Incidental Mutation 'IGL02115:Slc15a1'
ID280320
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc15a1
Ensembl Gene ENSMUSG00000025557
Gene Namesolute carrier family 15 (oligopeptide transporter), member 1
SynonymsPECT1, PEPT1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL02115
Quality Score
Status
Chromosome14
Chromosomal Location121459621-121505252 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 121480661 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 269 (Y269N)
Ref Sequence ENSEMBL: ENSMUSP00000085728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088386]
Predicted Effect possibly damaging
Transcript: ENSMUST00000088386
AA Change: Y269N

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000085728
Gene: ENSMUSG00000025557
AA Change: Y269N

DomainStartEndE-ValueType
Pfam:PTR2 81 477 1.9e-141 PFAM
Pfam:PTR2 562 644 4.2e-11 PFAM
transmembrane domain 650 672 N/A INTRINSIC
low complexity region 684 695 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227372
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an intestinal hydrogen peptide cotransporter that is a member of the solute carrier family 15. The encoded protein is localized to the brush border membrane of the intestinal epithelium and mediates the uptake of di- and tripeptides from the lumen into the enterocytes. This protein plays an important role in the uptake and digestion of dietary proteins. This protein also facilitates the absorption of numerous peptidomimetic drugs. [provided by RefSeq, Apr 2010]
PHENOTYPE: Peptide uptake in the intestine is substantially reduced in mice homozygous for a null mutation of this gene. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933440M02Rik A T 7: 125,331,609 noncoding transcript Het
Abca7 A T 10: 79,998,079 N76Y probably damaging Het
Apob A G 12: 7,992,923 K755R probably benign Het
BC034090 A T 1: 155,232,651 probably benign Het
Brinp1 T C 4: 68,762,398 T632A probably benign Het
Cdcp1 C A 9: 123,185,397 C104F probably damaging Het
Cfap206 C T 4: 34,722,623 V153I possibly damaging Het
Chd1l A T 3: 97,589,904 probably null Het
Ckb A G 12: 111,669,981 F271L possibly damaging Het
Col6a3 T A 1: 90,807,651 I759L probably damaging Het
Ddr2 A T 1: 169,994,709 M390K probably benign Het
Dhx8 C T 11: 101,752,388 P762L probably damaging Het
Dnah3 A T 7: 120,029,054 V1449E probably damaging Het
Dzip3 T C 16: 48,948,485 I629M probably benign Het
Ep300 T C 15: 81,648,818 I1692T unknown Het
Ercc6 T A 14: 32,576,993 L1446Q probably damaging Het
Gm10092 T C 16: 36,137,623 noncoding transcript Het
Gm6900 A T 7: 10,656,576 noncoding transcript Het
Gpr149 T C 3: 62,594,915 T507A probably benign Het
Hmcn1 T A 1: 150,630,728 D3776V probably damaging Het
Irgm2 A G 11: 58,220,122 E225G probably benign Het
Kif14 T C 1: 136,496,567 probably benign Het
Klhl22 T C 16: 17,776,595 V196A probably damaging Het
Lig4 T C 8: 9,973,247 S178G possibly damaging Het
Lzts2 A G 19: 45,026,370 probably benign Het
Mcoln3 C T 3: 146,137,301 S380L probably damaging Het
Med12l A T 3: 59,068,319 T223S probably benign Het
Mrpl54 A G 10: 81,265,649 probably null Het
Myo1c A T 11: 75,661,591 I397F probably damaging Het
Nbas A T 12: 13,317,692 probably benign Het
Ncoa2 G A 1: 13,152,817 H1195Y probably damaging Het
Nol3 A G 8: 105,279,631 M171V probably benign Het
Olfr167 A T 16: 19,515,103 C178S probably damaging Het
Olfr593 A G 7: 103,212,474 T194A probably damaging Het
Pdpr C T 8: 111,103,998 L107F probably damaging Het
Ppfibp2 G A 7: 107,739,318 probably benign Het
Rusc2 T C 4: 43,426,136 probably benign Het
Sdk2 G T 11: 113,834,813 probably benign Het
Sema7a T C 9: 57,960,900 C539R probably damaging Het
Senp6 T C 9: 80,121,926 C524R probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Synj2 T A 17: 6,017,590 Y113N probably damaging Het
Tm6sf1 A T 7: 81,875,803 Y172F probably damaging Het
Trpv4 T C 5: 114,625,029 D773G probably damaging Het
Ttc39a A G 4: 109,426,294 probably benign Het
Tut1 C T 19: 8,965,312 R588W probably damaging Het
Unc79 A T 12: 102,998,674 Y74F probably damaging Het
Usp53 A T 3: 122,947,390 I737K probably benign Het
Vmn2r67 A T 7: 85,151,579 M383K probably damaging Het
Zc3h4 A G 7: 16,425,783 D426G unknown Het
Zfp622 A G 15: 25,987,200 N308S probably damaging Het
Other mutations in Slc15a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01337:Slc15a1 APN 14 121460679 missense possibly damaging 0.95
IGL01534:Slc15a1 APN 14 121464952 missense possibly damaging 0.95
IGL01783:Slc15a1 APN 14 121471276 critical splice donor site probably null
IGL01799:Slc15a1 APN 14 121480729 missense possibly damaging 0.76
IGL02064:Slc15a1 APN 14 121462499 missense possibly damaging 0.66
IGL02064:Slc15a1 APN 14 121462474 missense probably benign 0.20
IGL02514:Slc15a1 APN 14 121487040 missense probably damaging 1.00
IGL03056:Slc15a1 APN 14 121491283 missense possibly damaging 0.82
IGL03297:Slc15a1 APN 14 121486684 missense probably damaging 1.00
R1484:Slc15a1 UTSW 14 121491239 nonsense probably null
R1532:Slc15a1 UTSW 14 121475984 missense possibly damaging 0.79
R1655:Slc15a1 UTSW 14 121465899 missense probably benign 0.34
R2013:Slc15a1 UTSW 14 121475987 missense possibly damaging 0.88
R2270:Slc15a1 UTSW 14 121479994 missense probably damaging 0.99
R2878:Slc15a1 UTSW 14 121465933 missense probably benign 0.00
R2986:Slc15a1 UTSW 14 121489809 missense probably benign 0.02
R3862:Slc15a1 UTSW 14 121484857 missense probably benign 0.06
R3863:Slc15a1 UTSW 14 121484857 missense probably benign 0.06
R3978:Slc15a1 UTSW 14 121489827 missense probably benign 0.00
R4184:Slc15a1 UTSW 14 121466162 missense probably benign 0.00
R4573:Slc15a1 UTSW 14 121487029 missense probably damaging 0.99
R4604:Slc15a1 UTSW 14 121489907 missense probably damaging 1.00
R4649:Slc15a1 UTSW 14 121478092 missense probably damaging 1.00
R5838:Slc15a1 UTSW 14 121484871 missense probably damaging 1.00
R6221:Slc15a1 UTSW 14 121464904 missense probably null 1.00
R6891:Slc15a1 UTSW 14 121476030 missense probably benign 0.00
R7626:Slc15a1 UTSW 14 121475965 missense probably benign 0.13
R7836:Slc15a1 UTSW 14 121480733 nonsense probably null
R8284:Slc15a1 UTSW 14 121489863 missense probably benign 0.01
R8376:Slc15a1 UTSW 14 121480703 missense probably benign
R8408:Slc15a1 UTSW 14 121478116 missense possibly damaging 0.91
Z1088:Slc15a1 UTSW 14 121480054 missense probably benign 0.09
Z1088:Slc15a1 UTSW 14 121491044 missense probably damaging 1.00
Posted On2015-04-16