Incidental Mutation 'IGL02415:Wdr1'
| ID |
292406 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wdr1
|
| Ensembl Gene |
ENSMUSG00000005103 |
| Gene Name |
WD repeat domain 1 |
| Synonyms |
Aip1, rede, D5Wsu185e |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02415
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
38526813-38563221 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 38531110 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 161
(D161Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143937
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005234]
[ENSMUST00000201260]
|
| AlphaFold |
O88342 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005234
AA Change: D434Y
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000005234
Gene: ENSMUSG00000005103
AA Change: D434Y
| 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 damaging
Transcript: ENSMUST00000201260
AA Change: D161Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143937
Gene: ENSMUSG00000005103
AA Change: D161Y
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059G10Rik |
T |
C |
9: 122,947,991 (GRCm38) |
D124G |
probably benign |
Het |
| Adamts13 |
T |
A |
2: 26,989,283 (GRCm38) |
I616N |
possibly damaging |
Het |
| Adamts3 |
T |
C |
5: 89,706,647 (GRCm38) |
|
probably null |
Het |
| Amy1 |
T |
C |
3: 113,563,585 (GRCm38) |
I202V |
probably benign |
Het |
| Bdp1 |
G |
A |
13: 100,089,408 (GRCm38) |
T322I |
probably damaging |
Het |
| Cep295 |
A |
G |
9: 15,353,020 (GRCm38) |
L110S |
probably damaging |
Het |
| Cep72 |
T |
C |
13: 74,050,154 (GRCm38) |
D369G |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,348,913 (GRCm38) |
|
probably benign |
Het |
| Ckmt2 |
G |
A |
13: 91,863,340 (GRCm38) |
|
probably benign |
Het |
| Cyp2s1 |
T |
C |
7: 25,808,137 (GRCm38) |
T296A |
probably damaging |
Het |
| E2f5 |
T |
A |
3: 14,603,897 (GRCm38) |
V283E |
probably benign |
Het |
| F5 |
A |
G |
1: 164,191,929 (GRCm38) |
T658A |
probably damaging |
Het |
| Fam102b |
A |
G |
3: 108,980,292 (GRCm38) |
Y219H |
probably damaging |
Het |
| Gml |
A |
T |
15: 74,816,440 (GRCm38) |
Y59* |
probably null |
Het |
| Kmo |
A |
T |
1: 175,649,323 (GRCm38) |
|
probably benign |
Het |
| Krt25 |
A |
T |
11: 99,322,572 (GRCm38) |
I107N |
probably damaging |
Het |
| Llgl2 |
A |
G |
11: 115,853,285 (GRCm38) |
M773V |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,660,956 (GRCm38) |
C1741Y |
probably benign |
Het |
| Med12 |
T |
C |
X: 101,281,790 (GRCm38) |
V761A |
probably damaging |
Het |
| Mrpl19 |
T |
C |
6: 81,963,961 (GRCm38) |
T150A |
probably benign |
Het |
| Muc2 |
G |
T |
7: 141,751,872 (GRCm38) |
E646* |
probably null |
Het |
| Muc20 |
T |
A |
16: 32,794,681 (GRCm38) |
T109S |
unknown |
Het |
| Nr2f6 |
T |
C |
8: 71,374,512 (GRCm38) |
T382A |
probably benign |
Het |
| Nrap |
A |
G |
19: 56,382,309 (GRCm38) |
I172T |
probably damaging |
Het |
| Olfr1434 |
A |
G |
19: 12,283,498 (GRCm38) |
Y150C |
probably benign |
Het |
| Olfr911-ps1 |
T |
C |
9: 38,524,112 (GRCm38) |
C127R |
probably benign |
Het |
| P3h1 |
A |
T |
4: 119,247,955 (GRCm38) |
Q710L |
probably benign |
Het |
| Parvb |
A |
G |
15: 84,292,815 (GRCm38) |
H185R |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,522,759 (GRCm38) |
Y1710C |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,414,421 (GRCm38) |
I1970T |
probably damaging |
Het |
| Plxna2 |
C |
A |
1: 194,643,964 (GRCm38) |
R69S |
probably damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,456,929 (GRCm38) |
N284S |
possibly damaging |
Het |
| Reln |
T |
A |
5: 21,971,951 (GRCm38) |
S1906C |
possibly damaging |
Het |
| Rln1 |
T |
C |
19: 29,334,398 (GRCm38) |
R67G |
probably damaging |
Het |
| Shcbp1 |
C |
T |
8: 4,754,239 (GRCm38) |
V224I |
possibly damaging |
Het |
| Slc13a4 |
A |
G |
6: 35,283,237 (GRCm38) |
|
probably null |
Het |
| Stx6 |
A |
G |
1: 155,193,313 (GRCm38) |
E195G |
possibly damaging |
Het |
| Sult2b1 |
G |
T |
7: 45,742,085 (GRCm38) |
D90E |
possibly damaging |
Het |
| Taok1 |
A |
G |
11: 77,540,240 (GRCm38) |
|
probably benign |
Het |
| Tbx15 |
A |
T |
3: 99,352,510 (GRCm38) |
M566L |
probably benign |
Het |
| Tcaf1 |
C |
T |
6: 42,686,650 (GRCm38) |
A99T |
probably benign |
Het |
| Tcf20 |
T |
A |
15: 82,853,459 (GRCm38) |
M1264L |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,874,074 (GRCm38) |
V1571M |
probably damaging |
Het |
| Ttc39a |
A |
G |
4: 109,431,529 (GRCm38) |
|
probably benign |
Het |
| Ubr1 |
C |
A |
2: 120,970,603 (GRCm38) |
|
probably benign |
Het |
| Ulk1 |
T |
C |
5: 110,787,621 (GRCm38) |
D926G |
probably damaging |
Het |
| Vmn2r110 |
T |
C |
17: 20,583,771 (GRCm38) |
I181V |
probably benign |
Het |
| Vmn2r66 |
G |
A |
7: 85,006,812 (GRCm38) |
T332I |
probably damaging |
Het |
| Wnt7a |
T |
C |
6: 91,394,557 (GRCm38) |
Y141C |
probably damaging |
Het |
| Xrra1 |
G |
A |
7: 99,915,943 (GRCm38) |
E573K |
probably benign |
Het |
| Zfp334 |
G |
T |
2: 165,381,851 (GRCm38) |
Q91K |
possibly damaging |
Het |
|
| Other mutations in Wdr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00939:Wdr1
|
APN |
5 |
38,535,323 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01071:Wdr1
|
APN |
5 |
38,530,067 (GRCm38) |
missense |
probably benign |
0.14 |
|
IGL01293:Wdr1
|
APN |
5 |
38,529,543 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01347:Wdr1
|
APN |
5 |
38,545,715 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL01532:Wdr1
|
APN |
5 |
38,535,187 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02409:Wdr1
|
APN |
5 |
38,531,110 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02543:Wdr1
|
APN |
5 |
38,545,822 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02550:Wdr1
|
APN |
5 |
38,540,863 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03093:Wdr1
|
APN |
5 |
38,561,129 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03183:Wdr1
|
APN |
5 |
38,533,482 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0724:Wdr1
|
UTSW |
5 |
38,540,862 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R1509:Wdr1
|
UTSW |
5 |
38,540,562 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1589:Wdr1
|
UTSW |
5 |
38,529,972 (GRCm38) |
missense |
probably benign |
0.43 |
|
R3039:Wdr1
|
UTSW |
5 |
38,530,085 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R3767:Wdr1
|
UTSW |
5 |
38,540,539 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4833:Wdr1
|
UTSW |
5 |
38,547,029 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5405:Wdr1
|
UTSW |
5 |
38,535,200 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5475:Wdr1
|
UTSW |
5 |
38,529,588 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5476:Wdr1
|
UTSW |
5 |
38,529,588 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5619:Wdr1
|
UTSW |
5 |
38,529,536 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5852:Wdr1
|
UTSW |
5 |
38,537,175 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5876:Wdr1
|
UTSW |
5 |
38,530,023 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6170:Wdr1
|
UTSW |
5 |
38,529,671 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R6367:Wdr1
|
UTSW |
5 |
38,545,846 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R6524:Wdr1
|
UTSW |
5 |
38,530,063 (GRCm38) |
missense |
probably benign |
0.07 |
|
R6643:Wdr1
|
UTSW |
5 |
38,540,178 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6838:Wdr1
|
UTSW |
5 |
38,530,031 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7305:Wdr1
|
UTSW |
5 |
38,540,092 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R8364:Wdr1
|
UTSW |
5 |
38,527,849 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R8380:Wdr1
|
UTSW |
5 |
38,540,521 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R9151:Wdr1
|
UTSW |
5 |
38,530,125 (GRCm38) |
splice site |
probably benign |
|
|
R9300:Wdr1
|
UTSW |
5 |
38,527,912 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9347:Wdr1
|
UTSW |
5 |
38,540,012 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9679:Wdr1
|
UTSW |
5 |
38,527,873 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation