Incidental Mutation 'IGL00930:Vmn1r199'
| ID |
28855 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn1r199
|
| Ensembl Gene |
ENSMUSG00000069292 |
| Gene Name |
vomeronasal 1 receptor 199 |
| Synonyms |
V1rh4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
IGL00930
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
22566708-22567811 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22567029 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 108
(T108A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091732]
[ENSMUST00000227685]
[ENSMUST00000227689]
[ENSMUST00000227846]
|
| AlphaFold |
Q8R280 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091732
AA Change: T108A
PolyPhen 2
Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000089326
Gene: ENSMUSG00000069292
AA Change: T108A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
37 |
N/A |
INTRINSIC |
|
Pfam:TAS2R
|
43 |
338 |
3.3e-7 |
PFAM |
|
Pfam:V1R
|
75 |
340 |
1.6e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120663
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227685
AA Change: T108A
PolyPhen 2
Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227689
AA Change: T65A
PolyPhen 2
Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227846
AA Change: T65A
PolyPhen 2
Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
T |
C |
7: 119,191,533 (GRCm39) |
S534P |
possibly damaging |
Het |
| Adamts15 |
G |
A |
9: 30,813,349 (GRCm39) |
P939S |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,578,292 (GRCm39) |
S207P |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,805,181 (GRCm39) |
K747E |
probably damaging |
Het |
| Dock5 |
G |
T |
14: 68,008,526 (GRCm39) |
N1457K |
probably damaging |
Het |
| Donson |
T |
C |
16: 91,479,479 (GRCm39) |
E323G |
possibly damaging |
Het |
| Epc1 |
T |
A |
18: 6,449,196 (GRCm39) |
M434L |
probably benign |
Het |
| Fcer1a |
A |
G |
1: 173,050,100 (GRCm39) |
|
probably benign |
Het |
| Hemgn |
A |
T |
4: 46,396,383 (GRCm39) |
C284* |
probably null |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Or7g34 |
A |
G |
9: 19,478,471 (GRCm39) |
S67P |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,466,530 (GRCm39) |
E1450K |
probably benign |
Het |
| Pfpl |
A |
T |
19: 12,407,009 (GRCm39) |
H420L |
probably benign |
Het |
| Pitpnm2 |
A |
G |
5: 124,259,726 (GRCm39) |
|
probably benign |
Het |
| Pole2 |
A |
G |
12: 69,273,219 (GRCm39) |
|
probably benign |
Het |
| Prmt3 |
T |
A |
7: 49,441,757 (GRCm39) |
Y245N |
probably damaging |
Het |
| Rpl10a |
T |
C |
17: 28,547,981 (GRCm39) |
Y41H |
probably damaging |
Het |
| Tpst1 |
A |
T |
5: 130,130,975 (GRCm39) |
K148N |
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,873,315 (GRCm39) |
C525* |
probably null |
Het |
| Zfp646 |
A |
G |
7: 127,478,302 (GRCm39) |
T160A |
possibly damaging |
Het |
|
| Other mutations in Vmn1r199 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01959:Vmn1r199
|
APN |
13 |
22,567,290 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02270:Vmn1r199
|
APN |
13 |
22,567,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02687:Vmn1r199
|
APN |
13 |
22,566,961 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03143:Vmn1r199
|
APN |
13 |
22,567,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0528:Vmn1r199
|
UTSW |
13 |
22,566,736 (GRCm39) |
missense |
probably benign |
|
|
R1411:Vmn1r199
|
UTSW |
13 |
22,567,671 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2075:Vmn1r199
|
UTSW |
13 |
22,567,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5057:Vmn1r199
|
UTSW |
13 |
22,567,575 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5824:Vmn1r199
|
UTSW |
13 |
22,567,748 (GRCm39) |
missense |
probably benign |
|
|
R5977:Vmn1r199
|
UTSW |
13 |
22,567,416 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6019:Vmn1r199
|
UTSW |
13 |
22,566,769 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6419:Vmn1r199
|
UTSW |
13 |
22,567,777 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7624:Vmn1r199
|
UTSW |
13 |
22,566,906 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7637:Vmn1r199
|
UTSW |
13 |
22,566,845 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8505:Vmn1r199
|
UTSW |
13 |
22,567,317 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8692:Vmn1r199
|
UTSW |
13 |
22,567,809 (GRCm39) |
makesense |
probably null |
|
|
R8735:Vmn1r199
|
UTSW |
13 |
22,567,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8791:Vmn1r199
|
UTSW |
13 |
22,567,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9054:Vmn1r199
|
UTSW |
13 |
22,567,724 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9258:Vmn1r199
|
UTSW |
13 |
22,566,822 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9586:Vmn1r199
|
UTSW |
13 |
22,567,716 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation