Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03038:Slc47a1'

408803

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc47a1

Ensembl Gene

ENSMUSG00000010122

Gene Name

solute carrier family 47, member 1

Synonyms

mMATE1, 1300013J15Rik, MATE1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03038

Quality Score

Status

Chromosome

Chromosomal Location

61343401-61378345 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 61353092 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 384 (V384M)

Ref Sequence

ENSEMBL: ENSMUSP00000010267 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010267] [ENSMUST00000131723]

AlphaFold

Q8K0H1

Predicted Effect

probably benign
Transcript: ENSMUST00000010267
AA Change: V384M

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000010267
Gene: ENSMUSG00000010122
AA Change: V384M

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Pfam:MatE	44	204	4.8e-34	PFAM
low complexity region	225	236	N/A	INTRINSIC
Pfam:MatE	265	426	1.6e-32	PFAM
low complexity region	442	452	N/A	INTRINSIC
transmembrane domain	545	564	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131723

SMART Domains

Protein: ENSMUSP00000115132
Gene: ENSMUSG00000010122

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Pfam:MatE	44	180	2.7e-29	PFAM

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 is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased blood urea nitrogen, increased circulating creatinine, and abnormal metformin pahrmacokinetics including increased plasma and tissue concentration with decreased kidney and liver clearance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	T	C	7: 131,428,456	Y111H	probably damaging	Het
Arhgef6	C	T	X: 57,245,606	V262I	probably benign	Het
Arsk	C	A	13: 76,065,513		probably benign	Het
Ces1b	T	C	8: 93,067,052	E303G	probably benign	Het
Chst9	T	C	18: 15,495,303	Q55R	probably benign	Het
Cntnap3	A	T	13: 64,741,025	D1153E	possibly damaging	Het
D130043K22Rik	A	G	13: 24,879,619	E681G	probably damaging	Het
Fhad1	T	C	4: 142,002,494	E66G	probably benign	Het
Flii	T	C	11: 60,724,832	T69A	probably benign	Het
Foxl1	A	C	8: 121,128,419	E153A	probably damaging	Het
Gstm3	T	C	3: 107,966,169	D162G	possibly damaging	Het
Gtpbp3	G	A	8: 71,489,303	V96I	possibly damaging	Het
Insig2	G	A	1: 121,319,674	T56I	probably damaging	Het
Kif13a	A	G	13: 46,772,838	L264P	probably damaging	Het
Lama3	T	G	18: 12,419,250	C420G	probably damaging	Het
Lrp2	C	T	2: 69,475,464	G2918S	probably damaging	Het
Lrrc8b	T	C	5: 105,481,492	L568P	probably damaging	Het
Lyl1	C	T	8: 84,702,671	P3L	possibly damaging	Het
Malrd1	G	A	2: 16,127,967	D1900N	unknown	Het
Mastl	C	A	2: 23,140,615		probably benign	Het
Med24	T	G	11: 98,716,184	T276P	possibly damaging	Het
Naip1	A	C	13: 100,437,333	Y239*	probably null	Het
Nhsl2	A	G	X: 102,078,885	K765E	probably damaging	Het
Npy	A	G	6: 49,823,608	N4S	probably benign	Het
Nsun2	A	G	13: 69,619,584	D188G	probably damaging	Het
Olfr794	A	G	10: 129,570,921	T89A	probably benign	Het
Pde1a	C	A	2: 79,887,946		probably benign	Het
Pik3cb	G	A	9: 99,065,597	A509V	probably damaging	Het
Pou2f2	C	T	7: 25,097,152	S315N	probably damaging	Het
Prdm2	A	C	4: 143,134,001	S906R	probably damaging	Het
Prkaca	C	A	8: 83,994,951	Q300K	probably benign	Het
Prox2	T	C	12: 85,095,264	D55G	possibly damaging	Het
Ryr3	T	A	2: 112,668,120	T3612S	possibly damaging	Het
S1pr1	T	A	3: 115,712,694	I84L	possibly damaging	Het
Slc6a20b	T	C	9: 123,597,329	N497S	possibly damaging	Het
Spen	C	A	4: 141,538,239	R3L	unknown	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Ttll6	T	C	11: 96,151,960	F444S	probably damaging	Het
Vwce	T	A	19: 10,646,671	Y309N	possibly damaging	Het
Vwf	T	C	6: 125,604,157	L586P	possibly damaging	Het
Wdr35	T	C	12: 8,974,185		probably benign	Het

Other mutations in Slc47a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02333:Slc47a1	APN	11	61370124	missense	probably damaging	1.00
IGL02399:Slc47a1	APN	11	61363058	missense	probably damaging	1.00
IGL02586:Slc47a1	APN	11	61344321	missense	probably benign	0.14
IGL02832:Slc47a1	APN	11	61363413	missense	probably benign	0.01
IGL02873:Slc47a1	APN	11	61362817	unclassified	probably benign
R0392:Slc47a1	UTSW	11	61371782	missense	probably damaging	1.00
R0927:Slc47a1	UTSW	11	61373422	missense	probably damaging	0.96
R1255:Slc47a1	UTSW	11	61370148	missense	probably damaging	1.00
R1507:Slc47a1	UTSW	11	61359518	critical splice donor site	probably null
R1625:Slc47a1	UTSW	11	61371799	missense	probably damaging	1.00
R2029:Slc47a1	UTSW	11	61378007	intron	probably benign
R2137:Slc47a1	UTSW	11	61344492	missense	probably benign	0.21
R2434:Slc47a1	UTSW	11	61367722	splice site	probably null
R3115:Slc47a1	UTSW	11	61367680	missense	possibly damaging	0.88
R3752:Slc47a1	UTSW	11	61344381	missense	possibly damaging	0.84
R3839:Slc47a1	UTSW	11	61353058	splice site	probably benign
R4499:Slc47a1	UTSW	11	61359529	missense	probably benign
R4516:Slc47a1	UTSW	11	61344513	missense	probably benign
R4675:Slc47a1	UTSW	11	61363031	missense	probably benign	0.41
R4727:Slc47a1	UTSW	11	61363451	missense	possibly damaging	0.48
R4839:Slc47a1	UTSW	11	61373350	splice site	probably null
R4869:Slc47a1	UTSW	11	61362694	missense	probably benign	0.02
R5164:Slc47a1	UTSW	11	61353060	splice site	probably null
R5633:Slc47a1	UTSW	11	61369261	missense	probably damaging	1.00
R5957:Slc47a1	UTSW	11	61344342	missense	probably benign	0.06
R6793:Slc47a1	UTSW	11	61359403	missense	probably benign
R6952:Slc47a1	UTSW	11	61344454	missense	probably benign	0.04
R7082:Slc47a1	UTSW	11	61377941	missense	probably benign	0.04
R7923:Slc47a1	UTSW	11	61363403	missense	probably damaging	1.00
R8818:Slc47a1	UTSW	11	61370229	missense	probably benign	0.17
R9050:Slc47a1	UTSW	11	61344334	missense	probably benign	0.03
R9062:Slc47a1	UTSW	11	61363098	missense	probably benign	0.00
R9080:Slc47a1	UTSW	11	61373393	missense	possibly damaging	0.94
R9215:Slc47a1	UTSW	11	61371821	missense	probably benign	0.00
R9239:Slc47a1	UTSW	11	61359518	critical splice donor site	probably null

Posted On

2016-08-02