Mutagenetix > Incidental Mutation

Incidental Mutation 'R8284:Slc15a1'

638397

Institutional Source

Beutler Lab

Gene Symbol

Slc15a1

Ensembl Gene

ENSMUSG00000025557

Gene Name

solute carrier family 15 (oligopeptide transporter), member 1

Synonyms

PECT1, PEPT1

MMRRC Submission

067707-MU

Accession Numbers

Essential gene?

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

Stock #

R8284 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121697033-121742664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121727275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 98 (I98V)

Ref Sequence

ENSEMBL: ENSMUSP00000085728 (fasta)

Gene Model

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

AlphaFold

Q9JIP7

Predicted Effect

probably benign
Transcript: ENSMUST00000088386
AA Change: I98V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000085728
Gene: ENSMUSG00000025557
AA Change: I98V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (54/54)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts14	T	C	10: 61,034,438 (GRCm39)	Y1147C	possibly damaging	Het
Adgrf5	T	A	17: 43,766,161 (GRCm39)	S1328T	unknown	Het
Aff4	A	G	11: 53,295,379 (GRCm39)	K860E	probably damaging	Het
Aox1	A	C	1: 58,115,250 (GRCm39)	H745P	probably damaging	Het
Bpifc	T	C	10: 85,836,413 (GRCm39)	T31A	probably benign	Het
C3	C	A	17: 57,530,938 (GRCm39)	V388L	probably benign	Het
Celsr3	G	T	9: 108,723,612 (GRCm39)	M2874I	probably damaging	Het
Cnga4	T	A	7: 105,057,239 (GRCm39)	D550E	probably benign	Het
Dhx8	A	G	11: 101,648,455 (GRCm39)	T918A	probably damaging	Het
Dnah14	A	C	1: 181,601,376 (GRCm39)	E3670A	probably benign	Het
Fbxo31	T	C	8: 122,287,181 (GRCm39)	I131V	probably benign	Het
Ftcd	T	C	10: 76,413,893 (GRCm39)	V99A	probably benign	Het
Gucy2e	A	G	11: 69,123,177 (GRCm39)	V471A	probably benign	Het
H60b	T	A	10: 22,162,971 (GRCm39)	L182Q	probably benign	Het
Hbp1	G	A	12: 31,987,625 (GRCm39)	H188Y	probably damaging	Het
Itga4	C	T	2: 79,151,783 (GRCm39)	T862I	probably benign	Het
Kcnmb4	T	A	10: 116,254,158 (GRCm39)	K206N	probably damaging	Het
Klra4	A	G	6: 130,042,243 (GRCm39)	F8S	possibly damaging	Het
Mrpl2	C	A	17: 46,958,435 (GRCm39)	Y72*	probably null	Het
Nars2	C	A	7: 96,600,845 (GRCm39)		probably benign	Het
Nup214	T	C	2: 31,886,458 (GRCm39)	S607P	possibly damaging	Het
Oas1d	C	T	5: 121,057,221 (GRCm39)	R276*	probably null	Het
Or12d13	C	T	17: 37,647,587 (GRCm39)	V179I	probably benign	Het
Or1l8	T	A	2: 36,818,018 (GRCm39)	Y36F	probably damaging	Het
Or2t1	T	A	14: 14,329,011 (GRCm38)	L300Q	possibly damaging	Het
Or2y1b	A	G	11: 49,209,002 (GRCm39)	T210A	probably benign	Het
Pex13	A	G	11: 23,605,685 (GRCm39)	S182P	possibly damaging	Het
Piwil4	G	T	9: 14,638,774 (GRCm39)	N297K	probably benign	Het
Plxna4	T	C	6: 32,129,789 (GRCm39)	T1845A	probably benign	Het
Pml	T	C	9: 58,136,643 (GRCm39)	N579D	probably benign	Het
Ppl	A	G	16: 4,950,201 (GRCm39)	S3P	probably damaging	Het
Pramel16	G	T	4: 143,676,695 (GRCm39)	D136E	possibly damaging	Het
Prss54	G	A	8: 96,285,994 (GRCm39)	Q360*	probably null	Het
Ralgps2	A	G	1: 156,655,718 (GRCm39)	I402T	probably benign	Het
Rnf213	T	A	11: 119,318,909 (GRCm39)	D1123E		Het
Sdha	A	T	13: 74,479,416 (GRCm39)		probably null	Het
Senp8	G	A	9: 59,644,814 (GRCm39)	T114I		Het
Setx	C	T	2: 29,035,348 (GRCm39)	T611I	possibly damaging	Het
Shc1	T	G	3: 89,329,215 (GRCm39)	S20A	possibly damaging	Het
Snrk	A	G	9: 121,989,538 (GRCm39)	E294G	probably damaging	Het
Sox18	G	A	2: 181,312,751 (GRCm39)	P127S	probably damaging	Het
Spta1	A	G	1: 174,007,387 (GRCm39)	T206A	probably benign	Het
Tcfl5	A	G	2: 180,280,330 (GRCm39)	S358P	probably benign	Het
Tecta	T	A	9: 42,289,325 (GRCm39)	L413F	possibly damaging	Het
Tlk1	T	C	2: 70,544,365 (GRCm39)	T757A	probably benign	Het
Tmem232	T	A	17: 65,709,990 (GRCm39)	I433F	probably damaging	Het
Top1mt	T	A	15: 75,539,712 (GRCm39)	K300*	probably null	Het
Trbv20	C	T	6: 41,165,782 (GRCm39)	A69V	probably damaging	Het
Trim12a	A	T	7: 103,955,282 (GRCm39)	L147Q	probably damaging	Het
Tuba8	G	A	6: 121,199,736 (GRCm39)	S140N	probably damaging	Het
Vcan	A	T	13: 89,852,454 (GRCm39)	N835K	possibly damaging	Het
Xrcc1	G	A	7: 24,271,703 (GRCm39)	R562H	probably damaging	Het
Yipf7	C	T	5: 69,674,539 (GRCm39)	G202D	probably benign	Het
Ythdc1	T	G	5: 86,964,325 (GRCm39)	S45A	probably benign	Het
Zfp1002	T	C	2: 150,097,276 (GRCm39)		probably benign	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
IGL02514:Slc15a1	APN	14	121,724,452 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CAACTTAGTCCATTGAACCACCTTC -3'
(R):5'- TGGGAGTCCTCAGTTTTACCTAG -3'

Sequencing Primer
(F):5'- CACCTTCTATACATTACTGAGTAGGG -3'
(R):5'- CCTAGTTTTGGAAAATGGGTAGAAAC -3'

Posted On

2020-07-28