Incidental Mutation 'IGL03082:Slc7a6'
ID417895
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc7a6
Ensembl Gene ENSMUSG00000031904
Gene Namesolute carrier family 7 (cationic amino acid transporter, y+ system), member 6
SynonymsLAT-2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.397) question?
Stock #IGL03082
Quality Score
Status
Chromosome8
Chromosomal Location106168857-106198706 bp(+) (GRCm38)
Type of Mutationunclassified (4 bp from exon)
DNA Base Change (assembly) A to G at 106193222 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034378] [ENSMUST00000211824] [ENSMUST00000212377] [ENSMUST00000212421]
Predicted Effect probably damaging
Transcript: ENSMUST00000034378
AA Change: Y289C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034378
Gene: ENSMUSG00000031904
AA Change: Y289C

DomainStartEndE-ValueType
Pfam:AA_permease_2 45 467 1.2e-66 PFAM
Pfam:AA_permease 50 471 2.1e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000211824
Predicted Effect probably benign
Transcript: ENSMUST00000212377
Predicted Effect probably null
Transcript: ENSMUST00000212421
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212837
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213020
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asic1 T A 15: 99,696,547 N324K probably benign Het
Atpaf2 T C 11: 60,403,844 E251G probably damaging Het
Cacna1d T C 14: 30,099,233 K1109E probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Chst1 C T 2: 92,613,933 T250I possibly damaging Het
Cpne6 T C 14: 55,516,303 L406P probably damaging Het
Cryz A G 3: 154,604,926 M8V probably damaging Het
Dpysl2 T C 14: 66,808,010 E438G probably damaging Het
Elovl1 T C 4: 118,430,880 I71T probably benign Het
Eml2 T A 7: 19,201,877 Y679N probably damaging Het
Fam185a G A 5: 21,455,838 V284I possibly damaging Het
Fpgs C T 2: 32,685,757 W391* probably null Het
Hdac11 C T 6: 91,173,103 P295S probably damaging Het
Herc2 A T 7: 56,185,923 I3260F probably benign Het
Hltf G A 3: 20,064,559 probably benign Het
Immp2l T G 12: 41,110,901 V66G possibly damaging Het
Lrrc4c T C 2: 97,630,586 I519T probably benign Het
Megf8 A G 7: 25,330,236 T402A probably benign Het
Mttp T G 3: 138,123,795 I111L probably benign Het
Mycbp2 T A 14: 103,204,369 I1987F probably benign Het
Ncr1 T A 7: 4,341,242 probably benign Het
Nedd4 G A 9: 72,677,394 probably null Het
Nnt A G 13: 119,396,868 F87S probably damaging Het
Nol6 A G 4: 41,115,878 probably benign Het
Pdzd3 A T 9: 44,250,786 S39T possibly damaging Het
Pkhd1 A T 1: 20,565,633 I491N probably damaging Het
Plcxd2 T C 16: 45,965,110 I311V probably damaging Het
Pou2f3 C A 9: 43,146,915 probably null Het
Rgsl1 G A 1: 153,799,947 T836I possibly damaging Het
Rttn G A 18: 88,983,948 G328D probably damaging Het
Serpina11 T C 12: 103,986,301 E77G probably benign Het
Slc35f1 G A 10: 52,933,138 V74I probably benign Het
Smco2 A G 6: 146,860,044 T154A possibly damaging Het
Tcerg1 A G 18: 42,573,357 Y1033C probably damaging Het
Tmem87a A G 2: 120,397,366 F100S possibly damaging Het
Tssk4 T C 14: 55,651,061 F129S probably damaging Het
Wdr43 C T 17: 71,638,341 T315I probably damaging Het
Other mutations in Slc7a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00771:Slc7a6 APN 8 106179240 missense probably benign 0.01
IGL01149:Slc7a6 APN 8 106179600 missense probably damaging 0.96
IGL02232:Slc7a6 APN 8 106196574 missense possibly damaging 0.87
IGL02972:Slc7a6 APN 8 106179427 missense probably damaging 0.99
IGL03108:Slc7a6 APN 8 106194517 missense probably damaging 0.99
R0062:Slc7a6 UTSW 8 106189631 missense possibly damaging 0.79
R0062:Slc7a6 UTSW 8 106189632 missense probably damaging 0.97
R0325:Slc7a6 UTSW 8 106194517 missense probably damaging 0.99
R1803:Slc7a6 UTSW 8 106192456 missense possibly damaging 0.70
R1928:Slc7a6 UTSW 8 106193488 unclassified probably benign
R5912:Slc7a6 UTSW 8 106179657 missense probably benign
R6317:Slc7a6 UTSW 8 106192467 missense probably damaging 0.98
R6370:Slc7a6 UTSW 8 106195437 missense probably benign 0.44
R7030:Slc7a6 UTSW 8 106195974 missense possibly damaging 0.64
R7944:Slc7a6 UTSW 8 106179607 missense possibly damaging 0.65
R7945:Slc7a6 UTSW 8 106179607 missense possibly damaging 0.65
R8369:Slc7a6 UTSW 8 106193164 missense probably damaging 0.99
R8397:Slc7a6 UTSW 8 106193533 missense probably damaging 1.00
RF008:Slc7a6 UTSW 8 106195398 missense probably benign 0.13
Posted On2016-08-02