Incidental Mutation 'R5757:Wdr4'
ID |
445120 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr4
|
Ensembl Gene |
ENSMUSG00000024037 |
Gene Name |
WD repeat domain 4 |
Synonyms |
Wh, D530049K22Rik |
MMRRC Submission |
043360-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.954)
|
Stock # |
R5757 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
31713296-31738946 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 31718063 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 337
(V337E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126061
(fasta)
|
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 damaging
Transcript: ENSMUST00000171171
AA Change: V337E
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000126061 Gene: ENSMUSG00000024037 AA Change: V337E
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: 99.5%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
C |
T |
11: 109,933,794 (GRCm39) |
A1204T |
probably benign |
Het |
Adcy5 |
G |
T |
16: 35,092,451 (GRCm39) |
R604L |
probably damaging |
Het |
Ago4 |
A |
T |
4: 126,419,877 (GRCm39) |
N33K |
probably damaging |
Het |
Arid5b |
T |
C |
10: 67,937,909 (GRCm39) |
Y406C |
probably damaging |
Het |
Asgr1 |
A |
C |
11: 69,945,778 (GRCm39) |
H18P |
probably benign |
Het |
Asph |
A |
C |
4: 9,637,722 (GRCm39) |
|
probably null |
Het |
Brd4 |
G |
A |
17: 32,420,272 (GRCm39) |
|
probably benign |
Het |
Ccdc150 |
T |
A |
1: 54,302,779 (GRCm39) |
I133N |
probably damaging |
Het |
Cdon |
A |
C |
9: 35,364,068 (GRCm39) |
H62P |
probably damaging |
Het |
Clec4b1 |
T |
A |
6: 123,046,713 (GRCm39) |
Y157* |
probably null |
Het |
Clip1 |
G |
A |
5: 123,765,460 (GRCm39) |
T810I |
probably benign |
Het |
Crocc |
A |
T |
4: 140,770,875 (GRCm39) |
L184Q |
probably damaging |
Het |
Fat2 |
C |
T |
11: 55,143,172 (GRCm39) |
G4226R |
probably damaging |
Het |
Fbxo30 |
T |
A |
10: 11,166,165 (GRCm39) |
C296S |
probably benign |
Het |
Fndc3a |
T |
C |
14: 72,794,025 (GRCm39) |
K883E |
probably benign |
Het |
Glyr1 |
A |
T |
16: 4,836,856 (GRCm39) |
M436K |
probably benign |
Het |
Gm525 |
A |
T |
11: 88,965,872 (GRCm39) |
Q38L |
probably benign |
Het |
Gnas |
T |
A |
2: 174,187,040 (GRCm39) |
V941D |
probably damaging |
Het |
Hectd4 |
G |
C |
5: 121,486,682 (GRCm39) |
E3226Q |
possibly damaging |
Het |
Ints13 |
G |
A |
6: 146,451,604 (GRCm39) |
R714C |
probably benign |
Het |
Kif12 |
A |
T |
4: 63,088,755 (GRCm39) |
W182R |
probably damaging |
Het |
Kif21a |
A |
G |
15: 90,835,548 (GRCm39) |
L1272P |
probably damaging |
Het |
Klhl14 |
A |
C |
18: 21,687,791 (GRCm39) |
Y544D |
probably damaging |
Het |
Kntc1 |
T |
C |
5: 123,945,372 (GRCm39) |
|
probably null |
Het |
Lama1 |
G |
A |
17: 68,045,782 (GRCm39) |
R229Q |
possibly damaging |
Het |
Ltbp1 |
T |
A |
17: 75,580,944 (GRCm39) |
|
probably null |
Het |
Map4k5 |
A |
T |
12: 69,871,429 (GRCm39) |
C498S |
probably damaging |
Het |
Myh9 |
A |
T |
15: 77,655,362 (GRCm39) |
V1198E |
probably benign |
Het |
Ncoa6 |
T |
C |
2: 155,253,528 (GRCm39) |
D950G |
probably damaging |
Het |
Obsl1 |
G |
T |
1: 75,469,699 (GRCm39) |
A1106D |
probably damaging |
Het |
Or5m9 |
T |
A |
2: 85,876,910 (GRCm39) |
V28E |
possibly damaging |
Het |
Or8k27 |
T |
C |
2: 86,275,922 (GRCm39) |
I135V |
probably benign |
Het |
Otog |
T |
A |
7: 45,890,545 (GRCm39) |
|
probably null |
Het |
Oxtr |
A |
T |
6: 112,454,222 (GRCm39) |
I14N |
probably damaging |
Het |
Pfkfb3 |
A |
T |
2: 11,485,141 (GRCm39) |
S490R |
probably damaging |
Het |
Polk |
A |
C |
13: 96,620,760 (GRCm39) |
M560R |
probably benign |
Het |
Polq |
C |
T |
16: 36,907,043 (GRCm39) |
H2335Y |
probably benign |
Het |
Prr14 |
T |
A |
7: 127,074,725 (GRCm39) |
V419D |
possibly damaging |
Het |
Rflnb |
A |
G |
11: 75,912,992 (GRCm39) |
V132A |
probably damaging |
Het |
Rxfp1 |
T |
G |
3: 79,568,627 (GRCm39) |
I283L |
possibly damaging |
Het |
Ryr3 |
G |
A |
2: 112,672,320 (GRCm39) |
R1384C |
probably damaging |
Het |
Scnn1g |
T |
A |
7: 121,337,438 (GRCm39) |
C100S |
probably damaging |
Het |
Sfrp2 |
G |
C |
3: 83,673,933 (GRCm39) |
G29R |
possibly damaging |
Het |
Spop |
A |
G |
11: 95,381,208 (GRCm39) |
H312R |
probably damaging |
Het |
Tpx2 |
A |
G |
2: 152,727,151 (GRCm39) |
|
probably null |
Het |
Zbtb11 |
A |
G |
16: 55,827,392 (GRCm39) |
N953D |
probably damaging |
Het |
Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably 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 |
|
R2009:Wdr4
|
UTSW |
17 |
31,719,584 (GRCm39) |
splice site |
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 |
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'- TGGATGTGAACAAGGCTGTG -3'
(R):5'- AACATGTACCATCTCCCAGGGTC -3'
Sequencing Primer
(F):5'- AACAAGGCTGTGGGGAAACC -3'
(R):5'- GCTCAGGGTCTGCAGGTAGTATAG -3'
|
Posted On |
2016-11-21 |