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

91684053-91759066 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91740992 bp (GRCm38)

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: 57,338,562	M5V	probably benign	Het
Atf7ip	G	T	6: 136,606,867	V1299L	probably damaging	Het
Atp12a	A	T	14: 56,373,424	N342Y	probably damaging	Het
Atp8b5	G	A	4: 43,344,430	G439D	probably damaging	Het
Bpifb2	G	A	2: 153,889,510	D269N	possibly damaging	Het
Btd	T	G	14: 31,667,655	C444W	probably damaging	Het
Cacna1a	A	G	8: 84,601,946	D1624G	probably benign	Het
Carmil3	A	C	14: 55,498,280	N563T	probably damaging	Het
Cars	T	C	7: 143,568,989	R538G	probably benign	Het
Catsperd	A	G	17: 56,654,525	K416E	possibly damaging	Het
Cc2d2a	A	T	5: 43,695,239	Y386F	probably damaging	Het
Ccpg1	A	G	9: 72,999,478	N66S	probably benign	Het
Cd48	T	A	1: 171,695,847	L86H	probably damaging	Het
Cdan1	A	T	2: 120,729,575	H369Q	probably damaging	Het
Chil4	T	C	3: 106,206,034	D189G	probably benign	Het
Cit	T	A	5: 115,873,900	Y189N	possibly damaging	Het
Cntn3	G	A	6: 102,464,565	Q7*	probably null	Het
Csn1s2a	A	T	5: 87,775,799	I5F	possibly damaging	Het
Ctnnd1	C	T	2: 84,605,179		probably null	Het
Dmxl2	A	T	9: 54,446,988	Y391*	probably null	Het
Dnah12	T	C	14: 26,773,692	S1426P	probably damaging	Het
Dnhd1	T	G	7: 105,693,660	S1404A	possibly damaging	Het
Drosha	T	A	15: 12,848,073	C484S	probably benign	Het
Dsg4	A	T	18: 20,449,679	I125F	probably damaging	Het
Egfr	T	A	11: 16,869,301	M277K	possibly damaging	Het
Eml5	G	T	12: 98,831,174	L1059I	probably damaging	Het
Erbb4	G	T	1: 68,346,546	H295N	probably benign	Het
Etl4	T	G	2: 20,743,874	V139G	possibly damaging	Het
Fam160a1	T	A	3: 85,672,477	Y807F	possibly damaging	Het
Frem3	A	T	8: 80,687,018	E1969D	probably damaging	Het
Gdf3	T	A	6: 122,606,337	D357V	probably damaging	Het
Gimap8	T	A	6: 48,647,529		probably null	Het
Gml2	C	A	15: 74,821,352	S68*	probably null	Het
Gphn	A	G	12: 78,504,629	I248V	possibly damaging	Het
Greb1	A	T	12: 16,724,819	Y192*	probably null	Het
Hmbs	A	C	9: 44,337,432	L215W	probably benign	Het
Iglon5	T	A	7: 43,479,025	T123S	probably benign	Het
Ints2	C	T	11: 86,226,781	R705H	probably damaging	Het
Ints8	A	T	4: 11,245,842	L212Q	probably damaging	Het
Itgad	A	G	7: 128,198,121	Y846C	probably benign	Het
Kcnj1	A	G	9: 32,396,492	T51A	probably damaging	Het
Kif1bp	A	G	10: 62,559,408	V485A	probably damaging	Het
Kif9	A	T	9: 110,510,438	K449N	possibly damaging	Het
Klk11	G	A	7: 43,778,909	W241*	probably null	Het
Krt32	T	C	11: 100,084,110		probably null	Het
Loxl1	A	G	9: 58,293,640	F513S	probably damaging	Het
Mapk8ip3	A	T	17: 24,904,923	S571T	probably damaging	Het
Mcam	C	T	9: 44,141,291	R606C	probably damaging	Het
Mtss1	T	C	15: 58,951,672	N282S	probably damaging	Het
Myh13	T	A	11: 67,353,674	D1012E	probably benign	Het
Myo16	A	G	8: 10,502,817	T952A	probably benign	Het
Neb	T	C	2: 52,298,620	D874G	probably damaging	Het
Nek11	A	G	9: 105,163,204	Y553H	probably damaging	Het
Nr2c2	T	A	6: 92,105,331	V9D	probably benign	Het
Nxf1	T	A	19: 8,762,436	F51L	probably benign	Het
Olfr1260	T	C	2: 89,978,528	V250A	probably damaging	Het
Olfr1347	T	C	7: 6,488,179	I232V	probably damaging	Het
Olfr1350	A	G	7: 6,570,471	N160S	probably damaging	Het
Olfr170	A	G	16: 19,606,312	S119P	probably benign	Het
Olfr344	A	T	2: 36,568,873	I92F	probably damaging	Het
Olfr397	T	G	11: 73,964,568		probably null	Het
Olfr750	A	G	14: 51,070,734	S220P	probably damaging	Het
Pcdhb8	A	T	18: 37,356,519	N76Y	probably damaging	Het
Pdzrn4	T	A	15: 92,399,804	F217I	probably damaging	Het
Ppp1r16a	T	A	15: 76,694,399	H434Q	probably benign	Het
Prpf19	T	A	19: 10,901,022	F291I	possibly damaging	Het
R3hdm2	G	T	10: 127,471,826	E319*	probably null	Het
Sel1l3	A	G	5: 53,137,929	Y777H	probably damaging	Het
Serpinb5	G	A	1: 106,870,289	A3T	possibly damaging	Het
Skp2	C	A	15: 9,127,911	V88F	probably damaging	Het
Slc25a16	T	C	10: 62,928,376	Y71H	probably damaging	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Sox17	C	A	1: 4,491,928	G222C	probably damaging	Het
Trmu	T	A	15: 85,895,019	V289E	possibly damaging	Het
Vdac2	A	G	14: 21,837,877	E96G	probably damaging	Het
Wdhd1	A	T	14: 47,247,400	D885E	probably benign	Het
Zfp646	A	G	7: 127,880,136	N495S	probably damaging	Het
Zfp663	T	C	2: 165,352,653	T549A	probably damaging	Het
Zfp935	G	A	13: 62,455,137	A83V	possibly 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
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
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
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

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