Mutagenetix > Incidental Mutation

Incidental Mutation 'R0533:Wfs1'

49313

Institutional Source

Beutler Lab

Gene Symbol

Wfs1

Ensembl Gene

ENSMUSG00000039474

Gene Name

wolframin ER transmembrane glycoprotein

Synonyms

wolframin

MMRRC Submission

038725-MU

Accession Numbers

Genbank: NM_011716; MGI: 1328355

Essential gene?

Possibly essential (E-score: 0.506) question?

Stock #

R0533 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36966104-36989205 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 36973722 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043964] [ENSMUST00000166339]

AlphaFold

P56695

Predicted Effect

probably benign
Transcript: ENSMUST00000043964

SMART Domains

Protein: ENSMUSP00000048053
Gene: ENSMUSG00000039474

Domain	Start	End	E-Value	Type
low complexity region	6	23	N/A	INTRINSIC
low complexity region	50	67	N/A	INTRINSIC
Blast:SEL1	101	139	1e-8	BLAST
low complexity region	268	275	N/A	INTRINSIC
transmembrane domain	313	335	N/A	INTRINSIC
transmembrane domain	342	364	N/A	INTRINSIC
transmembrane domain	407	424	N/A	INTRINSIC
transmembrane domain	431	453	N/A	INTRINSIC
transmembrane domain	495	517	N/A	INTRINSIC
transmembrane domain	529	551	N/A	INTRINSIC
transmembrane domain	561	583	N/A	INTRINSIC
transmembrane domain	590	612	N/A	INTRINSIC
transmembrane domain	632	654	N/A	INTRINSIC
low complexity region	877	886	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166339

SMART Domains

Protein: ENSMUSP00000132404
Gene: ENSMUSG00000039474

Domain	Start	End	E-Value	Type
low complexity region	6	23	N/A	INTRINSIC
low complexity region	50	67	N/A	INTRINSIC
Blast:SEL1	101	139	3e-8	BLAST
low complexity region	268	275	N/A	INTRINSIC
low complexity region	334	345	N/A	INTRINSIC
transmembrane domain	419	441	N/A	INTRINSIC
transmembrane domain	453	475	N/A	INTRINSIC
transmembrane domain	485	507	N/A	INTRINSIC
transmembrane domain	514	536	N/A	INTRINSIC
transmembrane domain	556	578	N/A	INTRINSIC
low complexity region	801	810	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167937

SMART Domains

Protein: ENSMUSP00000125779
Gene: ENSMUSG00000039474

Domain	Start	End	E-Value	Type
Blast:SEL1	20	58	4e-9	BLAST

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

100% (57/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance. Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Targeted, knock-out(1) Targeted, other(3) Gene trapped(1)

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	G	8: 60,531,763		probably benign	Het
Abcb1b	A	T	5: 8,864,113		probably null	Het
Adcy10	A	G	1: 165,564,023	N1283S	probably benign	Het
Adgrb1	T	A	15: 74,541,559	W531R	probably damaging	Het
Ago4	A	G	4: 126,516,860	V246A	probably benign	Het
Arid5b	A	T	10: 68,186,033	D242E	probably damaging	Het
Arpp21	A	G	9: 112,126,505	V522A	probably benign	Het
Atg4b	T	A	1: 93,784,910		probably benign	Het
Capn12	T	C	7: 28,887,683	F359S	possibly damaging	Het
Ccdc88c	A	T	12: 100,954,282	I360N	probably damaging	Het
Clic3	A	G	2: 25,458,138	Y99C	probably damaging	Het
Cux1	T	C	5: 136,307,859	E925G	probably damaging	Het
Dnah10	G	A	5: 124,775,250		probably null	Het
Dnah17	A	G	11: 118,110,537	V860A	possibly damaging	Het
Etv5	C	T	16: 22,436,075		probably benign	Het
Fam83a	T	A	15: 58,009,811	N345K	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gm13089	G	T	4: 143,698,020	C284*	probably null	Het
Gpm6a	A	G	8: 55,055,374		probably null	Het
Grid1	T	A	14: 35,309,385	Y312N	possibly damaging	Het
Gstm4	T	C	3: 108,043,525	N51S	probably benign	Het
Hid1	A	T	11: 115,348,809	I765N	probably damaging	Het
Hmmr	A	G	11: 40,709,989	V518A	unknown	Het
Itgb6	A	G	2: 60,669,197	V84A	probably benign	Het
Kbtbd4	A	G	2: 90,907,604	K233E	probably benign	Het
Kif15	A	T	9: 123,009,433		probably benign	Het
Klre1	T	C	6: 129,583,193	S143P	probably damaging	Het
Krt81	T	C	15: 101,461,389	D216G	probably benign	Het
Mctp2	G	T	7: 72,080,822	H868Q	probably benign	Het
Morc2b	G	C	17: 33,135,932	Y955*	probably null	Het
Myog	A	C	1: 134,290,473	N140H	possibly damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Neil3	A	T	8: 53,638,775		probably null	Het
Nrg1	T	C	8: 31,831,245		probably null	Het
Olfr681	G	A	7: 105,122,350	V298I	probably benign	Het
Olfr689	A	T	7: 105,314,372	M123L	probably benign	Het
Olfr99	A	T	17: 37,280,291	L43*	probably null	Het
Pramef25	A	T	4: 143,950,720	D96E	possibly damaging	Het
Ptger2	T	A	14: 44,988,982	N6K	possibly damaging	Het
Ryr1	T	A	7: 29,078,780	E2097V	probably damaging	Het
Sel1l	A	T	12: 91,820,094	F397Y	probably damaging	Het
Skint5	A	G	4: 113,827,867	V551A	unknown	Het
Slc39a12	A	G	2: 14,400,331	T245A	probably benign	Het
Syne1	C	T	10: 5,358,438	V706I	probably benign	Het
Tbc1d8	G	T	1: 39,372,774	Q994K	possibly damaging	Het
Tnrc6b	C	T	15: 80,876,653	T187I	probably benign	Het
Ttll6	G	A	11: 96,154,756	A600T	probably benign	Het
Ust	T	C	10: 8,248,080		probably benign	Het
Vmn2r71	GT	GTT	7: 85,619,218		probably null	Het
Vstm2a	C	T	11: 16,263,041	A142V	probably damaging	Het
Wrap73	G	A	4: 154,151,649	G145D	probably damaging	Het
Wrap73	G	A	4: 154,156,154	V368M	possibly damaging	Het
Xrra1	T	A	7: 99,875,145		probably null	Het
Zfhx2	C	T	14: 55,064,090	V2146I	probably benign	Het
Zfp335	A	T	2: 164,907,922	L185*	probably null	Het

Other mutations in Wfs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01023:Wfs1	APN	5	36967917	nonsense	probably null
IGL01391:Wfs1	APN	5	36971563	missense	probably benign	0.10
IGL01788:Wfs1	APN	5	36968636	missense	probably benign	0.01
IGL02169:Wfs1	APN	5	36968479	missense	probably damaging	0.99
IGL02814:Wfs1	APN	5	36967669	missense	possibly damaging	0.88
IGL03294:Wfs1	APN	5	36975597	missense	probably damaging	1.00
IGL03299:Wfs1	APN	5	36968387	nonsense	probably null
2107:Wfs1	UTSW	5	36967273	missense	probably damaging	1.00
R0077:Wfs1	UTSW	5	36973194	missense	probably damaging	1.00
R0180:Wfs1	UTSW	5	36967028	missense	probably damaging	0.96
R0402:Wfs1	UTSW	5	36976980	unclassified	probably benign
R0458:Wfs1	UTSW	5	36968669	missense	probably damaging	0.98
R0890:Wfs1	UTSW	5	36975544	missense	probably damaging	1.00
R0948:Wfs1	UTSW	5	36967561	missense	probably damaging	1.00
R1413:Wfs1	UTSW	5	36982078	missense	possibly damaging	0.65
R1759:Wfs1	UTSW	5	36967015	missense	probably damaging	0.99
R2009:Wfs1	UTSW	5	36968309	missense	probably damaging	0.96
R2137:Wfs1	UTSW	5	36967501	missense	probably damaging	0.99
R2157:Wfs1	UTSW	5	36967942	missense	probably damaging	1.00
R2216:Wfs1	UTSW	5	36967220	nonsense	probably null
R3779:Wfs1	UTSW	5	36968624	missense	probably benign	0.01
R3850:Wfs1	UTSW	5	36968624	missense	probably benign	0.01
R3853:Wfs1	UTSW	5	36968624	missense	probably benign	0.01
R3918:Wfs1	UTSW	5	36968624	missense	probably benign	0.01
R4093:Wfs1	UTSW	5	36967465	missense	probably damaging	0.97
R5056:Wfs1	UTSW	5	36975587	missense	probably benign	0.00
R5849:Wfs1	UTSW	5	36973264	missense	probably damaging	1.00
R5997:Wfs1	UTSW	5	36967750	missense	probably damaging	0.99
R6666:Wfs1	UTSW	5	36967619	missense	possibly damaging	0.94
R7024:Wfs1	UTSW	5	36966950	missense	probably damaging	1.00
R7157:Wfs1	UTSW	5	36967172	missense	probably benign	0.00
R7264:Wfs1	UTSW	5	36967846	missense	probably damaging	1.00
R7269:Wfs1	UTSW	5	36967790	nonsense	probably null
R7365:Wfs1	UTSW	5	36967732	missense	probably benign	0.33
R7657:Wfs1	UTSW	5	36968234	missense	probably benign	0.01
R8422:Wfs1	UTSW	5	36973875	missense	probably benign	0.17
R8427:Wfs1	UTSW	5	36968087	missense	probably damaging	1.00
R8446:Wfs1	UTSW	5	36971609	missense	probably benign	0.00
R8949:Wfs1	UTSW	5	36966943	missense	probably damaging	0.99
R9673:Wfs1	UTSW	5	36967769	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATGTTCCGTGATGAGCACACCC -3'
(R):5'- AAGCAGCTATCCTCTGAGACCGAC -3'

Sequencing Primer
(F):5'- ATCATATAATGGGCACCCTGG -3'
(R):5'- CTCTGAGACCGACCTGGAAAG -3'

Posted On

2013-06-12