Incidental Mutation 'IGL01131:Slc6a13'
ID |
51361 |
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 # |
IGL01131
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
121277247-121314680 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 121298600 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 150
(Y150C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120689
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064580]
[ENSMUST00000142419]
|
AlphaFold |
P31649 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064580
AA Change: Y139C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000066779 Gene: ENSMUSG00000030108 AA Change: Y139C
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
32 |
556 |
6.2e-252 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104848
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142021
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000142419
AA Change: Y150C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120689 Gene: ENSMUSG00000030108 AA Change: Y150C
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
43 |
192 |
4e-78 |
PFAM |
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
Adgrf5 |
G |
T |
17: 43,733,400 (GRCm39) |
D75Y |
possibly damaging |
Het |
Cfap20 |
T |
C |
8: 96,151,287 (GRCm39) |
D18G |
probably damaging |
Het |
Cpne3 |
T |
C |
4: 19,543,318 (GRCm39) |
D160G |
probably damaging |
Het |
Ercc3 |
A |
G |
18: 32,402,942 (GRCm39) |
*784W |
probably null |
Het |
Fam53b |
T |
C |
7: 132,317,511 (GRCm39) |
E377G |
probably damaging |
Het |
Far2 |
T |
C |
6: 148,052,096 (GRCm39) |
V125A |
possibly damaging |
Het |
Fasn |
T |
C |
11: 120,705,445 (GRCm39) |
E1192G |
probably benign |
Het |
Irf5 |
A |
G |
6: 29,536,102 (GRCm39) |
E372G |
probably damaging |
Het |
Kif2c |
C |
T |
4: 117,029,562 (GRCm39) |
V140M |
probably damaging |
Het |
Klre1 |
T |
C |
6: 129,561,133 (GRCm39) |
F165L |
possibly damaging |
Het |
Kmt2a |
C |
T |
9: 44,732,467 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
C |
T |
2: 69,329,583 (GRCm39) |
C1728Y |
probably damaging |
Het |
Muc4 |
C |
A |
16: 32,753,901 (GRCm38) |
T1259N |
possibly damaging |
Het |
Nlrp9b |
A |
G |
7: 19,757,462 (GRCm39) |
D233G |
probably damaging |
Het |
Nuf2 |
T |
C |
1: 169,349,933 (GRCm39) |
|
probably benign |
Het |
Nynrin |
A |
G |
14: 56,110,142 (GRCm39) |
K1750E |
probably damaging |
Het |
Or5b109 |
A |
G |
19: 13,212,103 (GRCm39) |
D163G |
probably benign |
Het |
Parp4 |
C |
A |
14: 56,823,217 (GRCm39) |
|
probably benign |
Het |
Rbms1 |
T |
C |
2: 60,589,180 (GRCm39) |
M287V |
probably benign |
Het |
Rhox3c |
G |
A |
X: 36,651,982 (GRCm39) |
R71K |
probably damaging |
Het |
Rufy1 |
A |
G |
11: 50,282,850 (GRCm39) |
L638P |
probably damaging |
Het |
Slc15a3 |
G |
A |
19: 10,834,986 (GRCm39) |
|
probably benign |
Het |
Slc26a9 |
T |
C |
1: 131,683,280 (GRCm39) |
|
probably null |
Het |
Slitrk6 |
A |
T |
14: 110,989,008 (GRCm39) |
L233Q |
probably damaging |
Het |
Ugt3a1 |
T |
A |
15: 9,365,248 (GRCm39) |
I287N |
probably damaging |
Het |
Unc13c |
T |
C |
9: 73,471,335 (GRCm39) |
N1778S |
probably benign |
Het |
Vmn1r212 |
T |
C |
13: 23,067,329 (GRCm39) |
N335D |
unknown |
Het |
Wdfy1 |
C |
T |
1: 79,691,589 (GRCm39) |
V273I |
probably benign |
Het |
|
Other mutations in Slc6a13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
IGL03093:Slc6a13
|
APN |
6 |
121,309,407 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-06-21 |