Mutagenetix > Incidental Mutation

Incidental Mutation 'R3403:Slc6a6'

259253

Institutional Source

Beutler Lab

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 #

R3403 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91661031-91736044 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91703110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 161 (H161R)

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: H161R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032185
Gene: ENSMUSG00000030096
AA Change: H161R

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

silent
Transcript: ENSMUST00000205663

Predicted Effect

probably benign
Transcript: ENSMUST00000205828

Predicted Effect

probably benign
Transcript: ENSMUST00000206545

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206835

Meta Mutation Damage Score

0.0694

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.4%

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	T	C	1: 78,673,839 (GRCm39)	V333A	probably damaging	Het
Afdn	C	T	17: 14,104,176 (GRCm39)	R1156C	probably damaging	Het
Asic3	A	G	5: 24,621,985 (GRCm39)	E415G	probably damaging	Het
Cactin	G	A	10: 81,161,709 (GRCm39)	R747H	probably benign	Het
Calcr	T	A	6: 3,687,604 (GRCm39)	I465F	probably benign	Het
Dennd4c	C	T	4: 86,692,780 (GRCm39)	P97S	probably damaging	Het
Dnah3	A	G	7: 119,566,879 (GRCm39)	V2449A	probably benign	Het
Dsg1c	A	G	18: 20,403,407 (GRCm39)	N189D	probably damaging	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Ndrg3	C	T	2: 156,790,208 (GRCm39)	V92M	probably damaging	Het
Or5ac20	G	C	16: 59,104,475 (GRCm39)	N128K	probably benign	Het
Pacs2	T	C	12: 113,014,570 (GRCm39)	S214P	probably damaging	Het
Rad51	T	A	2: 118,951,025 (GRCm39)		probably benign	Het
Rtn4	T	C	11: 29,657,690 (GRCm39)	S499P	probably benign	Het
Tma16	C	T	8: 66,936,823 (GRCm39)		probably null	Het
Tmem74	C	T	15: 43,730,417 (GRCm39)	V209M	probably damaging	Het
Unc80	A	T	1: 66,549,845 (GRCm39)	E701V	probably damaging	Het
Upk3a	T	C	15: 84,902,384 (GRCm39)		probably null	Het
Zhx1	T	C	15: 57,917,745 (GRCm39)	E167G	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTGTTGAGATGGCCCCTTTG -3'
(R):5'- GGAAGATACTGTCCCCTCTTG -3'

Sequencing Primer
(F):5'- TCAGTGCCTCCCCAGTTGAAAG -3'
(R):5'- GAAGATACTGTCCCCTCTTGACCTG -3'

Posted On

2015-01-23