Incidental Mutation 'R4332:Slc6a6'
ID 323625
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 041099-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4332 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 91661031-91736044 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 91700452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 60 (G60D)
Ref Sequence ENSEMBL: ENSMUSP00000146306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032185] [ENSMUST00000205480] [ENSMUST00000205828] [ENSMUST00000206545]
AlphaFold O35316
Predicted Effect probably damaging
Transcript: ENSMUST00000032185
AA Change: G60D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032185
Gene: ENSMUSG00000030096
AA Change: G60D

DomainStartEndE-ValueType
Pfam:SNF 41 568 1.2e-241 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205443
Predicted Effect probably damaging
Transcript: ENSMUST00000205480
AA Change: G60D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000205663
Predicted Effect probably damaging
Transcript: ENSMUST00000205828
AA Change: G60D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000206545
AA Change: G60D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206835
Meta Mutation Damage Score 0.8201 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (56/57)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik T C 8: 106,436,356 (GRCm39) I175T possibly damaging Het
A2m A G 6: 121,634,406 (GRCm39) D646G probably benign Het
Acat2 T C 17: 13,181,782 (GRCm39) probably benign Het
Armc10 T A 5: 21,866,579 (GRCm39) V281E probably damaging Het
Best3 T A 10: 116,838,429 (GRCm39) F162L probably benign Het
Ces1g T C 8: 94,046,446 (GRCm39) M360V probably benign Het
Chd7 G T 4: 8,854,143 (GRCm39) R1905L probably damaging Het
Dhx36 C T 3: 62,392,412 (GRCm39) R538Q probably damaging Het
Efna2 G A 10: 80,024,315 (GRCm39) R161Q probably damaging Het
Farsb T C 1: 78,445,903 (GRCm39) T159A possibly damaging Het
Fry C T 5: 150,305,128 (GRCm39) A611V probably damaging Het
Fsip2 A G 2: 82,808,201 (GRCm39) T1507A probably benign Het
Gm5592 G T 7: 40,865,542 (GRCm39) probably benign Het
Gm7367 T C 7: 59,805,364 (GRCm39) noncoding transcript Het
Gm9312 A T 12: 24,302,095 (GRCm39) noncoding transcript Het
Gmfg A T 7: 28,136,997 (GRCm39) M1L probably benign Het
Gpr149 C A 3: 62,511,794 (GRCm39) L68F possibly damaging Het
Hmga2 T C 10: 120,200,117 (GRCm39) probably benign Het
Il12a C A 3: 68,602,594 (GRCm39) probably benign Het
Itprid1 G A 6: 55,945,220 (GRCm39) G647D possibly damaging Het
Itsn2 T A 12: 4,762,611 (GRCm39) M1597K possibly damaging Het
Kyat3 A G 3: 142,431,187 (GRCm39) I154M probably damaging Het
Npas3 A C 12: 54,108,852 (GRCm39) I419L probably damaging Het
Ogfrl1 T A 1: 23,414,910 (GRCm39) Y199F probably damaging Het
Or14a259 A C 7: 86,013,080 (GRCm39) V155G probably benign Het
Or5aq7 A G 2: 86,938,089 (GRCm39) V214A possibly damaging Het
Or6b6 T C 7: 106,571,354 (GRCm39) M66V probably benign Het
P2rx3 G A 2: 84,855,205 (GRCm39) P84S probably benign Het
P3h3 A G 6: 124,819,099 (GRCm39) V657A probably damaging Het
Pabpc2 A G 18: 39,908,393 (GRCm39) M553V probably benign Het
Pcdhb1 T C 18: 37,398,583 (GRCm39) F178S probably damaging Het
Plppr4 A T 3: 117,116,474 (GRCm39) M403K probably benign Het
Ralgapa2 G A 2: 146,102,288 (GRCm39) T1956M probably benign Het
Rbm12b1 G T 4: 12,145,655 (GRCm39) K542N probably benign Het
Rdh8 C T 9: 20,733,925 (GRCm39) A37V probably damaging Het
Rnf213 A G 11: 119,327,502 (GRCm39) T1830A probably damaging Het
Sardh G T 2: 27,105,126 (GRCm39) Q666K possibly damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Septin4 T G 11: 87,458,730 (GRCm39) L368R possibly damaging Het
Serpinb11 G A 1: 107,297,294 (GRCm39) probably null Het
Tfr2 A G 5: 137,569,996 (GRCm39) D134G probably damaging Het
Tmprss15 T C 16: 78,831,222 (GRCm39) T378A probably benign Het
Tmprss7 T G 16: 45,506,690 (GRCm39) K124T probably benign Het
Urb1 A G 16: 90,571,425 (GRCm39) L1128P probably damaging Het
Usp32 C T 11: 84,994,804 (GRCm39) C36Y possibly damaging Het
Vmn2r50 T A 7: 9,786,922 (GRCm39) T62S probably benign Het
Zfp110 T A 7: 12,578,498 (GRCm39) Y136* probably null 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
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
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
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'- CTTAAGTCACTGGGGAAGGC -3'
(R):5'- ATGCTGACCCTGTGTCTGAG -3'

Sequencing Primer
(F):5'- GTTGTTCTTCCTCCAACAGAAAACG -3'
(R):5'- GACCCTGTGTCTGAGGTACATC -3'
Posted On 2015-06-24