Mutagenetix > Incidental Mutation

Incidental Mutation 'R0239:Slc6a1'

59218

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

038477-MU

Accession Numbers

Essential gene?

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

Stock #

R0239 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114259735-114294491 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 114279761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 142 (V142I)

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: V142I

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000032454
Gene: ENSMUSG00000030310
AA Change: V142I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203100

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203330

Predicted Effect

probably benign
Transcript: ENSMUST00000204074

SMART Domains

Protein: ENSMUSP00000145080
Gene: ENSMUSG00000030310

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: ENSMUST00000204600

Meta Mutation Damage Score

0.1419

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

Validation Efficiency

98% (81/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	C	A	2: 131,388,134 (GRCm39)	V474F	probably benign	Het
Alg8	A	T	7: 97,032,891 (GRCm39)		probably null	Het
Ash1l	A	G	3: 88,974,529 (GRCm39)	D2618G	possibly damaging	Het
Atp6v1c2	C	A	12: 17,344,676 (GRCm39)		probably null	Het
Cacna1d	A	G	14: 29,845,453 (GRCm39)	V572A	probably benign	Het
Camta1	A	G	4: 151,228,187 (GRCm39)	W882R	probably damaging	Het
Cd72	A	G	4: 43,453,163 (GRCm39)	V91A	probably benign	Het
Cdh12	T	C	15: 21,586,493 (GRCm39)	W771R	probably damaging	Het
Cdx2	G	T	5: 147,240,097 (GRCm39)	T193K	probably damaging	Het
Cfap70	A	C	14: 20,498,673 (GRCm39)	S5A	probably benign	Het
Chmp7	A	G	14: 69,958,446 (GRCm39)	V241A	probably damaging	Het
Col4a1	C	T	8: 11,268,780 (GRCm39)		probably benign	Het
D3Ertd751e	A	G	3: 41,708,313 (GRCm39)	Y150C	probably damaging	Het
Depdc5	T	C	5: 33,100,584 (GRCm39)	S832P	probably damaging	Het
Dnhd1	A	G	7: 105,370,738 (GRCm39)	S4673G	probably benign	Het
Dock4	G	T	12: 40,787,539 (GRCm39)	S818I	probably damaging	Het
Dysf	C	T	6: 84,041,461 (GRCm39)	Q156*	probably null	Het
Elp1	C	A	4: 56,784,596 (GRCm39)	V466L	probably benign	Het
Espnl	T	C	1: 91,250,009 (GRCm39)	V52A	probably damaging	Het
Flcn	T	C	11: 59,691,902 (GRCm39)	N249S	probably benign	Het
Gemin6	C	A	17: 80,533,139 (GRCm39)	A24D	probably damaging	Het
Gm5773	A	G	3: 93,681,339 (GRCm39)	H337R	probably benign	Het
Greb1l	C	T	18: 10,458,567 (GRCm39)		probably benign	Het
Hal	T	C	10: 93,339,344 (GRCm39)	S478P	possibly damaging	Het
Hectd1	T	A	12: 51,816,101 (GRCm39)	M1324L	possibly damaging	Het
Hyal5	T	A	6: 24,876,343 (GRCm39)	L72Q	probably damaging	Het
Ift140	C	A	17: 25,264,497 (GRCm39)	C557*	probably null	Het
Il4ra	T	C	7: 125,174,371 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,332,074 (GRCm39)		probably benign	Het
Irag2	G	A	6: 145,117,704 (GRCm39)		probably benign	Het
Kbtbd3	G	T	9: 4,330,144 (GRCm39)	V173L	possibly damaging	Het
Kif14	A	G	1: 136,455,131 (GRCm39)	E1551G	probably damaging	Het
Klc1	A	G	12: 111,751,758 (GRCm39)		probably benign	Het
Krt17	G	A	11: 100,151,704 (GRCm39)	R30*	probably null	Het
Lamb3	A	T	1: 193,003,361 (GRCm39)	D100V	probably damaging	Het
Map2	A	G	1: 66,455,265 (GRCm39)	D1385G	probably damaging	Het
Mettl25	C	T	10: 105,662,386 (GRCm39)	V195I	probably damaging	Het
Micu2	G	A	14: 58,154,835 (GRCm39)		probably benign	Het
Mrrf	T	C	2: 36,067,293 (GRCm39)		probably benign	Het
Myh8	A	G	11: 67,192,518 (GRCm39)	T1466A	probably benign	Het
Myo3b	T	A	2: 69,935,769 (GRCm39)	C61S	probably benign	Het
Nacc2	T	G	2: 25,952,273 (GRCm39)	N361T	probably damaging	Het
Nf1	A	T	11: 79,309,400 (GRCm39)	K438M	possibly damaging	Het
Nipal4	A	G	11: 46,041,268 (GRCm39)	V309A	possibly damaging	Het
Nomo1	T	C	7: 45,729,018 (GRCm39)		probably null	Het
Nubp2	T	C	17: 25,103,445 (GRCm39)	E144G	probably damaging	Het
Nwd2	A	T	5: 63,957,467 (GRCm39)	I266F	probably benign	Het
Or12e7	T	C	2: 87,288,381 (GRCm39)	F291L	probably benign	Het
Or2ag1b	A	G	7: 106,288,462 (GRCm39)	Y159H	probably benign	Het
Or52s1	G	A	7: 102,861,933 (GRCm39)	V289M	possibly damaging	Het
Orc1	T	C	4: 108,452,843 (GRCm39)		probably null	Het
Otogl	T	A	10: 107,642,557 (GRCm39)	N1291I	probably damaging	Het
Pah	C	T	10: 87,403,143 (GRCm39)	P173S	possibly damaging	Het
Pga5	A	G	19: 10,646,817 (GRCm39)	Y305H	probably damaging	Het
Plekha4	A	G	7: 45,181,782 (GRCm39)	H62R	probably damaging	Het
Plxnd1	G	T	6: 115,945,754 (GRCm39)	D906E	probably benign	Het
Ppfia4	T	C	1: 134,256,927 (GRCm39)	E98G	possibly damaging	Het
Ptk2	A	T	15: 73,215,132 (GRCm39)		probably null	Het
Pzp	C	T	6: 128,466,119 (GRCm39)		probably benign	Het
Raet1c	C	A	10: 22,056,761 (GRCm39)	H112Q	possibly damaging	Het
Scai	T	A	2: 38,965,054 (GRCm39)	I597F	probably benign	Het
Scgb1b2	T	A	7: 30,991,155 (GRCm39)		probably benign	Het
Sec31b	G	A	19: 44,513,908 (GRCm39)		probably benign	Het
Sirpd	A	G	3: 15,361,661 (GRCm39)	L163P	probably damaging	Het
Slc35c2	C	T	2: 165,122,757 (GRCm39)	G176S	probably damaging	Het
Slc35f4	A	T	14: 49,541,713 (GRCm39)	I347N	possibly damaging	Het
Slc49a3	G	T	5: 108,591,882 (GRCm39)		probably benign	Het
Slc52a3	T	C	2: 151,850,076 (GRCm39)	*461Q	probably null	Het
Tbc1d31	C	A	15: 57,804,149 (GRCm39)	T388N	probably benign	Het
Tmem131	T	C	1: 36,867,131 (GRCm39)		probably benign	Het
Tmem63c	T	C	12: 87,122,413 (GRCm39)	W404R	probably damaging	Het
Tmem79	A	G	3: 88,240,628 (GRCm39)	S107P	probably benign	Het
Trip11	C	T	12: 101,850,987 (GRCm39)	E741K	probably damaging	Het
Trpm5	G	T	7: 142,636,695 (GRCm39)	T414N	probably damaging	Het
Tsnaxip1	T	A	8: 106,571,120 (GRCm39)	I660N	possibly damaging	Het
Ube2q2	T	C	9: 55,070,291 (GRCm39)	S78P	probably damaging	Het
Vac14	A	T	8: 111,362,007 (GRCm39)		probably null	Het
Vps51	G	T	19: 6,121,467 (GRCm39)	S185*	probably null	Het
Zfp11	C	T	5: 129,735,302 (GRCm39)	G53E	possibly damaging	Het
Zfp532	A	T	18: 65,816,056 (GRCm39)	I810F	possibly damaging	Het
Zfp599	C	T	9: 22,161,055 (GRCm39)	C370Y	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
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'- CGCCCATGTTCAAGGGTGAGTAAG -3'
(R):5'- TCTGTGGAAACAGAATTGCTGGGTC -3'

Sequencing Primer
(F):5'- TAAGGGACCTGGGCATATGG -3'
(R):5'- tgatagacagtagagttagcattcc -3'

Posted On

2013-07-11