Mutagenetix > Incidental Mutation

Incidental Mutation 'R7734:Slc6a13'

596048

Institutional Source

Beutler Lab

Gene Symbol

Slc6a13

Ensembl Gene

ENSMUSG00000030108

Gene Name

solute carrier family 6 (neurotransmitter transporter, GABA), member 13

Synonyms

Gat2, Gabt3

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.760) question?

Stock #

R7734 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121300227-121337733 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121337375 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 590 (T590S)

Ref Sequence

ENSEMBL: ENSMUSP00000066779 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064580]

AlphaFold

P31649

Predicted Effect

probably benign
Transcript: ENSMUST00000064580
AA Change: T590S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000066779
Gene: ENSMUSG00000030108
AA Change: T590S

Domain	Start	End	E-Value	Type
Pfam:SNF	32	556	6.2e-252	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced taurine levels in the liver and increased taurine levels in the brain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	T	A	18: 12,189,263	I591N	possibly damaging	Het
Anxa2	T	C	9: 69,491,482	Y333H	probably benign	Het
Arid1a	A	T	4: 133,681,368	F1558I	unknown	Het
Aste1	A	G	9: 105,397,479	D306G	probably damaging	Het
Atp2a2	A	G	5: 122,458,527	V843A	possibly damaging	Het
Atrip	T	A	9: 109,065,506	H451L	probably benign	Het
Cdc42bpb	T	C	12: 111,329,230	D200G	probably damaging	Het
Ceacam19	A	C	7: 19,886,595	M37R	probably benign	Het
Cemip	G	A	7: 83,957,664	R782*	probably null	Het
Cpe	A	T	8: 64,617,620	I197N	probably benign	Het
Csmd2	C	A	4: 128,552,057	P3307T		Het
Cyp4a12b	C	A	4: 115,411,740	Q20K	possibly damaging	Het
Dcaf1	T	C	9: 106,838,679	Y332H	probably damaging	Het
Dclk3	A	G	9: 111,469,095	H569R	probably damaging	Het
Dcp1b	A	G	6: 119,215,283	S387G	probably benign	Het
Ddx24	A	G	12: 103,417,560	M590T	possibly damaging	Het
Dixdc1	T	G	9: 50,701,968	Q229P	probably damaging	Het
Dnase1l3	T	C	14: 7,977,144	R181G	probably benign	Het
Dzip1l	A	T	9: 99,667,682	D735V	probably damaging	Het
Edem3	T	C	1: 151,818,585	S890P	probably benign	Het
Fuom	A	G	7: 140,099,542	L155P	unknown	Het
Gm6408	C	A	5: 146,484,350	S263*	probably null	Het
Helz	C	G	11: 107,685,422	S1814R	unknown	Het
Hrc	T	C	7: 45,336,676	L417P	probably benign	Het
Igdcc4	A	C	9: 65,131,753	H894P	probably damaging	Het
Lgr6	C	A	1: 135,003,243	V296L	probably damaging	Het
Map3k4	T	A	17: 12,264,111	Y573F	probably damaging	Het
Mest	T	C	6: 30,746,300	Y296H	unknown	Het
Mettl21a	C	T	1: 64,608,129	V90M	probably damaging	Het
Mfsd4b1	A	T	10: 40,007,378	N25K	probably damaging	Het
Mmd	T	A	11: 90,276,753	F203I	probably damaging	Het
Myo15	G	A	11: 60,510,282	V3028M	probably benign	Het
Nlrp1a	T	A	11: 71,108,000	N859I	unknown	Het
Nrcam	T	C	12: 44,537,251	L36P	possibly damaging	Het
Nup107	C	A	10: 117,758,012	E759*	probably null	Het
Olfr305	A	G	7: 86,364,268	I23T	not run	Het
Pcdh7	T	G	5: 57,719,634	I177S	probably damaging	Het
Pde6a	T	C	18: 61,232,866	I221T	probably benign	Het
Ptpn13	A	T	5: 103,561,962	N1497I	probably damaging	Het
Rpl4	T	A	9: 64,177,379	H245Q	probably benign	Het
Rsf1	C	CCACGGCGGG	7: 97,579,908		probably benign	Het
Scara5	A	G	14: 65,731,151	D291G	possibly damaging	Het
Sept14	T	A	5: 129,683,519	I422L	probably benign	Het
Serpina1e	T	C	12: 103,950,892	K173E	probably benign	Het
Slc5a1	C	T	5: 33,160,935	T644I	probably benign	Het
Smarca4	C	T	9: 21,667,362	T938I	possibly damaging	Het
Stxbp1	A	T	2: 32,801,820	D453E	probably benign	Het
Tcf12	C	A	9: 71,922,661	V173L	probably benign	Het
Tenm3	A	G	8: 48,646,333	C146R	probably damaging	Het
Trim11	T	C	11: 58,978,354	C39R	probably damaging	Het
Trim37	A	G	11: 87,177,995	Y389C	probably damaging	Het
Ttll8	C	T	15: 88,914,165	G789D	probably damaging	Het
Tubb2a	C	T	13: 34,074,793	S338N	probably benign	Het
Ulk2	G	A	11: 61,853,301	Q50*	probably null	Het
Urgcp	T	C	11: 5,716,406	D687G	probably benign	Het
Usp13	C	T	3: 32,837,905	H78Y	probably benign	Het
Vmn2r100	T	A	17: 19,522,034	D223E	probably benign	Het
Vwc2	G	A	11: 11,115,929	A6T	possibly damaging	Het

Other mutations in Slc6a13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01131:Slc6a13	APN	6	121321641	missense	probably damaging	1.00
IGL01947:Slc6a13	APN	6	121325157	critical splice donor site	probably null
IGL01969:Slc6a13	APN	6	121335642	missense	probably damaging	1.00
IGL02546:Slc6a13	APN	6	121333364	missense	probably benign
IGL02988:Slc6a13	APN	6	121326107	unclassified	probably benign
IGL03093:Slc6a13	APN	6	121332448	missense	probably damaging	1.00
IGL03358:Slc6a13	APN	6	121334536	missense	probably benign
IGL03384:Slc6a13	APN	6	121332391	missense	probably damaging	1.00
ANU74:Slc6a13	UTSW	6	121334876	missense	probably benign	0.42
R0217:Slc6a13	UTSW	6	121324320	missense	probably damaging	0.99
R0230:Slc6a13	UTSW	6	121324303	missense	probably benign	0.03
R0744:Slc6a13	UTSW	6	121302867	missense	probably damaging	1.00
R1546:Slc6a13	UTSW	6	121332374	missense	possibly damaging	0.78
R1604:Slc6a13	UTSW	6	121332369	missense	probably benign	0.02
R1654:Slc6a13	UTSW	6	121336926	missense	probably benign
R1781:Slc6a13	UTSW	6	121334852	missense	probably damaging	0.99
R1978:Slc6a13	UTSW	6	121332373	missense	probably damaging	1.00
R2130:Slc6a13	UTSW	6	121325041	missense	possibly damaging	0.77
R4570:Slc6a13	UTSW	6	121336142	critical splice donor site	probably null
R4623:Slc6a13	UTSW	6	121325145	missense	probably damaging	0.99
R4755:Slc6a13	UTSW	6	121325049	missense	probably damaging	1.00
R5068:Slc6a13	UTSW	6	121333342	missense	probably damaging	0.99
R5485:Slc6a13	UTSW	6	121336073	missense	probably damaging	1.00
R5687:Slc6a13	UTSW	6	121302741	missense	probably benign	0.00
R6045:Slc6a13	UTSW	6	121321628	missense	probably damaging	1.00
R6235:Slc6a13	UTSW	6	121302794	missense	probably benign	0.02
R6338:Slc6a13	UTSW	6	121334839	missense	probably damaging	0.96
R6393:Slc6a13	UTSW	6	121336842	missense	possibly damaging	0.83
R6844:Slc6a13	UTSW	6	121325053	missense	probably damaging	0.99
R7379:Slc6a13	UTSW	6	121336839	nonsense	probably null
R7800:Slc6a13	UTSW	6	121321699	missense	probably damaging	0.98
R7862:Slc6a13	UTSW	6	121335630	missense	probably damaging	1.00
R7935:Slc6a13	UTSW	6	121334491	missense	possibly damaging	0.46
R8177:Slc6a13	UTSW	6	121325028	nonsense	probably null
R8324:Slc6a13	UTSW	6	121337414	makesense	probably null
R8457:Slc6a13	UTSW	6	121326104	splice site	probably null
R8992:Slc6a13	UTSW	6	121336942	nonsense	probably null
R8995:Slc6a13	UTSW	6	121325053	missense	probably damaging	1.00
R9104:Slc6a13	UTSW	6	121336085	missense	probably benign
R9168:Slc6a13	UTSW	6	121325083	missense	probably damaging	1.00
R9235:Slc6a13	UTSW	6	121325025	missense	probably damaging	0.98
R9242:Slc6a13	UTSW	6	121318269	missense	probably damaging	0.99
RF020:Slc6a13	UTSW	6	121324351	critical splice donor site	probably null
Z1177:Slc6a13	UTSW	6	121334503	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- ACTATGGGGTTGGCAACTGG -3'
(R):5'- TGTGTGGACCACCCTGGAATAG -3'

Sequencing Primer
(F):5'- TTGGCAACTGGAAGCAGACTATAG -3'
(R):5'- CATCAAGATAGGAGGTACCCAGTTC -3'

Posted On

2019-11-12