Mutagenetix > Incidental Mutation

Incidental Mutation 'R9358:Slc6a1'

708521

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R9358 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114259735-114294491 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114291271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 515 (S515C)

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: S515C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032454
Gene: ENSMUSG00000030310
AA Change: S515C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000204074
AA Change: S331C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145080
Gene: ENSMUSG00000030310
AA Change: S331C

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	T	3: 121,474,976 (GRCm39)	K149*	probably null	Het
Ap3m2	G	A	8: 23,280,959 (GRCm39)	S365F	possibly damaging	Het
Apob	T	A	12: 8,060,833 (GRCm39)	I3105K	probably benign	Het
Arfgef3	A	G	10: 18,492,628 (GRCm39)	L1261P	probably damaging	Het
Armc8	A	G	9: 99,450,653 (GRCm39)		probably null	Het
Axin2	A	G	11: 108,814,873 (GRCm39)	T254A	probably benign	Het
Cachd1	G	A	4: 100,833,622 (GRCm39)	V800M	probably damaging	Het
Camta1	A	G	4: 151,222,881 (GRCm39)	L892P	probably damaging	Het
Cfap58	C	T	19: 47,962,987 (GRCm39)	R466*	probably null	Het
Cilp	A	G	9: 65,183,269 (GRCm39)	Q391R	probably benign	Het
Cracd	A	T	5: 77,002,836 (GRCm39)	I137F	probably damaging	Het
Ctcfl	T	A	2: 172,960,581 (GRCm39)	M1L	possibly damaging	Het
Dnah14	G	A	1: 181,536,598 (GRCm39)	A2414T	probably benign	Het
Dnah2	A	G	11: 69,406,592 (GRCm39)	L550P	probably damaging	Het
Erich6b	T	A	14: 75,902,668 (GRCm39)	S162T	probably benign	Het
Fbxw7	C	A	3: 84,883,561 (GRCm39)	H578Q		Het
Fer	T	C	17: 64,280,076 (GRCm39)	L418P	possibly damaging	Het
Fndc3b	A	C	3: 27,505,556 (GRCm39)	L904R	possibly damaging	Het
Gabrg1	A	T	5: 70,935,422 (GRCm39)	I249N	possibly damaging	Het
Gbe1	T	A	16: 70,238,127 (GRCm39)	D304E	probably benign	Het
Gm10549	C	T	18: 33,597,375 (GRCm39)	P54S	unknown	Het
Gpatch4	G	T	3: 87,962,452 (GRCm39)	E222*	probably null	Het
Heatr1	A	T	13: 12,433,087 (GRCm39)	T1146S	probably benign	Het
Hrc	A	C	7: 44,985,984 (GRCm39)	E378D	probably benign	Het
Hspg2	G	T	4: 137,244,909 (GRCm39)	R878L	probably damaging	Het
Igkv1-122	A	G	6: 67,993,756 (GRCm39)	M11V	probably benign	Het
Itih3	T	A	14: 30,643,885 (GRCm39)	K75*	probably null	Het
Jag1	A	G	2: 136,924,948 (GRCm39)	V1218A	probably benign	Het
Kif28	C	T	1: 179,563,695 (GRCm39)	D94N	probably benign	Het
Lama2	G	A	10: 27,064,378 (GRCm39)	T1201M	possibly damaging	Het
Lama2	A	G	10: 27,492,761 (GRCm39)	L11P	unknown	Het
Lrfn2	T	C	17: 49,403,530 (GRCm39)	V551A	probably damaging	Het
Lrrc8d	A	G	5: 105,960,358 (GRCm39)	N256S	probably benign	Het
Mindy1	C	T	3: 95,202,590 (GRCm39)	L394F	probably benign	Het
Mon2	A	G	10: 122,868,452 (GRCm39)	S534P	probably benign	Het
Mrps5	T	A	2: 127,437,734 (GRCm39)	I187N	probably benign	Het
Mto1	A	G	9: 78,364,840 (GRCm39)	M360V	probably benign	Het
Muc16	T	G	9: 18,553,520 (GRCm39)	I4258L	probably benign	Het
Myo10	A	G	15: 25,781,520 (GRCm39)	D1005G	possibly damaging	Het
Myo18b	T	A	5: 112,943,269 (GRCm39)	R1645S	possibly damaging	Het
Naip2	A	T	13: 100,298,080 (GRCm39)	V652D	probably damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Ncapd2	A	T	6: 125,163,106 (GRCm39)	M134K	probably benign	Het
Nup107	A	G	10: 117,586,868 (GRCm39)	F893S	probably damaging	Het
Or10j3	A	T	1: 173,031,741 (GRCm39)	R273W	probably damaging	Het
Or11h23	A	G	14: 50,947,802 (GRCm39)	E5G	probably benign	Het
Or1e35	A	T	11: 73,797,451 (GRCm39)	I289N	probably damaging	Het
Or4f14b	A	G	2: 111,775,429 (GRCm39)	V124A	probably benign	Het
Or5p64	C	T	7: 107,854,799 (GRCm39)	C182Y	probably damaging	Het
Pcgf1	G	T	6: 83,056,433 (GRCm39)	R124L	probably benign	Het
Pdcd10	A	T	3: 75,448,533 (GRCm39)	N10K	probably damaging	Het
Pdx1	C	T	5: 147,207,064 (GRCm39)	Q6*	probably null	Het
Plcl1	T	C	1: 55,735,810 (GRCm39)	S384P	probably damaging	Het
Serpina1b	T	A	12: 103,694,653 (GRCm39)	T364S	possibly damaging	Het
Slc5a11	C	T	7: 122,857,775 (GRCm39)	T288I	probably damaging	Het
Snca	A	T	6: 60,710,121 (GRCm39)	D119E	probably benign	Het
Sorcs2	T	C	5: 36,200,814 (GRCm39)	D578G	probably damaging	Het
Sulf1	T	A	1: 12,890,729 (GRCm39)	L389Q	probably damaging	Het
Thoc2l	T	C	5: 104,667,826 (GRCm39)	F783L	possibly damaging	Het
Tln1	A	C	4: 43,532,084 (GRCm39)	I2501S	possibly damaging	Het
Tmem191	A	G	16: 17,094,257 (GRCm39)	E27G	probably damaging	Het
Tmem200a	G	T	10: 25,869,677 (GRCm39)	N197K	probably benign	Het
Tmem207	A	T	16: 26,345,434 (GRCm39)	S11T	probably benign	Het
Ttn	T	C	2: 76,564,953 (GRCm39)	T28425A	probably damaging	Het
Ush2a	C	T	1: 188,607,147 (GRCm39)	T4014M	probably benign	Het
Vac14	G	A	8: 111,439,379 (GRCm39)		probably null	Het
Vmn2r32	A	T	7: 7,477,197 (GRCm39)	I398K	probably damaging	Het
Vmn2r77	A	T	7: 86,452,236 (GRCm39)	H472L	probably benign	Het
Vps45	C	T	3: 95,940,976 (GRCm39)		probably null	Het
Wdr26	T	C	1: 181,019,423 (GRCm39)	H334R	probably damaging	Het
Zfp268	A	T	4: 145,349,613 (GRCm39)	Y350F	possibly damaging	Het
Zmynd10	A	G	9: 107,426,249 (GRCm39)	D132G	possibly damaging	Het
Zpbp2	A	G	11: 98,444,774 (GRCm39)	T123A	probably benign	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
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
R9366:Slc6a1	UTSW	6	114,280,974 (GRCm39)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- TCTCTGGGCCTTTTCTAGAAAG -3'
(R):5'- GTCACTCTAAATGGCACTGGC -3'

Sequencing Primer
(F):5'- CCTTTTCTAGAAAGAGGAGTCTGC -3'
(R):5'- CTAAATGGCACTGGCTTGCTGAC -3'

Posted On

2022-04-18