Incidental Mutation 'BB008:Slc6a1'
| ID |
642467 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc6a1
|
| Ensembl Gene |
ENSMUSG00000030310 |
| Gene Name |
solute carrier family 6 (neurotransmitter transporter, GABA), member 1 |
| Synonyms |
Gabt, Gat1, GAT-1, XT-1, Gabt1, Xtrp1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
BB008
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
114259735-114294491 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114288863 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 474
(F474S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032454]
[ENSMUST00000204074]
|
| AlphaFold |
P31648 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032454
AA Change: F474S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000032454
Gene: ENSMUSG00000030310
AA Change: F474S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
44 |
559 |
6.1e-235 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204074
AA Change: F290S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000145080
Gene: ENSMUSG00000030310
AA Change: F290S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
1 |
375 |
1.2e-162 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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 gamma-aminobutyric acid (GABA) transporter that localizes to the plasma membrane. The encoded protein removes GABA from the synaptic cleft, restoring it to presynaptic terminals. [provided by RefSeq, Jan 2017]
PHENOTYPE: Homozygous hypomorphic mice display abnormal inhibitory postsynaptic currents, and abnormal GABA uptake and release. Null mice show hyperactivity and various behavioral abnormalities, as well as an aversion to bitter taste. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp2 |
A |
T |
2: 91,037,060 (GRCm39) |
|
probably null |
Het |
| Aire |
G |
A |
10: 77,866,130 (GRCm39) |
A536V |
probably damaging |
Het |
| Aox4 |
A |
G |
1: 58,294,645 (GRCm39) |
I951M |
probably benign |
Het |
| Ash1l |
G |
T |
3: 88,950,848 (GRCm39) |
C2190F |
probably damaging |
Het |
| C1s1 |
C |
T |
6: 124,510,359 (GRCm39) |
V363M |
probably damaging |
Het |
| Diaph3 |
A |
T |
14: 87,352,456 (GRCm39) |
D48E |
possibly damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,095,763 (GRCm39) |
V559A |
probably benign |
Het |
| Dzank1 |
T |
C |
2: 144,323,614 (GRCm39) |
I610V |
probably benign |
Het |
| F7 |
A |
G |
8: 13,085,209 (GRCm39) |
I412V |
probably benign |
Het |
| Flt1 |
A |
G |
5: 147,525,382 (GRCm39) |
S919P |
probably damaging |
Het |
| Igkv4-70 |
C |
A |
6: 69,244,975 (GRCm39) |
R82L |
probably damaging |
Het |
| Lnp1 |
T |
A |
16: 56,748,281 (GRCm39) |
R4* |
probably null |
Het |
| Lrrc3b |
T |
C |
14: 15,358,018 (GRCm38) |
N196S |
probably benign |
Het |
| Mlxip |
A |
G |
5: 123,588,558 (GRCm39) |
D816G |
probably damaging |
Het |
| Myh7 |
C |
T |
14: 55,221,119 (GRCm39) |
E935K |
possibly damaging |
Het |
| Myom3 |
A |
T |
4: 135,516,947 (GRCm39) |
H839L |
probably benign |
Het |
| Nebl |
C |
T |
2: 17,381,433 (GRCm39) |
|
probably null |
Het |
| Ninj1 |
T |
C |
13: 49,347,432 (GRCm39) |
I99T |
probably damaging |
Het |
| Or11g1 |
A |
C |
14: 50,651,786 (GRCm39) |
M262L |
probably damaging |
Het |
| Or2l5 |
A |
G |
16: 19,334,258 (GRCm39) |
S43P |
possibly damaging |
Het |
| Or4a76 |
T |
A |
2: 89,460,448 (GRCm39) |
I265F |
possibly damaging |
Het |
| Or8g55 |
A |
T |
9: 39,785,146 (GRCm39) |
T192S |
possibly damaging |
Het |
| Otop1 |
A |
G |
5: 38,445,364 (GRCm39) |
H174R |
probably damaging |
Het |
| Pcdhb16 |
A |
G |
18: 37,611,510 (GRCm39) |
N157D |
possibly damaging |
Het |
| Prss44 |
A |
C |
9: 110,643,746 (GRCm39) |
Q130P |
probably damaging |
Het |
| Ptpn4 |
T |
A |
1: 119,607,925 (GRCm39) |
M712L |
probably damaging |
Het |
| Ptprh |
C |
A |
7: 4,574,987 (GRCm39) |
S344I |
probably benign |
Het |
| Rps6kl1 |
T |
C |
12: 85,196,566 (GRCm39) |
I33V |
possibly damaging |
Het |
| Scn1a |
T |
C |
2: 66,148,156 (GRCm39) |
S110G |
probably damaging |
Het |
| Sdk2 |
C |
A |
11: 113,784,267 (GRCm39) |
K157N |
possibly damaging |
Het |
| Serpina1d |
A |
T |
12: 103,733,815 (GRCm39) |
V163D |
probably damaging |
Het |
| Serpina3g |
T |
C |
12: 104,205,428 (GRCm39) |
S56P |
probably benign |
Het |
| Slc4a4 |
T |
C |
5: 89,318,640 (GRCm39) |
L636P |
probably benign |
Het |
| Slco6d1 |
A |
G |
1: 98,356,141 (GRCm39) |
D235G |
probably damaging |
Het |
| Srgn |
A |
T |
10: 62,330,763 (GRCm39) |
M114K |
possibly damaging |
Het |
| Syne3 |
A |
T |
12: 104,929,491 (GRCm39) |
V243E |
probably damaging |
Het |
| Tcf19 |
A |
G |
17: 35,825,804 (GRCm39) |
F118L |
probably damaging |
Het |
| Tln2 |
A |
T |
9: 67,165,742 (GRCm39) |
|
probably null |
Het |
| Tnxb |
A |
G |
17: 34,907,672 (GRCm39) |
T1239A |
probably damaging |
Het |
| Traip |
A |
G |
9: 107,848,241 (GRCm39) |
I453M |
probably benign |
Het |
| Vmn1r157 |
C |
T |
7: 22,461,210 (GRCm39) |
A30V |
probably damaging |
Het |
| Vmn1r233 |
G |
A |
17: 21,214,125 (GRCm39) |
A275V |
probably benign |
Het |
| Vps13d |
G |
A |
4: 144,822,854 (GRCm39) |
R2976* |
probably null |
Het |
| Wdr75 |
T |
C |
1: 45,858,795 (GRCm39) |
F655L |
probably benign |
Het |
| Wwp1 |
A |
G |
4: 19,650,114 (GRCm39) |
|
probably null |
Het |
| Zc3h4 |
T |
C |
7: 16,166,909 (GRCm39) |
L747P |
unknown |
Het |
| Zfp268 |
G |
A |
4: 145,349,126 (GRCm39) |
D188N |
possibly damaging |
Het |
|
| Other mutations in Slc6a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01155:Slc6a1
|
APN |
6 |
114,291,426 (GRCm39) |
splice site |
probably null |
|
|
IGL01604:Slc6a1
|
APN |
6 |
114,291,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02004:Slc6a1
|
APN |
6 |
114,291,286 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02437:Slc6a1
|
APN |
6 |
114,285,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02553:Slc6a1
|
APN |
6 |
114,279,451 (GRCm39) |
intron |
probably benign |
|
|
lewis
|
UTSW |
6 |
114,284,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
phytotoxin
|
UTSW |
6 |
114,288,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
sponges
|
UTSW |
6 |
114,279,761 (GRCm39) |
missense |
probably benign |
0.13 |
|
BB010:Slc6a1
|
UTSW |
6 |
114,288,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB018:Slc6a1
|
UTSW |
6 |
114,288,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB020:Slc6a1
|
UTSW |
6 |
114,288,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0178:Slc6a1
|
UTSW |
6 |
114,281,813 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0238:Slc6a1
|
UTSW |
6 |
114,279,761 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0238:Slc6a1
|
UTSW |
6 |
114,279,761 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0239:Slc6a1
|
UTSW |
6 |
114,279,761 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0239:Slc6a1
|
UTSW |
6 |
114,279,761 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0408:Slc6a1
|
UTSW |
6 |
114,279,761 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1165:Slc6a1
|
UTSW |
6 |
114,288,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1451:Slc6a1
|
UTSW |
6 |
114,284,756 (GRCm39) |
nonsense |
probably null |
|
|
R1535:Slc6a1
|
UTSW |
6 |
114,284,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1568:Slc6a1
|
UTSW |
6 |
114,284,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1900:Slc6a1
|
UTSW |
6 |
114,288,815 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2011:Slc6a1
|
UTSW |
6 |
114,284,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2134:Slc6a1
|
UTSW |
6 |
114,278,977 (GRCm39) |
missense |
probably benign |
|
|
R2139:Slc6a1
|
UTSW |
6 |
114,281,022 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2152:Slc6a1
|
UTSW |
6 |
114,284,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2154:Slc6a1
|
UTSW |
6 |
114,284,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2207:Slc6a1
|
UTSW |
6 |
114,285,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4627:Slc6a1
|
UTSW |
6 |
114,285,067 (GRCm39) |
missense |
probably benign |
|
|
R4690:Slc6a1
|
UTSW |
6 |
114,279,792 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4706:Slc6a1
|
UTSW |
6 |
114,284,713 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4886:Slc6a1
|
UTSW |
6 |
114,279,494 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4974:Slc6a1
|
UTSW |
6 |
114,284,662 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5219:Slc6a1
|
UTSW |
6 |
114,287,182 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5354:Slc6a1
|
UTSW |
6 |
114,279,584 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5361:Slc6a1
|
UTSW |
6 |
114,279,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6448:Slc6a1
|
UTSW |
6 |
114,279,047 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6678:Slc6a1
|
UTSW |
6 |
114,284,737 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6941:Slc6a1
|
UTSW |
6 |
114,290,473 (GRCm39) |
nonsense |
probably null |
|
|
R7347:Slc6a1
|
UTSW |
6 |
114,288,779 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7811:Slc6a1
|
UTSW |
6 |
114,279,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7931:Slc6a1
|
UTSW |
6 |
114,288,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7933:Slc6a1
|
UTSW |
6 |
114,288,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9143:Slc6a1
|
UTSW |
6 |
114,292,503 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9256:Slc6a1
|
UTSW |
6 |
114,287,554 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9358:Slc6a1
|
UTSW |
6 |
114,291,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9366:Slc6a1
|
UTSW |
6 |
114,280,974 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTCACTGTGCCCTGAAGC -3'
(R):5'- AATGAACATCTATGACTCTCCCTG -3'
Sequencing Primer
(F):5'- GCTATGTGTCTAGTGCCAGCC -3'
(R):5'- TGTCACACTTCCTCGACAGGG -3'
|
| Posted On |
2020-08-01 |
Incidental Mutation