Incidental Mutation 'R8422:Wfs1'
| ID |
653248 |
| 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 |
067817-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.506)
|
| Stock # |
R8422 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
37123448-37146326 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37131219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 165
(K165E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048053
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043964]
[ENSMUST00000166339]
|
| AlphaFold |
P56695 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043964
AA Change: K165E
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000048053
Gene: ENSMUSG00000039474
AA Change: K165E
| 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: K165E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000132404
Gene: ENSMUSG00000039474
AA Change: K165E
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000125779
Gene: ENSMUSG00000039474
AA Change: K83E
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SEL1
|
20 |
58 |
4e-9 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
G |
T |
14: 32,384,254 (GRCm39) |
S570R |
possibly damaging |
Het |
| 4921517D22Rik |
T |
C |
13: 59,839,443 (GRCm39) |
M1V |
probably null |
Het |
| 4921524J17Rik |
T |
G |
8: 86,138,918 (GRCm39) |
K57T |
possibly damaging |
Het |
| 4930596D02Rik |
G |
T |
14: 35,532,009 (GRCm39) |
Q189K |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,517,757 (GRCm39) |
T296A |
probably benign |
Het |
| Aqp7 |
T |
A |
4: 41,035,622 (GRCm39) |
M78L |
probably benign |
Het |
| C1qtnf5 |
C |
A |
9: 44,019,961 (GRCm39) |
A195E |
possibly damaging |
Het |
| Calhm2 |
T |
C |
19: 47,121,579 (GRCm39) |
I197V |
probably benign |
Het |
| Ccdc186 |
G |
A |
19: 56,801,617 (GRCm39) |
L167F |
probably benign |
Het |
| Ccr3 |
T |
C |
9: 123,828,799 (GRCm39) |
Y45H |
probably damaging |
Het |
| Cct3 |
G |
C |
3: 88,208,126 (GRCm39) |
R38P |
probably damaging |
Het |
| Clstn2 |
T |
C |
9: 97,340,239 (GRCm39) |
D711G |
probably benign |
Het |
| Dab2ip |
T |
A |
2: 35,597,767 (GRCm39) |
I157N |
probably damaging |
Het |
| Dchs2 |
T |
C |
3: 83,232,570 (GRCm39) |
V2185A |
probably benign |
Het |
| Dis3l2 |
A |
G |
1: 86,782,099 (GRCm39) |
T219A |
probably benign |
Het |
| F2rl3 |
G |
T |
8: 73,489,813 (GRCm39) |
V347L |
probably benign |
Het |
| Fastkd1 |
A |
G |
2: 69,532,778 (GRCm39) |
S530P |
probably damaging |
Het |
| Fgfr3 |
T |
A |
5: 33,892,249 (GRCm39) |
Y689* |
probably null |
Het |
| Gm10521 |
A |
G |
1: 171,724,026 (GRCm39) |
I112M |
unknown |
Het |
| Gm9736 |
C |
A |
10: 77,586,714 (GRCm39) |
V159F |
unknown |
Het |
| Hba-x |
A |
T |
11: 32,227,736 (GRCm39) |
H88L |
probably benign |
Het |
| Il12rb2 |
A |
T |
6: 67,337,800 (GRCm39) |
V27E |
probably benign |
Het |
| Imp4 |
G |
T |
1: 34,482,997 (GRCm39) |
G196V |
probably damaging |
Het |
| Itga11 |
A |
C |
9: 62,674,960 (GRCm39) |
I831L |
probably benign |
Het |
| Macf1 |
C |
T |
4: 123,303,279 (GRCm39) |
V408I |
possibly damaging |
Het |
| Nedd4 |
T |
A |
9: 72,649,964 (GRCm39) |
D771E |
probably damaging |
Het |
| Noc3l |
T |
C |
19: 38,795,547 (GRCm39) |
Y413C |
probably benign |
Het |
| Npas3 |
C |
A |
12: 54,115,292 (GRCm39) |
T738K |
probably benign |
Het |
| Ntrk2 |
A |
T |
13: 59,133,715 (GRCm39) |
D498V |
probably damaging |
Het |
| Nyap1 |
T |
C |
5: 137,734,083 (GRCm39) |
T317A |
probably benign |
Het |
| Or10g7 |
T |
C |
9: 39,905,850 (GRCm39) |
L248P |
probably damaging |
Het |
| Or14a256 |
T |
A |
7: 86,265,466 (GRCm39) |
H129L |
probably benign |
Het |
| Or4c107 |
T |
C |
2: 88,789,341 (GRCm39) |
M177T |
probably benign |
Het |
| Or5d47 |
T |
A |
2: 87,804,143 (GRCm39) |
I289L |
probably benign |
Het |
| Pcdhb20 |
A |
T |
18: 37,637,849 (GRCm39) |
D125V |
probably damaging |
Het |
| Phc3 |
G |
A |
3: 30,984,039 (GRCm39) |
Q692* |
probably null |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Ppp1r12a |
T |
A |
10: 108,077,042 (GRCm39) |
H339Q |
probably benign |
Het |
| Ppp1r3a |
G |
A |
6: 14,718,434 (GRCm39) |
Q827* |
probably null |
Het |
| Ptpra |
T |
A |
2: 130,374,091 (GRCm39) |
I265N |
possibly damaging |
Het |
| Rabggta |
G |
T |
14: 55,955,915 (GRCm39) |
H447Q |
probably benign |
Het |
| Ralgps1 |
T |
C |
2: 33,062,442 (GRCm39) |
D277G |
possibly damaging |
Het |
| Riok3 |
A |
T |
18: 12,269,869 (GRCm39) |
E100V |
probably null |
Het |
| Rtcb |
C |
T |
10: 85,779,168 (GRCm39) |
V362M |
probably benign |
Het |
| Scd2 |
G |
T |
19: 44,289,743 (GRCm39) |
C246F |
probably benign |
Het |
| Slco6c1 |
T |
C |
1: 97,053,508 (GRCm39) |
E131G |
probably damaging |
Het |
| Tanc2 |
A |
G |
11: 105,726,014 (GRCm39) |
M393V |
probably benign |
Het |
| Tas2r136 |
A |
T |
6: 132,754,290 (GRCm39) |
I279N |
probably damaging |
Het |
| Tbx3 |
G |
T |
5: 119,818,581 (GRCm39) |
K405N |
possibly damaging |
Het |
| Thumpd2 |
A |
T |
17: 81,334,373 (GRCm39) |
V405D |
probably damaging |
Het |
| Tlr12 |
A |
G |
4: 128,510,427 (GRCm39) |
S608P |
probably damaging |
Het |
| Zfp810 |
C |
A |
9: 22,194,518 (GRCm39) |
E57* |
probably null |
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 |
|
R4093:Wfs1
|
UTSW |
5 |
37,124,809 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
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'- TGGAATTTACAGTCTCGCCAAC -3'
(R):5'- TCTAAGGGCAGGTACCTACTC -3'
Sequencing Primer
(F):5'- GAATTTACAGTCTCGCCAACATGCC -3'
(R):5'- ACTCTACCCTGAGTCAACGGTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation