Incidental Mutation 'IGL00310:Slc7a15'
ID4442
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc7a15
Ensembl Gene ENSMUSG00000020600
Gene Namesolute carrier family 7 (cationic amino acid transporter, y+ system), member 15
Synonyms9030221C07Rik, 2010001P20Rik, Arpat
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.125) question?
Stock #IGL00310
Quality Score
Status
Chromosome12
Chromosomal Location8528483-8599066 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 8539121 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 142 (Y142C)
Ref Sequence ENSEMBL: ENSMUSP00000093548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036938] [ENSMUST00000095863] [ENSMUST00000165657]
Predicted Effect probably benign
Transcript: ENSMUST00000036938
SMART Domains Protein: ENSMUSP00000047873
Gene: ENSMUSG00000020600

DomainStartEndE-ValueType
Pfam:AA_permease_2 1 197 2.6e-20 PFAM
Pfam:AA_permease 1 221 1.5e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000095863
AA Change: Y142C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093548
Gene: ENSMUSG00000020600
AA Change: Y142C

DomainStartEndE-ValueType
Pfam:AA_permease_2 31 453 2.6e-57 PFAM
Pfam:AA_permease 35 480 2.2e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129465
Predicted Effect probably benign
Transcript: ENSMUST00000165657
SMART Domains Protein: ENSMUSP00000129806
Gene: ENSMUSG00000020600

DomainStartEndE-ValueType
Pfam:AA_permease_2 1 197 2.6e-20 PFAM
Pfam:AA_permease 1 221 1.5e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219595
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 T G 1: 89,887,670 V573G probably damaging Het
Dpp6 T A 5: 27,723,443 D786E probably damaging Het
Dync2h1 T C 9: 7,155,072 probably benign Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Mettl25 T C 10: 105,826,434 H225R probably benign Het
Mocos C T 18: 24,660,044 T66I possibly damaging Het
Ptprk T A 10: 28,336,510 D221E possibly damaging Het
Slc13a3 A T 2: 165,411,923 F437I probably damaging Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Other mutations in Slc7a15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00507:Slc7a15 APN 12 8535474 missense probably damaging 1.00
IGL01839:Slc7a15 APN 12 8539365 missense probably damaging 1.00
IGL02006:Slc7a15 APN 12 8535508 critical splice acceptor site probably null
IGL02201:Slc7a15 APN 12 8539023 missense possibly damaging 0.93
R0422:Slc7a15 UTSW 12 8534400 missense probably benign 0.17
R0794:Slc7a15 UTSW 12 8539278 missense probably benign 0.19
R1194:Slc7a15 UTSW 12 8535772 missense probably damaging 1.00
R1420:Slc7a15 UTSW 12 8534442 missense probably benign 0.01
R2696:Slc7a15 UTSW 12 8529345 makesense probably null
R4809:Slc7a15 UTSW 12 8539002 missense probably benign 0.10
R5236:Slc7a15 UTSW 12 8539005 missense probably benign 0.38
R5579:Slc7a15 UTSW 12 8539344 missense probably benign 0.00
R6453:Slc7a15 UTSW 12 8534490 missense possibly damaging 0.77
R7136:Slc7a15 UTSW 12 8538895 missense probably damaging 0.98
X0027:Slc7a15 UTSW 12 8539350 missense probably damaging 1.00
Posted On2012-04-20