Incidental Mutation 'IGL02192:Slc7a5'
ID283941
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc7a5
Ensembl Gene ENSMUSG00000040010
Gene Namesolute carrier family 7 (cationic amino acid transporter, y+ system), member 5
SynonymsTA1, D0H16S474E, LAT1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02192
Quality Score
Status
Chromosome8
Chromosomal Location121881150-121907694 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) A to G at 121886390 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045557] [ENSMUST00000127664]
Predicted Effect probably benign
Transcript: ENSMUST00000045557
SMART Domains Protein: ENSMUSP00000041557
Gene: ENSMUSG00000040010

DomainStartEndE-ValueType
low complexity region 4 27 N/A INTRINSIC
Pfam:AA_permease_2 51 481 4.2e-65 PFAM
Pfam:AA_permease 56 489 1.6e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183015
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted mutation die prenatally. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A T 7: 28,898,400 M545K possibly damaging Het
Adamtsl1 A G 4: 86,228,016 E303G probably damaging Het
Anxa13 A T 15: 58,348,780 noncoding transcript Het
Ap2b1 C T 11: 83,346,766 T552I possibly damaging Het
Cars T C 7: 143,571,588 S388G probably damaging Het
Cdh18 A T 15: 23,460,316 D544V probably damaging Het
Chat T C 14: 32,423,322 R377G possibly damaging Het
Col14a1 A G 15: 55,362,402 T154A unknown Het
Col9a1 C T 1: 24,221,987 P311S probably damaging Het
Cpsf3 G T 12: 21,310,193 probably benign Het
Cpsf3 G T 12: 21,310,196 probably null Het
Dock8 T C 19: 25,078,205 probably null Het
Eml6 A G 11: 29,805,743 I837T probably benign Het
Epb41 T C 4: 131,929,717 T792A probably damaging Het
Exph5 A T 9: 53,376,325 R1569* probably null Het
F13b A T 1: 139,517,333 T574S probably damaging Het
Fam160a1 A G 3: 85,673,326 L524P possibly damaging Het
Fam184b G T 5: 45,537,720 D727E probably benign Het
Fhod3 T C 18: 25,056,358 L619P probably damaging Het
Fsd1l A G 4: 53,647,754 I66V probably benign Het
Fv1 A G 4: 147,870,255 D426G possibly damaging Het
Gm3371 A T 14: 44,403,778 probably benign Het
Hnf1a A T 5: 114,960,118 S142T probably damaging Het
Itgb3 A G 11: 104,643,939 I541V probably benign Het
Itgbl1 G T 14: 123,843,926 C239F probably damaging Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Larp1b G T 3: 40,967,494 S116I probably benign Het
Lmtk3 A G 7: 45,794,509 probably benign Het
Mapk10 T C 5: 102,989,647 I235V probably damaging Het
Mctp1 C T 13: 76,731,768 probably benign Het
Megf8 G A 7: 25,353,860 D1819N probably damaging Het
Muc6 T C 7: 141,637,804 T2254A possibly damaging Het
Nbr1 T A 11: 101,569,591 S444T probably damaging Het
Ncor2 A T 5: 125,024,237 D1956E probably damaging Het
Ndufaf5 T C 2: 140,188,743 V183A probably benign Het
Nfasc G A 1: 132,570,481 T1155M probably damaging Het
Nol12 A G 15: 78,937,174 E78G probably damaging Het
Npy5r T A 8: 66,681,346 H265L probably benign Het
Olfr1008 G A 2: 85,690,128 G233D possibly damaging Het
Olfr418 T A 1: 173,270,850 L225H probably damaging Het
Pop1 A G 15: 34,529,071 E749G probably benign Het
Ppil3 T C 1: 58,438,388 I66V probably damaging Het
Prl4a1 C A 13: 28,018,571 T43K possibly damaging Het
Prop1 A G 11: 50,953,286 probably benign Het
Qrsl1 A T 10: 43,885,014 I218N probably damaging Het
Rbm22 T A 18: 60,564,412 M63K possibly damaging Het
Rictor T C 15: 6,786,414 S1056P probably benign Het
Rps6kb2 T C 19: 4,157,588 T388A probably damaging Het
Sp100 A T 1: 85,708,001 D509V probably damaging Het
Spata18 G T 5: 73,672,518 probably null Het
Sspo C A 6: 48,459,568 T1254K possibly damaging Het
Stk19 A G 17: 34,832,158 probably benign Het
Taar8b T A 10: 24,091,364 I311F probably damaging Het
Themis2 C A 4: 132,783,347 probably null Het
Tll2 T C 19: 41,086,263 Y937C possibly damaging Het
Trim34a T A 7: 104,247,732 M1K probably null Het
Usp50 G A 2: 126,778,038 T118I possibly damaging Het
Vps13d G A 4: 145,148,858 S1693F probably benign Het
Vps16 T A 2: 130,440,932 I467N probably damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Slc7a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0364:Slc7a5 UTSW 8 121885015 missense probably benign
R0580:Slc7a5 UTSW 8 121885116 missense probably benign 0.21
R0965:Slc7a5 UTSW 8 121907101 missense probably benign 0.01
R1274:Slc7a5 UTSW 8 121883714 missense probably benign 0.44
R2135:Slc7a5 UTSW 8 121883705 missense probably null 0.96
R4163:Slc7a5 UTSW 8 121888400 missense probably benign 0.00
R4506:Slc7a5 UTSW 8 121887495 critical splice donor site probably null
R4910:Slc7a5 UTSW 8 121885122 missense probably damaging 0.96
R5243:Slc7a5 UTSW 8 121896535 missense probably damaging 1.00
R5449:Slc7a5 UTSW 8 121886348 missense probably damaging 1.00
R5719:Slc7a5 UTSW 8 121883642 missense probably benign 0.00
R5744:Slc7a5 UTSW 8 121888382 missense probably benign 0.00
R7473:Slc7a5 UTSW 8 121888423 missense probably benign
R7499:Slc7a5 UTSW 8 121883722 missense probably damaging 1.00
Posted On2015-04-16