Incidental Mutation 'IGL03297:Slc15a1'
ID 416120
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 # IGL03297
Quality Score
Status
Chromosome 14
Chromosomal Location 121459621-121505252 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 121486684 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 170 (I170S)
Ref Sequence ENSEMBL: ENSMUSP00000085728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088386]
AlphaFold Q9JIP7
Predicted Effect probably damaging
Transcript: ENSMUST00000088386
AA Change: I170S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000085728
Gene: ENSMUSG00000025557
AA Change: I170S

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,423,426 G1624S probably damaging Het
Adhfe1 A G 1: 9,549,948 probably benign Het
Ano6 C A 15: 95,962,277 T760N probably damaging Het
Camsap2 T C 1: 136,297,801 M196V probably benign Het
Cd209d T C 8: 3,878,476 D3G possibly damaging Het
Cdh5 T A 8: 104,128,199 F253Y probably damaging Het
Cnot10 T C 9: 114,598,716 E610G possibly damaging Het
Cnot4 T C 6: 35,024,223 N579S probably benign Het
Csmd1 G T 8: 16,009,432 S2101* probably null Het
Dgkq C A 5: 108,650,274 R706L probably damaging Het
Gm5422 T C 10: 31,249,731 noncoding transcript Het
Gpr34 A G X: 13,639,442 Y70C probably damaging Het
Herc6 T A 6: 57,662,389 L914Q probably benign Het
Ifitm6 T C 7: 141,016,035 Y115C probably damaging Het
Iqcg G T 16: 33,035,632 probably benign Het
Myo15 A G 11: 60,479,141 D909G probably damaging Het
Nefl A G 14: 68,084,224 T88A possibly damaging Het
Nfatc2 T A 2: 168,536,218 N509I probably damaging Het
Nkd1 T C 8: 88,574,274 probably benign Het
Npas2 T C 1: 39,292,690 V62A possibly damaging Het
Oas2 T G 5: 120,735,085 D635A possibly damaging Het
Obscn C T 11: 59,060,886 V4014M possibly damaging Het
Ogfr C A 2: 180,594,407 H262N possibly damaging Het
Olfr433 T G 1: 174,042,117 S56A probably benign Het
Olfr913 A T 9: 38,594,525 L101F probably benign Het
Pa2g4 T C 10: 128,563,236 D104G probably damaging Het
Parp11 T C 6: 127,490,082 probably benign Het
Ppp2r5a C T 1: 191,354,762 V360I probably benign Het
Ptpn13 A T 5: 103,541,077 K912I probably benign Het
Sec16a A G 2: 26,439,190 S938P probably benign Het
Smchd1 T C 17: 71,349,700 N1924S probably benign Het
Sprr4 G A 3: 92,500,424 P24S unknown Het
Trim30b A T 7: 104,365,895 N95K probably benign Het
Tyw1 C T 5: 130,340,734 A687V probably damaging Het
Vmn2r14 T A 5: 109,216,107 I648F probably damaging Het
Vmn2r78 T A 7: 86,920,761 C162* probably null 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
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
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 2016-08-02