Incidental Mutation 'R6844:Slc6a13'
ID |
534668 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc6a13
|
Ensembl Gene |
ENSMUSG00000030108 |
Gene Name |
solute carrier family 6 (neurotransmitter transporter, GABA), member 13 |
Synonyms |
Gabt3, Gat2 |
MMRRC Submission |
044950-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.738)
|
Stock # |
R6844 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
121277247-121314680 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 121302012 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 198
(I198N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066779
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064580]
[ENSMUST00000142419]
|
AlphaFold |
P31649 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064580
AA Change: I198N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000066779 Gene: ENSMUSG00000030108 AA Change: I198N
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
32 |
556 |
6.2e-252 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142419
|
SMART Domains |
Protein: ENSMUSP00000120689 Gene: ENSMUSG00000030108
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
43 |
192 |
4e-78 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
Validation Efficiency |
92% (36/39) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap18 |
G |
A |
10: 26,648,682 (GRCm39) |
A35T |
probably benign |
Het |
Arhgap21 |
A |
G |
2: 20,886,116 (GRCm39) |
S354P |
probably benign |
Het |
Casq2 |
A |
T |
3: 102,017,578 (GRCm39) |
H86L |
possibly damaging |
Het |
Ccdc188 |
G |
A |
16: 18,036,074 (GRCm39) |
G83E |
probably damaging |
Het |
Cd22 |
G |
T |
7: 30,572,856 (GRCm39) |
|
probably null |
Het |
Cyp2b13 |
T |
A |
7: 25,781,122 (GRCm39) |
I178N |
probably damaging |
Het |
Cyp4a31 |
T |
A |
4: 115,420,989 (GRCm39) |
C26S |
probably null |
Het |
Eif3h |
T |
C |
15: 51,728,729 (GRCm39) |
D42G |
possibly damaging |
Het |
Elovl4 |
T |
A |
9: 83,672,164 (GRCm39) |
I52L |
probably benign |
Het |
Fgfbp3 |
C |
A |
19: 36,896,280 (GRCm39) |
A113S |
possibly damaging |
Het |
Fsip2 |
A |
T |
2: 82,813,969 (GRCm39) |
K3429N |
possibly damaging |
Het |
Gemin5 |
T |
C |
11: 58,054,730 (GRCm39) |
D224G |
probably benign |
Het |
Gm3415 |
T |
C |
5: 146,494,811 (GRCm39) |
I158T |
probably benign |
Het |
Gpr22 |
C |
A |
12: 31,759,951 (GRCm39) |
R20L |
probably benign |
Het |
Htr1a |
A |
G |
13: 105,581,455 (GRCm39) |
K232E |
possibly damaging |
Het |
Itgax |
T |
A |
7: 127,747,106 (GRCm39) |
|
probably null |
Het |
Jag2 |
T |
C |
12: 112,880,334 (GRCm39) |
Y310C |
probably damaging |
Het |
Lce1j |
A |
G |
3: 92,696,656 (GRCm39) |
S41P |
unknown |
Het |
Mllt10 |
A |
G |
2: 18,164,294 (GRCm39) |
I197V |
probably benign |
Het |
Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
Mybpc1 |
T |
A |
10: 88,372,243 (GRCm39) |
I796F |
possibly damaging |
Het |
Nr2c1 |
T |
A |
10: 94,007,029 (GRCm39) |
L289* |
probably null |
Het |
Omp |
T |
A |
7: 97,794,283 (GRCm39) |
M115L |
probably benign |
Het |
Pdcd1 |
C |
T |
1: 93,967,106 (GRCm39) |
R264H |
probably benign |
Het |
Plxna2 |
T |
C |
1: 194,476,136 (GRCm39) |
F1119L |
probably benign |
Het |
Ralyl |
A |
G |
3: 13,841,938 (GRCm39) |
T25A |
probably damaging |
Het |
Rapgef4 |
A |
G |
2: 72,064,970 (GRCm39) |
T656A |
probably damaging |
Het |
Ripor3 |
C |
T |
2: 167,835,253 (GRCm39) |
|
probably null |
Het |
Samd8 |
T |
C |
14: 21,825,205 (GRCm39) |
S54P |
probably damaging |
Het |
Serpinb9g |
A |
T |
13: 33,670,616 (GRCm39) |
I35F |
probably damaging |
Het |
Shisa8 |
T |
C |
15: 82,096,310 (GRCm39) |
S102G |
probably damaging |
Het |
Slc4a1ap |
T |
A |
5: 31,684,822 (GRCm39) |
S153T |
probably damaging |
Het |
Slc4a4 |
T |
A |
5: 89,376,831 (GRCm39) |
D1028E |
probably damaging |
Het |
Sst |
C |
T |
16: 23,708,592 (GRCm39) |
D80N |
probably benign |
Het |
Synj2 |
A |
G |
17: 6,026,081 (GRCm39) |
K47E |
probably damaging |
Het |
Tal1 |
C |
T |
4: 114,920,464 (GRCm39) |
P46L |
probably benign |
Het |
Top2b |
A |
T |
14: 16,429,383 (GRCm38) |
N1541I |
possibly damaging |
Het |
Vps13b |
T |
A |
15: 35,877,736 (GRCm39) |
N2903K |
probably benign |
Het |
Zfp949 |
A |
G |
9: 88,451,464 (GRCm39) |
T345A |
possibly damaging |
Het |
Zmat3 |
A |
G |
3: 32,395,644 (GRCm39) |
Y288H |
probably damaging |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AACGTTCATAGCCCTGGGTTC -3'
(R):5'- CATTCAGGAAGGAAGCCACATG -3'
Sequencing Primer
(F):5'- CTGGGTTCTAACCCTTACAC -3'
(R):5'- TGCCTGGACCAGCCTAAAG -3'
|
Posted On |
2018-09-12 |