Incidental Mutation 'IGL01160:Slc7a8'
ID53951
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc7a8
Ensembl Gene ENSMUSG00000022180
Gene Namesolute carrier family 7 (cationic amino acid transporter, y+ system), member 8
SynonymsLAT2
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.537) question?
Stock #IGL01160
Quality Score
Status
Chromosome14
Chromosomal Location54722209-54781946 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 54735124 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 280 (V280A)
Ref Sequence ENSEMBL: ENSMUSP00000022787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022787]
Predicted Effect probably benign
Transcript: ENSMUST00000022787
AA Change: V280A

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000022787
Gene: ENSMUSG00000022180
AA Change: V280A

DomainStartEndE-ValueType
low complexity region 23 32 N/A INTRINSIC
Pfam:AA_permease_2 39 463 8.9e-72 PFAM
Pfam:AA_permease 44 469 5.2e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226646
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted mutation display hypoactivity, decreased motor performance, and resistance to pharmacologically induced seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210016F16Rik A G 13: 58,381,976 V274A probably damaging Het
Atp11a A G 8: 12,844,609 T188A probably damaging Het
Bfsp2 A G 9: 103,480,168 V20A probably benign Het
Btn1a1 G A 13: 23,461,737 T154M possibly damaging Het
Ccdc117 T C 11: 5,531,532 S200G probably benign Het
Col24a1 G A 3: 145,507,713 G1358S probably damaging Het
Crlf2 T C 5: 109,557,570 T40A possibly damaging Het
Cstf2 T A X: 134,060,729 probably benign Het
Dcdc2a A G 13: 25,119,329 D281G probably benign Het
Dmd T C X: 83,924,961 L1855P probably damaging Het
Dnajc5g T C 5: 31,110,185 V112A probably benign Het
Dnmt1 G A 9: 20,917,319 P828S possibly damaging Het
Dock3 A T 9: 106,906,688 S268R probably damaging Het
Dpep2 C T 8: 105,986,444 V440M possibly damaging Het
F8 A T X: 75,288,061 M741K probably damaging Het
Fermt3 C T 19: 7,003,258 probably null Het
Fosb A G 7: 19,307,114 probably null Het
Gm14085 A C 2: 122,524,796 probably null Het
Gm3238 C A 10: 77,770,883 probably benign Het
Hyal5 T A 6: 24,876,481 S118T possibly damaging Het
Igf2r T C 17: 12,704,775 D1140G possibly damaging Het
Ighmbp2 G T 19: 3,276,750 probably benign Het
Irf3 C A 7: 44,998,796 D28E possibly damaging Het
Ly6i A T 15: 74,980,032 I96N possibly damaging Het
Macrod2 T C 2: 140,825,042 probably benign Het
Olfr1222 A T 2: 89,125,728 M1K probably null Het
Olfr124 A G 17: 37,806,050 R302G probably benign Het
Olfr1309 A G 2: 111,983,933 L47P probably damaging Het
Olfr67 C T 7: 103,787,636 G214R probably damaging Het
Otof A T 5: 30,381,535 M1128K probably benign Het
Parp9 A T 16: 35,947,998 I183F probably damaging Het
Pbsn T C X: 77,842,571 N147S probably benign Het
Pcf11 A G 7: 92,661,686 S365P possibly damaging Het
Pcnx4 T G 12: 72,579,377 V1119G probably damaging Het
Rsf1 C T 7: 97,685,584 T1308M probably damaging Het
Sidt2 A G 9: 45,942,726 L647P probably damaging Het
Spg20 T A 3: 55,121,756 F323I probably damaging Het
Supt16 A T 14: 52,183,132 D70E probably benign Het
Tmc4 T C 7: 3,675,518 Y38C possibly damaging Het
Tmco5b G T 2: 113,287,798 probably benign Het
Trav10 G A 14: 53,505,782 probably benign Het
Vmn2r28 A T 7: 5,486,478 M454K probably damaging Het
Vmn2r85 T C 10: 130,418,821 T665A probably benign Het
Yipf7 T C 5: 69,519,317 I160V probably benign Het
Zc3h18 T C 8: 122,408,250 probably benign Het
Zfp429 G A 13: 67,391,013 S91L probably damaging Het
Other mutations in Slc7a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01366:Slc7a8 APN 14 54781188 missense probably damaging 1.00
R0582:Slc7a8 UTSW 14 54758444 missense probably damaging 1.00
R0724:Slc7a8 UTSW 14 54735186 splice site probably benign
R1122:Slc7a8 UTSW 14 54724107 missense probably benign
R1468:Slc7a8 UTSW 14 54733199 missense probably damaging 1.00
R1468:Slc7a8 UTSW 14 54733199 missense probably damaging 1.00
R1667:Slc7a8 UTSW 14 54724849 missense probably damaging 1.00
R2878:Slc7a8 UTSW 14 54759686 missense probably damaging 1.00
R3826:Slc7a8 UTSW 14 54737572 missense probably damaging 1.00
R3938:Slc7a8 UTSW 14 54735841 missense probably benign 0.01
R4513:Slc7a8 UTSW 14 54735790 missense possibly damaging 0.94
R4514:Slc7a8 UTSW 14 54735790 missense possibly damaging 0.94
R4524:Slc7a8 UTSW 14 54737602 missense probably damaging 1.00
R4544:Slc7a8 UTSW 14 54735790 missense possibly damaging 0.94
R4546:Slc7a8 UTSW 14 54735790 missense possibly damaging 0.94
R5179:Slc7a8 UTSW 14 54724832 nonsense probably null
R5395:Slc7a8 UTSW 14 54733277 nonsense probably null
R6144:Slc7a8 UTSW 14 54729340 missense probably damaging 1.00
R6537:Slc7a8 UTSW 14 54735119 missense probably benign 0.03
R7337:Slc7a8 UTSW 14 54726806 missense possibly damaging 0.67
R7404:Slc7a8 UTSW 14 54726826 missense probably damaging 1.00
R7597:Slc7a8 UTSW 14 54781400 start gained probably benign
R8188:Slc7a8 UTSW 14 54735122 missense probably benign 0.00
Posted On2013-06-28