Incidental Mutation 'R2009:Wdr4'
| ID |
219398 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr4
|
| Ensembl Gene |
ENSMUSG00000024037 |
| Gene Name |
WD repeat domain 4 |
| Synonyms |
Wh, D530049K22Rik |
| MMRRC Submission |
040018-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R2009 (G1)
|
| Quality Score |
197 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
31713296-31738946 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 31719584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167419]
[ENSMUST00000171171]
[ENSMUST00000171291]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166626
|
| SMART Domains |
Protein: ENSMUSP00000125954
Gene: ENSMUSG00000024037
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1kb0a2
|
18 |
93 |
1e-2 |
SMART |
|
Blast:WD40
|
39 |
91 |
1e-30 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166992
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167419
|
| SMART Domains |
Protein: ENSMUSP00000127617
Gene: ENSMUSG00000024037
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1e1aa_
|
71 |
143 |
5e-4 |
SMART |
|
Blast:WD40
|
74 |
134 |
2e-36 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169224
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169454
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170176
|
| SMART Domains |
Protein: ENSMUSP00000127073
Gene: ENSMUSG00000024037
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1e1aa_
|
33 |
105 |
9e-4 |
SMART |
|
Blast:WD40
|
36 |
96 |
8e-37 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171171
|
| SMART Domains |
Protein: ENSMUSP00000126061
Gene: ENSMUSG00000024037
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
74 |
134 |
1.58e2 |
SMART |
|
WD40
|
137 |
175 |
2.37e2 |
SMART |
|
WD40
|
178 |
218 |
4.44e0 |
SMART |
|
WD40
|
222 |
262 |
3.5e-4 |
SMART |
|
low complexity region
|
417 |
434 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172284
|
| SMART Domains |
Protein: ENSMUSP00000129736
Gene: ENSMUSG00000024037
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
36 |
88 |
2e-30 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171291
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (47/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is excluded as a candidate for a form of nonsyndromic deafness (DFNB10), but is still a candidate for other disorders mapped to 21q22.3 as well as for the development of Down syndrome phenotypes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a null allele display lethality during organogenesis with increased apoptosis and DNA damage. [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 |
|---|
| Adamts15 |
T |
A |
9: 30,833,433 (GRCm39) |
D34V |
probably benign |
Het |
| Adgrf1 |
A |
T |
17: 43,632,112 (GRCm39) |
R884* |
probably null |
Het |
| Adgrg7 |
T |
C |
16: 56,582,236 (GRCm39) |
T301A |
probably benign |
Het |
| Arhgef17 |
A |
G |
7: 100,530,988 (GRCm39) |
I1366T |
probably damaging |
Het |
| C1s2 |
A |
T |
6: 124,612,048 (GRCm39) |
L112H |
probably damaging |
Het |
| C2cd6 |
A |
T |
1: 59,042,391 (GRCm39) |
|
noncoding transcript |
Het |
| Cfap74 |
G |
A |
4: 155,504,724 (GRCm39) |
R103H |
possibly damaging |
Het |
| Col7a1 |
A |
T |
9: 108,797,943 (GRCm39) |
|
probably null |
Het |
| Dmp1 |
A |
G |
5: 104,360,706 (GRCm39) |
S461G |
probably damaging |
Het |
| Eif4g2 |
A |
T |
7: 110,673,405 (GRCm39) |
D753E |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Etv4 |
T |
C |
11: 101,665,063 (GRCm39) |
D130G |
probably damaging |
Het |
| Gabbr2 |
A |
T |
4: 46,734,119 (GRCm39) |
I533N |
probably damaging |
Het |
| Gne |
T |
C |
4: 44,055,273 (GRCm39) |
E234G |
probably benign |
Het |
| Itga6 |
C |
A |
2: 71,647,025 (GRCm39) |
N78K |
probably benign |
Het |
| Lap3 |
C |
T |
5: 45,650,899 (GRCm39) |
T33M |
probably benign |
Het |
| Limd1 |
A |
G |
9: 123,308,564 (GRCm39) |
S88G |
probably benign |
Het |
| Lrp1 |
G |
T |
10: 127,380,385 (GRCm39) |
T3922K |
probably damaging |
Het |
| Map4k3 |
A |
G |
17: 80,971,517 (GRCm39) |
|
probably benign |
Het |
| Mib1 |
T |
C |
18: 10,812,118 (GRCm39) |
L263S |
probably damaging |
Het |
| Ncor1 |
T |
C |
11: 62,216,427 (GRCm39) |
S1474G |
probably benign |
Het |
| Nkapl |
A |
C |
13: 21,651,607 (GRCm39) |
S335R |
probably damaging |
Het |
| Nrg3 |
A |
G |
14: 38,092,771 (GRCm39) |
S605P |
probably damaging |
Het |
| Or10x4 |
G |
T |
1: 174,218,995 (GRCm39) |
R120L |
possibly damaging |
Het |
| Or52b3 |
A |
G |
7: 102,204,151 (GRCm39) |
Y220C |
probably damaging |
Het |
| Patj |
G |
A |
4: 98,344,406 (GRCm39) |
D577N |
probably damaging |
Het |
| Pfpl |
A |
C |
19: 12,407,319 (GRCm39) |
K523N |
possibly damaging |
Het |
| Pik3c2a |
A |
C |
7: 115,963,738 (GRCm39) |
L924R |
probably damaging |
Het |
| Pkd2l1 |
C |
A |
19: 44,144,403 (GRCm39) |
R278L |
probably benign |
Het |
| Prss2 |
A |
T |
6: 41,500,910 (GRCm39) |
I108F |
probably damaging |
Het |
| Rnase2b |
A |
G |
14: 51,400,347 (GRCm39) |
T143A |
possibly damaging |
Het |
| Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
| Sphk2 |
A |
T |
7: 45,360,437 (GRCm39) |
H522Q |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,235,261 (GRCm39) |
|
probably null |
Het |
| Tmem88 |
C |
A |
11: 69,288,602 (GRCm39) |
A106S |
probably damaging |
Het |
| Trappc14 |
C |
A |
5: 138,259,191 (GRCm39) |
C434F |
probably damaging |
Het |
| Trim39 |
A |
G |
17: 36,574,646 (GRCm39) |
L252S |
possibly damaging |
Het |
| Trim60 |
T |
A |
8: 65,453,975 (GRCm39) |
E91D |
probably damaging |
Het |
| Trpm5 |
A |
G |
7: 142,641,475 (GRCm39) |
I145T |
possibly damaging |
Het |
| Vmn2r107 |
A |
T |
17: 20,595,729 (GRCm39) |
M761L |
probably benign |
Het |
| Wfs1 |
A |
T |
5: 37,125,653 (GRCm39) |
S413T |
probably damaging |
Het |
| Wnt2 |
A |
T |
6: 18,030,208 (GRCm39) |
W27R |
probably damaging |
Het |
| Zc3h3 |
A |
T |
15: 75,651,158 (GRCm39) |
H687Q |
probably damaging |
Het |
| Zfp750 |
G |
A |
11: 121,403,951 (GRCm39) |
P308L |
possibly damaging |
Het |
|
| Other mutations in Wdr4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00817:Wdr4
|
APN |
17 |
31,720,232 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03158:Wdr4
|
APN |
17 |
31,718,102 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0091:Wdr4
|
UTSW |
17 |
31,715,890 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1524:Wdr4
|
UTSW |
17 |
31,728,737 (GRCm39) |
intron |
probably benign |
|
|
R3822:Wdr4
|
UTSW |
17 |
31,731,195 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4334:Wdr4
|
UTSW |
17 |
31,718,126 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4786:Wdr4
|
UTSW |
17 |
31,728,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4873:Wdr4
|
UTSW |
17 |
31,718,129 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4875:Wdr4
|
UTSW |
17 |
31,718,129 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5117:Wdr4
|
UTSW |
17 |
31,718,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5372:Wdr4
|
UTSW |
17 |
31,729,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5757:Wdr4
|
UTSW |
17 |
31,718,063 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6024:Wdr4
|
UTSW |
17 |
31,720,272 (GRCm39) |
intron |
probably benign |
|
|
R7401:Wdr4
|
UTSW |
17 |
31,728,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7836:Wdr4
|
UTSW |
17 |
31,718,782 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9727:Wdr4
|
UTSW |
17 |
31,718,045 (GRCm39) |
missense |
probably benign |
0.14 |
|
Z1176:Wdr4
|
UTSW |
17 |
31,728,873 (GRCm39) |
missense |
probably benign |
0.15 |
|
Z1187:Wdr4
|
UTSW |
17 |
31,731,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1192:Wdr4
|
UTSW |
17 |
31,731,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATTCCTGGAGGCCTTCCTG -3'
(R):5'- GAGTTTTCTTCATAAGGGAGCCC -3'
Sequencing Primer
(F):5'- GAGGCCTTCCTGTTCTGCCAG -3'
(R):5'- TGCACCCAGCCATGTTCAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation