
A |
11: 77,031,749 (GRCm39) |
R42W |
probably damaging |
Het |
| Fgf12 |
T |
C |
16: 27,981,185 (GRCm39) |
N177S |
probably null |
Het |
| Flt3 |
C |
T |
5: 147,278,037 (GRCm39) |
V846I |
possibly damaging |
Het |
| Gm11569 |
A |
T |
11: 99,689,250 (GRCm39) |
|
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Lars1 |
C |
A |
18: 42,351,648 (GRCm39) |
R852L |
probably benign |
Het |
| Lca5 |
T |
C |
9: 83,305,222 (GRCm39) |
T195A |
probably benign |
Het |
| Lrrc40 |
G |
A |
3: 157,742,426 (GRCm39) |
D14N |
probably damaging |
Het |
| Map4k2 |
T |
C |
19: 6,395,487 (GRCm39) |
S327P |
probably damaging |
Het |
| Mpp4 |
A |
G |
1: 59,169,249 (GRCm39) |
F397L |
probably damaging |
Het |
| Mtus2 |
T |
C |
5: 148,014,994 (GRCm39) |
S596P |
probably benign |
Het |
| Myo3a |
T |
A |
2: 22,448,301 (GRCm39) |
N25K |
probably damaging |
Het |
| Nadsyn1 |
T |
C |
7: 143,359,770 (GRCm39) |
T401A |
probably benign |
Het |
| Pde6a |
A |
T |
18: 61,386,809 (GRCm39) |
E395D |
probably damaging |
Het |
| Plekhm2 |
A |
G |
4: 141,357,243 (GRCm39) |
V743A |
probably benign |
Het |
| Pzp |
A |
T |
6: 128,502,108 (GRCm39) |
D80E |
probably benign |
Het |
| Rp1 |
A |
T |
1: 4,415,575 (GRCm39) |
C1846S |
probably benign |
Het |
| Shbg |
A |
G |
11: 69,508,014 (GRCm39) |
L117P |
probably damaging |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Slc5a2 |
G |
C |
7: 127,869,803 (GRCm39) |
R412P |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Supt20 |
A |
G |
3: 54,615,821 (GRCm39) |
|
probably benign |
Het |
| Vcpip1 |
A |
T |
1: 9,816,604 (GRCm39) |
I593N |
probably damaging |
Het |
|
| Other mutations in Gm12695 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00672:Gm12695
|
APN |
4 |
96,637,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01016:Gm12695
|
APN |
4 |
96,646,184 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02605:Gm12695
|
APN |
4 |
96,650,988 (GRCm39) |
missense |
probably null |
0.92 |
|
IGL02734:Gm12695
|
APN |
4 |
96,612,267 (GRCm39) |
nonsense |
probably null |
|
|
IGL02869:Gm12695
|
APN |
4 |
96,650,370 (GRCm39) |
splice site |
probably benign |
|
|
IGL02895:Gm12695
|
APN |
4 |
96,612,186 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0020:Gm12695
|
UTSW |
4 |
96,657,972 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0465:Gm12695
|
UTSW |
4 |
96,673,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0941:Gm12695
|
UTSW |
4 |
96,616,454 (GRCm39) |
nonsense |
probably null |
|
|
R1965:Gm12695
|
UTSW |
4 |
96,651,082 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1983:Gm12695
|
UTSW |
4 |
96,627,214 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2051:Gm12695
|
UTSW |
4 |
96,658,008 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2063:Gm12695
|
UTSW |
4 |
96,657,963 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2064:Gm12695
|
UTSW |
4 |
96,657,963 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2065:Gm12695
|
UTSW |
4 |
96,657,963 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2066:Gm12695
|
UTSW |
4 |
96,657,963 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2067:Gm12695
|
UTSW |
4 |
96,657,963 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2073:Gm12695
|
UTSW |
4 |
96,612,182 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2075:Gm12695
|
UTSW |
4 |
96,612,182 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2233:Gm12695
|
UTSW |
4 |
96,612,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2234:Gm12695
|
UTSW |
4 |
96,612,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2327:Gm12695
|
UTSW |
4 |
96,657,893 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2507:Gm12695
|
UTSW |
4 |
96,642,426 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3836:Gm12695
|
UTSW |
4 |
96,650,334 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4685:Gm12695
|
UTSW |
4 |
96,650,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5491:Gm12695
|
UTSW |
4 |
96,657,905 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5792:Gm12695
|
UTSW |
4 |
96,616,520 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6767:Gm12695
|
UTSW |
4 |
96,650,933 (GRCm39) |
splice site |
probably null |
|
|
R6786:Gm12695
|
UTSW |
4 |
96,651,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6874:Gm12695
|
UTSW |
4 |
96,673,306 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6923:Gm12695
|
UTSW |
4 |
96,658,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6978:Gm12695
|
UTSW |
4 |
96,657,959 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7810:Gm12695
|
UTSW |
4 |
96,619,608 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8263:Gm12695
|
UTSW |
4 |
96,651,046 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8272:Gm12695
|
UTSW |
4 |
96,612,183 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8285:Gm12695
|
UTSW |
4 |
96,657,990 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8924:Gm12695
|
UTSW |
4 |
96,651,046 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9115:Gm12695
|
UTSW |
4 |
96,657,846 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9444:Gm12695
|
UTSW |
4 |
96,612,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9462:Gm12695
|
UTSW |
4 |
96,651,075 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9725:Gm12695
|
UTSW |
4 |
96,616,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Gm12695
|
UTSW |
4 |
96,637,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGCAGAGGGACTTTATGCCTTAG -3'
(R):5'- TGTGCATGGTAAGCACTAGTCACTG -3'
Sequencing Primer
(F):5'- CTTTATGCCTTAGGAAGAGGCAG -3'
(R):5'- GAATGAATACTTTTCCTCAGGTGGC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation