Mutagenetix > Incidental Mutation

Incidental Mutation 'R5957:Slc47a1'

471235

Institutional Source

Beutler Lab

Gene Symbol

Slc47a1

Ensembl Gene

ENSMUSG00000010122

Gene Name

solute carrier family 47, member 1

Synonyms

mMATE1, 1300013J15Rik, MATE1

MMRRC Submission

043246-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5957 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61343401-61378345 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61344342 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 555 (V555A)

Ref Sequence

ENSEMBL: ENSMUSP00000010267 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010267] [ENSMUST00000093029] [ENSMUST00000131723] [ENSMUST00000134423]

AlphaFold

Q8K0H1

Predicted Effect

probably benign
Transcript: ENSMUST00000010267
AA Change: V555A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000010267
Gene: ENSMUSG00000010122
AA Change: V555A

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: ENSMUST00000093029

SMART Domains

Protein: ENSMUSP00000090710
Gene: ENSMUSG00000069855

Domain	Start	End	E-Value	Type
low complexity region	22	34	N/A	INTRINSIC
Pfam:MatE	53	213	1.7e-35	PFAM
transmembrane domain	227	246	N/A	INTRINSIC
Pfam:MatE	274	435	4e-34	PFAM
transmembrane domain	444	466	N/A	INTRINSIC
transmembrane domain	545	567	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

Predicted Effect

probably benign
Transcript: ENSMUST00000134423

SMART Domains

Protein: ENSMUSP00000120907
Gene: ENSMUSG00000069855

Domain	Start	End	E-Value	Type
low complexity region	22	34	N/A	INTRINSIC
Pfam:MatE	53	213	3.5e-32	PFAM
transmembrane domain	227	246	N/A	INTRINSIC
Pfam:MatE	274	435	1.7e-36	PFAM
transmembrane domain	444	466	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147450

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.0%

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
1110002E22Rik	A	G	3: 138,070,161	T1704A	probably benign	Het
Adgrg7	T	A	16: 56,773,427	N142I	probably damaging	Het
Aldh18a1	A	T	19: 40,570,537	Y286*	probably null	Het
Armc4	T	C	18: 7,285,706	E219G	probably benign	Het
Arpp21	T	C	9: 112,185,686	T17A	probably benign	Het
Atp5s	T	C	12: 69,743,784	V185A	probably benign	Het
Bnip2	T	C	9: 69,999,238	I147T	probably damaging	Het
Ccr8	T	C	9: 120,093,827	Y3H	probably damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Cul7	G	A	17: 46,657,757	G553S	probably damaging	Het
Cyp21a1	A	G	17: 34,803,176	I206T	probably benign	Het
Dennd4b	A	G	3: 90,270,965	D488G	probably damaging	Het
Dip2b	T	C	15: 100,209,694	L1195P	probably benign	Het
Dock5	T	A	14: 67,857,994	H77L	probably benign	Het
Fbxw13	C	T	9: 109,192,666		probably null	Het
Fmnl3	G	A	15: 99,325,910	R302W	probably damaging	Het
Gbf1	G	T	19: 46,246,221		probably null	Het
Gm12794	T	C	4: 101,941,701	F290L	probably benign	Het
Gm4846	T	C	1: 166,486,953	I374V	probably benign	Het
Gsk3b	C	A	16: 38,193,953	P258T	probably damaging	Het
Igsf5	T	C	16: 96,364,049	V8A	probably benign	Het
Il22	T	A	10: 118,205,166	L59Q	probably damaging	Het
Ildr1	T	C	16: 36,725,534	*517Q	probably null	Het
Iqca	T	A	1: 90,080,948	D450V	probably damaging	Het
Itga5	T	C	15: 103,351,429	D647G	probably benign	Het
Myh7	T	G	14: 54,989,078	N408T	probably damaging	Het
Mylk3	T	C	8: 85,328,637	M564V	probably damaging	Het
Nsd2	T	A	5: 33,855,603	M407K	probably damaging	Het
Oprd1	C	T	4: 132,144,163	V75I	probably benign	Het
Poli	G	A	18: 70,517,440	H310Y	probably benign	Het
Ptch1	C	T	13: 63,525,115	R755H	probably damaging	Het
Pygl	A	T	12: 70,199,720	M351K	probably damaging	Het
Serpinb9b	T	C	13: 33,039,848	L341P	possibly damaging	Het
Slc8a2	C	A	7: 16,145,284	T565K	possibly damaging	Het
Snx14	T	C	9: 88,403,274	I446V	possibly damaging	Het
Syde1	T	C	10: 78,590,117	Y72C	probably damaging	Het
Trim37	C	T	11: 87,145,551	R138C	probably damaging	Het
Tubgcp5	T	A	7: 55,814,962	S530R	probably benign	Het
Vps13c	T	C	9: 67,954,971	S2957P	probably damaging	Het
Wdr41	T	C	13: 94,997,187		probably null	Het
Zyg11b	T	C	4: 108,245,013	K504E	probably damaging	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
IGL03038:Slc47a1	APN	11	61353092	missense	probably benign	0.14
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
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
R9802:Slc47a1	UTSW	11	61349516	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGTTAGAGGGCCCAGAACATG -3'
(R):5'- AAGCTACTCACTAAGACCCCTTTTC -3'

Sequencing Primer
(F):5'- CCAGAACATGCTGAACATATTGCTG -3'
(R):5'- ACAGTGTGTCCTGAGAGCCATG -3'

Posted On

2017-03-31