Mutagenetix > Incidental Mutation

Incidental Mutation 'R1503:Slc6a6'

169438

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

039553-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1503 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91661031-91736044 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91717973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 304 (I304N)

Ref Sequence

ENSEMBL: ENSMUSP00000032185 (fasta)

Gene Model

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

AlphaFold

O35316

Predicted Effect

probably damaging
Transcript: ENSMUST00000032185
AA Change: I304N

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

SMART Domains

Protein: ENSMUSP00000032185
Gene: ENSMUSG00000030096
AA Change: I304N

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

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.0%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Atf7ip	G	T	6: 136,583,865 (GRCm39)	V1299L	probably damaging	Het
Atp12a	A	T	14: 56,610,881 (GRCm39)	N342Y	probably damaging	Het
Atp8b5	G	A	4: 43,344,430 (GRCm39)	G439D	probably damaging	Het
Bpifb2	G	A	2: 153,731,430 (GRCm39)	D269N	possibly damaging	Het
Btd	T	G	14: 31,389,612 (GRCm39)	C444W	probably damaging	Het
Cacna1a	A	G	8: 85,328,575 (GRCm39)	D1624G	probably benign	Het
Carmil3	A	C	14: 55,735,737 (GRCm39)	N563T	probably damaging	Het
Cars1	T	C	7: 143,122,726 (GRCm39)	R538G	probably benign	Het
Catsperd	A	G	17: 56,961,525 (GRCm39)	K416E	possibly damaging	Het
Cc2d2a	A	T	5: 43,852,581 (GRCm39)	Y386F	probably damaging	Het
Ccpg1	A	G	9: 72,906,760 (GRCm39)	N66S	probably benign	Het
Cd48	T	A	1: 171,523,415 (GRCm39)	L86H	probably damaging	Het
Cdan1	A	T	2: 120,560,056 (GRCm39)	H369Q	probably damaging	Het
Chil4	T	C	3: 106,113,350 (GRCm39)	D189G	probably benign	Het
Cit	T	A	5: 116,011,959 (GRCm39)	Y189N	possibly damaging	Het
Cntn3	G	A	6: 102,441,526 (GRCm39)	Q7*	probably null	Het
Csn1s2a	A	T	5: 87,923,658 (GRCm39)	I5F	possibly damaging	Het
Ctnnd1	C	T	2: 84,435,523 (GRCm39)		probably null	Het
Dmxl2	A	T	9: 54,354,272 (GRCm39)	Y391*	probably null	Het
Dnah12	T	C	14: 26,495,649 (GRCm39)	S1426P	probably damaging	Het
Dnhd1	T	G	7: 105,342,867 (GRCm39)	S1404A	possibly damaging	Het
Drosha	T	A	15: 12,848,159 (GRCm39)	C484S	probably benign	Het
Dsg4	A	T	18: 20,582,736 (GRCm39)	I125F	probably damaging	Het
Egfr	T	A	11: 16,819,301 (GRCm39)	M277K	possibly damaging	Het
Eml5	G	T	12: 98,797,433 (GRCm39)	L1059I	probably damaging	Het
Erbb4	G	T	1: 68,385,705 (GRCm39)	H295N	probably benign	Het
Etl4	T	G	2: 20,748,685 (GRCm39)	V139G	possibly damaging	Het
Fhip1a	T	A	3: 85,579,784 (GRCm39)	Y807F	possibly damaging	Het
Frem3	A	T	8: 81,413,647 (GRCm39)	E1969D	probably damaging	Het
Gdf3	T	A	6: 122,583,296 (GRCm39)	D357V	probably damaging	Het
Gimap8	T	A	6: 48,624,463 (GRCm39)		probably null	Het
Gml2	C	A	15: 74,693,201 (GRCm39)	S68*	probably null	Het
Gphn	A	G	12: 78,551,403 (GRCm39)	I248V	possibly damaging	Het
Greb1	A	T	12: 16,774,820 (GRCm39)	Y192*	probably null	Het
Hmbs	A	C	9: 44,248,729 (GRCm39)	L215W	probably benign	Het
Iglon5	T	A	7: 43,128,449 (GRCm39)	T123S	probably benign	Het
Ints2	C	T	11: 86,117,607 (GRCm39)	R705H	probably damaging	Het
Ints8	A	T	4: 11,245,842 (GRCm39)	L212Q	probably damaging	Het
Itgad	A	G	7: 127,797,293 (GRCm39)	Y846C	probably benign	Het
Kcnj1	A	G	9: 32,307,788 (GRCm39)	T51A	probably damaging	Het
Kif9	A	T	9: 110,339,506 (GRCm39)	K449N	possibly damaging	Het
Kifbp	A	G	10: 62,395,187 (GRCm39)	V485A	probably damaging	Het
Klk1b11	G	A	7: 43,428,333 (GRCm39)	W241*	probably null	Het
Krt32	T	C	11: 99,974,936 (GRCm39)		probably null	Het
Loxl1	A	G	9: 58,200,923 (GRCm39)	F513S	probably damaging	Het
Mapk8ip3	A	T	17: 25,123,897 (GRCm39)	S571T	probably damaging	Het
Mcam	C	T	9: 44,052,588 (GRCm39)	R606C	probably damaging	Het
Mtss1	T	C	15: 58,823,521 (GRCm39)	N282S	probably damaging	Het
Myh13	T	A	11: 67,244,500 (GRCm39)	D1012E	probably benign	Het
Myo16	A	G	8: 10,552,817 (GRCm39)	T952A	probably benign	Het
Neb	T	C	2: 52,188,632 (GRCm39)	D874G	probably damaging	Het
Nek11	A	G	9: 105,040,403 (GRCm39)	Y553H	probably damaging	Het
Nr2c2	T	A	6: 92,082,312 (GRCm39)	V9D	probably benign	Het
Nxf1	T	A	19: 8,739,800 (GRCm39)	F51L	probably benign	Het
Or1e1f	T	G	11: 73,855,394 (GRCm39)		probably null	Het
Or1j15	A	T	2: 36,458,885 (GRCm39)	I92F	probably damaging	Het
Or2aj5	A	G	16: 19,425,062 (GRCm39)	S119P	probably benign	Het
Or4c35	T	C	2: 89,808,872 (GRCm39)	V250A	probably damaging	Het
Or5bw2	A	G	7: 6,573,470 (GRCm39)	N160S	probably damaging	Het
Or6s1	A	G	14: 51,308,191 (GRCm39)	S220P	probably damaging	Het
Or6z6	T	C	7: 6,491,178 (GRCm39)	I232V	probably damaging	Het
Pcdhb8	A	T	18: 37,489,572 (GRCm39)	N76Y	probably damaging	Het
Pdzrn4	T	A	15: 92,297,685 (GRCm39)	F217I	probably damaging	Het
Ppp1r16a	T	A	15: 76,578,599 (GRCm39)	H434Q	probably benign	Het
Prpf19	T	A	19: 10,878,386 (GRCm39)	F291I	possibly damaging	Het
R3hdm2	G	T	10: 127,307,695 (GRCm39)	E319*	probably null	Het
Sel1l3	A	G	5: 53,295,271 (GRCm39)	Y777H	probably damaging	Het
Serpinb5	G	A	1: 106,798,019 (GRCm39)	A3T	possibly damaging	Het
Skp2	C	A	15: 9,127,998 (GRCm39)	V88F	probably damaging	Het
Slc25a16	T	C	10: 62,764,155 (GRCm39)	Y71H	probably damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Sox17	C	A	1: 4,562,151 (GRCm39)	G222C	probably damaging	Het
Trmu	T	A	15: 85,779,220 (GRCm39)	V289E	possibly damaging	Het
Vdac2	A	G	14: 21,887,945 (GRCm39)	E96G	probably damaging	Het
Wdhd1	A	T	14: 47,484,857 (GRCm39)	D885E	probably benign	Het
Zfp646	A	G	7: 127,479,308 (GRCm39)	N495S	probably damaging	Het
Zfp663	T	C	2: 165,194,573 (GRCm39)	T549A	probably damaging	Het
Zfp935	G	A	13: 62,602,951 (GRCm39)	A83V	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- GGACCGTGGCAACTTAGCAATAGAC -3'
(R):5'- TTCAGGCATCCCAGCAGCATACAG -3'

Sequencing Primer
(F):5'- TACTGGTCACTCCAGAGTTAGAG -3'
(R):5'- TAAGTTACACACACGTCAGGG -3'

Posted On

2014-04-13