Incidental Mutation 'R8512:Slc6a11'
| ID |
655928 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc6a11
|
| Ensembl Gene |
ENSMUSG00000030307 |
| Gene Name |
solute carrier family 6 (neurotransmitter transporter, GABA), member 11 |
| Synonyms |
GAT4, Gabt4, E130202I16Rik, Gat3, D930045G19Rik |
| MMRRC Submission |
067846-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8512 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
114108202-114226847 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114215402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 434
(L434P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032451
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032451]
|
| AlphaFold |
P31650 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032451
AA Change: L434P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032451
Gene: ENSMUSG00000030307
AA Change: L434P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
33 |
N/A |
INTRINSIC |
|
Pfam:SNF
|
45 |
571 |
4.1e-250 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a sodium-dependent transporter that uptakes gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter, which ends the GABA neurotransmission. Defects in this gene may result in epilepsy, behavioral problems, or intellectual problems. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a targeted mutation display postnatal lethality. Mice heterozygous for a targeted mutation display resistance to pharmacologically induced seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
T |
C |
17: 56,125,760 (GRCm39) |
|
probably null |
Het |
| Akap13 |
T |
C |
7: 75,260,834 (GRCm39) |
S350P |
probably damaging |
Het |
| Celsr2 |
A |
G |
3: 108,321,154 (GRCm39) |
F553L |
probably damaging |
Het |
| Ces3a |
A |
T |
8: 105,784,661 (GRCm39) |
T548S |
probably benign |
Het |
| Chtf8 |
G |
A |
8: 107,612,066 (GRCm39) |
T291I |
probably benign |
Het |
| Ckmt1 |
A |
T |
2: 121,191,689 (GRCm39) |
R286S |
probably damaging |
Het |
| Dnajb2 |
C |
T |
1: 75,218,075 (GRCm39) |
R191W |
|
Het |
| Dtnbp1 |
G |
T |
13: 45,075,867 (GRCm39) |
A292E |
probably benign |
Het |
| Esrrg |
T |
G |
1: 187,775,777 (GRCm39) |
Y101* |
probably null |
Het |
| Etaa1 |
G |
A |
11: 17,897,442 (GRCm39) |
S225L |
probably damaging |
Het |
| Evi5l |
A |
G |
8: 4,243,121 (GRCm39) |
Y335C |
probably benign |
Het |
| Fcho2 |
T |
C |
13: 98,891,730 (GRCm39) |
D344G |
possibly damaging |
Het |
| Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
| Gsdmc2 |
C |
T |
15: 63,706,864 (GRCm39) |
V101I |
probably null |
Het |
| Gsdmc4 |
A |
G |
15: 63,763,808 (GRCm39) |
C430R |
probably damaging |
Het |
| Irak4 |
A |
C |
15: 94,464,659 (GRCm39) |
I410L |
probably benign |
Het |
| Kirrel1 |
A |
G |
3: 86,995,534 (GRCm39) |
V436A |
probably benign |
Het |
| Lrrc30 |
T |
A |
17: 67,938,947 (GRCm39) |
Q211L |
probably damaging |
Het |
| Map4k1 |
C |
T |
7: 28,695,583 (GRCm39) |
H512Y |
possibly damaging |
Het |
| Matn3 |
T |
A |
12: 9,011,183 (GRCm39) |
S365T |
probably benign |
Het |
| Msantd2 |
T |
C |
9: 37,434,231 (GRCm39) |
I358T |
possibly damaging |
Het |
| Msantd5 |
T |
A |
11: 51,125,487 (GRCm39) |
S137T |
probably benign |
Het |
| Msx3 |
G |
T |
7: 139,628,884 (GRCm39) |
A10E |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,549,488 (GRCm39) |
T5602A |
probably benign |
Het |
| Myh2 |
T |
C |
11: 67,081,187 (GRCm39) |
S1268P |
probably benign |
Het |
| Mynn |
C |
T |
3: 30,670,798 (GRCm39) |
P557S |
probably damaging |
Het |
| Naglu |
T |
C |
11: 100,961,168 (GRCm39) |
V73A |
probably benign |
Het |
| Ncor1 |
AGCTGCTGCTGCTGCTGCTGCTGCTG |
AGCTGCTGCTGCTGCTGCTGCTG |
11: 62,324,437 (GRCm39) |
|
probably benign |
Het |
| Or10al3 |
T |
A |
17: 38,012,071 (GRCm39) |
F170Y |
probably damaging |
Het |
| Or6c75 |
T |
A |
10: 129,337,496 (GRCm39) |
S240T |
probably damaging |
Het |
| P2rx3 |
C |
T |
2: 84,854,755 (GRCm39) |
E100K |
probably damaging |
Het |
| Pnisr |
C |
T |
4: 21,870,372 (GRCm39) |
Q375* |
probably null |
Het |
| Psmb9 |
C |
T |
17: 34,402,602 (GRCm39) |
C126Y |
probably benign |
Het |
| Ptprt |
A |
G |
2: 161,400,783 (GRCm39) |
F1085L |
probably benign |
Het |
| Rev3l |
A |
G |
10: 39,697,534 (GRCm39) |
Y677C |
probably damaging |
Het |
| Rftn2 |
G |
A |
1: 55,253,324 (GRCm39) |
P93L |
probably damaging |
Het |
| Rtl1 |
T |
A |
12: 109,561,051 (GRCm39) |
M263L |
unknown |
Het |
| Sec24c |
T |
C |
14: 20,740,920 (GRCm39) |
V722A |
possibly damaging |
Het |
| Slc2a7 |
T |
C |
4: 150,247,752 (GRCm39) |
L384P |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,648,826 (GRCm39) |
E1869G |
possibly damaging |
Het |
| Susd2 |
G |
A |
10: 75,475,485 (GRCm39) |
T473I |
probably benign |
Het |
| Synpo |
C |
T |
18: 60,735,483 (GRCm39) |
R821H |
probably damaging |
Het |
| Tdrd9 |
G |
A |
12: 112,012,627 (GRCm39) |
V1184I |
probably benign |
Het |
| Tle1 |
T |
G |
4: 72,040,670 (GRCm39) |
K630Q |
possibly damaging |
Het |
| Traf3 |
A |
T |
12: 111,228,426 (GRCm39) |
T546S |
probably benign |
Het |
| Ttc17 |
G |
A |
2: 94,202,108 (GRCm39) |
T398M |
probably damaging |
Het |
| Ttn |
G |
C |
2: 76,698,692 (GRCm39) |
N136K |
|
Het |
| Ttn |
T |
C |
2: 76,747,111 (GRCm39) |
E4646G |
probably benign |
Het |
| Xbp1 |
T |
C |
11: 5,474,266 (GRCm39) |
S156P |
probably damaging |
Het |
| Yipf7 |
C |
T |
5: 69,674,387 (GRCm39) |
V253I |
probably benign |
Het |
|
| Other mutations in Slc6a11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01303:Slc6a11
|
APN |
6 |
114,111,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01306:Slc6a11
|
APN |
6 |
114,111,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01308:Slc6a11
|
APN |
6 |
114,111,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01616:Slc6a11
|
APN |
6 |
114,111,829 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01985:Slc6a11
|
APN |
6 |
114,111,853 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02270:Slc6a11
|
APN |
6 |
114,215,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02692:Slc6a11
|
APN |
6 |
114,139,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02828:Slc6a11
|
APN |
6 |
114,111,948 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL03135:Slc6a11
|
APN |
6 |
114,171,570 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
ANU23:Slc6a11
|
UTSW |
6 |
114,111,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0603:Slc6a11
|
UTSW |
6 |
114,221,851 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1147:Slc6a11
|
UTSW |
6 |
114,221,831 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1147:Slc6a11
|
UTSW |
6 |
114,221,831 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1219:Slc6a11
|
UTSW |
6 |
114,202,772 (GRCm39) |
splice site |
probably benign |
|
|
R1226:Slc6a11
|
UTSW |
6 |
114,171,624 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1676:Slc6a11
|
UTSW |
6 |
114,224,627 (GRCm39) |
missense |
probably benign |
|
|
R2231:Slc6a11
|
UTSW |
6 |
114,171,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2297:Slc6a11
|
UTSW |
6 |
114,108,386 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4384:Slc6a11
|
UTSW |
6 |
114,224,688 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4556:Slc6a11
|
UTSW |
6 |
114,221,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4564:Slc6a11
|
UTSW |
6 |
114,108,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5488:Slc6a11
|
UTSW |
6 |
114,220,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5736:Slc6a11
|
UTSW |
6 |
114,139,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6021:Slc6a11
|
UTSW |
6 |
114,207,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6150:Slc6a11
|
UTSW |
6 |
114,222,579 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6733:Slc6a11
|
UTSW |
6 |
114,111,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7391:Slc6a11
|
UTSW |
6 |
114,215,422 (GRCm39) |
missense |
probably benign |
|
|
R7451:Slc6a11
|
UTSW |
6 |
114,222,644 (GRCm39) |
nonsense |
probably null |
|
|
R7750:Slc6a11
|
UTSW |
6 |
114,207,098 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8115:Slc6a11
|
UTSW |
6 |
114,108,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8179:Slc6a11
|
UTSW |
6 |
114,222,567 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8411:Slc6a11
|
UTSW |
6 |
114,108,398 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8774:Slc6a11
|
UTSW |
6 |
114,206,995 (GRCm39) |
splice site |
probably benign |
|
|
R8963:Slc6a11
|
UTSW |
6 |
114,202,782 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9032:Slc6a11
|
UTSW |
6 |
114,202,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9056:Slc6a11
|
UTSW |
6 |
114,220,905 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9085:Slc6a11
|
UTSW |
6 |
114,202,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9407:Slc6a11
|
UTSW |
6 |
114,220,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Slc6a11
|
UTSW |
6 |
114,224,603 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCAATGGACCAGGAGCAC -3'
(R):5'- TCTCACGGAAGAGCAGGTAC -3'
Sequencing Primer
(F):5'- TGGACCAGGAGCACGTTGG -3'
(R):5'- GCAGGTACCCGAGTAACAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation