Incidental Mutation 'IGL02555:Slc6a6'
ID 298487
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 # IGL02555
Quality Score
Status
Chromosome 6
Chromosomal Location 91661031-91736044 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 91725311 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000032185]
AlphaFold O35316
Predicted Effect probably benign
Transcript: ENSMUST00000032185
SMART Domains Protein: ENSMUSP00000032185
Gene: ENSMUSG00000030096

DomainStartEndE-ValueType
Pfam:SNF 41 568 1.2e-241 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205477
Predicted Effect probably benign
Transcript: ENSMUST00000205663
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206988
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr1b G A 1: 36,740,828 (GRCm39) R199C probably damaging Het
Adam34l A T 8: 44,078,305 (GRCm39) C640S probably damaging Het
Adam9 T C 8: 25,456,752 (GRCm39) N661D probably damaging Het
Amy1 C T 3: 113,358,541 (GRCm39) E164K probably benign Het
Arid5b A C 10: 67,937,734 (GRCm39) D221E probably benign Het
B3galt1 G T 2: 67,948,905 (GRCm39) V207F probably benign Het
Begain A G 12: 109,000,115 (GRCm39) S219P probably damaging Het
Clip1 A G 5: 123,759,857 (GRCm39) probably null Het
Cps1 A G 1: 67,253,180 (GRCm39) K1224R probably benign Het
Dnm1 A G 2: 32,218,050 (GRCm39) Y449H probably damaging Het
Epas1 A T 17: 87,136,492 (GRCm39) M755L probably benign Het
F13b T C 1: 139,444,924 (GRCm39) C525R probably damaging Het
Fmnl2 A G 2: 53,016,863 (GRCm39) probably null Het
Ighv5-15 A G 12: 113,790,735 (GRCm39) F3L probably benign Het
Inpp4a A G 1: 37,419,049 (GRCm39) Q538R possibly damaging Het
Insrr A T 3: 87,721,124 (GRCm39) M1092L probably damaging Het
Itgb8 C T 12: 119,153,616 (GRCm39) V300M probably damaging Het
Kcnk5 A T 14: 20,192,053 (GRCm39) H369Q probably benign Het
Ly6m G T 15: 74,753,457 (GRCm39) probably benign Het
Or1m1 T A 9: 18,666,769 (GRCm39) H54L probably benign Het
Or4a76 G A 2: 89,460,547 (GRCm39) R232C probably damaging Het
Or4k44 A G 2: 111,368,262 (GRCm39) V124A probably damaging Het
Or5m10 G A 2: 85,717,742 (GRCm39) M199I probably benign Het
Plxdc2 A G 2: 16,734,152 (GRCm39) I417M probably benign Het
Polr1a G A 6: 71,897,441 (GRCm39) E186K probably damaging Het
Ppp3cb A T 14: 20,581,021 (GRCm39) F134L probably damaging Het
Prox2 C T 12: 85,142,034 (GRCm39) W56* probably null Het
Scaf4 C T 16: 90,047,193 (GRCm39) A395T unknown Het
Sh3tc2 G T 18: 62,123,308 (GRCm39) A690S probably damaging Het
Slc34a1 T C 13: 55,548,981 (GRCm39) S144P possibly damaging Het
Tubgcp3 A T 8: 12,689,595 (GRCm39) M557K probably benign Het
Vmn2r103 A T 17: 20,031,873 (GRCm39) D549V probably damaging Het
Washc2 T A 6: 116,186,061 (GRCm39) N90K probably damaging Het
Other mutations in Slc6a6
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2015-04-16