Mutagenetix > Incidental Mutation

Incidental Mutation 'R4755:Slc6a13'

357909

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

042033-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.658) question?

Stock #

R4755 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121300227-121337733 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121325049 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 197 (G197S)

Ref Sequence

ENSEMBL: ENSMUSP00000066779 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064580] [ENSMUST00000142419]

AlphaFold

P31649

Predicted Effect

probably damaging
Transcript: ENSMUST00000064580
AA Change: G197S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066779
Gene: ENSMUSG00000030108
AA Change: G197S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104848

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142021

Predicted Effect

probably benign
Transcript: ENSMUST00000142419

SMART Domains

Protein: ENSMUSP00000120689
Gene: ENSMUSG00000030108

Domain	Start	End	E-Value	Type
Pfam:SNF	43	192	4e-78	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (112/117)

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	T	A	3: 59,825,859		noncoding transcript	Het
Accs	T	C	2: 93,841,337	E236G	probably damaging	Het
Agrn	C	T	4: 156,173,522		probably benign	Het
Ahi1	A	G	10: 21,055,047	I929V	possibly damaging	Het
Akap5	C	A	12: 76,327,807	C4*	probably null	Het
Amotl2	A	T	9: 102,720,480	H146L	probably damaging	Het
Ank1	A	G	8: 23,104,974	N666S	probably damaging	Het
Atp10d	A	T	5: 72,246,166	T373S	probably benign	Het
Bpifb9b	T	A	2: 154,319,694	M582K	probably benign	Het
Brca2	T	A	5: 150,559,987		probably null	Het
C130079G13Rik	C	T	3: 59,936,314	A143V	probably benign	Het
C330021F23Rik	A	T	8: 3,583,922	S8C	probably damaging	Het
Ccdc149	A	G	5: 52,404,151	V229A	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdk5rap2	A	G	4: 70,238,425	S1617P	probably damaging	Het
Cenpk	A	T	13: 104,230,871	M37L	probably benign	Het
Cenpk	A	T	13: 104,249,512	H305L	probably benign	Het
Ces5a	C	A	8: 93,535,677	A11S	probably benign	Het
Cfap65	T	C	1: 74,928,361	E186G	probably damaging	Het
Cfh	T	A	1: 140,088,808	I593F	probably damaging	Het
Clstn2	C	T	9: 97,445,673	V961I	probably benign	Het
Cog5	T	A	12: 31,869,406		probably null	Het
Col4a4	T	C	1: 82,541,174	D100G	unknown	Het
Cyp3a41a	T	C	5: 145,715,506	D61G	probably damaging	Het
Dnah10	A	G	5: 124,747,745	N655S	probably benign	Het
Dnaic1	C	G	4: 41,610,269	T295R	probably damaging	Het
Dnajc6	C	T	4: 101,550,799	A44V	probably damaging	Het
Eif4enif1	A	T	11: 3,244,016	D960V	probably damaging	Het
Fam167b	C	T	4: 129,578,342	G12R	probably damaging	Het
Fam20b	A	T	1: 156,687,496	Y266*	probably null	Het
Fer1l6	T	A	15: 58,640,211	V1509D	probably benign	Het
Fhad1	A	T	4: 141,928,483	I105N	probably damaging	Het
Fmo2	T	C	1: 162,888,805	D71G	probably damaging	Het
Folr2	T	C	7: 101,843,799	T6A	possibly damaging	Het
Fry	A	C	5: 150,398,254	E1018A	probably damaging	Het
Gas2l2	A	G	11: 83,429,367	I21T	probably damaging	Het
Gfra1	T	C	19: 58,453,244	Y85C	probably damaging	Het
Gm9117	T	C	3: 93,938,786		probably null	Het
Gpld1	T	A	13: 24,979,692	Y44*	probably null	Het
Gpld1	A	T	13: 24,979,688	Y43F	probably benign	Het
Grid2	A	G	6: 63,908,988	T123A	probably benign	Het
Grina	T	C	15: 76,249,242	L305P	probably damaging	Het
Gucy1a1	G	A	3: 82,094,795	A659V	probably benign	Het
H2-T10	T	A	17: 36,118,945	K319*	probably null	Het
Hey2	A	T	10: 30,834,304	V151E	probably benign	Het
Ighv1-69	G	A	12: 115,623,558	T13I	probably benign	Het
Il1rap	C	A	16: 26,722,782	A591E	probably benign	Het
Ildr1	T	C	16: 36,722,021	L261P	probably benign	Het
Jak1	A	G	4: 101,174,157	Y463H	probably damaging	Het
Lrp1b	T	C	2: 41,269,273	I1666V	probably benign	Het
Lrp1b	T	A	2: 41,471,016	T592S	probably benign	Het
Lrrc36	A	G	8: 105,452,144	T445A	possibly damaging	Het
Ly9	G	A	1: 171,607,238	S29F	probably damaging	Het
Mapk7	A	C	11: 61,490,843	C32W	probably damaging	Het
March10	C	T	11: 105,364,476		probably benign	Het
Mier2	A	T	10: 79,549,197	M119K	probably damaging	Het
Mpv17	A	T	5: 31,145,982	C59*	probably null	Het
Mrpl27	G	A	11: 94,653,833		probably benign	Het
Myo18b	G	A	5: 112,874,474	Q351*	probably null	Het
Myo1a	A	G	10: 127,715,688	I704M	probably damaging	Het
Nadsyn1	A	G	7: 143,806,913	C373R	probably damaging	Het
Nckipsd	C	A	9: 108,814,739	A513E	probably benign	Het
Neb	T	C	2: 52,220,209	D209G	probably damaging	Het
Nkapl	T	A	13: 21,468,287	Q52L	unknown	Het
Nptx2	G	A	5: 144,546,440	S126N	probably benign	Het
Olfr13	G	A	6: 43,174,043	S19N	probably benign	Het
Olfr653	T	A	7: 104,580,061	Y138*	probably null	Het
Olfr829	A	T	9: 18,857,180	H185L	probably benign	Het
Olfr917	A	G	9: 38,665,832	V4A	probably benign	Het
Pclo	A	T	5: 14,714,348	R4278S	unknown	Het
Pcnx	T	G	12: 81,950,294	L988R	probably damaging	Het
Prl2c5	C	A	13: 13,189,385	N75K	probably benign	Het
Prpf19	T	G	19: 10,897,790		probably benign	Het
Ralgapa1	A	G	12: 55,712,748	S997P	probably damaging	Het
Rangap1	T	C	15: 81,712,917	T226A	probably benign	Het
Rimklb	G	A	6: 122,456,406	L262F	probably damaging	Het
Rnf169	A	G	7: 99,925,723	M555T	probably benign	Het
Rp1l1	A	T	14: 64,030,070	D1035V	probably benign	Het
Scd2	T	A	19: 44,301,352	L262Q	probably damaging	Het
Scgb2b12	T	A	7: 32,325,531	M84L	probably benign	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Sipa1l1	G	A	12: 82,372,386	V613I	possibly damaging	Het
Slc25a23	T	A	17: 57,052,794	D67V	possibly damaging	Het
Slc25a39	C	T	11: 102,406,666		probably benign	Het
Slc4a10	T	A	2: 62,296,988	F895Y	probably damaging	Het
Slc5a4a	A	C	10: 76,186,564	K578Q	probably benign	Het
Smarca2	A	T	19: 26,654,483	E566V	possibly damaging	Het
Sorbs3	A	T	14: 70,184,099	N594K	probably benign	Het
Spata22	A	T	11: 73,345,756	D296V	probably damaging	Het
Sphk2	G	A	7: 45,713,634	A11V	possibly damaging	Het
Spp1	A	T	5: 104,435,215		probably benign	Het
Strn3	T	A	12: 51,610,216	I760L	possibly damaging	Het
Syk	A	T	13: 52,641,986	Y539F	probably benign	Het
Thsd7b	T	A	1: 130,210,264	Y1560N	probably benign	Het
Tmod2	C	A	9: 75,597,212	E42*	probably null	Het
Tom1l1	T	C	11: 90,685,116	E30G	probably damaging	Het
Trav10	G	A	14: 53,506,061	A40T	probably benign	Het
Trav14-2	G	A	14: 53,640,780		probably benign	Het
Tril	T	A	6: 53,818,464	E591V	probably damaging	Het
Trp53bp1	T	A	2: 121,228,606	R179*	probably null	Het
Tspoap1	A	T	11: 87,771,663	D562V	possibly damaging	Het
Usp44	A	T	10: 93,846,906	H406L	probably damaging	Het
Vangl1	A	G	3: 102,158,292	I509T	probably benign	Het
Vax2	T	G	6: 83,711,397	L34W	probably damaging	Het
Vmn1r55	A	T	7: 5,147,026	C133S	probably damaging	Het
Vmn2r8	T	A	5: 108,801,700	D427V	probably benign	Het
Vwde	A	G	6: 13,205,852	I232T	possibly damaging	Het
Wnk1	C	A	6: 119,963,470	A769S	probably damaging	Het
Xpo4	A	C	14: 57,618,181	S264A	probably benign	Het
Zfp330	A	T	8: 82,769,386	C75*	probably null	Het
Zfp526	T	A	7: 25,225,639	L441Q	probably benign	Het
Zfp607b	T	G	7: 27,703,505	L462R	probably damaging	Het
Zfp719	T	A	7: 43,590,793	F602I	probably 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
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
R7734:Slc6a13	UTSW	6	121337375	missense	probably benign	0.00
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'- CAACGTTCATAGCCCTGGGTTC -3'
(R):5'- GCATTCAGGAAGGAAGCCAC -3'

Sequencing Primer
(F):5'- GGGTTCTAACCCTTACACAG -3'
(R):5'- TGCCTGGACCAGCCTAAAG -3'

Posted On

2015-11-11