Mutagenetix > Incidental Mutations

Incidental Mutation 'R1327:Slc6a6'

157244

Institutional Source

Beutler Lab

Gene Symbol

Slc6a6

Ensembl Gene

ENSMUSG00000030096

Gene Name

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

Synonyms

Taut

MMRRC Submission

039393-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1327 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91684053-91759066 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91726035 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 130 (I130V)

Ref Sequence

ENSEMBL: ENSMUSP00000032185 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032185] [ENSMUST00000205480] [ENSMUST00000205828] [ENSMUST00000206545]

Predicted Effect

probably benign
Transcript: ENSMUST00000032185
AA Change: I130V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000032185
Gene: ENSMUSG00000030096
AA Change: I130V

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: ENSMUST00000205480

Predicted Effect

unknown
Transcript: ENSMUST00000205663
AA Change: H14R

Predicted Effect

probably benign
Transcript: ENSMUST00000205828

Predicted Effect

probably benign
Transcript: ENSMUST00000206545

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206835

Meta Mutation Damage Score

0.1708

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.8%
20x: 88.1%

Validation Efficiency

97% (38/39)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd3	T	C	1: 180,733,183	F99L	possibly damaging	Het
Arg1	T	C	10: 24,920,804		probably null	Het
Bsnd	C	T	4: 106,486,612	E166K	probably benign	Het
Cxcl9	A	G	5: 92,326,850	C30R	probably damaging	Het
Cyhr1	T	A	15: 76,649,176	T121S	probably damaging	Het
Ect2l	C	T	10: 18,165,542	R296H	probably benign	Het
Epha5	C	A	5: 84,106,785	D632Y	probably damaging	Het
Fbxw11	T	C	11: 32,711,859	Y79H	probably benign	Het
Fh1	A	G	1: 175,609,744	M263T	probably benign	Het
Gm14124	A	T	2: 150,266,150	H10L	possibly damaging	Het
Mrgprb1	A	T	7: 48,447,429	I245N	possibly damaging	Het
Ms4a13	A	T	19: 11,183,887	I96N	probably damaging	Het
Nipa2	G	A	7: 55,944,508	L38F	possibly damaging	Het
Pappa	T	A	4: 65,351,603		probably benign	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rnf111	A	T	9: 70,453,816	D454E	possibly damaging	Het
Rp1	C	T	1: 4,347,970	G973D	probably benign	Het
Rtn3	A	G	19: 7,431,011	V922A	possibly damaging	Het
Setbp1	T	C	18: 78,783,358	M1347V	probably benign	Het
Smad7	T	C	18: 75,375,945	S48P	probably benign	Het
Star	A	G	8: 25,809,837	D69G	probably benign	Het
Syne1	C	A	10: 5,048,925		probably benign	Het
Synj1	A	T	16: 90,946,855	N1212K	probably benign	Het
Tep1	T	C	14: 50,853,099	M721V	probably benign	Het
Txndc11	T	C	16: 11,116,814	D223G	possibly damaging	Het
Vit	G	A	17: 78,625,200	D579N	probably damaging	Het
Zan	T	C	5: 137,465,911		probably benign	Het
Zfp318	A	G	17: 46,413,263	E2064G	probably damaging	Het
Zic5	T	G	14: 122,459,779		probably benign	Het
Zzef1	T	C	11: 72,893,414		probably null	Het

Other mutations in Slc6a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00800:Slc6a6	APN	6	91741170	intron	probably benign
IGL01829:Slc6a6	APN	6	91735189	missense	probably damaging	1.00
IGL01896:Slc6a6	APN	6	91726069	missense	probably damaging	0.97
IGL02087:Slc6a6	APN	6	91735179	missense	probably benign
IGL02301:Slc6a6	APN	6	91726056	missense	probably benign	0.31
IGL02439:Slc6a6	APN	6	91749827	missense	probably damaging	0.99
IGL02555:Slc6a6	APN	6	91748330	unclassified	probably benign
animas	UTSW	6	91740014	splice site	probably null
durango	UTSW	6	91723471	missense	probably damaging	1.00
R0530:Slc6a6	UTSW	6	91724958	missense	probably null	0.04
R1503:Slc6a6	UTSW	6	91740992	missense	probably damaging	1.00
R1612:Slc6a6	UTSW	6	91741027	missense	probably damaging	1.00
R2033:Slc6a6	UTSW	6	91724910	missense	probably benign	0.12
R2146:Slc6a6	UTSW	6	91735180	missense	probably benign	0.05
R2309:Slc6a6	UTSW	6	91726196	missense	possibly damaging	0.63
R2434:Slc6a6	UTSW	6	91735212	missense	probably benign	0.33
R2656:Slc6a6	UTSW	6	91741048	missense	probably damaging	1.00
R3402:Slc6a6	UTSW	6	91726129	missense	probably benign
R3403:Slc6a6	UTSW	6	91726129	missense	probably benign
R3978:Slc6a6	UTSW	6	91755052	missense	probably benign	0.41
R4236:Slc6a6	UTSW	6	91741276	missense	probably damaging	0.98
R4332:Slc6a6	UTSW	6	91723471	missense	probably damaging	1.00
R4980:Slc6a6	UTSW	6	91726060	missense	probably damaging	1.00
R5326:Slc6a6	UTSW	6	91735189	missense	probably damaging	1.00
R5358:Slc6a6	UTSW	6	91735174	missense	probably benign	0.28
R5542:Slc6a6	UTSW	6	91735189	missense	probably damaging	1.00
R5774:Slc6a6	UTSW	6	91745000	missense	probably damaging	1.00
R5839:Slc6a6	UTSW	6	91723317	missense	probably damaging	1.00
R5861:Slc6a6	UTSW	6	91741033	missense	probably damaging	1.00
R5939:Slc6a6	UTSW	6	91754948	missense	probably benign	0.01
R6160:Slc6a6	UTSW	6	91740014	splice site	probably null
R6262:Slc6a6	UTSW	6	91755032	missense	possibly damaging	0.66
R6265:Slc6a6	UTSW	6	91754915	missense	probably damaging	0.99
R6665:Slc6a6	UTSW	6	91726039	missense	probably benign	0.38
R6998:Slc6a6	UTSW	6	91752438	missense	probably benign	0.21
R7057:Slc6a6	UTSW	6	91741267	missense	probably damaging	1.00
R7568:Slc6a6	UTSW	6	91724851	missense	probably damaging	1.00
R7768:Slc6a6	UTSW	6	91739965	missense	probably damaging	0.99
R8042:Slc6a6	UTSW	6	91741245	missense	not run
X0002:Slc6a6	UTSW	6	91723476	missense	probably damaging	1.00
X0063:Slc6a6	UTSW	6	91741224	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTGCACAGTCAGTGTCCTGACC -3'
(R):5'- AGACCCAGTGACTCTCGTTCCTAC -3'

Sequencing Primer
(F):5'- cagtGTCCTGACCCCACTTC -3'
(R):5'- GACTCTCGTTCCTACGCAGG -3'

Posted On

2014-02-18