Incidental Mutation 'IGL01071:Wdr1'
ID |
51043 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Wdr1
|
Ensembl Gene |
ENSMUSG00000005103 |
Gene Name |
WD repeat domain 1 |
Synonyms |
rede, D5Wsu185e, Aip1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01071
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
38684149-38720265 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 38687410 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 207
(K207R)
|
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: K480R
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000005234 Gene: ENSMUSG00000005103 AA Change: K480R
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: K207R
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000143937 Gene: ENSMUSG00000005103 AA Change: K207R
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930544G11Rik |
A |
C |
6: 65,930,137 (GRCm39) |
D124A |
probably damaging |
Het |
Arhgef17 |
C |
A |
7: 100,534,907 (GRCm39) |
V1137L |
probably damaging |
Het |
Birc6 |
A |
G |
17: 74,873,127 (GRCm39) |
D462G |
possibly damaging |
Het |
Birc6 |
A |
T |
17: 74,938,696 (GRCm39) |
N2701Y |
probably damaging |
Het |
Cadps |
C |
T |
14: 12,509,091 (GRCm38) |
|
probably null |
Het |
Camk2a |
T |
C |
18: 61,113,228 (GRCm39) |
|
probably null |
Het |
Capn10 |
T |
A |
1: 92,872,797 (GRCm39) |
W508R |
probably damaging |
Het |
Cntn3 |
A |
T |
6: 102,397,212 (GRCm39) |
|
probably null |
Het |
Crisp4 |
A |
G |
1: 18,207,231 (GRCm39) |
V19A |
probably benign |
Het |
Depdc1b |
A |
T |
13: 108,493,975 (GRCm39) |
Y121F |
probably benign |
Het |
Dsg1b |
T |
A |
18: 20,542,272 (GRCm39) |
S926R |
probably damaging |
Het |
Eml6 |
A |
G |
11: 29,800,816 (GRCm39) |
|
probably null |
Het |
Gm26938 |
A |
C |
5: 139,794,228 (GRCm39) |
V117G |
possibly damaging |
Het |
Keg1 |
T |
A |
19: 12,696,364 (GRCm39) |
Y183N |
probably damaging |
Het |
Mpi |
A |
T |
9: 57,457,875 (GRCm39) |
I109N |
probably damaging |
Het |
Or12j3 |
C |
T |
7: 139,953,098 (GRCm39) |
A142T |
probably benign |
Het |
Or13a20 |
C |
T |
7: 140,232,827 (GRCm39) |
H312Y |
possibly damaging |
Het |
Or14a259 |
T |
C |
7: 86,012,768 (GRCm39) |
K259R |
possibly damaging |
Het |
Or4c112 |
A |
G |
2: 88,853,519 (GRCm39) |
V276A |
probably benign |
Het |
Pcdhb20 |
A |
G |
18: 37,637,738 (GRCm39) |
E88G |
possibly damaging |
Het |
Pde6b |
G |
A |
5: 108,567,581 (GRCm39) |
W290* |
probably null |
Het |
Phf20 |
T |
A |
2: 156,136,008 (GRCm39) |
|
probably null |
Het |
Pkd1l1 |
A |
T |
11: 8,798,921 (GRCm39) |
H1830Q |
probably benign |
Het |
Proc |
T |
C |
18: 32,256,770 (GRCm39) |
D299G |
probably damaging |
Het |
Psmd14 |
A |
G |
2: 61,630,407 (GRCm39) |
T306A |
probably benign |
Het |
Rab32 |
G |
A |
10: 10,433,591 (GRCm39) |
A81V |
probably damaging |
Het |
Samd14 |
G |
A |
11: 94,912,294 (GRCm39) |
|
probably benign |
Het |
Sh3rf1 |
T |
A |
8: 61,678,993 (GRCm39) |
C12S |
probably damaging |
Het |
Sipa1l3 |
C |
T |
7: 29,023,645 (GRCm39) |
V663M |
possibly damaging |
Het |
Slc2a5 |
A |
G |
4: 150,205,190 (GRCm39) |
|
probably benign |
Het |
Tasor |
T |
A |
14: 27,164,579 (GRCm39) |
|
probably null |
Het |
Tbkbp1 |
T |
C |
11: 97,040,388 (GRCm39) |
I9V |
probably damaging |
Het |
Trip10 |
C |
A |
17: 57,561,332 (GRCm39) |
R196S |
possibly damaging |
Het |
Vav1 |
T |
C |
17: 57,606,176 (GRCm39) |
Y267H |
probably benign |
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 |
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 |
R6524:Wdr1
|
UTSW |
5 |
38,687,406 (GRCm39) |
missense |
probably benign |
0.07 |
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 |
|
Posted On |
2013-06-21 |