Mutagenetix > Incidental Mutations

Incidental Mutation 'R8774-TAIL:Slc15a1'

667994

Institutional Source

Beutler Lab

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 #

R8774-TAIL

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121459621-121505252 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 121487011 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 150 (Q150K)

Ref Sequence

ENSEMBL: ENSMUSP00000085728 (fasta)

Gene Model

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

AlphaFold

Q9JIP7

Predicted Effect

probably damaging
Transcript: ENSMUST00000088386
AA Change: Q150K

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

SMART Domains

Protein: ENSMUSP00000085728
Gene: ENSMUSG00000025557
AA Change: Q150K

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

Meta Mutation Damage Score

0.8227

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	C	4: 42,971,087	L140P	probably damaging	Het
Abca1	A	G	4: 53,090,358	S364P	possibly damaging	Het
Abcc2	T	A	19: 43,799,138	Y208N	probably damaging	Het
Acy1	A	T	9: 106,436,714	D82E	probably damaging	Het
Ankub1	A	G	3: 57,690,381	L56P	probably damaging	Het
Aoc1	T	A	6: 48,908,595	F678Y	probably damaging	Het
Asxl3	C	A	18: 22,524,044	Q1704K	probably damaging	Het
Atg9b	T	C	5: 24,390,573	D236G	probably damaging	Het
Auh	A	T	13: 52,839,595	M261K	probably benign	Het
Blm	TCC	TCCGCC	7: 80,512,907		probably benign	Het
Blm	CTC	CTCATC	7: 80,512,918		probably benign	Het
Blm	TCC	TCCGCC	7: 80,512,919		probably benign	Het
C2cd6	A	T	1: 59,060,666	M372K	possibly damaging	Het
Ccdc88b	A	T	19: 6,847,722	N1287K	probably damaging	Het
Cebpz	A	G	17: 78,921,644	S958P	probably benign	Het
Cgn	T	A	3: 94,773,500	Q576L	probably damaging	Het
Chd7	T	A	4: 8,854,692	M2011K	probably damaging	Het
Cntnap4	A	G	8: 112,803,188	E676G	probably benign	Het
Cspp1	A	T	1: 10,112,914	E781D	possibly damaging	Het
Cyb5d2	A	C	11: 72,789,075		probably null	Het
Epn3	G	T	11: 94,492,394	P335T	possibly damaging	Het
Fam160a1	G	C	3: 85,672,790	Q703E	probably benign	Het
Far2	T	A	6: 148,146,131	S103T	probably benign	Het
Fhl2	A	G	1: 43,123,591	S255P	probably damaging	Het
Fmnl2	T	A	2: 53,042,309	V100D		Het
Gabbr1	T	C	17: 37,071,857	L814P	probably damaging	Het
Gzmg	C	T	14: 56,156,736	V234I	probably benign	Het
Ift172	A	G	5: 31,257,863	V1334A	probably benign	Het
Itga8	C	G	2: 12,182,684	G728A	probably damaging	Het
Klrg1	T	C	6: 122,278,234	T80A	probably benign	Het
Lrp4	A	G	2: 91,477,698	N496S	probably benign	Het
Lsmem1	G	T	12: 40,177,146	N113K	probably damaging	Het
Map3k2	G	A	18: 32,212,064	S314N	probably damaging	Het
Mtpap	C	T	18: 4,387,032	R361*	probably null	Het
Muc5b	T	A	7: 141,865,094	S3926T	probably benign	Het
Nat10	C	A	2: 103,731,407	R643L	probably damaging	Het
Ncbp3	T	C	11: 73,047,982	V28A	probably benign	Het
Nlrp9a	T	C	7: 26,558,559	L534P	possibly damaging	Het
Nmi	T	C	2: 51,958,962	K39E	probably benign	Het
Nxpe4	A	G	9: 48,393,392	N260D	probably benign	Het
Olfr1282	T	C	2: 111,335,973	Y35C	probably damaging	Het
Olfr612	C	A	7: 103,538,758	V159L	probably benign	Het
Olfr806	T	A	10: 129,738,057	I287F	probably damaging	Het
Olfr897-ps1	G	A	9: 38,309,304	A170T	unknown	Het
Pirb	G	T	7: 3,717,729	L257M	probably damaging	Het
Plcg2	A	T	8: 117,579,846	D313V	possibly damaging	Het
Ppard	G	A	17: 28,298,890	V311I	possibly damaging	Het
Ptcd1	A	T	5: 145,155,365	M308K	probably damaging	Het
Pygo1	A	G	9: 72,945,154	N208D	possibly damaging	Het
Robo1	T	G	16: 73,035,831	D1497E	probably benign	Het
Sdk2	T	C	11: 113,839,343	D1022G	probably damaging	Het
Shc3	G	A	13: 51,461,439	H161Y	probably damaging	Het
Sod1	T	G	16: 90,226,151	V120G	probably damaging	Het
Sprr2f	T	A	3: 92,366,016	C41S	unknown	Het
Svil	A	T	18: 5,049,068	Y115F	probably damaging	Het
Tdp1	T	C	12: 99,911,658	S400P	probably damaging	Het
Thbs4	A	T	13: 92,761,522	D596E	probably damaging	Het
Tshz1	T	A	18: 84,014,976	M436L	possibly damaging	Het
Ube3c	C	T	5: 29,607,031	T423I	probably benign	Het
Unc93a	A	T	17: 13,122,950	I98N	probably damaging	Het
Usp33	T	A	3: 152,379,576	Y624*	probably null	Het
Vmn1r217	T	A	13: 23,113,938	M265L	probably benign	Het
Vmn1r222	A	T	13: 23,232,248	M265K	probably benign	Het
Vmn2r16	C	T	5: 109,340,365	T368M	probably benign	Het
Zfp867	A	G	11: 59,464,011	F164S	probably damaging	Het
Zswim1	C	T	2: 164,826,142	T438I	probably benign	Het

Other mutations in Slc15a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Predicted Primers

Posted On

2021-03-08