Incidental Mutation 'IGL01147:Vmn1r6'
| ID |
51394 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn1r6
|
| Ensembl Gene |
ENSMUSG00000115701 |
| Gene Name |
vomeronasal 1 receptor 6 |
| Synonyms |
V1rc20 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
IGL01147
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
56979340-56980251 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 56979626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 74
(L74H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079669]
[ENSMUST00000226689]
[ENSMUST00000227131]
[ENSMUST00000227188]
[ENSMUST00000227631]
[ENSMUST00000227847]
[ENSMUST00000228285]
|
| AlphaFold |
Q8R2D4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079669
AA Change: L96H
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000078611
Gene: ENSMUSG00000115701
AA Change: L96H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
28 |
293 |
4.9e-54 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226689
AA Change: L96H
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227131
AA Change: L96H
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227188
AA Change: L74H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227631
AA Change: L74H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227847
AA Change: L96H
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228285
AA Change: L96H
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,234,611 (GRCm39) |
|
probably benign |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Cdh1 |
C |
A |
8: 107,387,516 (GRCm39) |
T472K |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cfap57 |
A |
T |
4: 118,446,198 (GRCm39) |
V688E |
probably damaging |
Het |
| Cfp |
G |
A |
X: 20,794,981 (GRCm39) |
R155C |
probably damaging |
Het |
| Chst7 |
T |
C |
X: 19,926,991 (GRCm39) |
I346T |
probably damaging |
Het |
| Crybg2 |
G |
A |
4: 133,816,575 (GRCm39) |
|
probably null |
Het |
| Ctsc |
T |
A |
7: 87,951,479 (GRCm39) |
V242D |
possibly damaging |
Het |
| Cyp27b1 |
C |
T |
10: 126,886,255 (GRCm39) |
T312I |
possibly damaging |
Het |
| D6Wsu163e |
A |
G |
6: 126,921,815 (GRCm39) |
D80G |
possibly damaging |
Het |
| Enpp3 |
G |
T |
10: 24,650,805 (GRCm39) |
T777K |
probably damaging |
Het |
| H2-M1 |
T |
A |
17: 36,982,199 (GRCm39) |
H134L |
possibly damaging |
Het |
| Heatr1 |
T |
C |
13: 12,452,793 (GRCm39) |
S2105P |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,806,697 (GRCm39) |
S2388P |
probably benign |
Het |
| Igkv6-23 |
A |
G |
6: 70,237,922 (GRCm39) |
|
probably benign |
Het |
| Il1rapl2 |
C |
T |
X: 137,121,325 (GRCm39) |
|
probably benign |
Het |
| Itpka |
T |
C |
2: 119,573,254 (GRCm39) |
L132P |
probably benign |
Het |
| Jak3 |
T |
C |
8: 72,136,047 (GRCm39) |
S616P |
probably benign |
Het |
| Kcnj11 |
T |
C |
7: 45,748,193 (GRCm39) |
K377E |
probably benign |
Het |
| Map4k3 |
A |
T |
17: 80,944,147 (GRCm39) |
|
probably null |
Het |
| Parp1 |
T |
C |
1: 180,417,145 (GRCm39) |
I643T |
probably damaging |
Het |
| Phf3 |
T |
C |
1: 30,843,250 (GRCm39) |
D1903G |
probably damaging |
Het |
| Picalm |
G |
T |
7: 89,826,800 (GRCm39) |
S416I |
probably benign |
Het |
| Pkn2 |
T |
C |
3: 142,534,770 (GRCm39) |
N285S |
probably benign |
Het |
| Sh3gl2 |
A |
C |
4: 85,265,433 (GRCm39) |
|
probably benign |
Het |
| Smpd1 |
C |
A |
7: 105,204,943 (GRCm39) |
T274K |
probably damaging |
Het |
| Snap91 |
G |
A |
9: 86,680,611 (GRCm39) |
T424M |
probably benign |
Het |
| Sox13 |
T |
A |
1: 133,320,873 (GRCm39) |
T46S |
probably benign |
Het |
| Syne1 |
G |
A |
10: 5,002,691 (GRCm39) |
Q8075* |
probably null |
Het |
| Trio |
T |
C |
15: 27,881,406 (GRCm39) |
E555G |
probably damaging |
Het |
| Upf3b |
T |
C |
X: 36,360,586 (GRCm39) |
E298G |
probably damaging |
Het |
| Vmn1r158 |
A |
G |
7: 22,490,204 (GRCm39) |
S2P |
probably benign |
Het |
| Vwa2 |
T |
C |
19: 56,890,066 (GRCm39) |
S224P |
probably damaging |
Het |
| Wbp1l |
T |
A |
19: 46,632,808 (GRCm39) |
V36E |
probably damaging |
Het |
| Zfp367 |
A |
G |
13: 64,283,253 (GRCm39) |
S300P |
probably damaging |
Het |
|
| Other mutations in Vmn1r6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00905:Vmn1r6
|
APN |
6 |
56,979,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01011:Vmn1r6
|
APN |
6 |
56,979,529 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01475:Vmn1r6
|
APN |
6 |
56,979,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01638:Vmn1r6
|
APN |
6 |
56,980,177 (GRCm39) |
nonsense |
probably null |
|
|
IGL01860:Vmn1r6
|
APN |
6 |
56,979,674 (GRCm39) |
nonsense |
probably null |
|
|
IGL01876:Vmn1r6
|
APN |
6 |
56,979,446 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01988:Vmn1r6
|
APN |
6 |
56,979,650 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0531:Vmn1r6
|
UTSW |
6 |
56,979,583 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1495:Vmn1r6
|
UTSW |
6 |
56,980,058 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1733:Vmn1r6
|
UTSW |
6 |
56,979,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2037:Vmn1r6
|
UTSW |
6 |
56,980,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3625:Vmn1r6
|
UTSW |
6 |
56,979,920 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4353:Vmn1r6
|
UTSW |
6 |
56,979,677 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4484:Vmn1r6
|
UTSW |
6 |
56,980,174 (GRCm39) |
missense |
probably benign |
|
|
R4854:Vmn1r6
|
UTSW |
6 |
56,979,683 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5237:Vmn1r6
|
UTSW |
6 |
56,980,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5341:Vmn1r6
|
UTSW |
6 |
56,979,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5611:Vmn1r6
|
UTSW |
6 |
56,979,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6795:Vmn1r6
|
UTSW |
6 |
56,979,422 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8423:Vmn1r6
|
UTSW |
6 |
56,979,495 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9249:Vmn1r6
|
UTSW |
6 |
56,979,760 (GRCm39) |
missense |
probably benign |
|
|
R9582:Vmn1r6
|
UTSW |
6 |
56,979,925 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation