Incidental Mutation 'IGL02476:Vmn1r43'
| ID |
294933 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn1r43
|
| Ensembl Gene |
ENSMUSG00000068231 |
| Gene Name |
vomeronasal 1 receptor 43 |
| Synonyms |
V1ra5 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
IGL02476
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
89846443-89847511 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 89847043 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 148
(I148F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154510
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089418]
[ENSMUST00000226741]
[ENSMUST00000226983]
[ENSMUST00000227279]
[ENSMUST00000228709]
|
| AlphaFold |
Q8VIC9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089418
AA Change: I148F
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000086839
Gene: ENSMUSG00000068231
AA Change: I148F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
54 |
318 |
2.9e-126 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226240
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226741
AA Change: I148F
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226983
AA Change: I148F
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227279
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228709
AA Change: I148F
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
T |
A |
1: 74,320,683 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 75,003,386 (GRCm39) |
E4752G |
possibly damaging |
Het |
| Chd1 |
C |
T |
17: 15,954,535 (GRCm39) |
P468S |
probably damaging |
Het |
| Cnot3 |
A |
G |
7: 3,661,067 (GRCm39) |
D556G |
probably benign |
Het |
| Csnk1d |
A |
G |
11: 120,863,338 (GRCm39) |
Y201H |
probably damaging |
Het |
| Dhtkd1 |
A |
G |
2: 5,935,717 (GRCm39) |
S132P |
possibly damaging |
Het |
| Dhx58 |
G |
T |
11: 100,593,090 (GRCm39) |
Q206K |
probably benign |
Het |
| Dio1 |
C |
A |
4: 107,149,574 (GRCm39) |
V195F |
probably damaging |
Het |
| Dio3 |
T |
C |
12: 110,245,916 (GRCm39) |
V84A |
probably benign |
Het |
| Dnai4 |
T |
A |
4: 102,944,545 (GRCm39) |
I3L |
possibly damaging |
Het |
| Extl3 |
T |
C |
14: 65,314,693 (GRCm39) |
K163R |
probably benign |
Het |
| Fat2 |
A |
T |
11: 55,201,950 (GRCm39) |
S375T |
probably damaging |
Het |
| Fbrs |
A |
G |
7: 127,086,841 (GRCm39) |
D73G |
probably damaging |
Het |
| Fnip1 |
A |
G |
11: 54,390,393 (GRCm39) |
|
probably benign |
Het |
| Frmpd4 |
A |
G |
X: 166,280,851 (GRCm39) |
V343A |
probably damaging |
Het |
| Gcc1 |
T |
C |
6: 28,420,468 (GRCm39) |
D283G |
probably benign |
Het |
| Ghr |
T |
C |
15: 3,349,528 (GRCm39) |
D550G |
probably damaging |
Het |
| Glycam1 |
G |
A |
15: 103,471,307 (GRCm39) |
|
probably benign |
Het |
| Gpatch8 |
A |
G |
11: 102,369,417 (GRCm39) |
S1374P |
probably damaging |
Het |
| Grm1 |
A |
T |
10: 10,565,197 (GRCm39) |
M1037K |
probably benign |
Het |
| Gtpbp3 |
T |
C |
8: 71,945,242 (GRCm39) |
L438P |
probably damaging |
Het |
| Ifi205 |
G |
T |
1: 173,842,627 (GRCm39) |
N356K |
probably damaging |
Het |
| Ifi206 |
A |
G |
1: 173,309,132 (GRCm39) |
L288P |
probably benign |
Het |
| Ift57 |
T |
C |
16: 49,584,252 (GRCm39) |
V291A |
probably benign |
Het |
| Kif13a |
A |
C |
13: 46,938,772 (GRCm39) |
C166G |
probably damaging |
Het |
| Lypd6 |
A |
G |
2: 50,080,740 (GRCm39) |
T143A |
possibly damaging |
Het |
| Mtus2 |
G |
A |
5: 148,014,748 (GRCm39) |
A514T |
probably benign |
Het |
| Neu2 |
T |
C |
1: 87,524,674 (GRCm39) |
W220R |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,377,612 (GRCm39) |
S155G |
possibly damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,505,015 (GRCm39) |
E286G |
probably damaging |
Het |
| Onecut3 |
A |
G |
10: 80,349,724 (GRCm39) |
E406G |
probably benign |
Het |
| Oog2 |
T |
A |
4: 143,921,799 (GRCm39) |
D236E |
probably benign |
Het |
| Pck1 |
A |
G |
2: 173,000,075 (GRCm39) |
H502R |
probably benign |
Het |
| Pld1 |
A |
G |
3: 28,102,188 (GRCm39) |
Y313C |
probably damaging |
Het |
| Rhox3f |
A |
T |
X: 36,763,192 (GRCm39) |
|
probably benign |
Het |
| Rpl34 |
A |
G |
3: 130,520,613 (GRCm39) |
|
probably benign |
Het |
| Sema4c |
T |
C |
1: 36,595,031 (GRCm39) |
K31E |
probably damaging |
Het |
| Septin11 |
T |
C |
5: 93,296,443 (GRCm39) |
|
probably null |
Het |
| Slc4a9 |
T |
A |
18: 36,668,498 (GRCm39) |
|
probably null |
Het |
| Snrnp200 |
T |
A |
2: 127,059,408 (GRCm39) |
S434T |
probably benign |
Het |
| Snx13 |
A |
T |
12: 35,136,940 (GRCm39) |
I134F |
probably damaging |
Het |
| Syt2 |
T |
C |
1: 134,675,369 (GRCm39) |
S407P |
probably benign |
Het |
| Tbc1d19 |
T |
C |
5: 54,046,755 (GRCm39) |
|
probably null |
Het |
| Tbc1d32 |
G |
T |
10: 56,074,638 (GRCm39) |
Q192K |
possibly damaging |
Het |
| Ubr4 |
T |
A |
4: 139,148,560 (GRCm39) |
C1681* |
probably null |
Het |
| Vwa8 |
T |
C |
14: 79,162,781 (GRCm39) |
V187A |
possibly damaging |
Het |
|
| Other mutations in Vmn1r43 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01748:Vmn1r43
|
APN |
6 |
89,847,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02958:Vmn1r43
|
APN |
6 |
89,847,031 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0413:Vmn1r43
|
UTSW |
6 |
89,846,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1662:Vmn1r43
|
UTSW |
6 |
89,846,572 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1668:Vmn1r43
|
UTSW |
6 |
89,846,683 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4419:Vmn1r43
|
UTSW |
6 |
89,846,629 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4719:Vmn1r43
|
UTSW |
6 |
89,846,837 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4798:Vmn1r43
|
UTSW |
6 |
89,846,892 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5520:Vmn1r43
|
UTSW |
6 |
89,846,728 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5643:Vmn1r43
|
UTSW |
6 |
89,847,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5644:Vmn1r43
|
UTSW |
6 |
89,847,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5717:Vmn1r43
|
UTSW |
6 |
89,846,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6647:Vmn1r43
|
UTSW |
6 |
89,846,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6914:Vmn1r43
|
UTSW |
6 |
89,847,319 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6942:Vmn1r43
|
UTSW |
6 |
89,847,319 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7092:Vmn1r43
|
UTSW |
6 |
89,846,885 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7402:Vmn1r43
|
UTSW |
6 |
89,846,803 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7457:Vmn1r43
|
UTSW |
6 |
89,847,172 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7572:Vmn1r43
|
UTSW |
6 |
89,846,547 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7807:Vmn1r43
|
UTSW |
6 |
89,847,219 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8406:Vmn1r43
|
UTSW |
6 |
89,847,414 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8696:Vmn1r43
|
UTSW |
6 |
89,847,321 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8859:Vmn1r43
|
UTSW |
6 |
89,846,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8894:Vmn1r43
|
UTSW |
6 |
89,846,746 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9072:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9073:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9075:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9076:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9237:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9239:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9240:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9293:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9383:Vmn1r43
|
UTSW |
6 |
89,846,552 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9398:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9399:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9401:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9402:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9594:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9595:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9596:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9624:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9628:Vmn1r43
|
UTSW |
6 |
89,846,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9656:Vmn1r43
|
UTSW |
6 |
89,847,440 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
X0020:Vmn1r43
|
UTSW |
6 |
89,847,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Vmn1r43
|
UTSW |
6 |
89,847,467 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation