Incidental Mutation 'IGL01799:Slc15a1'
ID 155449
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc15a1
Ensembl Gene ENSMUSG00000025557
Gene Name solute carrier family 15 (oligopeptide transporter), member 1
Synonyms PECT1, PEPT1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL01799
Quality Score
Status
Chromosome 14
Chromosomal Location 121459621-121505252 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 121480729 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 246 (N246T)
Ref Sequence ENSEMBL: ENSMUSP00000085728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088386]
AlphaFold Q9JIP7
Predicted Effect possibly damaging
Transcript: ENSMUST00000088386
AA Change: N246T

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000085728
Gene: ENSMUSG00000025557
AA Change: N246T

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c20 T A 13: 4,514,258 probably null Het
Anp32a A G 9: 62,371,810 T35A probably benign Het
Dennd1a A G 2: 38,048,742 Y119H probably damaging Het
Evc T C 5: 37,324,914 I32V possibly damaging Het
Fbll1 A C 11: 35,798,109 V109G possibly damaging Het
Gli3 T C 13: 15,726,161 S1378P probably benign Het
Gm7257 T C 9: 36,432,883 L54P possibly damaging Het
Hcfc2 G A 10: 82,700,991 C79Y probably damaging Het
Hdac5 A T 11: 102,200,085 I741N possibly damaging Het
Heatr5a T C 12: 51,897,835 D1289G probably benign Het
Hyal5 T A 6: 24,891,337 N383K probably benign Het
Itsn1 T C 16: 91,848,882 L59P probably damaging Het
Lrrc8b T A 5: 105,485,891 L743Q probably benign Het
Minos1 G T 4: 139,103,997 probably benign Het
Mks1 A T 11: 87,856,863 I191F probably benign Het
Mrc1 T A 2: 14,238,376 N104K probably damaging Het
Ms4a6d A T 19: 11,590,135 I26N probably damaging Het
Mup17 T C 4: 61,593,711 T109A probably benign Het
Mylk4 T G 13: 32,781,691 E9A probably benign Het
Myo7b C T 18: 31,962,770 V1812M probably damaging Het
Nbas T C 12: 13,324,400 probably benign Het
Ncoa2 T C 1: 13,152,375 probably benign Het
Nlrp4f T C 13: 65,187,462 H771R probably benign Het
Olfr1012 T A 2: 85,759,642 I245F probably benign Het
Opa1 T C 16: 29,616,658 V642A possibly damaging Het
Pi4ka C A 16: 17,389,371 L23F probably damaging Het
Rerg T A 6: 137,056,378 K100* probably null Het
Sema6c T C 3: 95,170,831 V506A probably damaging Het
Sorcs1 A G 19: 50,230,209 probably null Het
Vmn2r118 A G 17: 55,592,990 L638P probably damaging Het
Vmn2r80 G A 10: 79,171,551 G454S possibly 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
IGL02064:Slc15a1 APN 14 121462499 missense possibly damaging 0.66
IGL02064:Slc15a1 APN 14 121462474 missense probably benign 0.20
IGL02115:Slc15a1 APN 14 121480661 missense possibly damaging 0.61
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
R8774:Slc15a1 UTSW 14 121487011 missense probably damaging 1.00
R8774-TAIL:Slc15a1 UTSW 14 121487011 missense probably damaging 1.00
R8933:Slc15a1 UTSW 14 121486679 missense probably benign 0.00
R9157:Slc15a1 UTSW 14 121464977 missense probably benign 0.08
Z1088:Slc15a1 UTSW 14 121480054 missense probably benign 0.09
Z1088:Slc15a1 UTSW 14 121491044 missense probably damaging 1.00
Posted On 2014-02-04