Incidental Mutation 'IGL01597:Taar8a'
| ID |
91706 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Taar8a
|
| Ensembl Gene |
ENSMUSG00000096442 |
| Gene Name |
trace amine-associated receptor 8A |
| Synonyms |
LOC215859 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
IGL01597
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
23952398-23953432 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23952756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 120
(L120P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051133]
|
| AlphaFold |
Q5QD07 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051133
AA Change: L120P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000062719
Gene: ENSMUSG00000096442
AA Change: L120P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
40 |
244 |
3.9e-8 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
42 |
327 |
7.1e-15 |
PFAM |
|
Pfam:7tm_1
|
48 |
312 |
9.1e-58 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna2d1 |
A |
T |
5: 16,531,390 (GRCm39) |
|
probably benign |
Het |
| Cdk12 |
A |
G |
11: 98,141,090 (GRCm39) |
|
probably benign |
Het |
| Ces1e |
T |
A |
8: 93,937,001 (GRCm39) |
I357F |
probably benign |
Het |
| Dicer1 |
G |
A |
12: 104,671,469 (GRCm39) |
R934* |
probably null |
Het |
| Dnah9 |
A |
T |
11: 66,009,656 (GRCm39) |
Y744N |
probably damaging |
Het |
| Fgd5 |
T |
A |
6: 91,964,910 (GRCm39) |
I381N |
probably damaging |
Het |
| Gabrg1 |
T |
C |
5: 70,939,691 (GRCm39) |
D147G |
probably damaging |
Het |
| Gpsm2 |
A |
T |
3: 108,604,303 (GRCm39) |
M385K |
probably benign |
Het |
| Hivep2 |
C |
T |
10: 14,025,118 (GRCm39) |
Q2311* |
probably null |
Het |
| Or51ah3 |
A |
G |
7: 103,210,349 (GRCm39) |
I222V |
possibly damaging |
Het |
| Or51b17 |
A |
G |
7: 103,542,303 (GRCm39) |
V213A |
probably benign |
Het |
| Or5c1 |
A |
C |
2: 37,222,023 (GRCm39) |
D88A |
possibly damaging |
Het |
| Or7e173 |
A |
T |
9: 19,938,982 (GRCm39) |
M84K |
probably damaging |
Het |
| Papss2 |
G |
A |
19: 32,615,658 (GRCm39) |
R130H |
probably damaging |
Het |
| Pik3r5 |
A |
T |
11: 68,386,827 (GRCm39) |
I819F |
probably damaging |
Het |
| Pipox |
A |
G |
11: 77,774,019 (GRCm39) |
V199A |
probably damaging |
Het |
| Pkd1l3 |
G |
T |
8: 110,350,153 (GRCm39) |
V333L |
probably benign |
Het |
| Rbl1 |
A |
G |
2: 157,037,369 (GRCm39) |
|
probably benign |
Het |
| Scyl2 |
T |
A |
10: 89,488,849 (GRCm39) |
I489F |
probably damaging |
Het |
| Serinc4 |
T |
A |
2: 121,285,472 (GRCm39) |
L100F |
probably damaging |
Het |
| Slc39a12 |
T |
A |
2: 14,439,120 (GRCm39) |
F458Y |
possibly damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,080,652 (GRCm39) |
|
probably benign |
Het |
| Syngr4 |
T |
C |
7: 45,536,390 (GRCm39) |
T211A |
probably benign |
Het |
| Tbx10 |
A |
G |
19: 4,046,736 (GRCm39) |
K72R |
probably benign |
Het |
| Tomm70a |
A |
G |
16: 56,953,551 (GRCm39) |
T149A |
probably benign |
Het |
| Traip |
T |
A |
9: 107,833,123 (GRCm39) |
|
probably null |
Het |
| Trpm3 |
G |
A |
19: 22,692,610 (GRCm39) |
G234R |
probably damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,456,580 (GRCm39) |
|
probably benign |
Het |
| Vstm5 |
T |
C |
9: 15,168,675 (GRCm39) |
W80R |
probably damaging |
Het |
| Vwa5a |
A |
T |
9: 38,645,161 (GRCm39) |
R415S |
probably damaging |
Het |
| Zfp39 |
A |
G |
11: 58,782,369 (GRCm39) |
V131A |
probably damaging |
Het |
|
| Other mutations in Taar8a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01118:Taar8a
|
APN |
10 |
23,952,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01546:Taar8a
|
APN |
10 |
23,952,813 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02387:Taar8a
|
APN |
10 |
23,953,260 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02815:Taar8a
|
APN |
10 |
23,953,278 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0762:Taar8a
|
UTSW |
10 |
23,952,975 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1690:Taar8a
|
UTSW |
10 |
23,952,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2891:Taar8a
|
UTSW |
10 |
23,953,028 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3889:Taar8a
|
UTSW |
10 |
23,952,923 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3962:Taar8a
|
UTSW |
10 |
23,953,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4090:Taar8a
|
UTSW |
10 |
23,953,062 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6580:Taar8a
|
UTSW |
10 |
23,952,791 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6605:Taar8a
|
UTSW |
10 |
23,952,674 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7422:Taar8a
|
UTSW |
10 |
23,952,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7571:Taar8a
|
UTSW |
10 |
23,953,306 (GRCm39) |
nonsense |
probably null |
|
|
R8265:Taar8a
|
UTSW |
10 |
23,952,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9317:Taar8a
|
UTSW |
10 |
23,952,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9371:Taar8a
|
UTSW |
10 |
23,952,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9710:Taar8a
|
UTSW |
10 |
23,952,714 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9755:Taar8a
|
UTSW |
10 |
23,952,995 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0022:Taar8a
|
UTSW |
10 |
23,953,406 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
X0062:Taar8a
|
UTSW |
10 |
23,953,279 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation