Incidental Mutation 'R4130:Wdr5'
ID |
315499 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr5
|
Ensembl Gene |
ENSMUSG00000026917 |
Gene Name |
WD repeat domain 5 |
Synonyms |
Bmp2-induced gene, 2410008O07Rik, Big-3 |
MMRRC Submission |
041636-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
R4130 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
27405169-27426547 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to T
at 27410441 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113952]
|
AlphaFold |
P61965 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000113952
|
SMART Domains |
Protein: ENSMUSP00000109585 Gene: ENSMUSG00000026917
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 |
probably benign
Transcript: ENSMUST00000140396
|
SMART Domains |
Protein: ENSMUSP00000121654 Gene: ENSMUSG00000026917
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144315
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
100% (29/29) |
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700021A07Rik |
T |
C |
10: 21,301,441 (GRCm39) |
|
noncoding transcript |
Het |
A4gnt |
A |
G |
9: 99,502,671 (GRCm39) |
D277G |
possibly damaging |
Het |
Adam12 |
C |
T |
7: 133,514,653 (GRCm39) |
V345I |
probably damaging |
Het |
Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
Arpp21 |
T |
A |
9: 111,984,376 (GRCm39) |
|
probably benign |
Het |
Bbx |
T |
C |
16: 50,045,221 (GRCm39) |
K447E |
probably damaging |
Het |
Bcar1 |
A |
G |
8: 112,440,797 (GRCm39) |
L399P |
possibly damaging |
Het |
Cytl1 |
T |
C |
5: 37,892,985 (GRCm39) |
S32P |
probably damaging |
Het |
Eif4e1b |
C |
T |
13: 54,935,130 (GRCm39) |
T219M |
probably benign |
Het |
F10 |
A |
G |
8: 13,105,584 (GRCm39) |
D383G |
possibly damaging |
Het |
Gm37267 |
T |
G |
1: 180,336,643 (GRCm39) |
|
noncoding transcript |
Het |
Golga2 |
G |
A |
2: 32,178,178 (GRCm39) |
R29H |
probably benign |
Het |
Gpd1 |
A |
T |
15: 99,617,158 (GRCm39) |
|
probably null |
Het |
Lrrk2 |
G |
A |
15: 91,639,997 (GRCm39) |
R1514Q |
probably benign |
Het |
Map1b |
T |
C |
13: 99,568,188 (GRCm39) |
E1511G |
unknown |
Het |
Nup35 |
G |
A |
2: 80,486,443 (GRCm39) |
|
probably benign |
Het |
Or13n4 |
C |
T |
7: 106,422,792 (GRCm39) |
G314S |
probably benign |
Het |
Pdzd9 |
A |
T |
7: 120,262,092 (GRCm39) |
D123E |
possibly damaging |
Het |
Pramel29 |
T |
A |
4: 143,935,379 (GRCm39) |
I121F |
probably damaging |
Het |
Rab3gap2 |
A |
G |
1: 184,936,494 (GRCm39) |
D19G |
possibly damaging |
Het |
Rnf213 |
T |
C |
11: 119,373,832 (GRCm39) |
S4972P |
probably damaging |
Het |
Skap1 |
A |
G |
11: 96,416,871 (GRCm39) |
Y52C |
probably damaging |
Het |
Sphkap |
T |
C |
1: 83,255,619 (GRCm39) |
N710S |
probably damaging |
Het |
Tedc1 |
T |
A |
12: 113,126,828 (GRCm39) |
D363E |
probably benign |
Het |
Vmn2r44 |
T |
A |
7: 8,370,918 (GRCm39) |
Q709H |
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 |
IGL01478:Wdr5
|
APN |
2 |
27,423,844 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACACTGGCTGGATTTCCTGAC -3'
(R):5'- ACGTAGTTACTGTGGCCCTTC -3'
Sequencing Primer
(F):5'- GCTGGATTTCCTGACAGCATG -3'
(R):5'- AAGGTCTGTGACTTCCAG -3'
|
Posted On |
2015-05-14 |