Incidental Mutation 'IGL01524:Vmn1r216'
| ID |
89490 |
| 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 # |
IGL01524
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
23283319-23284215 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 23283519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 67
(N67K)
|
| 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 benign
Transcript: ENSMUST00000080253
AA Change: N67K
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000079139
Gene: ENSMUSG00000116057
AA Change: N67K
| 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 benign
Transcript: ENSMUST00000228389
AA Change: N67K
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228802
AA Change: N67K
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
A |
T |
8: 60,969,106 (GRCm39) |
D117V |
probably damaging |
Het |
| Abca14 |
T |
C |
7: 119,852,644 (GRCm39) |
Y870H |
possibly damaging |
Het |
| Ankrd36 |
T |
C |
11: 5,585,092 (GRCm39) |
I301T |
probably benign |
Het |
| Atp10b |
T |
A |
11: 43,150,672 (GRCm39) |
S1457T |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 36,996,531 (GRCm39) |
D1081G |
possibly damaging |
Het |
| Ccdc175 |
G |
A |
12: 72,177,916 (GRCm39) |
|
probably benign |
Het |
| Ccdc93 |
A |
G |
1: 121,389,628 (GRCm39) |
K224E |
probably benign |
Het |
| Cep131 |
C |
T |
11: 119,956,786 (GRCm39) |
A886T |
probably damaging |
Het |
| Clip1 |
A |
C |
5: 123,717,442 (GRCm39) |
H1282Q |
probably damaging |
Het |
| Ctcfl |
T |
G |
2: 172,959,177 (GRCm39) |
D183A |
probably benign |
Het |
| Cyp17a1 |
C |
T |
19: 46,659,495 (GRCm39) |
V112I |
probably benign |
Het |
| Fhod3 |
T |
C |
18: 25,263,659 (GRCm39) |
I1521T |
probably damaging |
Het |
| Gipc2 |
A |
G |
3: 151,843,214 (GRCm39) |
I141T |
probably damaging |
Het |
| Glo1 |
T |
C |
17: 30,815,393 (GRCm39) |
R141G |
possibly damaging |
Het |
| Ipmk |
C |
A |
10: 71,208,631 (GRCm39) |
A140E |
probably damaging |
Het |
| Kynu |
A |
G |
2: 43,561,394 (GRCm39) |
D310G |
possibly damaging |
Het |
| Myo1f |
T |
A |
17: 33,798,857 (GRCm39) |
I174N |
probably damaging |
Het |
| Nat10 |
T |
A |
2: 103,588,102 (GRCm39) |
N8Y |
probably damaging |
Het |
| Nhlrc2 |
A |
G |
19: 56,564,587 (GRCm39) |
I304V |
probably benign |
Het |
| Pdk4 |
T |
C |
6: 5,491,979 (GRCm39) |
H31R |
probably damaging |
Het |
| Sema6d |
T |
C |
2: 124,505,995 (GRCm39) |
V644A |
possibly damaging |
Het |
| Slc30a4 |
T |
A |
2: 122,544,308 (GRCm39) |
K11N |
possibly damaging |
Het |
| Slc6a3 |
T |
C |
13: 73,686,668 (GRCm39) |
S12P |
probably benign |
Het |
| Spats2 |
C |
T |
15: 99,110,127 (GRCm39) |
A508V |
probably benign |
Het |
| Tinag |
A |
G |
9: 76,952,820 (GRCm39) |
Y55H |
probably damaging |
Het |
| Topbp1 |
T |
C |
9: 103,188,844 (GRCm39) |
I172T |
possibly damaging |
Het |
| Trim17 |
A |
G |
11: 58,861,423 (GRCm39) |
T279A |
probably damaging |
Het |
| Washc4 |
T |
C |
10: 83,411,996 (GRCm39) |
L709P |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,230,132 (GRCm39) |
|
probably null |
Het |
| Zfhx4 |
C |
T |
3: 5,309,036 (GRCm39) |
P754L |
probably damaging |
Het |
| Zfp267 |
T |
C |
3: 36,218,729 (GRCm39) |
Y251H |
possibly damaging |
Het |
| Zfp623 |
C |
A |
15: 75,819,528 (GRCm39) |
S161R |
probably benign |
Het |
| Zmat3 |
G |
A |
3: 32,395,827 (GRCm39) |
R227C |
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 |
|
IGL01673:Vmn1r216
|
APN |
13 |
23,283,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-12-03 |
Incidental Mutation