Incidental Mutation 'IGL01101:Slc38a5'
ID53328
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc38a5
Ensembl Gene ENSMUSG00000031170
Gene Namesolute carrier family 38, member 5
SynonymsJM24, C81234, SN2
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01101
Quality Score
Status
ChromosomeX
Chromosomal Location8271133-8280179 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) T to C at 8271511 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033512] [ENSMUST00000115590] [ENSMUST00000115591] [ENSMUST00000127103]
Predicted Effect probably benign
Transcript: ENSMUST00000033512
SMART Domains Protein: ENSMUSP00000033512
Gene: ENSMUSG00000031170

DomainStartEndE-ValueType
Pfam:Aa_trans 56 467 8.4e-91 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115590
SMART Domains Protein: ENSMUSP00000111253
Gene: ENSMUSG00000031170

DomainStartEndE-ValueType
Pfam:Aa_trans 48 459 3.7e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115591
SMART Domains Protein: ENSMUSP00000111254
Gene: ENSMUSG00000031170

DomainStartEndE-ValueType
Pfam:Aa_trans 48 459 3.7e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127103
SMART Domains Protein: ENSMUSP00000115713
Gene: ENSMUSG00000031170

DomainStartEndE-ValueType
Pfam:Aa_trans 48 103 3.5e-16 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a system N sodium-coupled amino acid transporter. The encoded protein transports glutamine, asparagine, histidine, serine, alanine, and glycine across the cell membrane, but does not transport charged amino acids, imino acids, or N-alkylated amino acids. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Aug 2013]
PHENOTYPE: The gene product plays a role in mediating amino-acid-stimulated pancreatic alpha cell proliferation. Under glucagon receptor (Gcgr) inhibition conditions, homozygous KO reduces alpha cell hyperplasia and causes hypoglycemia and increased plasma glucagon and amino acid levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik A T 7: 140,296,104 Q543L probably benign Het
Adamts20 T A 15: 94,344,042 D695V probably damaging Het
Ahnak T C 19: 9,012,887 probably benign Het
Akap4 T A X: 7,076,184 M242K probably benign Het
Cd207 T C 6: 83,675,857 D97G probably benign Het
Cdc20 A G 4: 118,435,552 V333A possibly damaging Het
Cdhr2 A G 13: 54,718,135 probably benign Het
Cfhr1 T A 1: 139,553,584 Y186F probably benign Het
Cnbd1 T A 4: 18,907,098 I159F probably benign Het
Cyp2j11 A C 4: 96,339,095 M228R probably benign Het
Dach1 C A 14: 97,840,204 S581I possibly damaging Het
Dbnl A G 11: 5,793,722 D71G possibly damaging Het
F8 T A X: 75,287,387 T966S possibly damaging Het
Filip1 T A 9: 79,898,246 L75F probably benign Het
Foxi2 A G 7: 135,412,007 Y322C probably benign Het
Ftsj3 A G 11: 106,255,632 V7A probably benign Het
Gm8362 A T 14: 6,767,109 S204T probably benign Het
Ibtk C A 9: 85,732,622 probably benign Het
Marf1 C T 16: 14,146,736 V267I possibly damaging Het
Mmp27 T A 9: 7,573,415 D169E probably damaging Het
Olfr1115 C A 2: 87,252,462 T175K probably damaging Het
Olfr1247 C T 2: 89,609,847 C85Y probably benign Het
Olfr728 A T 14: 50,140,054 M195K probably benign Het
P4ha2 G T 11: 54,119,305 C296F probably damaging Het
Sorbs2 G T 8: 45,745,423 R36L possibly damaging Het
Tmem207 A C 16: 26,517,877 Y42* probably null Het
Vmn2r115 G A 17: 23,345,997 R286K probably benign Het
Other mutations in Slc38a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01410:Slc38a5 APN X 8279831 missense probably benign 0.00
IGL01410:Slc38a5 APN X 8279832 missense probably benign 0.00
IGL02047:Slc38a5 APN X 8273640 missense possibly damaging 0.87
X0028:Slc38a5 UTSW X 8276836 missense probably damaging 1.00
Posted On2013-06-21