Incidental Mutation 'IGL03093:Slc6a13'
ID |
418459 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc6a13
|
Ensembl Gene |
ENSMUSG00000030108 |
Gene Name |
solute carrier family 6 (neurotransmitter transporter, GABA), member 13 |
Synonyms |
Gabt3, Gat2 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.738)
|
Stock # |
IGL03093
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
121277247-121314680 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 121309407 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 306
(Y306C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066779
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064580]
|
AlphaFold |
P31649 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064580
AA Change: Y306C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000066779 Gene: ENSMUSG00000030108 AA Change: Y306C
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
32 |
556 |
6.2e-252 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142021
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced taurine levels in the liver and increased taurine levels in the brain. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Add3 |
A |
G |
19: 53,219,638 (GRCm39) |
D121G |
probably damaging |
Het |
Cacna1s |
A |
G |
1: 136,043,802 (GRCm39) |
D1380G |
probably benign |
Het |
Clca3a1 |
T |
C |
3: 144,453,262 (GRCm39) |
Y487C |
probably damaging |
Het |
Coro2a |
A |
G |
4: 46,544,158 (GRCm39) |
S278P |
possibly damaging |
Het |
Creb3l3 |
A |
G |
10: 80,927,047 (GRCm39) |
S128P |
probably benign |
Het |
Dab2 |
A |
G |
15: 6,465,892 (GRCm39) |
R697G |
probably damaging |
Het |
Erap1 |
T |
C |
13: 74,823,399 (GRCm39) |
F811S |
probably benign |
Het |
Fam170b |
A |
G |
14: 32,557,482 (GRCm39) |
S106G |
probably damaging |
Het |
Galk2 |
T |
C |
2: 125,771,563 (GRCm39) |
L196P |
probably damaging |
Het |
Gan |
T |
C |
8: 117,910,314 (GRCm39) |
M81T |
probably benign |
Het |
Gemin2 |
A |
G |
12: 59,068,511 (GRCm39) |
T197A |
probably benign |
Het |
Hemgn |
A |
T |
4: 46,396,504 (GRCm39) |
M244K |
probably benign |
Het |
Htr6 |
A |
G |
4: 138,789,080 (GRCm39) |
F325S |
probably damaging |
Het |
Igkv9-120 |
A |
G |
6: 68,027,398 (GRCm39) |
D104G |
probably damaging |
Het |
Itpr2 |
A |
C |
6: 146,281,008 (GRCm39) |
I216S |
probably damaging |
Het |
Lingo1 |
T |
C |
9: 56,526,748 (GRCm39) |
I614V |
possibly damaging |
Het |
Mep1b |
C |
T |
18: 21,226,710 (GRCm39) |
T524M |
probably benign |
Het |
Mtif2 |
A |
G |
11: 29,480,702 (GRCm39) |
|
probably benign |
Het |
Mylk |
G |
A |
16: 34,732,562 (GRCm39) |
R614H |
possibly damaging |
Het |
Or2ag2 |
T |
C |
7: 106,485,410 (GRCm39) |
T205A |
probably benign |
Het |
Or52s19 |
T |
C |
7: 103,007,446 (GRCm39) |
|
probably benign |
Het |
Pabpc4 |
G |
A |
4: 123,180,502 (GRCm39) |
D75N |
probably damaging |
Het |
Paics |
T |
A |
5: 77,109,355 (GRCm39) |
|
probably null |
Het |
Prl |
T |
A |
13: 27,248,870 (GRCm39) |
I172N |
probably benign |
Het |
Ripk2 |
A |
G |
4: 16,152,056 (GRCm39) |
S168P |
probably damaging |
Het |
Siglecf |
T |
C |
7: 43,001,865 (GRCm39) |
V225A |
probably damaging |
Het |
Slc36a1 |
A |
G |
11: 55,110,430 (GRCm39) |
I86V |
probably benign |
Het |
Soat2 |
T |
A |
15: 102,066,078 (GRCm39) |
L250Q |
probably damaging |
Het |
Tex38 |
A |
G |
4: 115,637,762 (GRCm39) |
S14P |
probably damaging |
Het |
Tm2d1 |
A |
T |
4: 98,268,921 (GRCm39) |
C59S |
possibly damaging |
Het |
Tmco1 |
A |
G |
1: 167,143,848 (GRCm39) |
D82G |
probably damaging |
Het |
Tmem245 |
G |
A |
4: 56,886,019 (GRCm39) |
R866W |
probably damaging |
Het |
Tnip1 |
G |
T |
11: 54,831,652 (GRCm39) |
Y7* |
probably null |
Het |
Trp73 |
A |
G |
4: 154,189,330 (GRCm39) |
M48T |
probably benign |
Het |
Tslp |
T |
C |
18: 32,948,612 (GRCm39) |
|
probably benign |
Het |
Usp47 |
T |
C |
7: 111,688,827 (GRCm39) |
F745L |
probably damaging |
Het |
Vmn2r53 |
T |
A |
7: 12,334,791 (GRCm39) |
T290S |
probably benign |
Het |
Wdr1 |
T |
C |
5: 38,718,472 (GRCm39) |
D30G |
probably benign |
Het |
Zkscan2 |
T |
C |
7: 123,094,073 (GRCm39) |
Y247C |
probably benign |
Het |
|
Other mutations in Slc6a13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01131:Slc6a13
|
APN |
6 |
121,298,600 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01947:Slc6a13
|
APN |
6 |
121,302,116 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01969:Slc6a13
|
APN |
6 |
121,312,601 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02546:Slc6a13
|
APN |
6 |
121,310,323 (GRCm39) |
missense |
probably benign |
|
IGL02988:Slc6a13
|
APN |
6 |
121,303,066 (GRCm39) |
unclassified |
probably benign |
|
IGL03358:Slc6a13
|
APN |
6 |
121,311,495 (GRCm39) |
missense |
probably benign |
|
IGL03384:Slc6a13
|
APN |
6 |
121,309,350 (GRCm39) |
missense |
probably damaging |
1.00 |
ANU74:Slc6a13
|
UTSW |
6 |
121,311,835 (GRCm39) |
missense |
probably benign |
0.42 |
R0217:Slc6a13
|
UTSW |
6 |
121,301,279 (GRCm39) |
missense |
probably damaging |
0.99 |
R0230:Slc6a13
|
UTSW |
6 |
121,301,262 (GRCm39) |
missense |
probably benign |
0.03 |
R0744:Slc6a13
|
UTSW |
6 |
121,279,826 (GRCm39) |
missense |
probably damaging |
1.00 |
R1546:Slc6a13
|
UTSW |
6 |
121,309,333 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1604:Slc6a13
|
UTSW |
6 |
121,309,328 (GRCm39) |
missense |
probably benign |
0.02 |
R1654:Slc6a13
|
UTSW |
6 |
121,313,885 (GRCm39) |
missense |
probably benign |
|
R1781:Slc6a13
|
UTSW |
6 |
121,311,811 (GRCm39) |
missense |
probably damaging |
0.99 |
R1978:Slc6a13
|
UTSW |
6 |
121,309,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R2130:Slc6a13
|
UTSW |
6 |
121,302,000 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4570:Slc6a13
|
UTSW |
6 |
121,313,101 (GRCm39) |
critical splice donor site |
probably null |
|
R4623:Slc6a13
|
UTSW |
6 |
121,302,104 (GRCm39) |
missense |
probably damaging |
0.99 |
R4755:Slc6a13
|
UTSW |
6 |
121,302,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R5068:Slc6a13
|
UTSW |
6 |
121,310,301 (GRCm39) |
missense |
probably damaging |
0.99 |
R5485:Slc6a13
|
UTSW |
6 |
121,313,032 (GRCm39) |
missense |
probably damaging |
1.00 |
R5687:Slc6a13
|
UTSW |
6 |
121,279,700 (GRCm39) |
missense |
probably benign |
0.00 |
R6045:Slc6a13
|
UTSW |
6 |
121,298,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R6235:Slc6a13
|
UTSW |
6 |
121,279,753 (GRCm39) |
missense |
probably benign |
0.02 |
R6338:Slc6a13
|
UTSW |
6 |
121,311,798 (GRCm39) |
missense |
probably damaging |
0.96 |
R6393:Slc6a13
|
UTSW |
6 |
121,313,801 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6844:Slc6a13
|
UTSW |
6 |
121,302,012 (GRCm39) |
missense |
probably damaging |
0.99 |
R7379:Slc6a13
|
UTSW |
6 |
121,313,798 (GRCm39) |
nonsense |
probably null |
|
R7734:Slc6a13
|
UTSW |
6 |
121,314,334 (GRCm39) |
missense |
probably benign |
0.00 |
R7800:Slc6a13
|
UTSW |
6 |
121,298,658 (GRCm39) |
missense |
probably damaging |
0.98 |
R7862:Slc6a13
|
UTSW |
6 |
121,312,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R7935:Slc6a13
|
UTSW |
6 |
121,311,450 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8177:Slc6a13
|
UTSW |
6 |
121,301,987 (GRCm39) |
nonsense |
probably null |
|
R8324:Slc6a13
|
UTSW |
6 |
121,314,373 (GRCm39) |
makesense |
probably null |
|
R8457:Slc6a13
|
UTSW |
6 |
121,303,063 (GRCm39) |
splice site |
probably null |
|
R8992:Slc6a13
|
UTSW |
6 |
121,313,901 (GRCm39) |
nonsense |
probably null |
|
R8995:Slc6a13
|
UTSW |
6 |
121,302,012 (GRCm39) |
missense |
probably damaging |
1.00 |
R9104:Slc6a13
|
UTSW |
6 |
121,313,044 (GRCm39) |
missense |
probably benign |
|
R9168:Slc6a13
|
UTSW |
6 |
121,302,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R9235:Slc6a13
|
UTSW |
6 |
121,301,984 (GRCm39) |
missense |
probably damaging |
0.98 |
R9242:Slc6a13
|
UTSW |
6 |
121,295,228 (GRCm39) |
missense |
probably damaging |
0.99 |
RF020:Slc6a13
|
UTSW |
6 |
121,301,310 (GRCm39) |
critical splice donor site |
probably null |
|
Z1177:Slc6a13
|
UTSW |
6 |
121,311,462 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
Posted On |
2016-08-02 |