Incidental Mutation 'IGL01129:Vmn1r18'
| ID |
51357 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn1r18
|
| Ensembl Gene |
ENSMUSG00000091382 |
| Gene Name |
vomeronasal 1 receptor 18 |
| Synonyms |
V1rc26 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
IGL01129
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
57366653-57367552 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57367482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 24
(F24Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164732]
[ENSMUST00000228574]
|
| AlphaFold |
Q8R2C8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164732
AA Change: F24Y
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000129827
Gene: ENSMUSG00000091382
AA Change: F24Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
29 |
293 |
1.1e-59 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228574
AA Change: F24Y
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933436I01Rik |
A |
T |
X: 66,964,210 (GRCm39) |
F216L |
possibly damaging |
Het |
| Bace2 |
T |
G |
16: 97,209,630 (GRCm39) |
N181K |
probably damaging |
Het |
| Cc2d1a |
G |
T |
8: 84,870,033 (GRCm39) |
H161N |
probably benign |
Het |
| Ckap2 |
C |
T |
8: 22,659,774 (GRCm39) |
G569D |
probably damaging |
Het |
| Col11a1 |
T |
C |
3: 113,979,522 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,535,846 (GRCm39) |
D939N |
unknown |
Het |
| Creb3l2 |
A |
T |
6: 37,330,569 (GRCm39) |
|
probably benign |
Het |
| Cuedc1 |
T |
A |
11: 88,074,080 (GRCm39) |
S205T |
possibly damaging |
Het |
| Cux1 |
G |
A |
5: 136,333,572 (GRCm39) |
|
probably benign |
Het |
| Cyp3a59 |
A |
G |
5: 146,035,089 (GRCm39) |
M256V |
probably benign |
Het |
| Gzf1 |
C |
A |
2: 148,532,916 (GRCm39) |
P690Q |
probably damaging |
Het |
| Lrch3 |
T |
A |
16: 32,815,335 (GRCm39) |
D575E |
probably benign |
Het |
| Lypd3 |
A |
G |
7: 24,340,018 (GRCm39) |
M362V |
probably benign |
Het |
| Mppe1 |
C |
A |
18: 67,370,515 (GRCm39) |
G61* |
probably null |
Het |
| Nr2c2 |
T |
A |
6: 92,135,397 (GRCm39) |
D328E |
probably benign |
Het |
| Or6b9 |
T |
C |
7: 106,555,634 (GRCm39) |
N170D |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,825,505 (GRCm39) |
V114E |
probably damaging |
Het |
| Rab14 |
T |
C |
2: 35,073,398 (GRCm39) |
|
probably benign |
Het |
| Slc30a9 |
G |
T |
5: 67,499,486 (GRCm39) |
G315C |
probably damaging |
Het |
| Spag16 |
A |
T |
1: 69,935,681 (GRCm39) |
S303C |
probably benign |
Het |
| Spata16 |
C |
T |
3: 26,967,333 (GRCm39) |
|
probably benign |
Het |
| Srcap |
T |
C |
7: 127,120,823 (GRCm39) |
V161A |
probably damaging |
Het |
| Srd5a3 |
A |
G |
5: 76,297,593 (GRCm39) |
|
probably benign |
Het |
| Vmn1r78 |
A |
T |
7: 11,887,165 (GRCm39) |
T259S |
probably benign |
Het |
| Zc3h13 |
G |
A |
14: 75,573,439 (GRCm39) |
D1527N |
probably damaging |
Het |
|
| Other mutations in Vmn1r18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01301:Vmn1r18
|
APN |
6 |
57,366,652 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01996:Vmn1r18
|
APN |
6 |
57,367,001 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02017:Vmn1r18
|
APN |
6 |
57,366,741 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1908:Vmn1r18
|
UTSW |
6 |
57,367,026 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4200:Vmn1r18
|
UTSW |
6 |
57,367,101 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4288:Vmn1r18
|
UTSW |
6 |
57,367,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4667:Vmn1r18
|
UTSW |
6 |
57,367,069 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6029:Vmn1r18
|
UTSW |
6 |
57,367,451 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6767:Vmn1r18
|
UTSW |
6 |
57,367,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7174:Vmn1r18
|
UTSW |
6 |
57,366,609 (GRCm39) |
splice site |
probably null |
|
|
R7229:Vmn1r18
|
UTSW |
6 |
57,367,083 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7332:Vmn1r18
|
UTSW |
6 |
57,367,503 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7425:Vmn1r18
|
UTSW |
6 |
57,367,551 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R9428:Vmn1r18
|
UTSW |
6 |
57,367,535 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9561:Vmn1r18
|
UTSW |
6 |
57,367,202 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9685:Vmn1r18
|
UTSW |
6 |
57,367,463 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
| Posted On |
2013-06-21 |
Incidental Mutation