Incidental Mutation 'IGL01478:Wdr5'
| ID |
88527 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wdr5
|
| Ensembl Gene |
ENSMUSG00000026917 |
| Gene Name |
WD repeat domain 5 |
| Synonyms |
Bmp2-induced gene, 2410008O07Rik, Big-3 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
IGL01478
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
27405169-27426547 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27423844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 294
(V294A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109585
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113952]
|
| AlphaFold |
P61965 |
| PDB Structure |
WDR5 IN COMPLEX WITH AN RBBP5 PEPTIDE RECRUITED TO NOVEL SITE [X-RAY DIFFRACTION]
WDR5 IN COMPLEX WITH AN RBBP5 PEPTIDE AND HISTONE H3 PEPTIDE [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113952
AA Change: V294A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000109585
Gene: ENSMUSG00000026917
AA Change: V294A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
WD40
|
34 |
73 |
4.11e-10 |
SMART |
|
WD40
|
76 |
115 |
1.69e-11 |
SMART |
|
WD40
|
118 |
157 |
9.22e-13 |
SMART |
|
WD40
|
160 |
199 |
1.84e-12 |
SMART |
|
WD40
|
202 |
242 |
7.33e-7 |
SMART |
|
WD40
|
245 |
287 |
1.17e-5 |
SMART |
|
WD40
|
290 |
331 |
3.27e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125088
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000140396
AA Change: V240A
|
| SMART Domains |
Protein: ENSMUSP00000121654
Gene: ENSMUSG00000026917
AA Change: V240A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
7 |
46 |
1.69e-11 |
SMART |
|
WD40
|
49 |
88 |
9.22e-13 |
SMART |
|
WD40
|
91 |
130 |
1.84e-12 |
SMART |
|
WD40
|
133 |
189 |
1.33e-4 |
SMART |
|
WD40
|
192 |
234 |
1.17e-5 |
SMART |
|
WD40
|
237 |
278 |
3.27e-4 |
SMART |
|
| Coding Region Coverage |
|
| 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 protein contains 7 WD repeats. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
G |
6: 91,911,590 (GRCm39) |
T613A |
probably benign |
Het |
| Cdh16 |
G |
T |
8: 105,341,120 (GRCm39) |
|
probably benign |
Het |
| Epn2 |
A |
G |
11: 61,413,912 (GRCm39) |
S419P |
probably benign |
Het |
| Eral1 |
A |
T |
11: 77,966,558 (GRCm39) |
V234D |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,678,949 (GRCm39) |
K576E |
possibly damaging |
Het |
| Frmd4b |
T |
A |
6: 97,305,254 (GRCm39) |
D170V |
probably damaging |
Het |
| Gm4353 |
A |
G |
7: 115,682,975 (GRCm39) |
V202A |
possibly damaging |
Het |
| Ighmbp2 |
A |
G |
19: 3,324,531 (GRCm39) |
I245T |
probably benign |
Het |
| Igsf23 |
G |
A |
7: 19,672,161 (GRCm39) |
|
probably benign |
Het |
| Krt1 |
A |
G |
15: 101,754,721 (GRCm39) |
|
probably benign |
Het |
| Mapk8 |
A |
G |
14: 33,105,857 (GRCm39) |
V371A |
probably benign |
Het |
| Mtrf1 |
T |
G |
14: 79,640,360 (GRCm39) |
|
probably benign |
Het |
| Myzap |
A |
G |
9: 71,422,349 (GRCm39) |
|
probably null |
Het |
| Nsrp1 |
C |
T |
11: 76,941,478 (GRCm39) |
V73I |
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Or52e18 |
A |
G |
7: 104,609,555 (GRCm39) |
I128T |
probably damaging |
Het |
| Or8k39 |
A |
T |
2: 86,563,673 (GRCm39) |
Y94* |
probably null |
Het |
| Pex6 |
C |
T |
17: 47,036,230 (GRCm39) |
R976C |
probably benign |
Het |
| Ranbp9 |
G |
A |
13: 43,567,560 (GRCm39) |
T546I |
probably benign |
Het |
| Rfx5 |
T |
C |
3: 94,865,751 (GRCm39) |
V350A |
possibly damaging |
Het |
| Rnf19b |
A |
G |
4: 128,952,623 (GRCm39) |
E187G |
probably damaging |
Het |
| Sbf1 |
A |
G |
15: 89,183,946 (GRCm39) |
V1217A |
probably damaging |
Het |
| Sfmbt1 |
T |
A |
14: 30,533,478 (GRCm39) |
D618E |
probably damaging |
Het |
| Sipa1l1 |
A |
G |
12: 82,493,672 (GRCm39) |
E1697G |
probably benign |
Het |
| Syk |
A |
G |
13: 52,778,784 (GRCm39) |
Y290C |
probably benign |
Het |
| Trim69 |
T |
C |
2: 122,008,924 (GRCm39) |
L328P |
probably damaging |
Het |
| Unc5c |
T |
A |
3: 141,534,212 (GRCm39) |
I911N |
probably damaging |
Het |
|
| Other mutations in Wdr5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00503:Wdr5
|
APN |
2 |
27,410,879 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02690:Wdr5
|
APN |
2 |
27,424,840 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02742:Wdr5
|
APN |
2 |
27,410,437 (GRCm39) |
splice site |
probably benign |
|
|
IGL03059:Wdr5
|
APN |
2 |
27,409,746 (GRCm39) |
unclassified |
probably benign |
|
|
R0241:Wdr5
|
UTSW |
2 |
27,423,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0630:Wdr5
|
UTSW |
2 |
27,410,619 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0738:Wdr5
|
UTSW |
2 |
27,409,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1329:Wdr5
|
UTSW |
2 |
27,421,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4130:Wdr5
|
UTSW |
2 |
27,410,441 (GRCm39) |
splice site |
probably benign |
|
|
R5488:Wdr5
|
UTSW |
2 |
27,415,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5859:Wdr5
|
UTSW |
2 |
27,423,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5879:Wdr5
|
UTSW |
2 |
27,418,323 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6775:Wdr5
|
UTSW |
2 |
27,423,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7583:Wdr5
|
UTSW |
2 |
27,408,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7849:Wdr5
|
UTSW |
2 |
27,409,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-18 |
Incidental Mutation