Incidental Mutation 'IGL02428:Vmn1r39'
| ID |
292985 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn1r39
|
| Ensembl Gene |
ENSMUSG00000093755 |
| Gene Name |
vomeronasal 1 receptor 39 |
| Synonyms |
Gm5993 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
IGL02428
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
66781399-66782316 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66781946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 124
(I124T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089918]
[ENSMUST00000226217]
[ENSMUST00000226783]
[ENSMUST00000227285]
[ENSMUST00000227555]
[ENSMUST00000228008]
[ENSMUST00000228651]
[ENSMUST00000228862]
[ENSMUST00000228919]
|
| AlphaFold |
G3UWE6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089918
AA Change: I124T
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000087364
Gene: ENSMUSG00000093755
AA Change: I124T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
28 |
293 |
3.5e-53 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226217
AA Change: I124T
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226783
AA Change: I124T
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227285
AA Change: I87T
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227555
AA Change: I124T
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228008
AA Change: I87T
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228651
AA Change: I87T
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228862
AA Change: I124T
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228919
AA Change: I87T
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700024G13Rik |
T |
C |
14: 32,110,205 (GRCm39) |
|
probably benign |
Het |
| AB124611 |
C |
T |
9: 21,440,221 (GRCm39) |
S69L |
possibly damaging |
Het |
| Abca6 |
G |
A |
11: 110,069,618 (GRCm39) |
A1566V |
possibly damaging |
Het |
| Ahnak |
A |
G |
19: 8,992,197 (GRCm39) |
I4494V |
possibly damaging |
Het |
| Ascc3 |
T |
A |
10: 50,721,791 (GRCm39) |
Y2081* |
probably null |
Het |
| Cdc42bpb |
T |
C |
12: 111,289,561 (GRCm39) |
T423A |
probably benign |
Het |
| Cdh6 |
T |
A |
15: 13,064,516 (GRCm39) |
I125F |
possibly damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Csmd2 |
T |
C |
4: 128,368,609 (GRCm39) |
L1845P |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,483,385 (GRCm39) |
V208A |
possibly damaging |
Het |
| Fanci |
A |
G |
7: 79,094,264 (GRCm39) |
|
probably benign |
Het |
| Fezf2 |
T |
C |
14: 12,344,494 (GRCm38) |
E231G |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,451,484 (GRCm39) |
D1566G |
probably damaging |
Het |
| Gm11565 |
A |
G |
11: 99,805,811 (GRCm39) |
T68A |
probably benign |
Het |
| Ifng |
G |
A |
10: 118,281,159 (GRCm39) |
R154H |
probably damaging |
Het |
| Il1r1 |
G |
A |
1: 40,352,392 (GRCm39) |
E521K |
possibly damaging |
Het |
| Irf3 |
G |
T |
7: 44,648,163 (GRCm39) |
L9F |
probably damaging |
Het |
| Jade1 |
T |
G |
3: 41,568,374 (GRCm39) |
I814S |
probably benign |
Het |
| Kcnh1 |
G |
A |
1: 192,019,851 (GRCm39) |
W365* |
probably null |
Het |
| Kif16b |
T |
C |
2: 142,514,280 (GRCm39) |
T1209A |
possibly damaging |
Het |
| Mcur1 |
A |
T |
13: 43,695,203 (GRCm39) |
S324T |
probably damaging |
Het |
| Mgat2 |
C |
A |
12: 69,231,558 (GRCm39) |
A44E |
probably benign |
Het |
| Nox1 |
A |
G |
X: 133,008,583 (GRCm39) |
|
probably benign |
Het |
| Oga |
A |
T |
19: 45,753,940 (GRCm39) |
W645R |
probably damaging |
Het |
| Or52ae7 |
A |
T |
7: 103,119,590 (GRCm39) |
I115F |
probably benign |
Het |
| Or5ak23 |
A |
G |
2: 85,244,537 (GRCm39) |
S229P |
probably benign |
Het |
| Pcnt |
A |
T |
10: 76,265,090 (GRCm39) |
I340N |
probably damaging |
Het |
| Pde11a |
T |
C |
2: 75,877,189 (GRCm39) |
E760G |
possibly damaging |
Het |
| Per3 |
C |
T |
4: 151,102,674 (GRCm39) |
|
probably null |
Het |
| Rabep1 |
G |
A |
11: 70,808,306 (GRCm39) |
A421T |
probably benign |
Het |
| Rint1 |
C |
T |
5: 23,999,450 (GRCm39) |
Q80* |
probably null |
Het |
| Rnaset2b |
G |
A |
17: 7,248,568 (GRCm39) |
|
probably null |
Het |
| Sccpdh |
T |
C |
1: 179,508,070 (GRCm39) |
Y237H |
probably benign |
Het |
| Scn10a |
T |
A |
9: 119,520,628 (GRCm39) |
T91S |
probably damaging |
Het |
| Spock1 |
A |
G |
13: 57,592,245 (GRCm39) |
|
probably benign |
Het |
| Stat1 |
A |
G |
1: 52,182,125 (GRCm39) |
|
probably benign |
Het |
| Svil |
A |
G |
18: 5,118,203 (GRCm39) |
E2212G |
probably damaging |
Het |
| Taok1 |
T |
A |
11: 77,440,103 (GRCm39) |
R635W |
probably benign |
Het |
| Vmn2r32 |
T |
C |
7: 7,477,283 (GRCm39) |
I369M |
probably benign |
Het |
|
| Other mutations in Vmn1r39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0189:Vmn1r39
|
UTSW |
6 |
66,782,181 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1132:Vmn1r39
|
UTSW |
6 |
66,781,428 (GRCm39) |
missense |
probably benign |
|
|
R1803:Vmn1r39
|
UTSW |
6 |
66,781,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1839:Vmn1r39
|
UTSW |
6 |
66,782,217 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2966:Vmn1r39
|
UTSW |
6 |
66,781,715 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3747:Vmn1r39
|
UTSW |
6 |
66,781,854 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3748:Vmn1r39
|
UTSW |
6 |
66,781,854 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3756:Vmn1r39
|
UTSW |
6 |
66,781,863 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3905:Vmn1r39
|
UTSW |
6 |
66,781,479 (GRCm39) |
nonsense |
probably null |
|
|
R3912:Vmn1r39
|
UTSW |
6 |
66,782,125 (GRCm39) |
missense |
probably benign |
|
|
R4226:Vmn1r39
|
UTSW |
6 |
66,781,703 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4426:Vmn1r39
|
UTSW |
6 |
66,782,345 (GRCm39) |
splice site |
probably null |
|
|
R5493:Vmn1r39
|
UTSW |
6 |
66,781,754 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6498:Vmn1r39
|
UTSW |
6 |
66,781,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6944:Vmn1r39
|
UTSW |
6 |
66,782,205 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
|
R7592:Vmn1r39
|
UTSW |
6 |
66,781,428 (GRCm39) |
missense |
probably benign |
|
|
R8312:Vmn1r39
|
UTSW |
6 |
66,781,841 (GRCm39) |
missense |
noncoding transcript |
|
|
R9232:Vmn1r39
|
UTSW |
6 |
66,781,580 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9517:Vmn1r39
|
UTSW |
6 |
66,782,258 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9571:Vmn1r39
|
UTSW |
6 |
66,781,572 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9580:Vmn1r39
|
UTSW |
6 |
66,781,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9629:Vmn1r39
|
UTSW |
6 |
66,781,578 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation