Mutagenetix > Incidental Mutation

Incidental Mutation 'R4886:Slc6a1'

375713

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

042492-MU

Accession Numbers

Essential gene?

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

Stock #

R4886 (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 114279494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 91 (I91N)

Ref Sequence

ENSEMBL: ENSMUSP00000032454 (fasta)

Gene Model

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

AlphaFold

P31648

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032454
AA Change: I91N

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032454
Gene: ENSMUSG00000030310
AA Change: I91N

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.5%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	A	T	2: 32,464,630 (GRCm39)		probably benign	Het
Aagab	G	C	9: 63,543,738 (GRCm39)	A231P	possibly damaging	Het
Adgra3	C	T	5: 50,156,537 (GRCm39)	D398N	probably benign	Het
Ap3b1	A	T	13: 94,609,313 (GRCm39)	D616V	possibly damaging	Het
Apc2	T	A	10: 80,150,047 (GRCm39)	H1700Q	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp2b4	T	A	1: 133,634,518 (GRCm39)	I1177L	probably benign	Het
Card6	T	C	15: 5,134,623 (GRCm39)		probably null	Het
Cdk13	A	G	13: 17,894,319 (GRCm39)	S1103P	probably benign	Het
Cdk6	G	T	5: 3,394,444 (GRCm39)	K26N	possibly damaging	Het
Cfap221	T	C	1: 119,861,934 (GRCm39)	T614A	probably damaging	Het
Cfap221	T	A	1: 119,912,488 (GRCm39)	Y133F	probably damaging	Het
Clcc1	A	G	3: 108,584,154 (GRCm39)	T513A	probably benign	Het
Clec4g	T	A	8: 3,766,419 (GRCm39)		probably benign	Het
Cntln	A	C	4: 84,889,466 (GRCm39)	E316D	probably benign	Het
Col6a4	A	G	9: 105,937,271 (GRCm39)	I1415T	probably benign	Het
Cpne2	T	A	8: 95,290,592 (GRCm39)	D392E	probably benign	Het
Cpz	T	C	5: 35,664,048 (GRCm39)	N496D	probably damaging	Het
Cyp3a59	A	G	5: 146,024,197 (GRCm39)	D61G	probably damaging	Het
Cyp4a29	T	C	4: 115,110,078 (GRCm39)	V440A	probably benign	Het
Dbn1	A	T	13: 55,625,355 (GRCm39)		probably benign	Het
Ddx46	A	G	13: 55,786,012 (GRCm39)	D64G	unknown	Het
Dhrs7c	G	A	11: 67,700,620 (GRCm39)	V56M	probably damaging	Het
Dnhd1	T	A	7: 105,364,015 (GRCm39)	H4122Q	probably benign	Het
Ecm2	A	T	13: 49,676,263 (GRCm39)	I327F	possibly damaging	Het
Elavl3	T	C	9: 21,937,614 (GRCm39)	K189E	possibly damaging	Het
Enam	A	T	5: 88,636,593 (GRCm39)	R82*	probably null	Het
Fat3	T	A	9: 15,932,626 (GRCm39)	I1436F	probably benign	Het
Glt8d2	T	C	10: 82,487,874 (GRCm39)		probably benign	Het
Grin2c	T	C	11: 115,151,616 (GRCm39)	T115A	probably damaging	Het
H6pd	C	T	4: 150,067,235 (GRCm39)	V384M	possibly damaging	Het
Hba-x	A	G	11: 32,227,008 (GRCm39)	E39G	probably benign	Het
Hcar2	G	A	5: 124,003,260 (GRCm39)	T81M	probably benign	Het
Herpud2	G	A	9: 25,036,285 (GRCm39)	P125L	probably benign	Het
Hnrnpul2	C	T	19: 8,807,191 (GRCm39)	P618S	probably benign	Het
Hpse2	T	C	19: 43,373,203 (GRCm39)	Y142C	probably damaging	Het
Iqcm	A	T	8: 76,615,228 (GRCm39)	R436S	possibly damaging	Het
Itih1	A	G	14: 30,658,658 (GRCm39)		probably null	Het
Kcnk10	T	C	12: 98,401,418 (GRCm39)	N405S	possibly damaging	Het
Klhl14	A	T	18: 21,691,029 (GRCm39)		probably null	Het
L3mbtl3	T	A	10: 26,168,668 (GRCm39)	E587V	unknown	Het
Leap2	A	T	11: 53,313,653 (GRCm39)	F40I	probably damaging	Het
Leng8	T	A	7: 4,147,930 (GRCm39)		probably null	Het
Lrrc66	A	G	5: 73,765,910 (GRCm39)	F378L	probably benign	Het
Mansc1	T	C	6: 134,587,625 (GRCm39)	H184R	probably benign	Het
Map10	T	A	8: 126,397,431 (GRCm39)	Y275N	probably damaging	Het
Med23	T	C	10: 24,750,581 (GRCm39)		probably null	Het
Mpp3	A	G	11: 101,915,962 (GRCm39)	Y55H	probably benign	Het
Mrpl17	T	C	7: 105,459,260 (GRCm39)	N112S	probably benign	Het
Nectin4	T	C	1: 171,212,383 (GRCm39)	V327A	possibly damaging	Het
Nlrp14	A	T	7: 106,781,862 (GRCm39)	H353L	probably benign	Het
Notch2	A	T	3: 98,009,735 (GRCm39)	Y554F	probably damaging	Het
Nphp3	T	C	9: 103,880,193 (GRCm39)	S72P	probably damaging	Het
Nrsn2	T	C	2: 152,211,531 (GRCm39)	K167E	probably benign	Het
Or14j8	A	T	17: 38,262,962 (GRCm39)	S318T	probably benign	Het
Or5b117	T	C	19: 13,431,885 (GRCm39)		probably null	Het
Or8g30	T	C	9: 39,230,881 (GRCm39)	T10A	probably benign	Het
Or9i2	T	A	19: 13,815,643 (GRCm39)	E298V	probably damaging	Het
Osbpl9	T	C	4: 108,925,564 (GRCm39)	N485S	probably benign	Het
Pbk	T	A	14: 66,052,650 (GRCm39)	H164Q	probably damaging	Het
Pfn2	G	T	3: 57,754,874 (GRCm39)	N10K	probably damaging	Het
Pi4ka	A	G	16: 17,176,225 (GRCm39)	S405P		Het
Pik3ca	A	G	3: 32,491,312 (GRCm39)	D133G	probably damaging	Het
Pramel27	G	T	4: 143,579,873 (GRCm39)	R486L	probably benign	Het
Prkar2a	G	A	9: 108,622,823 (GRCm39)		probably null	Het
Prl6a1	A	T	13: 27,502,983 (GRCm39)	D193V	probably damaging	Het
Psg25	A	T	7: 18,258,838 (GRCm39)	D279E	probably benign	Het
Rad21	G	T	15: 51,831,896 (GRCm39)	P395Q	probably damaging	Het
Rnf168	C	A	16: 32,118,014 (GRCm39)	T525K	probably benign	Het
Rpn2	T	C	2: 157,159,964 (GRCm39)		probably null	Het
Rreb1	G	A	13: 38,115,034 (GRCm39)	V798M	possibly damaging	Het
Scgb3a2	C	T	18: 43,899,819 (GRCm39)	P36S	probably damaging	Het
Scn3a	T	C	2: 65,291,376 (GRCm39)	D1790G	probably damaging	Het
Sec24b	A	T	3: 129,777,619 (GRCm39)	H1226Q	probably benign	Het
Sec63	T	A	10: 42,665,389 (GRCm39)	Y106*	probably null	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc12a3	G	A	8: 95,078,438 (GRCm39)		probably null	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Spata1	C	G	3: 146,175,529 (GRCm39)	D326H	probably damaging	Het
St8sia1	G	A	6: 142,859,860 (GRCm39)	L90F	probably damaging	Het
Thsd4	T	A	9: 59,896,313 (GRCm39)	Y657F	probably benign	Het
Thsd7a	A	T	6: 12,327,659 (GRCm39)	C1404*	probably null	Het
Tma16	A	C	8: 66,934,129 (GRCm39)	C75W	probably damaging	Het
Trgv4	T	C	13: 19,369,236 (GRCm39)	V29A	probably benign	Het
Trim3	T	A	7: 105,267,047 (GRCm39)	H444L	probably damaging	Het
Trmt10a	A	T	3: 137,854,146 (GRCm39)	K75*	probably null	Het
Ttn	T	C	2: 76,561,644 (GRCm39)	D28954G	probably damaging	Het
Uggt2	A	G	14: 119,273,376 (GRCm39)		probably null	Het
Vars1	T	A	17: 35,234,702 (GRCm39)	V1177E	probably benign	Het
Vmn2r114	G	T	17: 23,527,008 (GRCm39)	A508E	probably benign	Het
Vmn2r19	G	T	6: 123,286,800 (GRCm39)	K144N	probably benign	Het
Wdr41	C	T	13: 95,151,682 (GRCm39)	Q281*	probably null	Het
Zfp938	T	A	10: 82,061,957 (GRCm39)	Q221L	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
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'- AGTCCCCAATGACAGTTGTC -3'
(R):5'- AATGGGCCCATAGCTTCCTTG -3'

Sequencing Primer
(F):5'- GGAGGTGATATCAGAACTTCTGTATC -3'
(R):5'- ATAGCTTCCTTGTCCCGGAG -3'

Posted On

2016-03-17