Incidental Mutation 'IGL01118:Taar8a'
ID |
52118 |
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 # |
IGL01118
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
23952398-23953432 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 23952759 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 121
(H121L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062719
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051133]
|
AlphaFold |
Q5QD07 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000051133
AA Change: H121L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000062719 Gene: ENSMUSG00000096442 AA Change: H121L
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
C |
T |
3: 124,195,058 (GRCm39) |
R539Q |
probably benign |
Het |
Abcb1a |
G |
A |
5: 8,724,687 (GRCm39) |
R40H |
probably damaging |
Het |
Acan |
T |
A |
7: 78,748,401 (GRCm39) |
S1057R |
possibly damaging |
Het |
Ahnak |
A |
T |
19: 8,989,942 (GRCm39) |
D3742V |
probably damaging |
Het |
Amdhd1 |
A |
T |
10: 93,367,430 (GRCm39) |
D241E |
probably benign |
Het |
Cntn5 |
T |
C |
9: 9,831,565 (GRCm39) |
Y605C |
possibly damaging |
Het |
Dnmt3l |
T |
C |
10: 77,893,120 (GRCm39) |
F299S |
probably damaging |
Het |
Eif1ad19 |
T |
A |
12: 87,740,212 (GRCm39) |
N116Y |
probably damaging |
Het |
Ess2 |
A |
T |
16: 17,720,796 (GRCm39) |
I350N |
probably damaging |
Het |
G6pd2 |
A |
T |
5: 61,967,406 (GRCm39) |
M394L |
probably benign |
Het |
Gm9839 |
A |
T |
1: 32,558,924 (GRCm39) |
M386K |
probably benign |
Het |
Gtf2h3 |
T |
C |
5: 124,733,731 (GRCm39) |
V268A |
probably damaging |
Het |
Hgs |
T |
C |
11: 120,366,040 (GRCm39) |
V195A |
probably damaging |
Het |
Igkv3-2 |
A |
T |
6: 70,675,978 (GRCm39) |
S96C |
probably damaging |
Het |
Mgl2 |
A |
G |
11: 70,025,015 (GRCm39) |
E12G |
probably benign |
Het |
Mup11 |
A |
T |
4: 60,615,779 (GRCm39) |
F153I |
probably damaging |
Het |
Nf1 |
T |
A |
11: 79,437,812 (GRCm39) |
C2057S |
probably damaging |
Het |
Nkrf |
A |
G |
X: 36,152,410 (GRCm39) |
F624S |
probably damaging |
Het |
Noto |
T |
C |
6: 85,401,192 (GRCm39) |
S74P |
probably benign |
Het |
Or8k40 |
A |
G |
2: 86,584,314 (GRCm39) |
I256T |
probably benign |
Het |
Pax8 |
T |
C |
2: 24,332,944 (GRCm39) |
|
probably benign |
Het |
Psg28 |
A |
T |
7: 18,162,017 (GRCm39) |
V162D |
probably damaging |
Het |
Rai1 |
T |
C |
11: 60,078,264 (GRCm39) |
F776S |
probably damaging |
Het |
Tas2r113 |
A |
G |
6: 132,870,278 (GRCm39) |
N102S |
probably benign |
Het |
Trpm1 |
A |
G |
7: 63,885,572 (GRCm39) |
T863A |
probably benign |
Het |
Ttf2 |
A |
G |
3: 100,874,413 (GRCm39) |
|
probably benign |
Het |
Wdr62 |
T |
C |
7: 29,942,206 (GRCm39) |
H611R |
probably damaging |
Het |
Wdr90 |
A |
T |
17: 26,073,661 (GRCm39) |
L762Q |
probably damaging |
Het |
Yeats2 |
T |
G |
16: 20,005,054 (GRCm39) |
S364A |
probably damaging |
Het |
Zdhhc15 |
G |
T |
X: 103,641,712 (GRCm39) |
Q82K |
probably benign |
Het |
|
Other mutations in Taar8a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01546:Taar8a
|
APN |
10 |
23,952,813 (GRCm39) |
missense |
possibly damaging |
0.95 |
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 |
2013-06-21 |