Incidental Mutation 'IGL01101:Slc38a5'
ID 53328
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc38a5
Ensembl Gene ENSMUSG00000031170
Gene Name solute carrier family 38, member 5
Synonyms SN2, JM24, C81234
Accession Numbers
Essential gene? Not available question?
Stock # IGL01101
Quality Score
Status
Chromosome X
Chromosomal Location 8137620-8146418 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 8137750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033512] [ENSMUST00000115590] [ENSMUST00000115591] [ENSMUST00000127103]
AlphaFold Q3U1J0
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
Adamts20 T A 15: 94,241,923 (GRCm39) D695V probably damaging Het
Ahnak T C 19: 8,990,251 (GRCm39) probably benign Het
Akap4 T A X: 6,942,423 (GRCm39) M242K probably benign Het
Cd207 T C 6: 83,652,839 (GRCm39) D97G probably benign Het
Cdc20 A G 4: 118,292,749 (GRCm39) V333A possibly damaging Het
Cdhr2 A G 13: 54,865,948 (GRCm39) probably benign Het
Cfhr1 T A 1: 139,481,322 (GRCm39) Y186F probably benign Het
Cnbd1 T A 4: 18,907,098 (GRCm39) I159F probably benign Het
Cyp2j11 A C 4: 96,227,332 (GRCm39) M228R probably benign Het
Dach1 C A 14: 98,077,640 (GRCm39) S581I possibly damaging Het
Dbnl A G 11: 5,743,722 (GRCm39) D71G possibly damaging Het
F8 T A X: 74,330,993 (GRCm39) T966S possibly damaging Het
Filip1 T A 9: 79,805,528 (GRCm39) L75F probably benign Het
Foxi2 A G 7: 135,013,736 (GRCm39) Y322C probably benign Het
Ftsj3 A G 11: 106,146,458 (GRCm39) V7A probably benign Het
Gm8362 A T 14: 18,145,196 (GRCm39) S204T probably benign Het
Ibtk C A 9: 85,614,675 (GRCm39) probably benign Het
Marf1 C T 16: 13,964,600 (GRCm39) V267I possibly damaging Het
Mmp27 T A 9: 7,573,416 (GRCm39) D169E probably damaging Het
Or10ag53 C A 2: 87,082,806 (GRCm39) T175K probably damaging Het
Or4a74 C T 2: 89,440,191 (GRCm39) C85Y probably benign Het
Or4k1 A T 14: 50,377,511 (GRCm39) M195K probably benign Het
P4ha2 G T 11: 54,010,131 (GRCm39) C296F probably damaging Het
Scart2 A T 7: 139,876,017 (GRCm39) Q543L probably benign Het
Sorbs2 G T 8: 46,198,460 (GRCm39) R36L possibly damaging Het
Tmem207 A C 16: 26,336,627 (GRCm39) Y42* probably null Het
Vmn2r115 G A 17: 23,564,971 (GRCm39) R286K probably benign Het
Other mutations in Slc38a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01410:Slc38a5 APN X 8,146,071 (GRCm39) missense probably benign 0.00
IGL01410:Slc38a5 APN X 8,146,070 (GRCm39) missense probably benign 0.00
IGL02047:Slc38a5 APN X 8,139,879 (GRCm39) missense possibly damaging 0.87
X0028:Slc38a5 UTSW X 8,143,075 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21