Mutagenetix > Incidental Mutation

Incidental Mutation 'R8427:Wfs1'

653514

Institutional Source

Beutler Lab

Gene Symbol

Wfs1

Ensembl Gene

ENSMUSG00000039474

Gene Name

wolframin ER transmembrane glycoprotein

Synonyms

wolframin

MMRRC Submission

Accession Numbers

Genbank: NM_011716; MGI: 1328355

Essential gene?

Possibly non essential (E-score: 0.423) question?

Stock #

R8427 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36966104-36989205 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 36968087 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 487 (G487C)

Ref Sequence

ENSEMBL: ENSMUSP00000048053 (fasta)

Gene Model

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

AlphaFold

P56695

Predicted Effect

probably damaging
Transcript: ENSMUST00000043964
AA Change: G487C

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

SMART Domains

Protein: ENSMUSP00000048053
Gene: ENSMUSG00000039474
AA Change: G487C

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 damaging
Transcript: ENSMUST00000166339
AA Change: G411C

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132404
Gene: ENSMUSG00000039474
AA Change: G411C

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	G	T	12: 72,903,286	S271R	possibly damaging	Het
Adrb2	A	G	18: 62,179,274	V160A	possibly damaging	Het
Atp13a5	T	C	16: 29,349,002	D113G	possibly damaging	Het
B4galt7	T	A	13: 55,609,325	V312D	possibly damaging	Het
Bccip	A	G	7: 133,709,491	D45G	probably benign	Het
Bcl2l2	A	G	14: 54,885,403	Y151C	probably damaging	Het
Ccdc146	T	C	5: 21,399,792	E16G	unknown	Het
Cdr2l	C	A	11: 115,394,039	D400E	probably damaging	Het
Celsr2	A	C	3: 108,392,633	*2920E	probably null	Het
Cib1	A	G	7: 80,228,001	F183L	probably damaging	Het
Cnot1	A	G	8: 95,734,324	Y1716H	probably benign	Het
Copb1	A	G	7: 114,226,754	V665A	probably benign	Het
Crmp1	C	T	5: 37,291,195	T683I	probably damaging	Het
Cubn	G	C	2: 13,428,756	F1114L	probably benign	Het
Dab2	A	T	15: 6,429,359	R251*	probably null	Het
Ddx28	A	G	8: 106,010,280	V382A	probably benign	Het
Eml1	C	A	12: 108,530,321	T612K	probably damaging	Het
Hoxb3	CGGCGGTGGCGG	CGGCGGTGGCGGTGGCGG	11: 96,345,589		probably benign	Het
Hoxb3	TGGCGG	TGGCGGAGGCGG	11: 96,345,595		probably benign	Het
Iapp	T	A	6: 142,298,886	I13N	probably damaging	Het
Ifit1bl1	A	T	19: 34,599,266		probably null	Het
Itgb4	T	A	11: 115,991,718		probably null	Het
Kcnh3	T	C	15: 99,227,053	V128A	probably benign	Het
Kmt2a	A	G	9: 44,845,423	F1176L	probably damaging	Het
Lifr	A	G	15: 7,190,981	T1031A	probably benign	Het
Lrp2	T	C	2: 69,451,297	D3910G	probably damaging	Het
Man1a2	A	T	3: 100,684,685	S60T	probably benign	Het
Mdh1	C	T	11: 21,564,138	R93K	probably benign	Het
Mical1	G	T	10: 41,478,595	K142N	probably damaging	Het
Nf2	T	A	11: 4,791,118	E365D	probably benign	Het
Nfrkb	A	G	9: 31,419,027	M1192V	probably benign	Het
Npas4	A	C	19: 4,986,080	D685E	probably benign	Het
Olfr1291-ps1	A	G	2: 111,499,965	T238A	probably damaging	Het
Olfr358	G	T	2: 37,004,782	Y277*	probably null	Het
Olfr747	T	A	14: 50,681,149	I162F	probably damaging	Het
Ovch2	G	A	7: 107,794,000	T222I	probably damaging	Het
Plat	G	T	8: 22,772,232	G91W	probably damaging	Het
Pld1	A	T	3: 28,088,646	I668F	probably damaging	Het
Plscr4	C	T	9: 92,490,790	R322*	probably null	Het
Ppa1	A	G	10: 61,660,925	D64G	possibly damaging	Het
Rnf133	T	C	6: 23,649,406	I175V	probably benign	Het
Rpp30	A	G	19: 36,094,412	I127V	probably benign	Het
Scube2	T	A	7: 109,800,590	H913L	probably damaging	Het
Sema6d	T	A	2: 124,665,277	S1045T	probably benign	Het
Skida1	A	T	2: 18,046,591	N496K	unknown	Het
Slc29a2	A	T	19: 5,030,420	I397F	probably benign	Het
Slc38a2	G	T	15: 96,692,413	R316S	probably damaging	Het
Slc40a1	A	C	1: 45,912,338	Y220D	probably damaging	Het
Strc	T	G	2: 121,377,531	H453P	probably damaging	Het
Tmprss3	T	A	17: 31,188,384	I312F	probably damaging	Het
Tnn	G	A	1: 160,130,686	T529I	probably damaging	Het
Tnr	A	T	1: 159,886,231	D743V	possibly damaging	Het
Trim42	A	T	9: 97,363,121	F542Y	probably benign	Het
Trpm2	A	T	10: 77,911,402	Y1421N	possibly damaging	Het
Ttn	T	C	2: 76,746,557	E24664G	probably damaging	Het
Ube2q2	T	C	9: 55,184,966		probably null	Het
Unc79	A	T	12: 103,079,038	R824S	probably benign	Het
V1ra8	A	G	6: 90,203,577	D254G	probably damaging	Het
Vmn1r173	A	T	7: 23,702,534	I65F	probably damaging	Het
Vmn2r16	T	A	5: 109,340,272	M337K	probably benign	Het
Xdh	T	C	17: 73,935,931	Y127C	probably damaging	Het
Zfp229	T	C	17: 21,746,834	S682P	probably damaging	Het
Zscan4-ps1	A	T	7: 11,068,520	D117E	possibly damaging	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
R0533:Wfs1	UTSW	5	36973722	splice site	probably benign
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
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'- TGACCACGGACAGTTCACAC -3'
(R):5'- TGGAGCCCTACATCCACTTC -3'

Sequencing Primer
(F):5'- GGACAGTTCACACCACATGAAG -3'
(R):5'- ACATCCACTTCCTACTGTCAGTCG -3'

Posted On

2020-10-20