Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02301:Slc6a6'

290286

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 #

IGL02301

Quality Score

Status

Chromosome

Chromosomal Location

91684053-91759066 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91726056 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 137 (Y137H)

Ref Sequence

ENSEMBL: ENSMUSP00000032185 (fasta)

Gene Model

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

AlphaFold

O35316

Predicted Effect

probably benign
Transcript: ENSMUST00000032185
AA Change: Y137H

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000032185
Gene: ENSMUSG00000030096
AA Change: Y137H

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: V21A

Predicted Effect

probably benign
Transcript: ENSMUST00000205828

Predicted Effect

probably benign
Transcript: ENSMUST00000206545

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206835

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap8l	A	G	17: 32,332,926		probably benign	Het
Alk	T	C	17: 71,874,176	Q1373R	probably damaging	Het
Atf7ip2	T	G	16: 10,211,047	S148A	probably benign	Het
Bpi	C	T	2: 158,274,814	S377F	probably damaging	Het
Ccni	A	T	5: 93,188,175	C122S	possibly damaging	Het
Cd5l	A	G	3: 87,365,993	R90G	probably benign	Het
Ceacam3	C	T	7: 17,163,101	S664F	probably damaging	Het
Clca3a2	A	T	3: 144,806,372	D534E	probably damaging	Het
Ep400	A	T	5: 110,674,960	S2524R	probably damaging	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Gart	A	G	16: 91,621,837		probably benign	Het
Gm9513	T	C	9: 36,477,187		probably benign	Het
Gsdmc4	A	G	15: 63,895,264	V219A	probably benign	Het
Hus1	T	C	11: 8,996,915	T261A	probably benign	Het
Lman2l	A	G	1: 36,443,543	I84T	probably damaging	Het
Megf8	G	A	7: 25,337,900	V742M	probably damaging	Het
Myo1d	A	G	11: 80,676,853	V267A	probably benign	Het
Notch2	A	G	3: 98,141,554	T1803A	probably benign	Het
Olfr1278	T	A	2: 111,292,697	M143K	probably benign	Het
Olfr23	T	A	11: 73,941,068	M274K	possibly damaging	Het
Olfr814	A	G	10: 129,874,079	F226S	probably damaging	Het
Pde5a	G	A	3: 122,760,885	R208Q	probably damaging	Het
Pla2r1	T	C	2: 60,452,436	N745S	probably benign	Het
Ptgdr2	T	A	19: 10,940,209	I30N	possibly damaging	Het
Rap1gap2	G	A	11: 74,407,369	T415I	probably damaging	Het
Sptbn1	A	T	11: 30,142,129	D532E	probably damaging	Het
Stk39	T	C	2: 68,211,962	D543G	probably damaging	Het
Trpc4	G	A	3: 54,291,232	V526M	probably damaging	Het
Trrap	A	G	5: 144,777,917	I100V	probably benign	Het
Vmn1r-ps123	A	C	13: 22,996,357		noncoding transcript	Het
Vwa5b2	G	A	16: 20,604,790	G1151D	probably damaging	Het
Zfp358	T	A	8: 3,496,858	I480N	probably benign	Het
Zfp423	T	C	8: 87,781,574	D714G	probably damaging	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
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
customary	UTSW	6	91726243	nonsense	probably null
durango	UTSW	6	91723471	missense	probably damaging	1.00
habit	UTSW	6	91740971	missense	probably damaging	1.00
R5861_Slc6a6_905	UTSW	6	91741033	missense	probably damaging	1.00
R6665_Slc6a6_931	UTSW	6	91726039	missense	probably benign	0.38
R0530:Slc6a6	UTSW	6	91724958	missense	probably null	0.04
R1327:Slc6a6	UTSW	6	91726035	missense	probably benign	0.00
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	probably benign	0.11
R8125:Slc6a6	UTSW	6	91726106	missense	probably damaging	0.97
R8194:Slc6a6	UTSW	6	91740971	missense	probably damaging	1.00
R8239:Slc6a6	UTSW	6	91724970	missense	probably benign	0.00
R8343:Slc6a6	UTSW	6	91726243	nonsense	probably null
R8363:Slc6a6	UTSW	6	91750296	missense	probably benign	0.03
R8836:Slc6a6	UTSW	6	91748463	missense	probably damaging	0.96
R9102:Slc6a6	UTSW	6	91754959	missense	probably benign	0.10
R9257:Slc6a6	UTSW	6	91739971	missense	possibly damaging	0.74
R9511:Slc6a6	UTSW	6	91744940	missense	probably damaging	1.00
R9526:Slc6a6	UTSW	6	91749827	missense	probably benign	0.02
R9701:Slc6a6	UTSW	6	91723497	missense	probably damaging	1.00
X0002:Slc6a6	UTSW	6	91723476	missense	probably damaging	1.00
X0063:Slc6a6	UTSW	6	91741224	missense	probably damaging	1.00

Posted On

2015-04-16