Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02514:Slc15a1'

296671

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

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

IGL02514

Quality Score

Status

Chromosome

Chromosomal Location

121697033-121742664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121724452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 140 (K140R)

Ref Sequence

ENSEMBL: ENSMUSP00000085728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088386]

AlphaFold

Q9JIP7

Predicted Effect

probably damaging
Transcript: ENSMUST00000088386
AA Change: K140R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000085728
Gene: ENSMUSG00000025557
AA Change: K140R

Domain	Start	End	E-Value	Type
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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	A	T	1: 138,779,909 (GRCm39)	C114*	probably null	Het
4933421I07Rik	A	G	7: 42,096,981 (GRCm39)	M110T	probably damaging	Het
Amer1	A	G	X: 94,470,117 (GRCm39)	V667A	possibly damaging	Het
Casr	C	T	16: 36,320,687 (GRCm39)	G487E	probably damaging	Het
Catsperd	G	A	17: 56,968,271 (GRCm39)	G552D	probably damaging	Het
Ceacam3	A	G	7: 16,896,906 (GRCm39)	D624G	possibly damaging	Het
Celsr2	A	G	3: 108,304,826 (GRCm39)	V2208A	probably benign	Het
Cibar1	T	G	4: 12,164,080 (GRCm39)		probably benign	Het
Clca4a	G	A	3: 144,660,832 (GRCm39)	S664F	probably damaging	Het
Ddx23	A	T	15: 98,556,199 (GRCm39)	S40T	unknown	Het
Dhodh	G	A	8: 110,332,896 (GRCm39)	R58*	probably null	Het
Dhx36	A	G	3: 62,408,319 (GRCm39)	L173S	possibly damaging	Het
Dnaaf5	C	T	5: 139,159,872 (GRCm39)		probably benign	Het
Dnah3	T	C	7: 119,565,470 (GRCm39)	D2546G	probably damaging	Het
Eef2	T	G	10: 81,015,427 (GRCm39)	I316S	probably benign	Het
Efcab6	T	C	15: 83,917,143 (GRCm39)	D139G	possibly damaging	Het
Efcab6	A	T	15: 83,755,512 (GRCm39)		probably benign	Het
Eif4g3	T	A	4: 137,853,505 (GRCm39)	I357N	possibly damaging	Het
Elovl2	G	A	13: 41,348,247 (GRCm39)	T44M	probably benign	Het
Fbln1	T	A	15: 85,128,463 (GRCm39)	C553*	probably null	Het
Fip1l1	T	C	5: 74,731,813 (GRCm39)	V310A	probably damaging	Het
Gast	A	G	11: 100,227,718 (GRCm39)	D100G	probably benign	Het
Gk	G	A	X: 84,756,970 (GRCm39)		probably benign	Het
Gm1330	G	A	2: 148,841,305 (GRCm39)		probably benign	Het
Hspg2	C	A	4: 137,296,887 (GRCm39)	T4355K	probably benign	Het
Ipo7	T	C	7: 109,648,035 (GRCm39)	V639A	possibly damaging	Het
Lrrc7	T	C	3: 157,865,929 (GRCm39)	M1271V	probably damaging	Het
Msantd1	T	A	5: 35,078,887 (GRCm39)	S141T	probably damaging	Het
Myo9b	T	C	8: 71,743,650 (GRCm39)	I237T	probably damaging	Het
Or10ag59	G	A	2: 87,405,537 (GRCm39)	M36I	probably benign	Het
Or13a21	A	T	7: 139,999,507 (GRCm39)	Y60N	probably damaging	Het
Or2w3	T	C	11: 58,556,469 (GRCm39)	F28S	probably damaging	Het
Or4k40	A	C	2: 111,251,117 (GRCm39)	Y60D	probably damaging	Het
Pan2	A	T	10: 128,146,610 (GRCm39)	M416L	possibly damaging	Het
Pank4	T	C	4: 155,054,922 (GRCm39)	F209L	probably damaging	Het
Pcdhb13	A	T	18: 37,576,044 (GRCm39)	I141L	possibly damaging	Het
Pik3r2	A	G	8: 71,223,236 (GRCm39)	Y422H	probably benign	Het
Pramel14	T	C	4: 143,719,772 (GRCm39)	K198E	probably benign	Het
Prdm4	A	T	10: 85,743,781 (GRCm39)	I158N	probably damaging	Het
Prl	T	G	13: 27,243,377 (GRCm39)	L14R	probably damaging	Het
Rabl6	C	A	2: 25,498,188 (GRCm39)	A23S	probably damaging	Het
Rbm15b	T	A	9: 106,762,176 (GRCm39)	H664L	probably damaging	Het
Rhobtb1	T	A	10: 69,125,471 (GRCm39)	H618Q	probably benign	Het
Slc6a17	A	G	3: 107,402,993 (GRCm39)	S145P	possibly damaging	Het
Snx31	T	C	15: 36,525,728 (GRCm39)	T324A	probably damaging	Het
Spatc1l	T	C	10: 76,405,490 (GRCm39)		probably benign	Het
Taar7b	A	G	10: 23,876,882 (GRCm39)	N349S	probably benign	Het
Tbx19	T	C	1: 164,981,273 (GRCm39)	I74V	probably benign	Het
Tmtc2	G	A	10: 105,025,960 (GRCm39)	T836I	possibly damaging	Het
Vmn2r72	C	A	7: 85,387,907 (GRCm39)	M552I	possibly damaging	Het
Vsig10l	A	G	7: 43,113,338 (GRCm39)	T199A	probably benign	Het
Washc4	A	T	10: 83,405,947 (GRCm39)	E481V	probably damaging	Het
Zc3h15	T	A	2: 83,483,725 (GRCm39)	N33K	probably damaging	Het

Other mutations in Slc15a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01337:Slc15a1	APN	14	121,698,091 (GRCm39)	missense	possibly damaging	0.95
IGL01534:Slc15a1	APN	14	121,702,364 (GRCm39)	missense	possibly damaging	0.95
IGL01783:Slc15a1	APN	14	121,708,688 (GRCm39)	critical splice donor site	probably null
IGL01799:Slc15a1	APN	14	121,718,141 (GRCm39)	missense	possibly damaging	0.76
IGL02064:Slc15a1	APN	14	121,699,886 (GRCm39)	missense	probably benign	0.20
IGL02064:Slc15a1	APN	14	121,699,911 (GRCm39)	missense	possibly damaging	0.66
IGL02115:Slc15a1	APN	14	121,718,073 (GRCm39)	missense	possibly damaging	0.61
IGL03056:Slc15a1	APN	14	121,728,695 (GRCm39)	missense	possibly damaging	0.82
IGL03297:Slc15a1	APN	14	121,724,096 (GRCm39)	missense	probably damaging	1.00
R1484:Slc15a1	UTSW	14	121,728,651 (GRCm39)	nonsense	probably null
R1532:Slc15a1	UTSW	14	121,713,396 (GRCm39)	missense	possibly damaging	0.79
R1655:Slc15a1	UTSW	14	121,703,311 (GRCm39)	missense	probably benign	0.34
R2013:Slc15a1	UTSW	14	121,713,399 (GRCm39)	missense	possibly damaging	0.88
R2270:Slc15a1	UTSW	14	121,717,406 (GRCm39)	missense	probably damaging	0.99
R2878:Slc15a1	UTSW	14	121,703,345 (GRCm39)	missense	probably benign	0.00
R2986:Slc15a1	UTSW	14	121,727,221 (GRCm39)	missense	probably benign	0.02
R3862:Slc15a1	UTSW	14	121,722,269 (GRCm39)	missense	probably benign	0.06
R3863:Slc15a1	UTSW	14	121,722,269 (GRCm39)	missense	probably benign	0.06
R3978:Slc15a1	UTSW	14	121,727,239 (GRCm39)	missense	probably benign	0.00
R4184:Slc15a1	UTSW	14	121,703,574 (GRCm39)	missense	probably benign	0.00
R4573:Slc15a1	UTSW	14	121,724,441 (GRCm39)	missense	probably damaging	0.99
R4604:Slc15a1	UTSW	14	121,727,319 (GRCm39)	missense	probably damaging	1.00
R4649:Slc15a1	UTSW	14	121,715,504 (GRCm39)	missense	probably damaging	1.00
R5838:Slc15a1	UTSW	14	121,722,283 (GRCm39)	missense	probably damaging	1.00
R6221:Slc15a1	UTSW	14	121,702,316 (GRCm39)	missense	probably null	1.00
R6891:Slc15a1	UTSW	14	121,713,442 (GRCm39)	missense	probably benign	0.00
R7626:Slc15a1	UTSW	14	121,713,377 (GRCm39)	missense	probably benign	0.13
R7836:Slc15a1	UTSW	14	121,718,145 (GRCm39)	nonsense	probably null
R8284:Slc15a1	UTSW	14	121,727,275 (GRCm39)	missense	probably benign	0.01
R8376:Slc15a1	UTSW	14	121,718,115 (GRCm39)	missense	probably benign
R8408:Slc15a1	UTSW	14	121,715,528 (GRCm39)	missense	possibly damaging	0.91
R8774:Slc15a1	UTSW	14	121,724,423 (GRCm39)	missense	probably damaging	1.00
R8774-TAIL:Slc15a1	UTSW	14	121,724,423 (GRCm39)	missense	probably damaging	1.00
R8933:Slc15a1	UTSW	14	121,724,091 (GRCm39)	missense	probably benign	0.00
R9157:Slc15a1	UTSW	14	121,702,389 (GRCm39)	missense	probably benign	0.08
Z1088:Slc15a1	UTSW	14	121,728,456 (GRCm39)	missense	probably damaging	1.00
Z1088:Slc15a1	UTSW	14	121,717,466 (GRCm39)	missense	probably benign	0.09

Posted On

2015-04-16