Mutagenetix > Incidental Mutation

Incidental Mutation 'R4273:Slc52a3'

322250

Institutional Source

Beutler Lab

Gene Symbol

Slc52a3

Ensembl Gene

ENSMUSG00000027463

Gene Name

solute carrier protein family 52, member 3

Synonyms

2310046K01Rik

MMRRC Submission

041645-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4273 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

151838431-151851178 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 151847660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 256 (I256N)

Ref Sequence

ENSEMBL: ENSMUSP00000105487 (fasta)

Gene Model

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

AlphaFold

Q9D6X5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073228
AA Change: I256N

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000072961
Gene: ENSMUSG00000027463
AA Change: I256N

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

possibly damaging
Transcript: ENSMUST00000109861
AA Change: I256N

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105487
Gene: ENSMUSG00000027463
AA Change: I256N

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

Meta Mutation Damage Score

0.1133

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.1%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	T	A	4: 86,792,835 (GRCm39)		probably null	Het
Adgrf2	T	A	17: 43,021,013 (GRCm39)	T604S	probably damaging	Het
Akap8l	T	A	17: 32,540,905 (GRCm39)	K533*	probably null	Het
Appbp2	T	C	11: 85,125,502 (GRCm39)	Y45C	probably damaging	Het
Arap2	T	C	5: 62,828,322 (GRCm39)	I950V	possibly damaging	Het
Arhgap31	T	C	16: 38,422,697 (GRCm39)	E1123G	possibly damaging	Het
Atp2c1	G	T	9: 105,312,339 (GRCm39)	N493K	probably benign	Het
Bcr	T	C	10: 74,960,943 (GRCm39)	I458T	probably damaging	Het
Brd4	G	A	17: 32,433,756 (GRCm39)	T468I	probably benign	Het
Cdh23	T	A	10: 60,146,940 (GRCm39)	D2774V	possibly damaging	Het
Cfdp1	T	C	8: 112,495,417 (GRCm39)	Y267C	probably damaging	Het
Chd6	C	A	2: 160,803,211 (GRCm39)	A2156S	probably benign	Het
Dazap2	C	A	15: 100,515,971 (GRCm39)	P100T	probably damaging	Het
Disp1	T	A	1: 182,869,208 (GRCm39)	I1071F	possibly damaging	Het
Dlgap1	T	A	17: 71,073,038 (GRCm39)	S686T	probably benign	Het
Dst	C	T	1: 34,231,421 (GRCm39)	R3183C	possibly damaging	Het
Enpp4	T	C	17: 44,412,698 (GRCm39)	N279D	probably benign	Het
Exoc3l	T	C	8: 106,016,593 (GRCm39)	*740W	probably null	Het
Exoc5	A	T	14: 49,252,937 (GRCm39)	C625*	probably null	Het
Fam98b	A	T	2: 117,090,712 (GRCm39)	N137Y	possibly damaging	Het
Fat4	T	A	3: 38,945,776 (GRCm39)	D1556E	probably damaging	Het
Fcer2a	C	A	8: 3,732,848 (GRCm39)	V319L	possibly damaging	Het
Fer1l6	T	C	15: 58,499,371 (GRCm39)	V1247A	probably benign	Het
Fmo4	A	G	1: 162,632,748 (GRCm39)	V201A	probably damaging	Het
Fras1	G	A	5: 96,762,763 (GRCm39)	G755D	probably benign	Het
Grid2	T	C	6: 63,886,029 (GRCm39)	Y142H	probably damaging	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Ibtk	T	C	9: 85,608,784 (GRCm39)	Q376R	probably damaging	Het
Impdh2	T	C	9: 108,442,155 (GRCm39)	M414T	probably damaging	Het
Itm2c	A	G	1: 85,834,750 (GRCm39)	T160A	probably damaging	Het
Kcna2	T	A	3: 107,012,509 (GRCm39)	D363E	probably benign	Het
Lama2	C	T	10: 27,223,050 (GRCm39)	C412Y	probably damaging	Het
Lims2	C	G	18: 32,089,390 (GRCm39)	T151S	probably benign	Het
Mier1	T	C	4: 103,019,628 (GRCm39)	S423P	possibly damaging	Het
Mrgpra3	A	T	7: 47,239,180 (GRCm39)	W249R	probably benign	Het
Mtor	A	G	4: 148,634,609 (GRCm39)	H2410R	probably benign	Het
Mvp	C	T	7: 126,588,875 (GRCm39)	A631T	probably benign	Het
Nepro	T	C	16: 44,556,192 (GRCm39)	V450A	possibly damaging	Het
Ngrn	T	C	7: 79,914,269 (GRCm39)	V140A	probably damaging	Het
Nobox	T	C	6: 43,282,942 (GRCm39)	E231G	probably benign	Het
Or10al7	A	T	17: 38,366,163 (GRCm39)	I98N	probably damaging	Het
P3h2	T	A	16: 25,923,971 (GRCm39)	I155F	probably benign	Het
Pcdha3	C	T	18: 37,081,144 (GRCm39)	R629C	probably damaging	Het
Pramel24	A	T	4: 143,453,416 (GRCm39)	K175*	probably null	Het
Riok3	AGAAGCGG	AG	18: 12,268,998 (GRCm39)		probably benign	Het
Rttn	T	C	18: 89,110,020 (GRCm39)	I1675T	probably benign	Het
Sall2	C	A	14: 52,551,260 (GRCm39)	R643L	probably damaging	Het
Slc35f4	G	T	14: 49,541,758 (GRCm39)	T182N	possibly damaging	Het
Sox9	T	C	11: 112,675,980 (GRCm39)	S390P	possibly damaging	Het
Tango2	T	C	16: 18,120,654 (GRCm39)		probably benign	Het
Tas1r1	T	C	4: 152,116,614 (GRCm39)	E340G	possibly damaging	Het
Tek	G	A	4: 94,718,207 (GRCm39)	G524R	probably damaging	Het
Tmem260	A	T	14: 48,742,761 (GRCm39)	Y532F	probably benign	Het
Tsks	C	A	7: 44,607,353 (GRCm39)	L559I	probably damaging	Het
Unc79	C	A	12: 103,088,612 (GRCm39)	L1702I	probably damaging	Het
Vmn1r14	T	A	6: 57,211,133 (GRCm39)	I237N	probably damaging	Het
Vmn2r17	G	A	5: 109,600,832 (GRCm39)	C710Y	probably benign	Het
Zfp119b	G	T	17: 56,245,926 (GRCm39)	T420K	possibly damaging	Het
Zfp202	C	T	9: 40,118,790 (GRCm39)	R68*	probably null	Het
Zfp229	T	A	17: 21,965,802 (GRCm39)	S677R	probably benign	Het
Zfp462	C	T	4: 55,008,411 (GRCm39)	H126Y	probably benign	Het
Zfp52	C	A	17: 21,780,459 (GRCm39)	Y102*	probably null	Het
Zfp616	T	A	11: 73,974,526 (GRCm39)	M265K	probably benign	Het
Zfyve9	A	T	4: 108,538,173 (GRCm39)	I1031N	probably damaging	Het
Zmynd11	T	C	13: 9,747,726 (GRCm39)	Y203C	probably damaging	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
IGL02058:Slc52a3	APN	2	151,847,811 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GAAACCTTAGCCCTTCCCTG -3'
(R):5'- TGATCCCCACTAGAGTTCCCTG -3'

Sequencing Primer
(F):5'- CCCAGCTGGCACCAGGAG -3'
(R):5'- ACTAGAGTTCCCTGGGTCG -3'

Posted On

2015-06-20