Incidental Mutation 'R6367:Wdr1'
| ID |
512740 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr1
|
| Ensembl Gene |
ENSMUSG00000005103 |
| Gene Name |
WD repeat domain 1 |
| Synonyms |
rede, D5Wsu185e, Aip1 |
| MMRRC Submission |
044517-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6367 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
38684149-38720265 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 38703189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 129
(A129D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005234
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005234]
[ENSMUST00000201260]
|
| AlphaFold |
O88342 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005234
AA Change: A129D
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000005234
Gene: ENSMUSG00000005103
AA Change: A129D
| 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: ENSMUST00000082485
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201150
|
| Predicted Effect |
probably benign
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: ENSMUST00000202766
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
98% (44/45) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,166,248 (GRCm39) |
N54D |
possibly damaging |
Het |
| Abca4 |
A |
C |
3: 121,897,229 (GRCm39) |
Q636P |
probably damaging |
Het |
| Agk |
T |
C |
6: 40,363,875 (GRCm39) |
F285S |
probably benign |
Het |
| Als2 |
C |
A |
1: 59,238,299 (GRCm39) |
V678L |
probably benign |
Het |
| Arhgap17 |
T |
C |
7: 122,907,586 (GRCm39) |
*231W |
probably null |
Het |
| Atp11b |
A |
G |
3: 35,838,686 (GRCm39) |
T89A |
probably damaging |
Het |
| Axl |
A |
T |
7: 25,486,858 (GRCm39) |
C50S |
probably damaging |
Het |
| Cachd1 |
A |
G |
4: 100,860,167 (GRCm39) |
D1246G |
probably damaging |
Het |
| Dip2b |
A |
T |
15: 100,013,795 (GRCm39) |
Q57L |
possibly damaging |
Het |
| Dnah14 |
A |
G |
1: 181,582,951 (GRCm39) |
|
probably null |
Het |
| Enpep |
G |
T |
3: 129,125,730 (GRCm39) |
T134N |
possibly damaging |
Het |
| Ets1 |
C |
T |
9: 32,645,256 (GRCm39) |
Q168* |
probably null |
Het |
| Fanci |
T |
C |
7: 79,075,943 (GRCm39) |
C529R |
probably damaging |
Het |
| Fbxw28 |
A |
G |
9: 109,168,599 (GRCm39) |
|
probably null |
Het |
| Gucy2c |
C |
T |
6: 136,686,776 (GRCm39) |
E796K |
probably damaging |
Het |
| Igsf9b |
G |
A |
9: 27,220,821 (GRCm39) |
W62* |
probably null |
Het |
| Kcng1 |
C |
A |
2: 168,104,572 (GRCm39) |
V425L |
probably damaging |
Het |
| Kndc1 |
T |
C |
7: 139,493,422 (GRCm39) |
S463P |
probably damaging |
Het |
| Lrba |
G |
C |
3: 86,275,869 (GRCm39) |
A1746P |
probably benign |
Het |
| Mgat4c |
G |
T |
10: 102,221,015 (GRCm39) |
|
probably null |
Het |
| Nckap1l |
G |
A |
15: 103,384,149 (GRCm39) |
M582I |
probably benign |
Het |
| Oacyl |
G |
T |
18: 65,858,515 (GRCm39) |
R207L |
probably damaging |
Het |
| Or12e13 |
T |
C |
2: 87,663,937 (GRCm39) |
C185R |
probably damaging |
Het |
| Or2m12 |
C |
T |
16: 19,104,822 (GRCm39) |
V224M |
probably damaging |
Het |
| Or4c52 |
A |
G |
2: 89,845,360 (GRCm39) |
I29V |
probably benign |
Het |
| Or51f5 |
C |
A |
7: 102,424,036 (GRCm39) |
Q102K |
possibly damaging |
Het |
| Pacsin2 |
C |
T |
15: 83,266,033 (GRCm39) |
A55T |
probably benign |
Het |
| Plekhm2 |
T |
C |
4: 141,367,016 (GRCm39) |
D208G |
probably damaging |
Het |
| Ptpru |
T |
C |
4: 131,501,663 (GRCm39) |
D1181G |
probably benign |
Het |
| Safb |
A |
G |
17: 56,900,845 (GRCm39) |
|
probably benign |
Het |
| Scp2 |
T |
A |
4: 107,969,447 (GRCm39) |
Y35F |
probably damaging |
Het |
| Secisbp2 |
A |
G |
13: 51,836,177 (GRCm39) |
Y757C |
probably damaging |
Het |
| Sp110 |
C |
T |
1: 85,522,013 (GRCm39) |
V97M |
probably benign |
Het |
| Ssx2ip |
A |
G |
3: 146,124,921 (GRCm39) |
Y82C |
probably benign |
Het |
| Svopl |
A |
T |
6: 37,996,614 (GRCm39) |
W288R |
possibly damaging |
Het |
| Tdg |
T |
C |
10: 82,483,822 (GRCm39) |
Y345H |
possibly damaging |
Het |
| Tmem109 |
A |
G |
19: 10,851,727 (GRCm39) |
F53S |
possibly damaging |
Het |
| Tpsab1 |
G |
T |
17: 25,562,448 (GRCm39) |
T293N |
probably damaging |
Het |
| Trpm8 |
A |
G |
1: 88,287,405 (GRCm39) |
D796G |
probably damaging |
Het |
| Tuba1c |
T |
C |
15: 98,935,334 (GRCm39) |
I265T |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,711,925 (GRCm39) |
V2749A |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,623,719 (GRCm39) |
L173P |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wbp2 |
G |
T |
11: 115,974,741 (GRCm39) |
T31N |
probably benign |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCCCATAGTATCAAAGCTC -3'
(R):5'- TGGATATAGAGCTTAAAGGCCC -3'
Sequencing Primer
(F):5'- GAAAGCTCACTTACACCAATTGTG -3'
(R):5'- CTTAAAGGCCCAAATGAGTCCTTAGG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation