Incidental Mutation 'IGL01673:Vmn1r216'
| ID |
103551 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn1r216
|
| Ensembl Gene |
ENSMUSG00000116057 |
| Gene Name |
vomeronasal 1 receptor 216 |
| Synonyms |
V1ri10 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.299)
|
| Stock # |
IGL01673
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
23283319-23284215 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23283641 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 108
(Q108R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080253]
[ENSMUST00000228389]
[ENSMUST00000228802]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080253
AA Change: Q108R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079139
Gene: ENSMUSG00000116057
AA Change: Q108R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
5 |
295 |
2.7e-7 |
PFAM |
|
Pfam:V1R
|
35 |
297 |
4.3e-35 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118007
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119967
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227317
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228389
AA Change: Q108R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228802
AA Change: Q108R
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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cpz |
A |
T |
5: 35,669,891 (GRCm39) |
V262E |
probably benign |
Het |
| Cyp4f14 |
A |
G |
17: 33,130,125 (GRCm39) |
|
probably null |
Het |
| Ddx46 |
G |
T |
13: 55,800,861 (GRCm39) |
V339F |
probably damaging |
Het |
| Gpn1 |
T |
G |
5: 31,652,179 (GRCm39) |
C21W |
probably damaging |
Het |
| Gpr63 |
A |
T |
4: 25,008,014 (GRCm39) |
Q246L |
probably benign |
Het |
| Hsp90b1 |
T |
A |
10: 86,529,296 (GRCm39) |
M658L |
probably damaging |
Het |
| Immp2l |
T |
C |
12: 41,118,320 (GRCm39) |
S4P |
probably benign |
Het |
| Krtap9-5 |
A |
T |
11: 99,840,377 (GRCm39) |
*359C |
probably null |
Het |
| Lgals7 |
A |
G |
7: 28,565,621 (GRCm39) |
|
probably benign |
Het |
| Mak |
G |
T |
13: 41,201,699 (GRCm39) |
|
probably null |
Het |
| Mrps18c |
A |
G |
5: 100,946,672 (GRCm39) |
R13G |
possibly damaging |
Het |
| Myo7a |
A |
G |
7: 97,703,915 (GRCm39) |
V1946A |
probably benign |
Het |
| Nfyc |
T |
C |
4: 120,636,307 (GRCm39) |
|
probably benign |
Het |
| Nkx2-4 |
C |
T |
2: 146,925,834 (GRCm39) |
V343M |
possibly damaging |
Het |
| Or5be3 |
T |
C |
2: 86,863,731 (GRCm39) |
Y278C |
probably damaging |
Het |
| Or8d2 |
T |
C |
9: 38,760,316 (GRCm39) |
V302A |
probably benign |
Het |
| Rapgef4 |
G |
T |
2: 72,071,781 (GRCm39) |
S743I |
probably damaging |
Het |
| Tcf7 |
A |
G |
11: 52,147,823 (GRCm39) |
C210R |
probably damaging |
Het |
| Ubqln3 |
T |
A |
7: 103,791,605 (GRCm39) |
I162F |
probably benign |
Het |
| Vmn1r74 |
A |
T |
7: 11,581,317 (GRCm39) |
I206F |
possibly damaging |
Het |
| Wdr64 |
T |
C |
1: 175,627,922 (GRCm39) |
I872T |
possibly damaging |
Het |
|
| Other mutations in Vmn1r216 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00432:Vmn1r216
|
APN |
13 |
23,283,574 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01524:Vmn1r216
|
APN |
13 |
23,283,519 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02474:Vmn1r216
|
APN |
13 |
23,283,647 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02867:Vmn1r216
|
APN |
13 |
23,283,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02889:Vmn1r216
|
APN |
13 |
23,283,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03289:Vmn1r216
|
APN |
13 |
23,284,182 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0113:Vmn1r216
|
UTSW |
13 |
23,283,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2008:Vmn1r216
|
UTSW |
13 |
23,283,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2191:Vmn1r216
|
UTSW |
13 |
23,283,403 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2960:Vmn1r216
|
UTSW |
13 |
23,284,103 (GRCm39) |
missense |
probably benign |
0.23 |
|
R3522:Vmn1r216
|
UTSW |
13 |
23,283,544 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R3697:Vmn1r216
|
UTSW |
13 |
23,283,849 (GRCm39) |
nonsense |
probably null |
|
|
R4024:Vmn1r216
|
UTSW |
13 |
23,284,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4797:Vmn1r216
|
UTSW |
13 |
23,283,506 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5088:Vmn1r216
|
UTSW |
13 |
23,283,473 (GRCm39) |
nonsense |
probably null |
|
|
R5412:Vmn1r216
|
UTSW |
13 |
23,284,081 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5905:Vmn1r216
|
UTSW |
13 |
23,283,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6006:Vmn1r216
|
UTSW |
13 |
23,283,928 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6020:Vmn1r216
|
UTSW |
13 |
23,284,105 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6213:Vmn1r216
|
UTSW |
13 |
23,283,339 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6897:Vmn1r216
|
UTSW |
13 |
23,283,445 (GRCm39) |
nonsense |
probably null |
|
|
R7483:Vmn1r216
|
UTSW |
13 |
23,283,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7487:Vmn1r216
|
UTSW |
13 |
23,284,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8213:Vmn1r216
|
UTSW |
13 |
23,283,695 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8490:Vmn1r216
|
UTSW |
13 |
23,283,979 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8752:Vmn1r216
|
UTSW |
13 |
23,283,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9017:Vmn1r216
|
UTSW |
13 |
23,284,081 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9547:Vmn1r216
|
UTSW |
13 |
23,283,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9639:Vmn1r216
|
UTSW |
13 |
23,283,518 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Posted On |
2014-01-21 |
Incidental Mutation