Incidental Mutation 'R7379:Slc6a13'
| ID |
572576 |
| 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 |
045461-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.738)
|
| Stock # |
R7379 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
121277247-121314680 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 121313798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 514
(K514*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066779
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064580]
|
| AlphaFold |
P31649 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000064580
AA Change: K514*
|
| SMART Domains |
Protein: ENSMUSP00000066779
Gene: ENSMUSG00000030108
AA Change: K514*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
32 |
556 |
6.2e-252 |
PFAM |
|
| Meta Mutation Damage Score |
0.9718 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (48/48) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd12 |
G |
A |
17: 66,292,242 (GRCm39) |
R1064* |
probably null |
Het |
| Ccdc149 |
A |
G |
5: 52,562,408 (GRCm39) |
I206T |
probably damaging |
Het |
| Ctu1 |
AGGACCGGGCAGGAGCCACCTGTGTATCGCAGAGGGACCTGAGCCTTGGGAATGGAGGGGACCGGGCAGGAGCCACCTGTGTATCGCAG |
AGGACCGGGCAGGAGCCACCTGTGTATCGCAG |
7: 43,326,490 (GRCm39) |
|
probably benign |
Het |
| Cyp2j6 |
T |
C |
4: 96,414,183 (GRCm39) |
T361A |
probably damaging |
Het |
| Cyp4a14 |
A |
T |
4: 115,350,907 (GRCm39) |
|
probably null |
Het |
| Cyp7b1 |
A |
G |
3: 18,151,538 (GRCm39) |
V225A |
probably benign |
Het |
| Esf1 |
A |
G |
2: 139,996,854 (GRCm39) |
I503T |
probably benign |
Het |
| Flrt2 |
G |
A |
12: 95,747,329 (GRCm39) |
V556I |
possibly damaging |
Het |
| Gaa |
T |
C |
11: 119,174,525 (GRCm39) |
S791P |
probably benign |
Het |
| H2-T22 |
A |
G |
17: 36,353,232 (GRCm39) |
|
probably null |
Het |
| Hexb |
A |
G |
13: 97,317,672 (GRCm39) |
S342P |
probably damaging |
Het |
| Ift122 |
C |
T |
6: 115,903,263 (GRCm39) |
R1176C |
probably benign |
Het |
| Ift57 |
A |
G |
16: 49,581,357 (GRCm39) |
E341G |
probably damaging |
Het |
| Itpkc |
A |
T |
7: 26,927,194 (GRCm39) |
I240K |
probably benign |
Het |
| Kit |
A |
T |
5: 75,808,412 (GRCm39) |
S719C |
probably damaging |
Het |
| Klf1 |
T |
A |
8: 85,629,846 (GRCm39) |
Y224N |
possibly damaging |
Het |
| Krt77 |
T |
C |
15: 101,769,709 (GRCm39) |
E387G |
probably damaging |
Het |
| L3mbtl1 |
T |
A |
2: 162,802,899 (GRCm39) |
D347E |
probably damaging |
Het |
| Map1s |
A |
G |
8: 71,366,219 (GRCm39) |
T375A |
possibly damaging |
Het |
| Mturn |
A |
G |
6: 54,666,069 (GRCm39) |
T81A |
possibly damaging |
Het |
| Mug2 |
A |
G |
6: 122,024,446 (GRCm39) |
E506G |
possibly damaging |
Het |
| Notch1 |
A |
G |
2: 26,369,479 (GRCm39) |
F512S |
probably damaging |
Het |
| Or10g1 |
T |
C |
14: 52,647,718 (GRCm39) |
T204A |
probably benign |
Het |
| Or12e13 |
T |
A |
2: 87,664,123 (GRCm39) |
C247S |
probably damaging |
Het |
| Or4c12b |
T |
A |
2: 89,647,033 (GRCm39) |
V115E |
probably benign |
Het |
| Or9s14 |
G |
T |
1: 92,536,189 (GRCm39) |
C210F |
possibly damaging |
Het |
| Pcdhga10 |
A |
G |
18: 37,880,619 (GRCm39) |
N127D |
probably damaging |
Het |
| Plb1 |
A |
G |
5: 32,502,983 (GRCm39) |
I1148V |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,212,430 (GRCm39) |
D1007G |
probably benign |
Het |
| Prdm16 |
T |
A |
4: 154,613,316 (GRCm39) |
E37V |
probably damaging |
Het |
| Prss45 |
C |
A |
9: 110,668,261 (GRCm39) |
N151K |
possibly damaging |
Het |
| Rngtt |
A |
T |
4: 33,498,981 (GRCm39) |
K513* |
probably null |
Het |
| Serpinb10 |
T |
C |
1: 107,460,117 (GRCm39) |
|
probably benign |
Het |
| Shc1 |
T |
C |
3: 89,334,129 (GRCm39) |
V402A |
probably benign |
Het |
| Slc25a38 |
T |
A |
9: 119,949,902 (GRCm39) |
L227Q |
probably benign |
Het |
| Sorcs3 |
T |
C |
19: 48,760,705 (GRCm39) |
V911A |
possibly damaging |
Het |
| Sptb |
A |
T |
12: 76,657,651 (GRCm39) |
I1290N |
probably damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,089,292 (GRCm39) |
K657E |
possibly damaging |
Het |
| Stpg4 |
T |
A |
17: 87,735,068 (GRCm39) |
|
probably null |
Het |
| Stx2 |
A |
G |
5: 129,064,863 (GRCm39) |
V278A |
possibly damaging |
Het |
| Thoc1 |
A |
T |
18: 9,992,902 (GRCm39) |
N558I |
probably benign |
Het |
| Trpm2 |
T |
C |
10: 77,750,568 (GRCm39) |
T1343A |
probably benign |
Het |
| Usf3 |
T |
A |
16: 44,040,939 (GRCm39) |
D1806E |
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,037 (GRCm39) |
M787I |
possibly damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,873,566 (GRCm39) |
S248P |
|
Het |
| Zeb2 |
G |
T |
2: 44,891,829 (GRCm39) |
|
probably null |
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 |
|
R6844:Slc6a13
|
UTSW |
6 |
121,302,012 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- TCCTTACTAGAGCGACTGAGGAG -3'
(R):5'- ATCCAGTGAGGTTCCCATCC -3'
Sequencing Primer
(F):5'- CTACCCAGGAATGGATTTTGAGC -3'
(R):5'- GAGGTTCCCATCCCCCACTG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation