Incidental Mutation 'IGL01149:Slc7a6'
ID51838
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? Probably non essential (E-score: 0.155) question?
Stock #IGL01149
Quality Score
Status
Chromosome8
Chromosomal Location106168857-106198706 bp(+) (GRCm38)
Type of Mutationmissense (10017 bp from exon)
DNA Base Change (assembly) T to C at 106179600 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 155 (S155P)
Ref Sequence ENSEMBL: ENSMUSP00000148794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034378] [ENSMUST00000211824] [ENSMUST00000212377] [ENSMUST00000212421] [ENSMUST00000212802]
Predicted Effect probably damaging
Transcript: ENSMUST00000034378
AA Change: S155P

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034378
Gene: ENSMUSG00000031904
AA Change: S155P

DomainStartEndE-ValueType
Pfam:AA_permease_2 45 467 1.2e-66 PFAM
Pfam:AA_permease 50 471 2.1e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000211824
AA Change: S155P

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000212377
Predicted Effect probably benign
Transcript: ENSMUST00000212421
Predicted Effect possibly damaging
Transcript: ENSMUST00000212802
AA Change: S155P

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4632415L05Rik A G 3: 19,895,112 noncoding transcript Het
Adcy1 A C 11: 7,137,385 N420H probably damaging Het
Avp T C 2: 130,580,673 probably benign Het
B3galnt2 A T 13: 13,980,685 I216F probably benign Het
Cdc42bpa T C 1: 180,074,572 S465P probably damaging Het
Cdc42bpg T A 19: 6,312,205 probably benign Het
Cdcp2 T C 4: 107,107,111 F386S probably benign Het
Cdh4 A G 2: 179,874,144 T372A probably damaging Het
Clspn T G 4: 126,573,178 M612R probably damaging Het
Dll4 T C 2: 119,331,109 C391R probably damaging Het
Dll4 T C 2: 119,332,745 Y616H probably damaging Het
Exoc1 A G 5: 76,542,244 probably benign Het
F830045P16Rik A G 2: 129,460,312 probably benign Het
Fhod1 A G 8: 105,347,807 V16A probably benign Het
Fign T C 2: 63,979,760 R389G possibly damaging Het
Gm13941 T A 2: 111,101,137 E50V unknown Het
Gm436 T C 4: 144,673,779 D143G probably benign Het
Kit C T 5: 75,610,876 T231M probably damaging Het
Neu3 T C 7: 99,813,880 H212R probably benign Het
Nup214 G T 2: 32,034,700 S1747I probably damaging Het
Olfr1289 T C 2: 111,484,101 S252P probably damaging Het
Olfr735 G T 14: 50,345,614 A276E probably damaging Het
Olfr870 G T 9: 20,171,530 L14I probably damaging Het
Secisbp2 T C 13: 51,676,455 probably benign Het
Slc26a10 G A 10: 127,174,177 probably benign Het
Slf1 A T 13: 77,112,648 I173N probably damaging Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Tkfc A G 19: 10,600,651 L38P probably damaging Het
Tubgcp4 A G 2: 121,184,783 D324G probably benign Het
Zfyve16 T C 13: 92,508,283 H1137R probably damaging Het
Other mutations in Slc7a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00771:Slc7a6 APN 8 106179240 missense probably benign 0.01
IGL02232:Slc7a6 APN 8 106196574 missense possibly damaging 0.87
IGL02972:Slc7a6 APN 8 106179427 missense probably damaging 0.99
IGL03082:Slc7a6 APN 8 106193222 missense probably damaging 1.00
IGL03108:Slc7a6 APN 8 106194517 unclassified 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 splice site 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
Posted OnJun 21, 2013