Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00800:Slc6a6'

14121

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc6a6

Ensembl Gene

ENSMUSG00000030096

Gene Name

solute carrier family 6 (neurotransmitter transporter, taurine), member 6

Synonyms

Taut

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00800

Quality Score

Status

Chromosome

Chromosomal Location

91661031-91736044 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 91718151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032185]

AlphaFold

O35316

Predicted Effect

probably benign
Transcript: ENSMUST00000032185

SMART Domains

Protein: ENSMUSP00000032185
Gene: ENSMUSG00000030096

Domain	Start	End	E-Value	Type
Pfam:SNF	41	568	1.2e-241	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205663

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205764

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-pass membrane protein that is a member of a family of sodium and chloride-ion dependent transporters. The encoded protein transports taurine and beta-alanine. There is a pseudogene for this gene on chromosome 21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygous mutant mice have impaired vision associated with retinal degeneration. In addition to the visual defects, mutant mice exhibit reduced female fertility and decreased levels of taurine in a variety of tissues. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,854,613 (GRCm39)	I926L	probably benign	Het
Adam6b	T	C	12: 113,454,062 (GRCm39)	V293A	probably benign	Het
Adamts14	T	A	10: 61,041,197 (GRCm39)	T838S	probably benign	Het
Cdk13	A	G	13: 17,902,727 (GRCm39)	V941A	probably damaging	Het
Cep128	T	C	12: 91,222,438 (GRCm39)	K762E	possibly damaging	Het
Dysf	A	G	6: 84,126,980 (GRCm39)	N1366S	probably damaging	Het
Gfra4	A	G	2: 130,882,203 (GRCm39)	S268P	possibly damaging	Het
Il7r	T	G	15: 9,525,195 (GRCm39)	T56P	probably damaging	Het
Ipo13	C	T	4: 117,769,505 (GRCm39)	D96N	probably benign	Het
Kl	G	A	5: 150,904,233 (GRCm39)	W328*	probably null	Het
Krt86	C	T	15: 101,371,741 (GRCm39)	H104Y	probably benign	Het
Ranbp2	T	A	10: 58,326,526 (GRCm39)	D2732E	probably benign	Het
Rpf2	G	A	10: 40,115,755 (GRCm39)	Q75*	probably null	Het
Scd2	T	C	19: 44,286,569 (GRCm39)	L133P	probably damaging	Het

Other mutations in Slc6a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01829:Slc6a6	APN	6	91,712,170 (GRCm39)	missense	probably damaging	1.00
IGL01896:Slc6a6	APN	6	91,703,050 (GRCm39)	missense	probably damaging	0.97
IGL02087:Slc6a6	APN	6	91,712,160 (GRCm39)	missense	probably benign
IGL02301:Slc6a6	APN	6	91,703,037 (GRCm39)	missense	probably benign	0.31
IGL02439:Slc6a6	APN	6	91,726,808 (GRCm39)	missense	probably damaging	0.99
IGL02555:Slc6a6	APN	6	91,725,311 (GRCm39)	unclassified	probably benign
animas	UTSW	6	91,716,995 (GRCm39)	splice site	probably null
customary	UTSW	6	91,703,224 (GRCm39)	nonsense	probably null
durango	UTSW	6	91,700,452 (GRCm39)	missense	probably damaging	1.00
habit	UTSW	6	91,717,952 (GRCm39)	missense	probably damaging	1.00
R5861_Slc6a6_905	UTSW	6	91,718,014 (GRCm39)	missense	probably damaging	1.00
R6665_Slc6a6_931	UTSW	6	91,703,020 (GRCm39)	missense	probably benign	0.38
R0530:Slc6a6	UTSW	6	91,701,939 (GRCm39)	missense	probably null	0.04
R1327:Slc6a6	UTSW	6	91,703,016 (GRCm39)	missense	probably benign	0.00
R1503:Slc6a6	UTSW	6	91,717,973 (GRCm39)	missense	probably damaging	1.00
R1612:Slc6a6	UTSW	6	91,718,008 (GRCm39)	missense	probably damaging	1.00
R2033:Slc6a6	UTSW	6	91,701,891 (GRCm39)	missense	probably benign	0.12
R2146:Slc6a6	UTSW	6	91,712,161 (GRCm39)	missense	probably benign	0.05
R2309:Slc6a6	UTSW	6	91,703,177 (GRCm39)	missense	possibly damaging	0.63
R2434:Slc6a6	UTSW	6	91,712,193 (GRCm39)	missense	probably benign	0.33
R2656:Slc6a6	UTSW	6	91,718,029 (GRCm39)	missense	probably damaging	1.00
R3402:Slc6a6	UTSW	6	91,703,110 (GRCm39)	missense	probably benign
R3403:Slc6a6	UTSW	6	91,703,110 (GRCm39)	missense	probably benign
R3978:Slc6a6	UTSW	6	91,732,033 (GRCm39)	missense	probably benign	0.41
R4236:Slc6a6	UTSW	6	91,718,257 (GRCm39)	missense	probably damaging	0.98
R4332:Slc6a6	UTSW	6	91,700,452 (GRCm39)	missense	probably damaging	1.00
R4980:Slc6a6	UTSW	6	91,703,041 (GRCm39)	missense	probably damaging	1.00
R5326:Slc6a6	UTSW	6	91,712,170 (GRCm39)	missense	probably damaging	1.00
R5358:Slc6a6	UTSW	6	91,712,155 (GRCm39)	missense	probably benign	0.28
R5542:Slc6a6	UTSW	6	91,712,170 (GRCm39)	missense	probably damaging	1.00
R5774:Slc6a6	UTSW	6	91,721,981 (GRCm39)	missense	probably damaging	1.00
R5839:Slc6a6	UTSW	6	91,700,298 (GRCm39)	missense	probably damaging	1.00
R5861:Slc6a6	UTSW	6	91,718,014 (GRCm39)	missense	probably damaging	1.00
R5939:Slc6a6	UTSW	6	91,731,929 (GRCm39)	missense	probably benign	0.01
R6160:Slc6a6	UTSW	6	91,716,995 (GRCm39)	splice site	probably null
R6262:Slc6a6	UTSW	6	91,732,013 (GRCm39)	missense	possibly damaging	0.66
R6265:Slc6a6	UTSW	6	91,731,896 (GRCm39)	missense	probably damaging	0.99
R6665:Slc6a6	UTSW	6	91,703,020 (GRCm39)	missense	probably benign	0.38
R6998:Slc6a6	UTSW	6	91,729,419 (GRCm39)	missense	probably benign	0.21
R7057:Slc6a6	UTSW	6	91,718,248 (GRCm39)	missense	probably damaging	1.00
R7568:Slc6a6	UTSW	6	91,701,832 (GRCm39)	missense	probably damaging	1.00
R7768:Slc6a6	UTSW	6	91,716,946 (GRCm39)	missense	probably damaging	0.99
R8042:Slc6a6	UTSW	6	91,718,226 (GRCm39)	missense	probably benign	0.11
R8125:Slc6a6	UTSW	6	91,703,087 (GRCm39)	missense	probably damaging	0.97
R8194:Slc6a6	UTSW	6	91,717,952 (GRCm39)	missense	probably damaging	1.00
R8239:Slc6a6	UTSW	6	91,701,951 (GRCm39)	missense	probably benign	0.00
R8343:Slc6a6	UTSW	6	91,703,224 (GRCm39)	nonsense	probably null
R8363:Slc6a6	UTSW	6	91,727,277 (GRCm39)	missense	probably benign	0.03
R8836:Slc6a6	UTSW	6	91,725,444 (GRCm39)	missense	probably damaging	0.96
R9102:Slc6a6	UTSW	6	91,731,940 (GRCm39)	missense	probably benign	0.10
R9257:Slc6a6	UTSW	6	91,716,952 (GRCm39)	missense	possibly damaging	0.74
R9511:Slc6a6	UTSW	6	91,721,921 (GRCm39)	missense	probably damaging	1.00
R9526:Slc6a6	UTSW	6	91,726,808 (GRCm39)	missense	probably benign	0.02
R9701:Slc6a6	UTSW	6	91,700,478 (GRCm39)	missense	probably damaging	1.00
X0002:Slc6a6	UTSW	6	91,700,457 (GRCm39)	missense	probably damaging	1.00
X0063:Slc6a6	UTSW	6	91,718,205 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06