Mutagenetix > Incidental Mutation

Incidental Mutation 'R7347:Slc6a1'

570277

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

045374-MU

Accession Numbers

Essential gene?

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

Stock #

R7347 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114259735-114294491 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114288779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 446 (V446A)

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: V446A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032454
Gene: ENSMUSG00000030310
AA Change: V446A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000204074
AA Change: V262A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145080
Gene: ENSMUSG00000030310
AA Change: V262A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (80/80)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930564D02Rik	G	T	3: 104,985,728 (GRCm39)	R47S	unknown	Het
Abtb2	T	G	2: 103,397,757 (GRCm39)	I229S	probably damaging	Het
Adgre1	T	C	17: 57,727,441 (GRCm39)	L457P	probably damaging	Het
Amer3	C	A	1: 34,626,983 (GRCm39)	D407E	probably damaging	Het
Arhgap20	T	C	9: 51,760,335 (GRCm39)	S729P	probably benign	Het
Asap2	T	G	12: 21,279,458 (GRCm39)	I418S	probably benign	Het
Atp5mf	T	C	5: 145,125,295 (GRCm39)		probably null	Het
Brinp3	T	A	1: 146,777,824 (GRCm39)	V757E	probably benign	Het
Brip1	C	T	11: 86,029,929 (GRCm39)	G572R	probably benign	Het
C3	C	A	17: 57,530,215 (GRCm39)	R462L	probably benign	Het
Cat	T	A	2: 103,293,643 (GRCm39)	H395L	probably benign	Het
Ccdc168	G	T	1: 44,098,656 (GRCm39)	P814Q	probably damaging	Het
Cela3a	T	C	4: 137,129,917 (GRCm39)	N235D	possibly damaging	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cntnap1	G	T	11: 101,076,094 (GRCm39)	G993W	probably damaging	Het
Col9a1	A	G	1: 24,218,484 (GRCm39)		probably null	Het
Coro2b	G	T	9: 62,396,654 (GRCm39)	H29N	probably benign	Het
Dll3	C	T	7: 27,998,536 (GRCm39)	R143H	probably damaging	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Dync1i1	T	A	6: 5,784,530 (GRCm39)	*114R	probably null	Het
Ecm2	T	C	13: 49,668,554 (GRCm39)	S86P	probably damaging	Het
Eif5	T	C	12: 111,506,724 (GRCm39)		probably benign	Het
Ets1	T	A	9: 32,644,328 (GRCm39)		probably null	Het
Exph5	A	G	9: 53,287,196 (GRCm39)	N1426D	possibly damaging	Het
Eya2	T	C	2: 165,529,586 (GRCm39)	F110L	probably benign	Het
Flt1	T	A	5: 147,517,191 (GRCm39)	E1032V	probably damaging	Het
Galnt5	A	T	2: 57,907,205 (GRCm39)	H556L	probably benign	Het
Glb1l3	A	T	9: 26,740,299 (GRCm39)	Y344N	probably benign	Het
Glrx3	C	A	7: 137,061,015 (GRCm39)	D216E	possibly damaging	Het
Gm45871	T	A	18: 90,609,499 (GRCm39)	C246S	probably damaging	Het
Gstm4	A	G	3: 107,949,689 (GRCm39)	L137P	probably benign	Het
Hsd17b13	T	C	5: 104,116,616 (GRCm39)	T169A	probably damaging	Het
Hydin	A	C	8: 111,326,994 (GRCm39)	T4778P	probably benign	Het
Ifna15	A	G	4: 88,476,220 (GRCm39)	L88P	probably damaging	Het
Inhca	T	A	9: 103,159,845 (GRCm39)	E22V	possibly damaging	Het
Kcnab1	G	A	3: 65,283,952 (GRCm39)	R390H	probably benign	Het
Kng1	C	A	16: 22,886,537 (GRCm39)	H161N	possibly damaging	Het
Lamp5	T	C	2: 135,902,878 (GRCm39)	V199A	probably benign	Het
Lrig3	G	A	10: 125,845,835 (GRCm39)	V755M	probably damaging	Het
Mad1l1	C	T	5: 140,129,799 (GRCm39)	R412H	probably damaging	Het
Marchf6	C	A	15: 31,486,505 (GRCm39)	C350F	probably benign	Het
Mastl	A	G	2: 23,023,401 (GRCm39)	S441P	probably damaging	Het
Mfsd13b	A	T	7: 120,590,951 (GRCm39)	M231L	probably benign	Het
Mical2	T	C	7: 111,981,358 (GRCm39)	V444A	probably benign	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myo15a	A	G	11: 60,368,787 (GRCm39)	M516V	probably benign	Het
Myo1b	A	T	1: 51,790,413 (GRCm39)	F1110L	probably damaging	Het
Nbr1	T	A	11: 101,460,147 (GRCm39)	L381*	probably null	Het
Nln	T	C	13: 104,187,355 (GRCm39)	K325E	probably damaging	Het
Nr4a3	T	G	4: 48,051,290 (GRCm39)	S15A	possibly damaging	Het
Nrp2	C	T	1: 62,784,663 (GRCm39)	P271S	probably benign	Het
Obox6	A	C	7: 15,568,571 (GRCm39)	L102V	possibly damaging	Het
Or4a69	T	C	2: 89,312,799 (GRCm39)	S227G	probably benign	Het
Or4p8	T	C	2: 88,727,615 (GRCm39)	I109V	possibly damaging	Het
Or7g33	A	G	9: 19,448,395 (GRCm39)	M277T	probably damaging	Het
Or8k16	T	C	2: 85,520,181 (GRCm39)	M136T	probably damaging	Het
Pde10a	A	G	17: 9,186,294 (GRCm39)	H567R	probably damaging	Het
Pdgfra	C	T	5: 75,343,759 (GRCm39)	S760L	possibly damaging	Het
Pid1	T	A	1: 84,136,850 (GRCm39)	I94L	unknown	Het
Plekhn1	T	C	4: 156,307,128 (GRCm39)	H474R	probably benign	Het
Prcc	A	T	3: 87,776,988 (GRCm39)	S329T	possibly damaging	Het
Pros1	G	T	16: 62,739,886 (GRCm39)	R445L	probably damaging	Het
Pxdn	C	A	12: 30,062,260 (GRCm39)	H1370Q	probably benign	Het
Sgce	T	A	6: 4,694,106 (GRCm39)	R283S	probably damaging	Het
Slc25a20	T	G	9: 108,559,657 (GRCm39)		probably null	Het
Slc6a4	C	G	11: 76,907,911 (GRCm39)	Y358*	probably null	Het
Sned1	A	C	1: 93,209,458 (GRCm39)	E857A	probably damaging	Het
Spata31e2	A	T	1: 26,723,548 (GRCm39)	L544Q	probably benign	Het
Spata31e3	T	C	13: 50,399,780 (GRCm39)	I849V	probably benign	Het
Spdye4b	C	T	5: 143,188,145 (GRCm39)	R213C	possibly damaging	Het
Spry2	T	G	14: 106,130,946 (GRCm39)	E80A	probably damaging	Het
Stard9	G	A	2: 120,497,015 (GRCm39)	C142Y	probably benign	Het
Sync	A	T	4: 129,188,099 (GRCm39)	Q377L	probably benign	Het
Tdrd12	A	G	7: 35,185,117 (GRCm39)	C718R		Het
Tgoln1	G	C	6: 72,593,261 (GRCm39)	T73R	probably benign	Het
Tmbim1	T	C	1: 74,330,438 (GRCm39)	E185G	probably benign	Het
Tyk2	T	C	9: 21,019,330 (GRCm39)	M1031V	probably damaging	Het
Vmn1r71	C	T	7: 10,482,428 (GRCm39)	V87I	not run	Het
Vmn2r49	A	G	7: 9,720,741 (GRCm39)	V250A	probably benign	Het
Yipf3	A	C	17: 46,561,753 (GRCm39)	T187P	probably damaging	Het
Zfp148	G	T	16: 33,255,160 (GRCm39)	R50L	possibly damaging	Het
Zfp628	G	A	7: 4,924,817 (GRCm39)	G1013E	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
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
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'- CTTCCCAGCCCTGAGATTATGAG -3'
(R):5'- GCACCTGTGTTAACTAAGCTCG -3'

Sequencing Primer
(F):5'- TTATGAGCAGCCGTAGACCCTAATG -3'
(R):5'- ACCTGTGTTAACTAAGCTCGTGGAG -3'

Posted On

2019-09-13