Incidental Mutation 'R6292:Washc5'
| ID |
508518 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Washc5
|
| Ensembl Gene |
ENSMUSG00000022350 |
| Gene Name |
WASH complex subunit 5 |
| Synonyms |
strumpellin, E430025E21Rik |
| MMRRC Submission |
044461-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R6292 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
59203846-59246016 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 59227783 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 393
(R393H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022976]
[ENSMUST00000227725]
|
| AlphaFold |
Q8C2E7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022976
AA Change: R393H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022976
Gene: ENSMUSG00000022350
AA Change: R393H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Strumpellin
|
23 |
1103 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227725
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest expression in skeletal muscle. The protein is named for Strumpell disease; a form of hereditary spastic paraplegia (HSP). Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal tracts. More than 30 loci (SPG1-33) have been implicated in hereditary spastic paraplegia diseases. [provided by RefSeq, Aug 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal coat color and melanocyte stem cells but enlarged, clustered WASH- and WAFL-positive vesicles. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
A |
5: 114,338,312 (GRCm39) |
V709E |
probably damaging |
Het |
| Ankrd33b |
C |
T |
15: 31,325,231 (GRCm39) |
|
probably null |
Het |
| Apaf1 |
T |
C |
10: 90,827,425 (GRCm39) |
T1202A |
possibly damaging |
Het |
| Apip |
G |
T |
2: 102,922,812 (GRCm39) |
C210F |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,659,550 (GRCm39) |
H170L |
probably benign |
Het |
| Clec16a |
T |
C |
16: 10,378,015 (GRCm39) |
|
probably null |
Het |
| Ep300 |
T |
A |
15: 81,500,935 (GRCm39) |
|
probably benign |
Het |
| Etl4 |
C |
T |
2: 20,748,384 (GRCm39) |
H39Y |
probably damaging |
Het |
| Gdap1l1 |
A |
T |
2: 163,293,427 (GRCm39) |
I218F |
probably damaging |
Het |
| Gm5141 |
A |
T |
13: 62,922,252 (GRCm39) |
C306S |
probably damaging |
Het |
| Gm9961 |
C |
T |
16: 11,748,336 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr27 |
C |
T |
6: 99,670,619 (GRCm39) |
S327L |
possibly damaging |
Het |
| Hectd3 |
A |
C |
4: 116,856,005 (GRCm39) |
T435P |
probably damaging |
Het |
| Hs3st1 |
T |
A |
5: 39,772,133 (GRCm39) |
Q170L |
possibly damaging |
Het |
| Hykk |
T |
C |
9: 54,828,110 (GRCm39) |
|
probably null |
Het |
| Lilra5 |
T |
C |
7: 4,241,338 (GRCm39) |
S92P |
possibly damaging |
Het |
| Lrig1 |
A |
T |
6: 94,593,426 (GRCm39) |
N418K |
probably damaging |
Het |
| Miga1 |
A |
G |
3: 152,023,356 (GRCm39) |
F232L |
probably benign |
Het |
| Mkrn2 |
T |
A |
6: 115,590,295 (GRCm39) |
M217K |
probably damaging |
Het |
| Myh7b |
A |
T |
2: 155,474,316 (GRCm39) |
Q1677L |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,579,867 (GRCm39) |
E645G |
probably damaging |
Het |
| Nckap5 |
T |
C |
1: 125,842,752 (GRCm39) |
K1752E |
probably damaging |
Het |
| Nek1 |
A |
G |
8: 61,507,770 (GRCm39) |
|
probably null |
Het |
| Ntng1 |
T |
C |
3: 110,051,202 (GRCm39) |
|
probably benign |
Het |
| Nup133 |
A |
G |
8: 124,644,176 (GRCm39) |
V730A |
probably benign |
Het |
| Or2t44 |
T |
A |
11: 58,677,063 (GRCm39) |
M1K |
probably null |
Het |
| Or51v14 |
T |
A |
7: 103,261,386 (GRCm39) |
H58L |
probably damaging |
Het |
| Paqr6 |
C |
T |
3: 88,275,205 (GRCm39) |
P213S |
probably damaging |
Het |
| Pign |
A |
T |
1: 105,512,802 (GRCm39) |
V627D |
possibly damaging |
Het |
| Rasal1 |
T |
A |
5: 120,797,685 (GRCm39) |
V139E |
probably damaging |
Het |
| Scgb1b24 |
G |
T |
7: 33,443,577 (GRCm39) |
A79S |
possibly damaging |
Het |
| Slc25a28 |
T |
C |
19: 43,653,031 (GRCm39) |
D210G |
probably benign |
Het |
| Slc38a3 |
A |
T |
9: 107,532,353 (GRCm39) |
I393N |
possibly damaging |
Het |
| Slc41a2 |
T |
C |
10: 83,090,790 (GRCm39) |
N465D |
probably damaging |
Het |
| Slc5a5 |
G |
A |
8: 71,343,822 (GRCm39) |
T160I |
probably damaging |
Het |
| Smarca2 |
C |
T |
19: 26,608,292 (GRCm39) |
A117V |
probably damaging |
Het |
| Sorcs2 |
C |
T |
5: 36,219,931 (GRCm39) |
R371H |
probably damaging |
Het |
| Taf4 |
A |
G |
2: 179,565,780 (GRCm39) |
S872P |
probably damaging |
Het |
| Tdrd3 |
G |
T |
14: 87,743,690 (GRCm39) |
C540F |
probably benign |
Het |
| Thumpd1 |
A |
T |
7: 119,319,897 (GRCm39) |
L23Q |
probably benign |
Het |
| Top1 |
A |
T |
2: 160,540,061 (GRCm39) |
Y213F |
probably benign |
Het |
| Txndc5 |
T |
C |
13: 38,712,160 (GRCm39) |
|
probably null |
Het |
| Unc79 |
C |
A |
12: 103,108,991 (GRCm39) |
A2005D |
possibly damaging |
Het |
| Upb1 |
T |
C |
10: 75,274,005 (GRCm39) |
L344P |
probably damaging |
Het |
| Vmn1r72 |
T |
A |
7: 11,403,579 (GRCm39) |
S290C |
probably benign |
Het |
| Vmn2r103 |
A |
G |
17: 20,013,866 (GRCm39) |
I219M |
possibly damaging |
Het |
| Wapl |
A |
G |
14: 34,451,152 (GRCm39) |
T729A |
probably damaging |
Het |
|
| Other mutations in Washc5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00861:Washc5
|
APN |
15 |
59,209,125 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01096:Washc5
|
APN |
15 |
59,222,060 (GRCm39) |
splice site |
probably benign |
|
|
IGL01305:Washc5
|
APN |
15 |
59,227,688 (GRCm39) |
nonsense |
probably null |
|
|
IGL01707:Washc5
|
APN |
15 |
59,213,864 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01921:Washc5
|
APN |
15 |
59,213,958 (GRCm39) |
splice site |
probably null |
|
|
IGL02056:Washc5
|
APN |
15 |
59,222,185 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02145:Washc5
|
APN |
15 |
59,241,060 (GRCm39) |
missense |
probably benign |
|
|
IGL02430:Washc5
|
APN |
15 |
59,238,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02450:Washc5
|
APN |
15 |
59,204,166 (GRCm39) |
nonsense |
probably null |
|
|
IGL03238:Washc5
|
APN |
15 |
59,218,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03351:Washc5
|
APN |
15 |
59,235,199 (GRCm39) |
splice site |
probably benign |
|
|
ANU22:Washc5
|
UTSW |
15 |
59,227,688 (GRCm39) |
nonsense |
probably null |
|
|
R0004:Washc5
|
UTSW |
15 |
59,239,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0004:Washc5
|
UTSW |
15 |
59,239,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0100:Washc5
|
UTSW |
15 |
59,215,947 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0100:Washc5
|
UTSW |
15 |
59,215,947 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0179:Washc5
|
UTSW |
15 |
59,224,379 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0265:Washc5
|
UTSW |
15 |
59,210,809 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0315:Washc5
|
UTSW |
15 |
59,213,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0545:Washc5
|
UTSW |
15 |
59,213,942 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0611:Washc5
|
UTSW |
15 |
59,213,007 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0636:Washc5
|
UTSW |
15 |
59,231,258 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1006:Washc5
|
UTSW |
15 |
59,241,036 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1006:Washc5
|
UTSW |
15 |
59,241,035 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1237:Washc5
|
UTSW |
15 |
59,210,757 (GRCm39) |
splice site |
probably benign |
|
|
R1835:Washc5
|
UTSW |
15 |
59,231,189 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1888:Washc5
|
UTSW |
15 |
59,231,174 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1888:Washc5
|
UTSW |
15 |
59,231,174 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2005:Washc5
|
UTSW |
15 |
59,213,004 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2006:Washc5
|
UTSW |
15 |
59,213,004 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2060:Washc5
|
UTSW |
15 |
59,222,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2134:Washc5
|
UTSW |
15 |
59,241,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2139:Washc5
|
UTSW |
15 |
59,221,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2177:Washc5
|
UTSW |
15 |
59,235,118 (GRCm39) |
nonsense |
probably null |
|
|
R2975:Washc5
|
UTSW |
15 |
59,217,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4088:Washc5
|
UTSW |
15 |
59,211,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4824:Washc5
|
UTSW |
15 |
59,205,485 (GRCm39) |
nonsense |
probably null |
|
|
R4843:Washc5
|
UTSW |
15 |
59,222,220 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4991:Washc5
|
UTSW |
15 |
59,215,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4996:Washc5
|
UTSW |
15 |
59,205,484 (GRCm39) |
missense |
probably benign |
|
|
R5103:Washc5
|
UTSW |
15 |
59,222,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5312:Washc5
|
UTSW |
15 |
59,217,377 (GRCm39) |
splice site |
probably null |
|
|
R5591:Washc5
|
UTSW |
15 |
59,241,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6073:Washc5
|
UTSW |
15 |
59,207,019 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6123:Washc5
|
UTSW |
15 |
59,206,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6156:Washc5
|
UTSW |
15 |
59,217,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6297:Washc5
|
UTSW |
15 |
59,215,895 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6374:Washc5
|
UTSW |
15 |
59,209,044 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6659:Washc5
|
UTSW |
15 |
59,212,739 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6880:Washc5
|
UTSW |
15 |
59,222,021 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7146:Washc5
|
UTSW |
15 |
59,224,350 (GRCm39) |
nonsense |
probably null |
|
|
R7330:Washc5
|
UTSW |
15 |
59,205,516 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7430:Washc5
|
UTSW |
15 |
59,241,762 (GRCm39) |
nonsense |
probably null |
|
|
R7490:Washc5
|
UTSW |
15 |
59,209,053 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7532:Washc5
|
UTSW |
15 |
59,239,260 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7560:Washc5
|
UTSW |
15 |
59,238,041 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7803:Washc5
|
UTSW |
15 |
59,240,308 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8242:Washc5
|
UTSW |
15 |
59,215,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8841:Washc5
|
UTSW |
15 |
59,206,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9022:Washc5
|
UTSW |
15 |
59,233,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9022:Washc5
|
UTSW |
15 |
59,217,233 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9123:Washc5
|
UTSW |
15 |
59,209,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9125:Washc5
|
UTSW |
15 |
59,209,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9310:Washc5
|
UTSW |
15 |
59,218,067 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9423:Washc5
|
UTSW |
15 |
59,227,735 (GRCm39) |
missense |
probably benign |
|
|
R9556:Washc5
|
UTSW |
15 |
59,218,716 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9569:Washc5
|
UTSW |
15 |
59,215,980 (GRCm39) |
missense |
probably benign |
|
|
R9668:Washc5
|
UTSW |
15 |
59,218,062 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9691:Washc5
|
UTSW |
15 |
59,218,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9718:Washc5
|
UTSW |
15 |
59,217,192 (GRCm39) |
missense |
probably benign |
0.19 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATCTGTTGCTTGAGTCAGAGAC -3'
(R):5'- TCATTCTCCGTGCTGTGGATATATG -3'
Sequencing Primer
(F):5'- CTGTTGCTTGAGTCAGAGACATAAC -3'
(R):5'- GGATATATGGTATTTCCCAACCTGC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation