Incidental Mutation 'R0724:Wdr1'
| ID |
262006 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr1
|
| Ensembl Gene |
ENSMUSG00000005103 |
| Gene Name |
WD repeat domain 1 |
| Synonyms |
rede, D5Wsu185e, Aip1 |
| MMRRC Submission |
038906-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0724 (G1)
|
| Quality Score |
71 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
38684149-38720265 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38698205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 192
(V192A)
|
| 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: V192A
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000005234
Gene: ENSMUSG00000005103
AA Change: V192A
| 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: 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 |
0.8316 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
| Validation Efficiency |
100% (62/62) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
G |
5: 144,981,573 (GRCm39) |
E136G |
probably benign |
Het |
| Adgre4 |
T |
A |
17: 56,159,281 (GRCm39) |
S655R |
probably benign |
Het |
| Ak7 |
T |
A |
12: 105,676,513 (GRCm39) |
V71E |
probably benign |
Het |
| Ank2 |
C |
T |
3: 126,755,986 (GRCm39) |
R1077H |
probably damaging |
Het |
| Anxa3 |
A |
G |
5: 96,976,607 (GRCm39) |
T198A |
possibly damaging |
Het |
| Atp1a1 |
A |
T |
3: 101,499,755 (GRCm39) |
I109N |
possibly damaging |
Het |
| Camta1 |
A |
G |
4: 151,162,349 (GRCm39) |
I119T |
probably damaging |
Het |
| Carm1 |
A |
G |
9: 21,498,670 (GRCm39) |
Y504C |
probably damaging |
Het |
| Casp1 |
C |
T |
9: 5,303,077 (GRCm39) |
P177L |
probably benign |
Het |
| Ccdc122 |
C |
A |
14: 77,329,517 (GRCm39) |
|
probably benign |
Het |
| Ces1a |
A |
G |
8: 93,766,141 (GRCm39) |
S158P |
probably damaging |
Het |
| Ces3a |
T |
A |
8: 105,776,827 (GRCm39) |
D103E |
possibly damaging |
Het |
| Clstn1 |
A |
C |
4: 149,728,081 (GRCm39) |
D583A |
possibly damaging |
Het |
| Corin |
A |
G |
5: 72,490,138 (GRCm39) |
|
probably benign |
Het |
| Cryba1 |
T |
C |
11: 77,610,283 (GRCm39) |
D144G |
probably damaging |
Het |
| Cwf19l2 |
G |
T |
9: 3,421,377 (GRCm39) |
|
probably null |
Het |
| Dis3l |
T |
C |
9: 64,214,408 (GRCm39) |
T1027A |
possibly damaging |
Het |
| Dop1b |
A |
G |
16: 93,559,213 (GRCm39) |
E653G |
probably benign |
Het |
| Dst |
A |
G |
1: 34,227,758 (GRCm39) |
I1459V |
probably benign |
Het |
| Dyrk3 |
T |
C |
1: 131,057,877 (GRCm39) |
T64A |
probably benign |
Het |
| Emp2 |
C |
T |
16: 10,102,479 (GRCm39) |
C111Y |
probably benign |
Het |
| Enam |
A |
G |
5: 88,649,853 (GRCm39) |
Y454C |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,193,984 (GRCm39) |
C1328S |
probably benign |
Het |
| Gata3 |
T |
C |
2: 9,879,386 (GRCm39) |
T197A |
probably benign |
Het |
| Gm1043 |
A |
G |
5: 37,344,573 (GRCm39) |
T212A |
probably damaging |
Het |
| H2-Eb1 |
T |
C |
17: 34,534,006 (GRCm39) |
|
probably benign |
Het |
| Hand1 |
T |
C |
11: 57,722,506 (GRCm39) |
H36R |
probably damaging |
Het |
| Hmgcs2 |
C |
A |
3: 98,204,317 (GRCm39) |
Y239* |
probably null |
Het |
| Hoxc12 |
A |
G |
15: 102,845,490 (GRCm39) |
Y68C |
probably damaging |
Het |
| Inpp5a |
A |
G |
7: 139,096,579 (GRCm39) |
I143V |
probably benign |
Het |
| Klhdc2 |
C |
A |
12: 69,343,822 (GRCm39) |
F18L |
probably benign |
Het |
| Kpnb1 |
T |
C |
11: 97,069,130 (GRCm39) |
Y251C |
probably damaging |
Het |
| Lrch4 |
A |
T |
5: 137,635,570 (GRCm39) |
N315I |
probably damaging |
Het |
| Map3k10 |
A |
C |
7: 27,367,780 (GRCm39) |
V286G |
probably damaging |
Het |
| Myo7b |
G |
A |
18: 32,138,602 (GRCm39) |
|
probably benign |
Het |
| Nlrp2 |
G |
T |
7: 5,322,221 (GRCm39) |
L809I |
probably damaging |
Het |
| Oacyl |
T |
C |
18: 65,870,896 (GRCm39) |
|
probably benign |
Het |
| Or4q3 |
A |
G |
14: 50,583,374 (GRCm39) |
V175A |
possibly damaging |
Het |
| Paxbp1 |
T |
A |
16: 90,833,424 (GRCm39) |
D270V |
probably damaging |
Het |
| Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
| Pira13 |
T |
C |
7: 3,819,871 (GRCm39) |
N564S |
possibly damaging |
Het |
| Plcb3 |
G |
A |
19: 6,940,760 (GRCm39) |
R359C |
probably damaging |
Het |
| Plcxd3 |
G |
A |
15: 4,546,350 (GRCm39) |
S118N |
probably damaging |
Het |
| Ptpn14 |
T |
C |
1: 189,583,144 (GRCm39) |
S664P |
possibly damaging |
Het |
| Sirt1 |
T |
C |
10: 63,159,752 (GRCm39) |
I443V |
possibly damaging |
Het |
| Slc7a8 |
G |
A |
14: 54,972,643 (GRCm39) |
|
probably benign |
Het |
| Smim14 |
A |
G |
5: 65,610,682 (GRCm39) |
|
probably benign |
Het |
| Sost |
C |
T |
11: 101,857,744 (GRCm39) |
C19Y |
probably benign |
Het |
| Tcaf1 |
G |
T |
6: 42,652,301 (GRCm39) |
A727E |
probably damaging |
Het |
| Thoc1 |
T |
C |
18: 9,963,829 (GRCm39) |
L144P |
probably damaging |
Het |
| Tmem132b |
A |
T |
5: 125,860,485 (GRCm39) |
T577S |
possibly damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Tshr |
T |
C |
12: 91,505,060 (GRCm39) |
F666S |
probably damaging |
Het |
| Zfp697 |
T |
C |
3: 98,335,482 (GRCm39) |
W416R |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCATTTCCCCAGTGATTGTGGC -3'
(R):5'- AGTGACCAGGCAGGAACAGACTTC -3'
Sequencing Primer
(F):5'- GTACAGTTGGAACCTTGAACATTC -3'
(R):5'- AAATGCCATGATGGGCTCTC -3'
|
| Posted On |
2015-02-04 |
Incidental Mutation