Incidental Mutation 'R0029:Vmn1r179'
| ID |
18659 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r179
|
| Ensembl Gene |
ENSMUSG00000046924 |
| Gene Name |
vomeronasal 1 receptor 179 |
| Synonyms |
V1rd17 |
| MMRRC Submission |
038323-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R0029 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
23627811-23628782 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23628630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 274
(I274F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055372
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049819]
|
| AlphaFold |
Q8R2B4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049819
AA Change: I274F
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000055372
Gene: ENSMUSG00000046924
AA Change: I274F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
23 |
313 |
3.8e-13 |
PFAM |
|
Pfam:7tm_1
|
45 |
304 |
2e-8 |
PFAM |
|
Pfam:V1R
|
57 |
312 |
4.2e-15 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 79.2%
- 3x: 69.9%
- 10x: 44.2%
- 20x: 23.9%
|
| Validation Efficiency |
94% (58/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,945,225 (GRCm39) |
F434L |
probably benign |
Het |
| Cpa4 |
A |
G |
6: 30,585,044 (GRCm39) |
Y276C |
probably damaging |
Het |
| Cpt1a |
A |
G |
19: 3,431,674 (GRCm39) |
D698G |
probably benign |
Het |
| Exosc7 |
A |
T |
9: 122,948,302 (GRCm39) |
|
probably benign |
Het |
| Gapvd1 |
T |
A |
2: 34,568,153 (GRCm39) |
I1404F |
probably damaging |
Het |
| Il23r |
A |
C |
6: 67,455,929 (GRCm39) |
|
probably null |
Het |
| Impg1 |
T |
C |
9: 80,305,653 (GRCm39) |
D138G |
probably damaging |
Het |
| Lmo7 |
T |
C |
14: 102,171,357 (GRCm39) |
|
probably benign |
Het |
| Nell1 |
G |
A |
7: 49,770,463 (GRCm39) |
|
probably benign |
Het |
| Per2 |
C |
A |
1: 91,351,434 (GRCm39) |
R1024L |
possibly damaging |
Het |
| Spmip11 |
T |
C |
15: 98,483,190 (GRCm39) |
|
probably null |
Het |
| Sulf2 |
T |
C |
2: 165,958,893 (GRCm39) |
N105S |
possibly damaging |
Het |
| Svil |
C |
A |
18: 5,063,286 (GRCm39) |
D852E |
probably benign |
Het |
| Tcaf2 |
A |
T |
6: 42,607,093 (GRCm39) |
L287* |
probably null |
Het |
| Tmem63a |
A |
G |
1: 180,790,031 (GRCm39) |
Y401C |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,596,850 (GRCm39) |
E20021G |
probably damaging |
Het |
|
| Other mutations in Vmn1r179 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02211:Vmn1r179
|
APN |
7 |
23,628,630 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0029:Vmn1r179
|
UTSW |
7 |
23,628,630 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0058:Vmn1r179
|
UTSW |
7 |
23,628,592 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0470:Vmn1r179
|
UTSW |
7 |
23,627,818 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1451:Vmn1r179
|
UTSW |
7 |
23,628,275 (GRCm39) |
nonsense |
probably null |
|
|
R4923:Vmn1r179
|
UTSW |
7 |
23,628,491 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4953:Vmn1r179
|
UTSW |
7 |
23,628,515 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5248:Vmn1r179
|
UTSW |
7 |
23,628,478 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5304:Vmn1r179
|
UTSW |
7 |
23,628,100 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5434:Vmn1r179
|
UTSW |
7 |
23,628,387 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6341:Vmn1r179
|
UTSW |
7 |
23,628,491 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6451:Vmn1r179
|
UTSW |
7 |
23,628,076 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6501:Vmn1r179
|
UTSW |
7 |
23,628,342 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7107:Vmn1r179
|
UTSW |
7 |
23,627,819 (GRCm39) |
nonsense |
probably null |
|
|
R7480:Vmn1r179
|
UTSW |
7 |
23,628,558 (GRCm39) |
nonsense |
probably null |
|
|
R8185:Vmn1r179
|
UTSW |
7 |
23,628,163 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8245:Vmn1r179
|
UTSW |
7 |
23,628,396 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8255:Vmn1r179
|
UTSW |
7 |
23,628,436 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8413:Vmn1r179
|
UTSW |
7 |
23,628,277 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9031:Vmn1r179
|
UTSW |
7 |
23,628,234 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9522:Vmn1r179
|
UTSW |
7 |
23,628,202 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0061:Vmn1r179
|
UTSW |
7 |
23,627,819 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Vmn1r179
|
UTSW |
7 |
23,627,907 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Posted On |
2013-03-25 |
Incidental Mutation