Incidental Mutation 'IGL01896:Slc6a6'
ID179390
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc6a6
Ensembl Gene ENSMUSG00000030096
Gene Namesolute carrier family 6 (neurotransmitter transporter, taurine), member 6
SynonymsTaut
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01896
Quality Score
Status
Chromosome6
Chromosomal Location91684053-91759066 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 91726069 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 141 (I141T)
Ref Sequence ENSEMBL: ENSMUSP00000032185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032185] [ENSMUST00000205480] [ENSMUST00000205828] [ENSMUST00000206545]
Predicted Effect probably damaging
Transcript: ENSMUST00000032185
AA Change: I141T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032185
Gene: ENSMUSG00000030096
AA Change: I141T

DomainStartEndE-ValueType
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
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,225,158 F509Y possibly damaging Het
Acot11 T A 4: 106,771,367 I75F probably damaging Het
Atp1a2 T A 1: 172,286,011 N427Y probably damaging Het
Cd19 T C 7: 126,414,350 D89G possibly damaging Het
Clca1 T A 3: 145,015,677 T378S possibly damaging Het
Cltc A T 11: 86,725,133 C436S probably damaging Het
Def8 G A 8: 123,459,895 V429M probably benign Het
Dnah9 A T 11: 66,130,666 D311E possibly damaging Het
Dpy19l4 T C 4: 11,267,752 K396R possibly damaging Het
Eif4b T C 15: 102,095,286 S597P probably benign Het
Ezh1 A T 11: 101,213,755 N155K probably benign Het
Glud1 A G 14: 34,319,905 S157G probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm5600 T C 7: 113,707,984 noncoding transcript Het
Hnf4g T A 3: 3,651,410 V298E probably damaging Het
Hspd1 C T 1: 55,079,109 R446Q probably benign Het
Lyst A G 13: 13,635,577 I611V probably benign Het
Map4k3 T C 17: 80,613,931 E524G probably benign Het
Mepe A G 5: 104,338,269 D425G possibly damaging Het
Myo1a G T 10: 127,719,904 V921L probably benign Het
Plxdc1 A T 11: 97,924,582 M470K probably damaging Het
Prim1 A G 10: 128,022,889 Y222C probably damaging Het
Ptpn13 A G 5: 103,501,523 N264S possibly damaging Het
Qrsl1 T C 10: 43,876,504 D441G probably benign Het
Samd9l G T 6: 3,375,120 Q714K probably benign Het
Scrib T C 15: 76,066,118 E293G possibly damaging Het
Slc12a2 T A 18: 57,896,308 N255K probably benign Het
Slc9a1 T C 4: 133,418,059 L485P probably damaging Het
Slfn8 A T 11: 83,003,696 Y706N probably damaging Het
Tlr5 T C 1: 182,974,879 F583L possibly damaging Het
Tmprss15 A G 16: 79,090,790 V43A probably benign Het
Ttc24 T C 3: 88,070,413 probably null Het
Ttc7 A G 17: 87,359,124 T606A probably damaging Het
Ubap2 G T 4: 41,202,362 P689T possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wfdc8 A T 2: 164,605,780 M120K probably damaging Het
Other mutations in Slc6a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00800:Slc6a6 APN 6 91741170 intron probably benign
IGL01829:Slc6a6 APN 6 91735189 missense probably damaging 1.00
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
durango UTSW 6 91723471 missense probably damaging 1.00
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
X0002:Slc6a6 UTSW 6 91723476 missense probably damaging 1.00
X0063:Slc6a6 UTSW 6 91741224 missense probably damaging 1.00
Posted On2014-05-07