Incidental Mutation 'IGL01829:Vmn1r12'
| ID |
154718 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn1r12
|
| Ensembl Gene |
ENSMUSG00000057981 |
| Gene Name |
vomeronasal 1 receptor 12 |
| Synonyms |
Gm6674 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
IGL01829
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
57135905-57136828 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57136649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 205
(Y205H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073384]
[ENSMUST00000226866]
[ENSMUST00000227581]
|
| AlphaFold |
G5E8G1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073384
AA Change: Y249H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073098
Gene: ENSMUSG00000057981
AA Change: Y249H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
35 |
302 |
2.3e-55 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226866
AA Change: Y249H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227581
AA Change: Y205H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bod1l |
A |
G |
5: 41,977,811 (GRCm39) |
S1168P |
probably benign |
Het |
| Csn1s2a |
A |
T |
5: 87,934,569 (GRCm39) |
T173S |
unknown |
Het |
| Dchs1 |
T |
A |
7: 105,404,604 (GRCm39) |
D2646V |
probably damaging |
Het |
| Dennd4a |
C |
T |
9: 64,749,843 (GRCm39) |
R145* |
probably null |
Het |
| Dnah7a |
G |
T |
1: 53,657,227 (GRCm39) |
R850S |
possibly damaging |
Het |
| Dock2 |
T |
C |
11: 34,596,668 (GRCm39) |
D396G |
probably damaging |
Het |
| E2f7 |
A |
G |
10: 110,614,955 (GRCm39) |
Y553C |
probably benign |
Het |
| Elf2 |
A |
G |
3: 51,215,521 (GRCm39) |
M63T |
probably damaging |
Het |
| Hydin |
A |
C |
8: 111,316,154 (GRCm39) |
T4349P |
possibly damaging |
Het |
| Kcnk13 |
T |
A |
12: 100,027,257 (GRCm39) |
|
probably benign |
Het |
| Nr1h5 |
T |
A |
3: 102,856,395 (GRCm39) |
I295L |
probably benign |
Het |
| Or9s23 |
A |
T |
1: 92,501,051 (GRCm39) |
I53F |
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,449,383 (GRCm39) |
H986R |
probably damaging |
Het |
| Rufy1 |
T |
A |
11: 50,307,071 (GRCm39) |
R300* |
probably null |
Het |
| Sfxn4 |
C |
A |
19: 60,847,172 (GRCm39) |
S37I |
probably damaging |
Het |
| Slc12a9 |
A |
T |
5: 137,325,627 (GRCm39) |
|
probably benign |
Het |
| Slc37a1 |
T |
C |
17: 31,541,180 (GRCm39) |
I224T |
possibly damaging |
Het |
| Slc6a6 |
T |
C |
6: 91,712,170 (GRCm39) |
F233S |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,536,927 (GRCm39) |
K4233E |
possibly damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,046,377 (GRCm39) |
M1141K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,612,011 (GRCm39) |
D17297G |
probably damaging |
Het |
| Vmn1r77 |
A |
G |
7: 11,775,358 (GRCm39) |
K45E |
probably damaging |
Het |
| Vmn2r129 |
T |
C |
4: 156,685,614 (GRCm39) |
|
noncoding transcript |
Het |
| Vps13a |
T |
C |
19: 16,596,807 (GRCm39) |
T3104A |
probably benign |
Het |
|
| Other mutations in Vmn1r12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1519:Vmn1r12
|
UTSW |
6 |
57,136,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1978:Vmn1r12
|
UTSW |
6 |
57,136,494 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1981:Vmn1r12
|
UTSW |
6 |
57,136,646 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4903:Vmn1r12
|
UTSW |
6 |
57,136,502 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5445:Vmn1r12
|
UTSW |
6 |
57,136,466 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5725:Vmn1r12
|
UTSW |
6 |
57,136,694 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5923:Vmn1r12
|
UTSW |
6 |
57,136,020 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5991:Vmn1r12
|
UTSW |
6 |
57,136,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7237:Vmn1r12
|
UTSW |
6 |
57,136,550 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7369:Vmn1r12
|
UTSW |
6 |
57,136,683 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7605:Vmn1r12
|
UTSW |
6 |
57,136,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7658:Vmn1r12
|
UTSW |
6 |
57,135,883 (GRCm39) |
intron |
probably benign |
|
|
R7893:Vmn1r12
|
UTSW |
6 |
57,136,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8468:Vmn1r12
|
UTSW |
6 |
57,136,370 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9746:Vmn1r12
|
UTSW |
6 |
57,136,526 (GRCm39) |
missense |
probably benign |
0.25 |
|
Z1088:Vmn1r12
|
UTSW |
6 |
57,135,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation