Incidental Mutation 'R4334:Wdr4'
| ID |
323715 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr4
|
| Ensembl Gene |
ENSMUSG00000024037 |
| Gene Name |
WD repeat domain 4 |
| Synonyms |
Wh, D530049K22Rik |
| MMRRC Submission |
041664-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R4334 (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 31718126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 316
(F316Y)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000171171
AA Change: F316Y
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000126061
Gene: ENSMUSG00000024037
AA Change: F316Y
| 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: 97.5%
- 20x: 95.8%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,537,242 (GRCm39) |
V447E |
probably damaging |
Het |
| Adcyap1 |
T |
C |
17: 93,509,696 (GRCm39) |
L49P |
probably benign |
Het |
| B4galt4 |
T |
C |
16: 38,572,621 (GRCm39) |
I102T |
probably damaging |
Het |
| Cc2d2a |
A |
G |
5: 43,840,476 (GRCm39) |
D110G |
probably benign |
Het |
| Ccdc141 |
C |
T |
2: 77,000,776 (GRCm39) |
V19I |
probably damaging |
Het |
| Ccdc39 |
A |
G |
3: 33,892,031 (GRCm39) |
L147P |
probably damaging |
Het |
| Cdc5l |
A |
T |
17: 45,721,712 (GRCm39) |
D519E |
probably benign |
Het |
| Cdh23 |
G |
T |
10: 60,220,838 (GRCm39) |
T1305K |
probably damaging |
Het |
| Cfi |
T |
A |
3: 129,644,478 (GRCm39) |
V158D |
possibly damaging |
Het |
| Clstn2 |
T |
G |
9: 97,345,581 (GRCm39) |
Y589S |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,380,640 (GRCm39) |
K1863E |
possibly damaging |
Het |
| Enpp3 |
A |
T |
10: 24,669,487 (GRCm39) |
M491K |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Fkbp15 |
G |
A |
4: 62,221,456 (GRCm39) |
A1170V |
possibly damaging |
Het |
| Foxa2 |
T |
C |
2: 147,886,623 (GRCm39) |
N64S |
possibly damaging |
Het |
| Foxm1 |
T |
C |
6: 128,342,930 (GRCm39) |
I88T |
probably damaging |
Het |
| Gm3173 |
A |
T |
14: 15,728,364 (GRCm39) |
I8L |
possibly damaging |
Het |
| Gpatch3 |
A |
G |
4: 133,309,792 (GRCm39) |
D375G |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,876,402 (GRCm39) |
F4436L |
probably damaging |
Het |
| Htr3b |
G |
A |
9: 48,856,809 (GRCm39) |
A223V |
probably damaging |
Het |
| Iars2 |
T |
A |
1: 185,035,591 (GRCm39) |
T550S |
probably benign |
Het |
| Igsf9 |
A |
T |
1: 172,321,779 (GRCm39) |
K149* |
probably null |
Het |
| Khnyn |
A |
G |
14: 56,131,499 (GRCm39) |
D536G |
probably damaging |
Het |
| Kng1 |
T |
C |
16: 22,898,370 (GRCm39) |
V409A |
possibly damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Madd |
C |
T |
2: 90,970,917 (GRCm39) |
V1508I |
probably benign |
Het |
| Micall2 |
T |
C |
5: 139,699,105 (GRCm39) |
E527G |
probably damaging |
Het |
| Myo7b |
A |
G |
18: 32,110,040 (GRCm39) |
S1141P |
probably damaging |
Het |
| Ncoa2 |
G |
A |
1: 13,245,187 (GRCm39) |
P504S |
possibly damaging |
Het |
| Notch1 |
G |
A |
2: 26,350,048 (GRCm39) |
T2364I |
probably benign |
Het |
| Pde4c |
T |
A |
8: 71,202,475 (GRCm39) |
|
probably null |
Het |
| Pik3cb |
A |
G |
9: 98,943,904 (GRCm39) |
L633P |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,299,816 (GRCm39) |
D483E |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,123,392 (GRCm39) |
N718D |
probably damaging |
Het |
| Spast |
G |
A |
17: 74,659,010 (GRCm39) |
A126T |
probably damaging |
Het |
| Ssc5d |
T |
C |
7: 4,946,663 (GRCm39) |
S1006P |
probably benign |
Het |
| Tmprss6 |
T |
A |
15: 78,343,627 (GRCm39) |
|
probably null |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Unc79 |
C |
T |
12: 103,045,233 (GRCm39) |
T803M |
probably benign |
Het |
| Vmn2r118 |
A |
T |
17: 55,917,347 (GRCm39) |
F388L |
possibly damaging |
Het |
| Vmn2r71 |
T |
C |
7: 85,269,042 (GRCm39) |
V415A |
probably benign |
Het |
| Zfp810 |
T |
C |
9: 22,190,080 (GRCm39) |
Y276C |
probably benign |
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 |
|
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'- CCTAGATGGATGTGAACAAGGCTG -3'
(R):5'- AGTGGCCATTTCACTCTTCG -3'
Sequencing Primer
(F):5'- TCAGACCACGGAGCTGCTG -3'
(R):5'- CATTTCACTCTTCGTCCTGTATTAG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation