Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02058:Slc52a3'

185295

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc52a3

Ensembl Gene

ENSMUSG00000027463

Gene Name

solute carrier protein family 52, member 3

Synonyms

2310046K01Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02058

Quality Score

Status

Chromosome

Chromosomal Location

151838431-151851178 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 151847811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 306 (N306K)

Ref Sequence

ENSEMBL: ENSMUSP00000105487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073228] [ENSMUST00000109858] [ENSMUST00000109859] [ENSMUST00000109861]

AlphaFold

Q9D6X5

Predicted Effect

probably damaging
Transcript: ENSMUST00000073228
AA Change: N306K

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

SMART Domains

Protein: ENSMUSP00000072961
Gene: ENSMUSG00000027463
AA Change: N306K

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	39	61	N/A	INTRINSIC
transmembrane domain	74	96	N/A	INTRINSIC
transmembrane domain	106	128	N/A	INTRINSIC
transmembrane domain	141	163	N/A	INTRINSIC
transmembrane domain	210	232	N/A	INTRINSIC
Pfam:DUF1011	285	386	7.6e-47	PFAM
transmembrane domain	390	412	N/A	INTRINSIC
transmembrane domain	419	441	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109858

SMART Domains

Protein: ENSMUSP00000105484
Gene: ENSMUSG00000027463

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	39	61	N/A	INTRINSIC
transmembrane domain	74	96	N/A	INTRINSIC
transmembrane domain	106	128	N/A	INTRINSIC
transmembrane domain	135	157	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109859

SMART Domains

Protein: ENSMUSP00000105485
Gene: ENSMUSG00000027463

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	39	61	N/A	INTRINSIC
transmembrane domain	74	96	N/A	INTRINSIC
transmembrane domain	106	128	N/A	INTRINSIC
transmembrane domain	135	157	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109861
AA Change: N306K

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

SMART Domains

Protein: ENSMUSP00000105487
Gene: ENSMUSG00000027463
AA Change: N306K

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	39	61	N/A	INTRINSIC
transmembrane domain	74	96	N/A	INTRINSIC
transmembrane domain	106	128	N/A	INTRINSIC
transmembrane domain	141	163	N/A	INTRINSIC
transmembrane domain	210	232	N/A	INTRINSIC
Pfam:DUF1011	288	386	1.1e-42	PFAM
transmembrane domain	390	412	N/A	INTRINSIC
transmembrane domain	419	441	N/A	INTRINSIC

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 a riboflavin transporter protein that is strongly expressed in the intestine and likely plays a role in intestinal absorption of riboflavin. The protein is predicted to have eleven transmembrane domains and a cell surface localization signal in the C-terminus. Mutations at this locus have been associated with Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal placental riboflavin transport and sudden neonatal death associated with hyperlipidemia and hypoglycemia due to riboflavin deficiency. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	A	2: 69,073,842 (GRCm39)	A1228S	probably damaging	Het
Adamts12	G	A	15: 11,215,696 (GRCm39)	R239K	probably benign	Het
Akap6	A	G	12: 53,187,338 (GRCm39)	D1584G	probably damaging	Het
Asns	A	G	6: 7,685,184 (GRCm39)	C158R	probably damaging	Het
Atr	T	C	9: 95,753,540 (GRCm39)	L714P	probably damaging	Het
Ccdc126	G	T	6: 49,311,134 (GRCm39)	E47D	probably benign	Het
Cemip	T	C	7: 83,646,500 (GRCm39)	S183G	probably damaging	Het
Cntn3	A	G	6: 102,176,321 (GRCm39)		probably benign	Het
Cyp11b2	G	T	15: 74,725,038 (GRCm39)	N270K	probably benign	Het
Ephx2	A	G	14: 66,341,173 (GRCm39)		probably null	Het
Fcho2	G	A	13: 98,867,414 (GRCm39)	T683I	probably damaging	Het
Grm7	G	A	6: 111,335,278 (GRCm39)	C563Y	probably damaging	Het
Hmcn1	T	C	1: 150,579,932 (GRCm39)	N1935S	probably benign	Het
Hus1b	A	G	13: 31,130,900 (GRCm39)	L253S	probably benign	Het
Kmt5b	T	C	19: 3,843,181 (GRCm39)	Y93H	probably damaging	Het
Krt73	A	T	15: 101,710,456 (GRCm39)	S93T	probably benign	Het
Lrp8	T	C	4: 107,727,306 (GRCm39)	V917A	probably benign	Het
Map2k6	C	T	11: 110,383,409 (GRCm39)	T106M	probably damaging	Het
Ncor1	A	G	11: 62,235,463 (GRCm39)	S664P	probably damaging	Het
Nmt1	C	T	11: 102,943,116 (GRCm39)	T157I	probably benign	Het
Nup160	T	C	2: 90,560,051 (GRCm39)	S1259P	probably damaging	Het
Pak1	C	T	7: 97,560,322 (GRCm39)	A523V	probably damaging	Het
Parpbp	A	C	10: 87,979,898 (GRCm39)	S19R	probably benign	Het
Pdzd2	G	T	15: 12,376,382 (GRCm39)	T1251N	possibly damaging	Het
Phaf1	T	A	8: 105,966,341 (GRCm39)	I105N	probably damaging	Het
Pitpnm3	A	T	11: 72,010,965 (GRCm39)	N22K	probably benign	Het
Pkn1	G	T	8: 84,407,854 (GRCm39)	C418*	probably null	Het
Pkn2	A	G	3: 142,509,424 (GRCm39)	F723L	probably damaging	Het
Pkp4	C	T	2: 59,142,073 (GRCm39)	R459*	probably null	Het
Prex1	A	C	2: 166,427,103 (GRCm39)	S871A	probably benign	Het
Ptprz1	A	G	6: 23,002,502 (GRCm39)	T1531A	probably benign	Het
Rad1	C	A	15: 10,493,361 (GRCm39)	Q263K	probably benign	Het
Sh2d6	C	A	6: 72,490,961 (GRCm39)	G307*	probably null	Het
Spock3	A	T	8: 63,698,232 (GRCm39)	R195*	probably null	Het
Stil	A	G	4: 114,871,359 (GRCm39)	S310G	probably benign	Het
Wbp1l	T	A	19: 46,640,959 (GRCm39)	C80*	probably null	Het
Wnt2b	A	G	3: 104,854,408 (GRCm39)	V350A	probably benign	Het

Other mutations in Slc52a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01391:Slc52a3	APN	2	151,849,522 (GRCm39)	missense	probably benign	0.41
IGL01511:Slc52a3	APN	2	151,846,564 (GRCm39)	missense	probably benign	0.00
IGL02271:Slc52a3	APN	2	151,847,448 (GRCm39)	splice site	probably benign
R0238:Slc52a3	UTSW	2	151,850,076 (GRCm39)	makesense	probably null
R0238:Slc52a3	UTSW	2	151,850,076 (GRCm39)	makesense	probably null
R0239:Slc52a3	UTSW	2	151,850,076 (GRCm39)	makesense	probably null
R0239:Slc52a3	UTSW	2	151,850,076 (GRCm39)	makesense	probably null
R0352:Slc52a3	UTSW	2	151,849,433 (GRCm39)	nonsense	probably null
R3727:Slc52a3	UTSW	2	151,847,701 (GRCm39)	missense	probably benign	0.00
R4272:Slc52a3	UTSW	2	151,847,660 (GRCm39)	missense	possibly damaging	0.87
R4273:Slc52a3	UTSW	2	151,847,660 (GRCm39)	missense	possibly damaging	0.87
R6267:Slc52a3	UTSW	2	151,849,529 (GRCm39)	splice site	probably null
R7265:Slc52a3	UTSW	2	151,846,336 (GRCm39)	missense	possibly damaging	0.78
R7409:Slc52a3	UTSW	2	151,846,086 (GRCm39)	missense	probably damaging	1.00
R7634:Slc52a3	UTSW	2	151,846,534 (GRCm39)	missense	possibly damaging	0.49
R8697:Slc52a3	UTSW	2	151,846,396 (GRCm39)	missense	probably damaging	1.00
R8822:Slc52a3	UTSW	2	151,846,513 (GRCm39)	missense	probably benign
R9243:Slc52a3	UTSW	2	151,846,512 (GRCm39)	missense	probably benign
R9443:Slc52a3	UTSW	2	151,846,299 (GRCm39)	missense	probably benign

Posted On

2014-05-07