Mutagenetix > Incidental Mutation

Incidental Mutation 'R1978:Slc6a13'

222000

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

039991-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.658) question?

Stock #

R1978 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121300227-121337733 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121332373 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 281 (D281V)

Ref Sequence

ENSEMBL: ENSMUSP00000066779 (fasta)

Gene Model

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

AlphaFold

P31649

Predicted Effect

probably damaging
Transcript: ENSMUST00000064580
AA Change: D281V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066779
Gene: ENSMUSG00000030108
AA Change: D281V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142021

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 63,898,537 (GRCm38)	C205*	probably null	Het
2810474O19Rik	T	A	6: 149,326,432 (GRCm38)	N325K	probably benign	Het
4921539E11Rik	T	A	4: 103,270,764 (GRCm38)	T55S	possibly damaging	Het
Akap12	A	G	10: 4,313,855 (GRCm38)	D88G	probably benign	Het
Ankrd53	C	A	6: 83,763,203 (GRCm38)	F84L	probably damaging	Het
Apol7b	A	C	15: 77,423,339 (GRCm38)	F319V	probably damaging	Het
Bsn	A	G	9: 108,114,549 (GRCm38)	S1335P	probably benign	Het
Cep192	T	C	18: 67,803,158 (GRCm38)		probably null	Het
Cfap57	A	G	4: 118,593,132 (GRCm38)	S598P	probably benign	Het
Commd8	T	C	5: 72,165,499 (GRCm38)	H25R	probably damaging	Het
Crisp4	T	C	1: 18,128,665 (GRCm38)	I143V	probably benign	Het
Cyp4a12b	A	T	4: 115,438,145 (GRCm38)	T483S	probably benign	Het
Dbx2	C	T	15: 95,632,353 (GRCm38)	M244I	probably damaging	Het
Dnah6	T	G	6: 73,121,970 (GRCm38)	H1982P	possibly damaging	Het
Fam220a	C	A	5: 143,563,127 (GRCm38)	P98Q	probably damaging	Het
Ggnbp1	A	G	17: 27,029,543 (GRCm38)	K29E	possibly damaging	Het
Gm14569	A	C	X: 36,432,128 (GRCm38)	M976R	probably benign	Het
Gm9573	T	A	17: 35,622,965 (GRCm38)		probably benign	Het
Hck	G	T	2: 153,129,856 (GRCm38)	W112C	probably damaging	Het
Heatr5a	A	T	12: 51,939,658 (GRCm38)	S591T	possibly damaging	Het
Hhat	A	G	1: 192,717,107 (GRCm38)	S242P	probably benign	Het
Hnrnpll	A	G	17: 80,044,518 (GRCm38)	S333P	probably benign	Het
Hoxc6	T	C	15: 103,010,007 (GRCm38)		probably null	Het
Inpp5j	G	A	11: 3,502,150 (GRCm38)	P367S	probably damaging	Het
Lamc2	A	G	1: 153,133,597 (GRCm38)		probably null	Het
Loxhd1	T	A	18: 77,321,642 (GRCm38)	I194N	possibly damaging	Het
Miga1	CCAGGGCAG	CCAG	3: 152,335,304 (GRCm38)		probably null	Het
Mkln1	C	T	6: 31,490,530 (GRCm38)	Q60*	probably null	Het
Mybph	C	A	1: 134,196,996 (GRCm38)	H185N	probably benign	Het
Myo1g	T	C	11: 6,520,829 (GRCm38)	D9G	possibly damaging	Het
Myo6	A	T	9: 80,228,925 (GRCm38)	D110V	probably damaging	Het
Ncoa7	A	G	10: 30,691,299 (GRCm38)	V412A	probably benign	Het
Neb	T	C	2: 52,287,345 (GRCm38)	K1328R	probably damaging	Het
Olfm5	T	A	7: 104,164,741 (GRCm38)	Q22L	unknown	Het
Olfr1106	C	T	2: 87,048,835 (GRCm38)	V134M	possibly damaging	Het
Olfr1328	A	T	4: 118,934,184 (GRCm38)	Y221*	probably null	Het
Olfr1355	A	G	10: 78,879,280 (GRCm38)	Y36C	probably damaging	Het
Olfr1414	C	A	1: 92,511,777 (GRCm38)	G84C	probably damaging	Het
Olfr1423	T	C	19: 12,036,341 (GRCm38)	T134A	probably benign	Het
Olfr414	T	A	1: 174,431,091 (GRCm38)	I221N	probably damaging	Het
P3h1	A	T	4: 119,247,976 (GRCm38)	Q717L	probably null	Het
Pclo	T	C	5: 14,713,795 (GRCm38)	I4094T	unknown	Het
Pfdn6	G	A	17: 33,939,077 (GRCm38)	R73W	probably benign	Het
Phyhipl	A	C	10: 70,559,761 (GRCm38)	M205R	possibly damaging	Het
Pitpnm1	C	T	19: 4,107,973 (GRCm38)		probably null	Het
Plcg1	A	G	2: 160,752,578 (GRCm38)		probably null	Het
Pnldc1	A	G	17: 12,906,505 (GRCm38)	S81P	possibly damaging	Het
Pno1	T	C	11: 17,204,519 (GRCm38)	I221V	possibly damaging	Het
Porcn	A	G	X: 8,204,301 (GRCm38)	V75A	probably damaging	Het
Prkcg	T	A	7: 3,305,346 (GRCm38)	C69S	probably damaging	Het
Rbbp6	G	T	7: 122,999,488 (GRCm38)		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324 (GRCm38)		probably benign	Het
Scly	A	G	1: 91,320,169 (GRCm38)	D413G	probably damaging	Het
Scn11a	G	A	9: 119,780,795 (GRCm38)	R996*	probably null	Het
Slfn5	T	C	11: 82,956,616 (GRCm38)	V109A	probably benign	Het
Smyd1	A	T	6: 71,312,719 (GRCm38)		probably null	Het
Snx29	T	A	16: 11,367,724 (GRCm38)	M57K	probably benign	Het
Stag1	T	G	9: 100,888,086 (GRCm38)	I603S	probably benign	Het
Svep1	C	A	4: 58,097,292 (GRCm38)	C1417F	possibly damaging	Het
Tbc1d23	T	C	16: 57,189,351 (GRCm38)	I392V	probably benign	Het
Tchh	T	C	3: 93,446,799 (GRCm38)	L1182P	unknown	Het
Tle3	T	A	9: 61,394,633 (GRCm38)	V108E	probably damaging	Het
Tmem144	T	C	3: 79,825,400 (GRCm38)		probably null	Het
Tpr	T	G	1: 150,419,907 (GRCm38)	L894V	possibly damaging	Het
Trappc9	A	T	15: 73,000,025 (GRCm38)	V472E	probably damaging	Het
Trim38	T	C	13: 23,791,098 (GRCm38)	V340A	probably damaging	Het
Ttc37	T	C	13: 76,134,815 (GRCm38)	V752A	probably benign	Het
Ttn	A	T	2: 76,811,243 (GRCm38)	L5176Q	possibly damaging	Het
Vmn1r12	T	A	6: 57,159,509 (GRCm38)	I197N	possibly damaging	Het
Vmn1r26	T	C	6: 58,009,126 (GRCm38)	Y26C	possibly damaging	Het
Vwa3a	A	G	7: 120,758,954 (GRCm38)	I83V	probably null	Het
Xirp1	C	T	9: 120,018,591 (GRCm38)	E409K	probably benign	Het
Zc3h14	T	G	12: 98,763,922 (GRCm38)	I46R	probably damaging	Het
Zfp976	A	G	7: 42,613,841 (GRCm38)	C191R	probably damaging	Het

Other mutations in Slc6a13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01131:Slc6a13	APN	6	121,321,641 (GRCm38)	missense	probably damaging	1.00
IGL01947:Slc6a13	APN	6	121,325,157 (GRCm38)	critical splice donor site	probably null
IGL01969:Slc6a13	APN	6	121,335,642 (GRCm38)	missense	probably damaging	1.00
IGL02546:Slc6a13	APN	6	121,333,364 (GRCm38)	missense	probably benign
IGL02988:Slc6a13	APN	6	121,326,107 (GRCm38)	unclassified	probably benign
IGL03093:Slc6a13	APN	6	121,332,448 (GRCm38)	missense	probably damaging	1.00
IGL03358:Slc6a13	APN	6	121,334,536 (GRCm38)	missense	probably benign
IGL03384:Slc6a13	APN	6	121,332,391 (GRCm38)	missense	probably damaging	1.00
ANU74:Slc6a13	UTSW	6	121,334,876 (GRCm38)	missense	probably benign	0.42
R0217:Slc6a13	UTSW	6	121,324,320 (GRCm38)	missense	probably damaging	0.99
R0230:Slc6a13	UTSW	6	121,324,303 (GRCm38)	missense	probably benign	0.03
R0744:Slc6a13	UTSW	6	121,302,867 (GRCm38)	missense	probably damaging	1.00
R1546:Slc6a13	UTSW	6	121,332,374 (GRCm38)	missense	possibly damaging	0.78
R1604:Slc6a13	UTSW	6	121,332,369 (GRCm38)	missense	probably benign	0.02
R1654:Slc6a13	UTSW	6	121,336,926 (GRCm38)	missense	probably benign
R1781:Slc6a13	UTSW	6	121,334,852 (GRCm38)	missense	probably damaging	0.99
R2130:Slc6a13	UTSW	6	121,325,041 (GRCm38)	missense	possibly damaging	0.77
R4570:Slc6a13	UTSW	6	121,336,142 (GRCm38)	critical splice donor site	probably null
R4623:Slc6a13	UTSW	6	121,325,145 (GRCm38)	missense	probably damaging	0.99
R4755:Slc6a13	UTSW	6	121,325,049 (GRCm38)	missense	probably damaging	1.00
R5068:Slc6a13	UTSW	6	121,333,342 (GRCm38)	missense	probably damaging	0.99
R5485:Slc6a13	UTSW	6	121,336,073 (GRCm38)	missense	probably damaging	1.00
R5687:Slc6a13	UTSW	6	121,302,741 (GRCm38)	missense	probably benign	0.00
R6045:Slc6a13	UTSW	6	121,321,628 (GRCm38)	missense	probably damaging	1.00
R6235:Slc6a13	UTSW	6	121,302,794 (GRCm38)	missense	probably benign	0.02
R6338:Slc6a13	UTSW	6	121,334,839 (GRCm38)	missense	probably damaging	0.96
R6393:Slc6a13	UTSW	6	121,336,842 (GRCm38)	missense	possibly damaging	0.83
R6844:Slc6a13	UTSW	6	121,325,053 (GRCm38)	missense	probably damaging	0.99
R7379:Slc6a13	UTSW	6	121,336,839 (GRCm38)	nonsense	probably null
R7734:Slc6a13	UTSW	6	121,337,375 (GRCm38)	missense	probably benign	0.00
R7800:Slc6a13	UTSW	6	121,321,699 (GRCm38)	missense	probably damaging	0.98
R7862:Slc6a13	UTSW	6	121,335,630 (GRCm38)	missense	probably damaging	1.00
R7935:Slc6a13	UTSW	6	121,334,491 (GRCm38)	missense	possibly damaging	0.46
R8177:Slc6a13	UTSW	6	121,325,028 (GRCm38)	nonsense	probably null
R8324:Slc6a13	UTSW	6	121,337,414 (GRCm38)	makesense	probably null
R8457:Slc6a13	UTSW	6	121,326,104 (GRCm38)	splice site	probably null
R8992:Slc6a13	UTSW	6	121,336,942 (GRCm38)	nonsense	probably null
R8995:Slc6a13	UTSW	6	121,325,053 (GRCm38)	missense	probably damaging	1.00
R9104:Slc6a13	UTSW	6	121,336,085 (GRCm38)	missense	probably benign
R9168:Slc6a13	UTSW	6	121,325,083 (GRCm38)	missense	probably damaging	1.00
R9235:Slc6a13	UTSW	6	121,325,025 (GRCm38)	missense	probably damaging	0.98
R9242:Slc6a13	UTSW	6	121,318,269 (GRCm38)	missense	probably damaging	0.99
RF020:Slc6a13	UTSW	6	121,324,351 (GRCm38)	critical splice donor site	probably null
Z1177:Slc6a13	UTSW	6	121,334,503 (GRCm38)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- TGTTCCGTCTTGAGGCATCC -3'
(R):5'- CCGGCCTTTAGAAAAGCAATC -3'

Sequencing Primer
(F):5'- TGCCACTACCATTAGCCA -3'
(R):5'- CTGGTCTAGCTTGACAAGAG -3'

Posted On

2014-08-25