Mutagenetix > Incidental Mutation

Incidental Mutation 'R2207:Slc6a1'

239127

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

MMRRC Submission

040209-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R2207 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114259735-114294491 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 114285632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 356 (V356E)

Ref Sequence

ENSEMBL: ENSMUSP00000032454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032454] [ENSMUST00000204074]

AlphaFold

P31648

Predicted Effect

probably damaging
Transcript: ENSMUST00000032454
AA Change: V356E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000032454
Gene: ENSMUSG00000030310
AA Change: V356E

Domain	Start	End	E-Value	Type
Pfam:SNF	44	559	6.1e-235	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000204074
AA Change: V172E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145080
Gene: ENSMUSG00000030310
AA Change: V172E

Domain	Start	End	E-Value	Type
Pfam:SNF	1	375	1.2e-162	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204278

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204540

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204600

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.9%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	A	G	17: 37,288,965 (GRCm39)		probably benign	Het
Abcb1b	C	T	5: 8,874,803 (GRCm39)	R488C	probably benign	Het
Adam34	T	C	8: 44,105,274 (GRCm39)	I124V	probably benign	Het
Aicda	T	A	6: 122,538,244 (GRCm39)	V134D	possibly damaging	Het
Akt2	T	A	7: 27,336,625 (GRCm39)		probably null	Het
Aldh1a3	T	C	7: 66,055,769 (GRCm39)	R341G	probably damaging	Het
Ankrd12	G	T	17: 66,338,569 (GRCm39)		probably null	Het
Anxa11	A	G	14: 25,874,721 (GRCm39)	Y244C	probably damaging	Het
Atp2c2	G	A	8: 120,475,048 (GRCm39)	R551Q	probably damaging	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Bcl11a	G	T	11: 24,113,343 (GRCm39)	G229W	probably damaging	Het
Brip1	A	G	11: 85,952,703 (GRCm39)	V1026A	probably benign	Het
Cacna1h	A	T	17: 25,603,987 (GRCm39)	S1282T	probably benign	Het
Calcr	T	C	6: 3,717,133 (GRCm39)	Y109C	probably damaging	Het
Ccdc39	T	C	3: 33,890,882 (GRCm39)	I241V	probably damaging	Het
Ccdc9	A	G	7: 16,018,194 (GRCm39)		probably benign	Het
Cdk17	G	A	10: 93,064,624 (GRCm39)	D298N	probably damaging	Het
Cdkl3	A	G	11: 51,918,020 (GRCm39)	*354W	probably null	Het
Celf6	A	T	9: 59,511,610 (GRCm39)	Y401F	possibly damaging	Het
Clec4a4	C	T	6: 122,990,766 (GRCm39)	L169F	probably damaging	Het
Col14a1	T	C	15: 55,327,082 (GRCm39)	F1411L	unknown	Het
Col4a2	G	T	8: 11,493,352 (GRCm39)	G1354W	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Cst13	A	T	2: 148,665,202 (GRCm39)	R66W	probably damaging	Het
Depp1	G	A	6: 116,628,683 (GRCm39)	V9M	possibly damaging	Het
Dhx8	A	G	11: 101,641,797 (GRCm39)	T632A	probably benign	Het
Disp1	A	G	1: 182,869,906 (GRCm39)	F838S	possibly damaging	Het
Dlg1	A	G	16: 31,672,664 (GRCm39)	H599R	probably benign	Het
Dnah12	T	A	14: 26,503,744 (GRCm39)	V1654E	probably damaging	Het
Dnah5	C	T	15: 28,343,817 (GRCm39)	L2406F	probably benign	Het
Fam98b	C	G	2: 117,098,300 (GRCm39)	R257G	probably damaging	Het
Fbn2	A	T	18: 58,214,471 (GRCm39)	C900*	probably null	Het
Fgf1	A	G	18: 38,980,138 (GRCm39)	Y79H	possibly damaging	Het
Foxn1	C	A	11: 78,249,630 (GRCm39)	A632S	probably benign	Het
Fsip2	T	G	2: 82,807,823 (GRCm39)	S1381A	probably benign	Het
Gtf2b	G	A	3: 142,484,081 (GRCm39)	G85D	probably benign	Het
Gyg1	C	A	3: 20,204,703 (GRCm39)	G161C	probably damaging	Het
Hemgn	G	T	4: 46,396,301 (GRCm39)	L312I	possibly damaging	Het
Hic2	T	C	16: 17,075,324 (GRCm39)	M51T	possibly damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hpx	C	T	7: 105,241,633 (GRCm39)	R287H	probably damaging	Het
Igf2bp3	C	T	6: 49,065,488 (GRCm39)	G468E	possibly damaging	Het
Il5ra	C	A	6: 106,689,402 (GRCm39)	E397*	probably null	Het
Itfg1	A	T	8: 86,502,827 (GRCm39)	S246R	probably benign	Het
Kdm2a	A	T	19: 4,412,898 (GRCm39)	D29E	probably damaging	Het
Lamc2	T	G	1: 153,009,452 (GRCm39)	E784D	possibly damaging	Het
Lrp2	A	T	2: 69,297,372 (GRCm39)	N3196K	possibly damaging	Het
Lyzl1	T	A	18: 4,181,962 (GRCm39)	C96*	probably null	Het
Maf1	A	G	15: 76,236,718 (GRCm39)	T17A	probably benign	Het
Map1b	T	C	13: 99,567,591 (GRCm39)	D1710G	unknown	Het
Megf8	C	T	7: 25,049,222 (GRCm39)	T1773I	probably damaging	Het
Mei1	T	C	15: 81,987,450 (GRCm39)	M414T	probably benign	Het
Myo15a	A	G	11: 60,396,860 (GRCm39)	N2643S	probably benign	Het
Ndufa9	A	G	6: 126,821,772 (GRCm39)	Y64H	probably damaging	Het
Neb	A	T	2: 52,101,579 (GRCm39)	L4354*	probably null	Het
Nom1	T	A	5: 29,644,972 (GRCm39)	I480N	probably damaging	Het
Nrxn3	C	T	12: 89,315,082 (GRCm39)	T331M	probably damaging	Het
Or1a1	G	T	11: 74,087,150 (GRCm39)	V274L	possibly damaging	Het
Or1j16	G	T	2: 36,530,201 (GRCm39)	R50M	possibly damaging	Het
Or4f14b	A	C	2: 111,775,270 (GRCm39)	F177C	probably damaging	Het
Or51a42	A	G	7: 103,708,612 (GRCm39)	S66P	probably damaging	Het
Pcdhb15	A	T	18: 37,608,075 (GRCm39)	T436S	probably benign	Het
Pcdhb18	T	A	18: 37,624,342 (GRCm39)	N557K	probably damaging	Het
Pcdhb6	T	C	18: 37,468,633 (GRCm39)	M518T	probably benign	Het
Pgm2l1	T	A	7: 99,917,319 (GRCm39)		probably null	Het
Pih1d2	C	A	9: 50,532,379 (GRCm39)	H162N	probably benign	Het
Pitrm1	T	A	13: 6,619,327 (GRCm39)	Y721N	probably damaging	Het
Pla2r1	C	A	2: 60,288,779 (GRCm39)	V618F	probably damaging	Het
Plb1	T	C	5: 32,473,984 (GRCm39)	S599P	possibly damaging	Het
Prkg1	T	C	19: 30,556,260 (GRCm39)	D562G	probably damaging	Het
Proser1	T	G	3: 53,385,812 (GRCm39)	S565A	probably benign	Het
Prx	T	A	7: 27,216,213 (GRCm39)	V238E	probably damaging	Het
Psapl1	T	C	5: 36,362,509 (GRCm39)	I367T	probably damaging	Het
Rc3h1	T	C	1: 160,767,595 (GRCm39)	V128A	probably damaging	Het
Rrm1	T	A	7: 102,091,233 (GRCm39)	M1K	probably null	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rsl1	A	G	13: 67,330,892 (GRCm39)	T447A	probably benign	Het
Ryr2	A	G	13: 11,825,823 (GRCm39)	S552P	probably damaging	Het
Sbf1	A	G	15: 89,190,896 (GRCm39)	S225P	possibly damaging	Het
Serpina3c	T	A	12: 104,117,757 (GRCm39)	I194F	probably benign	Het
Setd3	C	T	12: 108,073,544 (GRCm39)	V578M	probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slfn1	A	G	11: 83,011,992 (GRCm39)	E36G	possibly damaging	Het
Sorcs1	T	C	19: 50,218,655 (GRCm39)	H609R	possibly damaging	Het
Spag16	A	G	1: 70,764,043 (GRCm39)	H621R	probably benign	Het
Spata31d1e	A	G	13: 59,890,920 (GRCm39)	V300A	probably benign	Het
Tg	G	A	15: 66,553,788 (GRCm39)	G401D	probably benign	Het
Tnxb	A	C	17: 34,928,391 (GRCm39)	T2602P	possibly damaging	Het
Trip11	T	C	12: 101,839,701 (GRCm39)	N1643S	probably benign	Het
Ttn	G	A	2: 76,709,687 (GRCm39)	R1581*	probably null	Het
Ttn	A	T	2: 76,796,155 (GRCm39)	I590K	probably benign	Het
Vmn1r225	A	G	17: 20,722,611 (GRCm39)	I17M	possibly damaging	Het
Vmn1r232	A	G	17: 21,134,465 (GRCm39)	L45P	probably benign	Het
Wdr7	T	A	18: 63,910,678 (GRCm39)	V690E	possibly damaging	Het
Xaf1	A	T	11: 72,194,228 (GRCm39)	E36D	possibly damaging	Het
Zfp131	A	T	13: 120,237,348 (GRCm39)	F303I	probably damaging	Het
Zfp513	T	G	5: 31,357,767 (GRCm39)	K202T	probably damaging	Het
Zfp788	A	T	7: 41,299,064 (GRCm39)	I567F	probably damaging	Het
Zfyve26	A	G	12: 79,292,861 (GRCm39)	V2096A	probably 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
BB008:Slc6a1	UTSW	6	114,288,863 (GRCm39)	missense	probably benign	0.00
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
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'- TCCCTCAGAGGTTATTGCCC -3'
(R):5'- GGATCTTCCTGACTTTGGCAC -3'

Sequencing Primer
(F):5'- GAGGTTATTGCCCTCTGGTCC -3'
(R):5'- CTTTGGCACTGTCCATGGGAAC -3'

Posted On

2014-10-02