Incidental Mutation 'R6524:Wdr1'
| ID |
521587 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr1
|
| Ensembl Gene |
ENSMUSG00000005103 |
| Gene Name |
WD repeat domain 1 |
| Synonyms |
rede, D5Wsu185e, Aip1 |
| MMRRC Submission |
044650-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6524 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
38684149-38720265 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 38687406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 208
(D208E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143937
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005234]
[ENSMUST00000201260]
|
| AlphaFold |
O88342 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005234
AA Change: D481E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000005234
Gene: ENSMUSG00000005103
AA Change: D481E
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
47 |
86 |
1.7e-2 |
SMART |
|
WD40
|
91 |
134 |
5.52e0 |
SMART |
|
WD40
|
135 |
175 |
3.69e-3 |
SMART |
|
WD40
|
178 |
217 |
4.4e-10 |
SMART |
|
WD40
|
220 |
262 |
1.74e-8 |
SMART |
|
WD40
|
309 |
350 |
7.05e-9 |
SMART |
|
WD40
|
354 |
392 |
6.9e-1 |
SMART |
|
WD40
|
434 |
473 |
1.36e-1 |
SMART |
|
WD40
|
478 |
517 |
7.8e-2 |
SMART |
|
WD40
|
521 |
560 |
1.83e-7 |
SMART |
|
WD40
|
564 |
603 |
3.71e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200909
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201059
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201260
AA Change: D208E
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000143937
Gene: ENSMUSG00000005103
AA Change: D208E
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
36 |
77 |
4.6e-11 |
SMART |
|
WD40
|
81 |
119 |
4.5e-3 |
SMART |
|
WD40
|
161 |
200 |
8.9e-4 |
SMART |
|
WD40
|
205 |
244 |
4.9e-4 |
SMART |
|
WD40
|
248 |
287 |
1.2e-9 |
SMART |
|
WD40
|
291 |
330 |
2.4e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201538
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202496
|
| Meta Mutation Damage Score |
0.0714 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing 9 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, mostly including a trp-asp at the C-terminal end. WD domains are involved in protein-protein interactions. The encoded protein may help induce the disassembly of actin filaments. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Severe loss of function at this locus causes embryonic lethality. Mice homozygous for a hypomorphic ENU-induced allele exhibit thrombocytopenia due to impaired megakaryocyte maturation and platelet shedding, and develop autoinflammatory disease associated with defects in neutrophil function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
G |
8: 106,435,641 (GRCm39) |
R100G |
possibly damaging |
Het |
| Acin1 |
G |
T |
14: 54,882,740 (GRCm39) |
D237E |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,621,308 (GRCm39) |
R198Q |
possibly damaging |
Het |
| C3 |
A |
T |
17: 57,524,264 (GRCm39) |
|
probably null |
Het |
| Dnaaf2 |
A |
T |
12: 69,237,159 (GRCm39) |
C650S |
probably benign |
Het |
| Dsg2 |
T |
G |
18: 20,716,093 (GRCm39) |
F315V |
probably damaging |
Het |
| Dyrk1a |
C |
T |
16: 94,485,979 (GRCm39) |
S404L |
probably benign |
Het |
| Eefsec |
T |
C |
6: 88,274,902 (GRCm39) |
|
probably null |
Het |
| Esco1 |
T |
G |
18: 10,582,188 (GRCm39) |
|
probably null |
Het |
| Fam83a |
T |
C |
15: 57,858,736 (GRCm39) |
|
probably null |
Het |
| Fat3 |
A |
T |
9: 15,903,552 (GRCm39) |
V2981E |
probably damaging |
Het |
| H1f11-ps |
G |
A |
19: 47,158,999 (GRCm39) |
T192M |
unknown |
Het |
| Heatr5b |
A |
G |
17: 79,121,535 (GRCm39) |
L730P |
possibly damaging |
Het |
| Hgsnat |
A |
G |
8: 26,435,260 (GRCm39) |
S625P |
probably damaging |
Het |
| Itpr1 |
C |
T |
6: 108,340,644 (GRCm39) |
T84I |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,246,709 (GRCm39) |
N1070S |
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,708,883 (GRCm39) |
F276L |
probably damaging |
Het |
| Krt84 |
A |
G |
15: 101,441,187 (GRCm39) |
S2P |
unknown |
Het |
| Lbhd2 |
G |
A |
12: 111,376,724 (GRCm39) |
R57H |
probably damaging |
Het |
| Lcmt2 |
T |
C |
2: 120,969,412 (GRCm39) |
E337G |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 40,741,816 (GRCm39) |
E3037G |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,266,983 (GRCm39) |
E4308G |
possibly damaging |
Het |
| Med13 |
A |
G |
11: 86,192,293 (GRCm39) |
I824T |
probably damaging |
Het |
| Meiob |
G |
A |
17: 25,051,491 (GRCm39) |
V291I |
probably benign |
Het |
| Mtcl1 |
A |
T |
17: 66,655,280 (GRCm39) |
D1343E |
probably benign |
Het |
| Mybl2 |
C |
A |
2: 162,916,450 (GRCm39) |
P367Q |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,555,891 (GRCm39) |
N1680S |
probably damaging |
Het |
| Nif3l1 |
T |
C |
1: 58,496,999 (GRCm39) |
V308A |
probably benign |
Het |
| Or5h23 |
C |
T |
16: 58,906,640 (GRCm39) |
V69M |
possibly damaging |
Het |
| Pclo |
G |
A |
5: 14,768,883 (GRCm39) |
R4366H |
unknown |
Het |
| Phax |
T |
A |
18: 56,720,074 (GRCm39) |
D338E |
probably damaging |
Het |
| Pnpla6 |
T |
A |
8: 3,584,519 (GRCm39) |
|
probably null |
Het |
| Rint1 |
A |
T |
5: 24,020,737 (GRCm39) |
M529L |
probably benign |
Het |
| Scand1 |
C |
T |
2: 156,154,169 (GRCm39) |
|
probably benign |
Het |
| Six3 |
C |
T |
17: 85,929,398 (GRCm39) |
T244I |
probably damaging |
Het |
| Slc4a4 |
T |
C |
5: 89,380,623 (GRCm39) |
S1034P |
probably benign |
Het |
| Ssu72 |
T |
G |
4: 155,799,997 (GRCm39) |
N53K |
probably null |
Het |
| Timm44 |
T |
C |
8: 4,317,988 (GRCm39) |
D140G |
possibly damaging |
Het |
| Tspan8 |
T |
C |
10: 115,679,984 (GRCm39) |
F200L |
probably benign |
Het |
| Tyw5 |
A |
T |
1: 57,427,890 (GRCm39) |
V234D |
possibly damaging |
Het |
| Ubxn10 |
T |
A |
4: 138,448,194 (GRCm39) |
R161* |
probably null |
Het |
| Vmn2r23 |
T |
A |
6: 123,690,384 (GRCm39) |
L420Q |
probably damaging |
Het |
| Yif1a |
A |
G |
19: 5,142,204 (GRCm39) |
Y230C |
probably damaging |
Het |
|
| Other mutations in Wdr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00939:Wdr1
|
APN |
5 |
38,692,666 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01071:Wdr1
|
APN |
5 |
38,687,410 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01293:Wdr1
|
APN |
5 |
38,686,886 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01347:Wdr1
|
APN |
5 |
38,703,058 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01532:Wdr1
|
APN |
5 |
38,692,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02409:Wdr1
|
APN |
5 |
38,688,453 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02415:Wdr1
|
APN |
5 |
38,688,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02543:Wdr1
|
APN |
5 |
38,703,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02550:Wdr1
|
APN |
5 |
38,698,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03093:Wdr1
|
APN |
5 |
38,718,472 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03183:Wdr1
|
APN |
5 |
38,690,825 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0724:Wdr1
|
UTSW |
5 |
38,698,205 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1509:Wdr1
|
UTSW |
5 |
38,697,905 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1589:Wdr1
|
UTSW |
5 |
38,687,315 (GRCm39) |
missense |
probably benign |
0.43 |
|
R3039:Wdr1
|
UTSW |
5 |
38,687,428 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3767:Wdr1
|
UTSW |
5 |
38,697,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4833:Wdr1
|
UTSW |
5 |
38,704,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5405:Wdr1
|
UTSW |
5 |
38,692,543 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5475:Wdr1
|
UTSW |
5 |
38,686,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5476:Wdr1
|
UTSW |
5 |
38,686,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5619:Wdr1
|
UTSW |
5 |
38,686,879 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5852:Wdr1
|
UTSW |
5 |
38,694,518 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5876:Wdr1
|
UTSW |
5 |
38,687,366 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6170:Wdr1
|
UTSW |
5 |
38,687,014 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6367:Wdr1
|
UTSW |
5 |
38,703,189 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6643:Wdr1
|
UTSW |
5 |
38,697,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6838:Wdr1
|
UTSW |
5 |
38,687,374 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7305:Wdr1
|
UTSW |
5 |
38,697,435 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8364:Wdr1
|
UTSW |
5 |
38,685,192 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8380:Wdr1
|
UTSW |
5 |
38,697,864 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9151:Wdr1
|
UTSW |
5 |
38,687,468 (GRCm39) |
splice site |
probably benign |
|
|
R9300:Wdr1
|
UTSW |
5 |
38,685,255 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9347:Wdr1
|
UTSW |
5 |
38,697,355 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9679:Wdr1
|
UTSW |
5 |
38,685,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCCCAACAATGTCTGGC -3'
(R):5'- GAGAGGAGTCAGCCATTTCTTG -3'
Sequencing Primer
(F):5'- CCAACAATGTCTGGCTGGATTAC -3'
(R):5'- ATTTCTTGGCAGCCCAGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation