Incidental Mutation 'R4093:Wfs1'
| ID |
317718 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wfs1
|
| Ensembl Gene |
ENSMUSG00000039474 |
| Gene Name |
wolframin ER transmembrane glycoprotein |
| Synonyms |
wolframin, Wolfram syndrome 1 homolog (human) |
| MMRRC Submission |
041627-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.506)
|
| Stock # |
R4093 (G1)
|
| Quality Score |
212 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
37123448-37146326 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37124809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 694
(H694R)
|
| 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: H694R
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000048053
Gene: ENSMUSG00000039474
AA Change: H694R
| 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 |
possibly damaging
Transcript: ENSMUST00000166339
AA Change: H618R
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132404
Gene: ENSMUSG00000039474
AA Change: H618R
| 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 |
|
| Meta Mutation Damage Score |
0.6009 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
92% (69/75) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
A |
G |
5: 4,093,996 (GRCm39) |
M2173V |
probably damaging |
Het |
| Alas1 |
G |
T |
9: 106,119,000 (GRCm39) |
|
probably null |
Het |
| Angpt1 |
T |
C |
15: 42,386,941 (GRCm39) |
T138A |
probably damaging |
Het |
| Atp2c2 |
G |
A |
8: 120,476,610 (GRCm39) |
|
probably null |
Het |
| Cadm2 |
A |
G |
16: 66,581,675 (GRCm39) |
V210A |
possibly damaging |
Het |
| Cfap70 |
A |
T |
14: 20,459,181 (GRCm39) |
D671E |
probably damaging |
Het |
| Chd2 |
C |
T |
7: 73,150,764 (GRCm39) |
E322K |
possibly damaging |
Het |
| Chrnd |
C |
T |
1: 87,118,729 (GRCm39) |
Q29* |
probably null |
Het |
| Cip2a |
T |
C |
16: 48,821,339 (GRCm39) |
|
probably benign |
Het |
| Cym |
A |
G |
3: 107,121,582 (GRCm39) |
S237P |
probably benign |
Het |
| D030068K23Rik |
A |
G |
8: 109,978,091 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdma2 |
T |
A |
11: 98,541,677 (GRCm39) |
S135T |
probably benign |
Het |
| Hc |
A |
T |
2: 34,873,819 (GRCm39) |
Y158* |
probably null |
Het |
| Hoxb3 |
C |
A |
11: 96,236,926 (GRCm39) |
H335N |
probably damaging |
Het |
| Htr2a |
G |
A |
14: 74,943,789 (GRCm39) |
M456I |
probably benign |
Het |
| Ighv1-19 |
G |
A |
12: 114,672,350 (GRCm39) |
T90I |
probably damaging |
Het |
| Kansl3 |
C |
A |
1: 36,384,035 (GRCm39) |
S729I |
probably damaging |
Het |
| Kcnab1 |
T |
C |
3: 65,207,035 (GRCm39) |
I137T |
possibly damaging |
Het |
| Kcnt1 |
A |
T |
2: 25,767,927 (GRCm39) |
E12V |
probably damaging |
Het |
| Klk15 |
A |
T |
7: 43,588,204 (GRCm39) |
S171C |
possibly damaging |
Het |
| Lcn2 |
A |
T |
2: 32,277,728 (GRCm39) |
M1K |
probably null |
Het |
| Lrig1 |
T |
C |
6: 94,590,559 (GRCm39) |
D487G |
probably benign |
Het |
| Lrp8 |
T |
A |
4: 107,700,468 (GRCm39) |
C135* |
probably null |
Het |
| Lrrc31 |
C |
A |
3: 30,749,671 (GRCm39) |
S54I |
probably damaging |
Het |
| Ltbp4 |
A |
G |
7: 27,024,641 (GRCm39) |
V663A |
possibly damaging |
Het |
| Med27 |
G |
A |
2: 29,267,920 (GRCm39) |
|
probably benign |
Het |
| Mical1 |
T |
C |
10: 41,362,933 (GRCm39) |
|
probably benign |
Het |
| Myt1 |
A |
T |
2: 181,453,191 (GRCm39) |
M799L |
probably damaging |
Het |
| Nlrc4 |
T |
C |
17: 74,752,953 (GRCm39) |
M477V |
probably benign |
Het |
| Npy4r |
T |
C |
14: 33,869,098 (GRCm39) |
I63M |
probably benign |
Het |
| Or2t43 |
A |
T |
11: 58,457,655 (GRCm39) |
I172N |
probably damaging |
Het |
| Or52e15 |
C |
T |
7: 104,645,842 (GRCm39) |
G90S |
probably benign |
Het |
| Or8b1b |
T |
A |
9: 38,375,379 (GRCm39) |
L14Q |
probably null |
Het |
| Or8s10 |
T |
C |
15: 98,335,563 (GRCm39) |
L71P |
probably damaging |
Het |
| Piezo1 |
A |
C |
8: 123,227,899 (GRCm39) |
|
probably null |
Het |
| Ppp1r12c |
T |
C |
7: 4,486,366 (GRCm39) |
E601G |
probably damaging |
Het |
| Proser1 |
T |
C |
3: 53,387,133 (GRCm39) |
|
probably null |
Het |
| Psme2 |
A |
T |
14: 55,825,734 (GRCm39) |
N143K |
probably benign |
Het |
| Pygo2 |
C |
A |
3: 89,340,571 (GRCm39) |
P323Q |
probably damaging |
Het |
| Rab11b |
T |
C |
17: 33,968,763 (GRCm39) |
T77A |
possibly damaging |
Het |
| Recql5 |
A |
G |
11: 115,795,714 (GRCm39) |
S190P |
probably benign |
Het |
| Serpina12 |
A |
G |
12: 104,004,183 (GRCm39) |
F150L |
probably damaging |
Het |
| Sfswap |
A |
G |
5: 129,637,805 (GRCm39) |
S821G |
possibly damaging |
Het |
| Slc22a2 |
C |
T |
17: 12,831,281 (GRCm39) |
T357M |
probably damaging |
Het |
| Spag6l |
A |
C |
16: 16,646,888 (GRCm39) |
N39K |
probably benign |
Het |
| Srl |
A |
G |
16: 4,315,316 (GRCm39) |
S109P |
possibly damaging |
Het |
| Tagap |
A |
T |
17: 8,148,255 (GRCm39) |
H152L |
probably damaging |
Het |
| Tbx3 |
T |
A |
5: 119,818,813 (GRCm39) |
S463T |
probably benign |
Het |
| Tcaf2 |
A |
G |
6: 42,619,772 (GRCm39) |
L85P |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,544,979 (GRCm39) |
S2332C |
probably damaging |
Het |
| Trim60 |
A |
T |
8: 65,454,030 (GRCm39) |
M73K |
probably benign |
Het |
| Trpc1 |
T |
C |
9: 95,588,918 (GRCm39) |
T769A |
probably benign |
Het |
| Tubgcp4 |
T |
A |
2: 121,025,958 (GRCm39) |
L601Q |
probably benign |
Het |
| Unc5d |
T |
C |
8: 29,334,865 (GRCm39) |
Y154C |
possibly damaging |
Het |
| Vmn1r185 |
A |
T |
7: 26,311,208 (GRCm39) |
V99E |
probably damaging |
Het |
| Vmn1r57 |
G |
T |
7: 5,223,856 (GRCm39) |
S127I |
possibly damaging |
Het |
| Vmn1r62 |
T |
A |
7: 5,678,943 (GRCm39) |
M208K |
probably damaging |
Het |
| Vmn2r110 |
T |
C |
17: 20,803,642 (GRCm39) |
D311G |
possibly damaging |
Het |
| Vmn2r48 |
C |
A |
7: 9,676,185 (GRCm39) |
S432I |
probably benign |
Het |
| Vmn2r48 |
T |
A |
7: 9,676,186 (GRCm39) |
S432C |
probably damaging |
Het |
| Vmn2r71 |
T |
C |
7: 85,270,442 (GRCm39) |
V536A |
probably benign |
Het |
| Vstm2a |
A |
G |
11: 16,209,884 (GRCm39) |
T37A |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,348,940 (GRCm39) |
S2440P |
possibly damaging |
Het |
| Zfp61 |
A |
G |
7: 23,990,700 (GRCm39) |
|
probably null |
Het |
| Zfp64 |
T |
C |
2: 168,767,855 (GRCm39) |
T586A |
probably benign |
Het |
| Zfp943 |
T |
A |
17: 22,211,963 (GRCm39) |
C350S |
probably damaging |
Het |
|
| Other mutations in Wfs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01023:Wfs1
|
APN |
5 |
37,125,261 (GRCm39) |
nonsense |
probably null |
|
|
IGL01391:Wfs1
|
APN |
5 |
37,128,907 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01788:Wfs1
|
APN |
5 |
37,125,980 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02169:Wfs1
|
APN |
5 |
37,125,823 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02814:Wfs1
|
APN |
5 |
37,125,013 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03294:Wfs1
|
APN |
5 |
37,132,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03299:Wfs1
|
APN |
5 |
37,125,731 (GRCm39) |
nonsense |
probably null |
|
|
2107:Wfs1
|
UTSW |
5 |
37,124,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0077:Wfs1
|
UTSW |
5 |
37,130,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0180:Wfs1
|
UTSW |
5 |
37,124,372 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0402:Wfs1
|
UTSW |
5 |
37,134,324 (GRCm39) |
unclassified |
probably benign |
|
|
R0458:Wfs1
|
UTSW |
5 |
37,126,013 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0533:Wfs1
|
UTSW |
5 |
37,131,066 (GRCm39) |
splice site |
probably benign |
|
|
R0890:Wfs1
|
UTSW |
5 |
37,132,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0948:Wfs1
|
UTSW |
5 |
37,124,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1413:Wfs1
|
UTSW |
5 |
37,139,422 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1759:Wfs1
|
UTSW |
5 |
37,124,359 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2009:Wfs1
|
UTSW |
5 |
37,125,653 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2137:Wfs1
|
UTSW |
5 |
37,124,845 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2157:Wfs1
|
UTSW |
5 |
37,125,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2216:Wfs1
|
UTSW |
5 |
37,124,564 (GRCm39) |
nonsense |
probably null |
|
|
R3779:Wfs1
|
UTSW |
5 |
37,125,968 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3850:Wfs1
|
UTSW |
5 |
37,125,968 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3853:Wfs1
|
UTSW |
5 |
37,125,968 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3918:Wfs1
|
UTSW |
5 |
37,125,968 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5056:Wfs1
|
UTSW |
5 |
37,132,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5849:Wfs1
|
UTSW |
5 |
37,130,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5997:Wfs1
|
UTSW |
5 |
37,125,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6666:Wfs1
|
UTSW |
5 |
37,124,963 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7024:Wfs1
|
UTSW |
5 |
37,124,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7157:Wfs1
|
UTSW |
5 |
37,124,516 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7264:Wfs1
|
UTSW |
5 |
37,125,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7269:Wfs1
|
UTSW |
5 |
37,125,134 (GRCm39) |
nonsense |
probably null |
|
|
R7365:Wfs1
|
UTSW |
5 |
37,125,076 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7657:Wfs1
|
UTSW |
5 |
37,125,578 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8422:Wfs1
|
UTSW |
5 |
37,131,219 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8427:Wfs1
|
UTSW |
5 |
37,125,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8446:Wfs1
|
UTSW |
5 |
37,128,953 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8949:Wfs1
|
UTSW |
5 |
37,124,287 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9673:Wfs1
|
UTSW |
5 |
37,125,113 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGACGTGTTACCAGAGCTAC -3'
(R):5'- AGGCCAACTTCTCAGTGATGG -3'
Sequencing Primer
(F):5'- CGTGTTACCAGAGCTACAAGATG -3'
(R):5'- AGAGCTCCATGGTGAAGCTCATTC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation