Incidental Mutation 'IGL03183:Wdr1'
ID |
412354 |
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 # |
IGL03183
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
38684149-38720265 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 38690825 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143937
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005234]
[ENSMUST00000201260]
|
AlphaFold |
O88342 |
Predicted Effect |
probably null
Transcript: ENSMUST00000005234
|
SMART Domains |
Protein: ENSMUSP00000005234 Gene: ENSMUSG00000005103
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 null
Transcript: ENSMUST00000201260
|
SMART Domains |
Protein: ENSMUSP00000143937 Gene: ENSMUSG00000005103
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh6a1 |
A |
G |
12: 84,483,214 (GRCm39) |
|
probably null |
Het |
Ano2 |
A |
T |
6: 125,687,592 (GRCm39) |
K32N |
probably benign |
Het |
Asic1 |
A |
G |
15: 99,569,898 (GRCm39) |
H73R |
probably benign |
Het |
B3glct |
A |
G |
5: 149,677,607 (GRCm39) |
D412G |
probably damaging |
Het |
Baz2b |
T |
C |
2: 59,733,640 (GRCm39) |
I1891V |
probably benign |
Het |
Cc2d2a |
A |
G |
5: 43,889,721 (GRCm39) |
E1278G |
probably damaging |
Het |
Ccdc116 |
T |
C |
16: 16,960,718 (GRCm39) |
E33G |
probably benign |
Het |
Celf4 |
T |
A |
18: 25,670,796 (GRCm39) |
Q129L |
probably benign |
Het |
Celf4 |
G |
T |
18: 25,670,797 (GRCm39) |
Q129K |
probably benign |
Het |
Cfap251 |
A |
G |
5: 123,392,682 (GRCm39) |
|
probably benign |
Het |
Col18a1 |
A |
G |
10: 76,909,588 (GRCm39) |
S817P |
probably damaging |
Het |
Corin |
A |
G |
5: 72,458,929 (GRCm39) |
V940A |
probably damaging |
Het |
Dlgap2 |
A |
T |
8: 14,777,525 (GRCm39) |
N257Y |
possibly damaging |
Het |
Dnah2 |
C |
A |
11: 69,349,314 (GRCm39) |
V2441L |
possibly damaging |
Het |
Evpl |
C |
T |
11: 116,112,438 (GRCm39) |
E1751K |
probably damaging |
Het |
Fat1 |
G |
A |
8: 45,403,623 (GRCm39) |
E125K |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,881,640 (GRCm39) |
|
probably benign |
Het |
Fryl |
G |
A |
5: 73,234,038 (GRCm39) |
P1496S |
probably benign |
Het |
G3bp2 |
A |
C |
5: 92,202,905 (GRCm39) |
M362R |
possibly damaging |
Het |
Grk5 |
T |
C |
19: 61,057,774 (GRCm39) |
F158S |
probably damaging |
Het |
Hmbox1 |
G |
T |
14: 65,125,048 (GRCm39) |
Q188K |
probably damaging |
Het |
Ift172 |
A |
T |
5: 31,429,348 (GRCm39) |
D604E |
probably benign |
Het |
Igkv6-32 |
T |
A |
6: 70,051,556 (GRCm39) |
T5S |
probably benign |
Het |
Impa1 |
A |
G |
3: 10,388,054 (GRCm39) |
Y123H |
probably damaging |
Het |
Itgb4 |
C |
T |
11: 115,879,550 (GRCm39) |
T612M |
probably damaging |
Het |
Med12l |
T |
A |
3: 58,944,976 (GRCm39) |
|
probably null |
Het |
Meis2 |
A |
G |
2: 115,890,002 (GRCm39) |
L160S |
probably damaging |
Het |
Micu1 |
C |
T |
10: 59,563,870 (GRCm39) |
R31* |
probably null |
Het |
Nlrp9a |
G |
T |
7: 26,256,882 (GRCm39) |
A167S |
probably damaging |
Het |
Or10j27 |
A |
G |
1: 172,958,425 (GRCm39) |
Y120H |
probably damaging |
Het |
Or4d10 |
A |
T |
19: 12,051,392 (GRCm39) |
N201K |
probably damaging |
Het |
Plpp6 |
A |
G |
19: 28,942,071 (GRCm39) |
N224S |
possibly damaging |
Het |
Sdk2 |
T |
A |
11: 113,741,810 (GRCm39) |
H803L |
probably benign |
Het |
Shld2 |
T |
C |
14: 33,967,143 (GRCm39) |
T690A |
probably benign |
Het |
Slc36a1 |
T |
A |
11: 55,119,017 (GRCm39) |
Y331N |
probably damaging |
Het |
Spata31d1c |
A |
T |
13: 65,183,009 (GRCm39) |
I184F |
possibly damaging |
Het |
Stat3 |
T |
C |
11: 100,793,582 (GRCm39) |
I338V |
possibly damaging |
Het |
Stk10 |
T |
A |
11: 32,554,143 (GRCm39) |
V610E |
possibly damaging |
Het |
Syna |
A |
G |
5: 134,587,144 (GRCm39) |
S602P |
probably benign |
Het |
Tap2 |
T |
A |
17: 34,424,399 (GRCm39) |
|
probably benign |
Het |
Tln1 |
T |
C |
4: 43,539,084 (GRCm39) |
|
probably benign |
Het |
Tra2b |
C |
A |
16: 22,073,303 (GRCm39) |
|
probably benign |
Het |
Ttc7b |
T |
C |
12: 100,339,968 (GRCm39) |
|
probably null |
Het |
Vmn2r121 |
G |
A |
X: 123,042,023 (GRCm39) |
T378I |
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 |
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 |
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 |
2016-08-02 |