Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01829:Slc6a6'

154720

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 #

IGL01829

Quality Score

Status

Chromosome

Chromosomal Location

91661031-91736044 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91712170 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 233 (F233S)

Ref Sequence

ENSEMBL: ENSMUSP00000032185 (fasta)

Gene Model

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

AlphaFold

O35316

Predicted Effect

probably damaging
Transcript: ENSMUST00000032185
AA Change: F233S

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

SMART Domains

Protein: ENSMUSP00000032185
Gene: ENSMUSG00000030096
AA Change: F233S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205443

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bod1l	A	G	5: 41,977,811 (GRCm39)	S1168P	probably benign	Het
Csn1s2a	A	T	5: 87,934,569 (GRCm39)	T173S	unknown	Het
Dchs1	T	A	7: 105,404,604 (GRCm39)	D2646V	probably damaging	Het
Dennd4a	C	T	9: 64,749,843 (GRCm39)	R145*	probably null	Het
Dnah7a	G	T	1: 53,657,227 (GRCm39)	R850S	possibly damaging	Het
Dock2	T	C	11: 34,596,668 (GRCm39)	D396G	probably damaging	Het
E2f7	A	G	10: 110,614,955 (GRCm39)	Y553C	probably benign	Het
Elf2	A	G	3: 51,215,521 (GRCm39)	M63T	probably damaging	Het
Hydin	A	C	8: 111,316,154 (GRCm39)	T4349P	possibly damaging	Het
Kcnk13	T	A	12: 100,027,257 (GRCm39)		probably benign	Het
Nr1h5	T	A	3: 102,856,395 (GRCm39)	I295L	probably benign	Het
Or9s23	A	T	1: 92,501,051 (GRCm39)	I53F	probably benign	Het
Ptprk	A	G	10: 28,449,383 (GRCm39)	H986R	probably damaging	Het
Rufy1	T	A	11: 50,307,071 (GRCm39)	R300*	probably null	Het
Sfxn4	C	A	19: 60,847,172 (GRCm39)	S37I	probably damaging	Het
Slc12a9	A	T	5: 137,325,627 (GRCm39)		probably benign	Het
Slc37a1	T	C	17: 31,541,180 (GRCm39)	I224T	possibly damaging	Het
Stard9	A	G	2: 120,536,927 (GRCm39)	K4233E	possibly damaging	Het
Trp53bp1	A	T	2: 121,046,377 (GRCm39)	M1141K	probably benign	Het
Ttn	T	C	2: 76,612,011 (GRCm39)	D17297G	probably damaging	Het
Vmn1r12	T	C	6: 57,136,649 (GRCm39)	Y205H	probably damaging	Het
Vmn1r77	A	G	7: 11,775,358 (GRCm39)	K45E	probably damaging	Het
Vmn2r129	T	C	4: 156,685,614 (GRCm39)		noncoding transcript	Het
Vps13a	T	C	19: 16,596,807 (GRCm39)	T3104A	probably benign	Het

Other mutations in Slc6a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00800:Slc6a6	APN	6	91,718,151 (GRCm39)	intron	probably benign
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

2014-02-04