Incidental Mutation 'IGL01546:Taar8a'
ID |
90336 |
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: 0.087)
|
Stock # |
IGL01546
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
23952398-23953432 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 23952813 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 139
(Y139F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062719
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051133]
|
AlphaFold |
Q5QD07 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051133
AA Change: Y139F
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000062719 Gene: ENSMUSG00000096442 AA Change: Y139F
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amdhd2 |
C |
A |
17: 24,382,574 (GRCm39) |
R22L |
probably benign |
Het |
Arg2 |
T |
C |
12: 79,196,633 (GRCm39) |
|
probably benign |
Het |
Catip |
T |
C |
1: 74,401,954 (GRCm39) |
L43P |
probably damaging |
Het |
Ccdc30 |
A |
C |
4: 119,255,385 (GRCm39) |
L123R |
probably damaging |
Het |
Cep89 |
T |
C |
7: 35,120,325 (GRCm39) |
L369P |
probably damaging |
Het |
Dolpp1 |
T |
C |
2: 30,287,107 (GRCm39) |
F180L |
probably damaging |
Het |
Kctd19 |
T |
C |
8: 106,113,594 (GRCm39) |
H670R |
probably benign |
Het |
Kntc1 |
T |
A |
5: 123,903,068 (GRCm39) |
I315N |
probably benign |
Het |
Mfsd4b2 |
A |
T |
10: 39,797,471 (GRCm39) |
W295R |
probably damaging |
Het |
Mgam |
A |
G |
6: 40,631,627 (GRCm39) |
T116A |
probably damaging |
Het |
Mn1 |
A |
T |
5: 111,569,114 (GRCm39) |
D1028V |
probably damaging |
Het |
Or1e17 |
G |
A |
11: 73,832,020 (GRCm39) |
G316D |
probably benign |
Het |
Or2ag1b |
A |
G |
7: 106,288,738 (GRCm39) |
S67P |
probably damaging |
Het |
Or52b1 |
T |
C |
7: 104,978,899 (GRCm39) |
R167G |
probably damaging |
Het |
Or52j3 |
A |
T |
7: 102,836,617 (GRCm39) |
I270F |
probably damaging |
Het |
Or7a40 |
A |
G |
16: 16,491,129 (GRCm39) |
S239P |
probably damaging |
Het |
Or7g27 |
T |
G |
9: 19,250,068 (GRCm39) |
V104G |
possibly damaging |
Het |
Phc3 |
C |
A |
3: 31,015,888 (GRCm39) |
A108S |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,429,712 (GRCm39) |
Y3310C |
probably damaging |
Het |
Ppp4r3b |
T |
C |
11: 29,159,488 (GRCm39) |
|
probably null |
Het |
Slx4ip |
A |
G |
2: 136,908,119 (GRCm39) |
T159A |
probably benign |
Het |
Sos1 |
T |
A |
17: 80,716,040 (GRCm39) |
Y974F |
probably damaging |
Het |
Spaca7b |
T |
A |
8: 11,706,136 (GRCm39) |
M133L |
probably benign |
Het |
Vcam1 |
A |
G |
3: 115,909,591 (GRCm39) |
C579R |
possibly damaging |
Het |
Zdhhc17 |
C |
T |
10: 110,782,054 (GRCm39) |
V547M |
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 |
IGL01597:Taar8a
|
APN |
10 |
23,952,756 (GRCm39) |
missense |
possibly damaging |
0.96 |
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 |
2013-12-03 |