Incidental Mutation 'IGL03384:Slc6a13'
| ID |
420811 |
| 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: 0.729)
|
| Stock # |
IGL03384
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
121277247-121314680 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121309350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 287
(F287S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066779
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064580]
|
| AlphaFold |
P31649 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064580
AA Change: F287S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000066779
Gene: ENSMUSG00000030108
AA Change: F287S
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
A |
G |
11: 72,086,673 (GRCm39) |
I246T |
possibly damaging |
Het |
| Ablim2 |
C |
T |
5: 36,032,216 (GRCm39) |
R614C |
probably damaging |
Het |
| B4galt7 |
T |
C |
13: 55,757,102 (GRCm39) |
L265P |
probably damaging |
Het |
| Col4a4 |
C |
T |
1: 82,462,159 (GRCm39) |
C1072Y |
probably benign |
Het |
| Cxcr2 |
T |
C |
1: 74,197,950 (GRCm39) |
V148A |
probably damaging |
Het |
| Dnah14 |
G |
A |
1: 181,573,514 (GRCm39) |
V2942M |
probably benign |
Het |
| Fam124b |
T |
A |
1: 80,177,673 (GRCm39) |
H442L |
probably benign |
Het |
| Haus6 |
T |
C |
4: 86,501,762 (GRCm39) |
H703R |
probably benign |
Het |
| Ice1 |
T |
C |
13: 70,751,368 (GRCm39) |
T1573A |
probably benign |
Het |
| Iftap |
G |
T |
2: 101,415,608 (GRCm39) |
T115N |
probably benign |
Het |
| Ighv1-31 |
A |
G |
12: 114,793,093 (GRCm39) |
F48L |
probably benign |
Het |
| Iws1 |
C |
A |
18: 32,226,203 (GRCm39) |
A697D |
probably damaging |
Het |
| Jhy |
T |
A |
9: 40,872,228 (GRCm39) |
N94Y |
probably benign |
Het |
| Kank2 |
C |
T |
9: 21,685,874 (GRCm39) |
V667M |
possibly damaging |
Het |
| Mcam |
G |
A |
9: 44,051,809 (GRCm39) |
|
probably benign |
Het |
| Muc5ac |
A |
T |
7: 141,366,140 (GRCm39) |
I2099F |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 97,742,800 (GRCm39) |
I410V |
probably damaging |
Het |
| Nub1 |
A |
T |
5: 24,902,425 (GRCm39) |
|
probably benign |
Het |
| Nub1 |
A |
T |
5: 24,902,424 (GRCm39) |
|
probably null |
Het |
| Or10g9b |
T |
C |
9: 39,917,766 (GRCm39) |
T160A |
probably benign |
Het |
| Panx2 |
C |
T |
15: 88,952,322 (GRCm39) |
A271V |
possibly damaging |
Het |
| Papss1 |
T |
A |
3: 131,285,113 (GRCm39) |
H13Q |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,784,871 (GRCm39) |
T438A |
probably benign |
Het |
| Ppdpf |
T |
C |
2: 180,829,673 (GRCm39) |
S43P |
probably benign |
Het |
| Ptchd4 |
T |
A |
17: 42,813,481 (GRCm39) |
C461S |
probably damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,990,853 (GRCm39) |
F985S |
probably damaging |
Het |
| Rbm25 |
T |
C |
12: 83,706,297 (GRCm39) |
I214T |
probably benign |
Het |
| Sgpp1 |
T |
C |
12: 75,762,880 (GRCm39) |
|
probably benign |
Het |
| Slc22a20 |
A |
T |
19: 6,030,402 (GRCm39) |
C343* |
probably null |
Het |
| Slc22a22 |
T |
C |
15: 57,117,612 (GRCm39) |
I310V |
probably benign |
Het |
| Usp30 |
A |
G |
5: 114,259,635 (GRCm39) |
D447G |
probably damaging |
Het |
| Vmn1r78 |
A |
T |
7: 11,887,136 (GRCm39) |
Y249F |
possibly damaging |
Het |
| Vmn2r106 |
T |
C |
17: 20,488,405 (GRCm39) |
T665A |
probably damaging |
Het |
| Vps37b |
A |
G |
5: 124,145,670 (GRCm39) |
|
probably null |
Het |
| Wfdc1 |
T |
A |
8: 120,413,016 (GRCm39) |
N198K |
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 |
|
|
IGL03093:Slc6a13
|
APN |
6 |
121,309,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03358:Slc6a13
|
APN |
6 |
121,311,495 (GRCm39) |
missense |
probably benign |
|
|
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 |
Incidental Mutation