Incidental Mutation 'IGL01112:Wdr55'
| ID |
53185 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wdr55
|
| Ensembl Gene |
ENSMUSG00000042660 |
| Gene Name |
WD repeat domain 55 |
| Synonyms |
2410080P20Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01112
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
36893275-36896761 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 36895132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001416]
[ENSMUST00000007042]
[ENSMUST00000049323]
[ENSMUST00000061522]
|
| AlphaFold |
Q9CX97 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001416
|
| SMART Domains |
Protein: ENSMUSP00000001416
Gene: ENSMUSG00000001380
| Domain | Start | End | E-Value | Type |
|---|
|
WHEP-TRS
|
7 |
60 |
5.37e-11 |
SMART |
|
Pfam:tRNA-synt_His
|
61 |
389 |
1.9e-41 |
PFAM |
|
Pfam:HGTP_anticodon2
|
404 |
507 |
3.3e-12 |
PFAM |
|
Pfam:HGTP_anticodon
|
410 |
501 |
4.4e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007042
|
| SMART Domains |
Protein: ENSMUSP00000007042
Gene: ENSMUSG00000024474
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
56 |
N/A |
INTRINSIC |
|
Pfam:RED_N
|
76 |
302 |
1.6e-105 |
PFAM |
|
low complexity region
|
334 |
380 |
N/A |
INTRINSIC |
|
Pfam:RED_C
|
445 |
554 |
1.1e-52 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000049323
|
| SMART Domains |
Protein: ENSMUSP00000039010
Gene: ENSMUSG00000042660
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
|
WD40
|
31 |
67 |
4.6e0 |
SMART |
|
WD40
|
74 |
113 |
1.12e-2 |
SMART |
|
WD40
|
116 |
155 |
2.4e-2 |
SMART |
|
WD40
|
158 |
197 |
2.76e-2 |
SMART |
|
WD40
|
202 |
239 |
1.72e0 |
SMART |
|
WD40
|
284 |
324 |
2.01e-4 |
SMART |
|
low complexity region
|
380 |
388 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061522
|
| SMART Domains |
Protein: ENSMUSP00000054412
Gene: ENSMUSG00000044595
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
58 |
N/A |
INTRINSIC |
|
RRM
|
59 |
132 |
2.49e-10 |
SMART |
|
RRM
|
139 |
214 |
3.01e-1 |
SMART |
|
Pfam:DND1_DSRM
|
253 |
333 |
1.1e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124038
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155827
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224284
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice display embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano1 |
T |
C |
7: 144,190,882 (GRCm39) |
I401V |
possibly damaging |
Het |
| Ap2a2 |
A |
T |
7: 141,184,932 (GRCm39) |
|
probably benign |
Het |
| Apol7c |
T |
A |
15: 77,410,637 (GRCm39) |
D103V |
probably damaging |
Het |
| Arid4a |
T |
C |
12: 71,119,507 (GRCm39) |
|
probably null |
Het |
| Atp2a1 |
A |
G |
7: 126,049,479 (GRCm39) |
V521A |
probably benign |
Het |
| Ccdc88c |
G |
T |
12: 100,883,062 (GRCm39) |
D1603E |
probably benign |
Het |
| Clec4f |
T |
C |
6: 83,630,182 (GRCm39) |
I125M |
probably benign |
Het |
| Dsc1 |
T |
C |
18: 20,227,679 (GRCm39) |
I520V |
probably benign |
Het |
| Eomes |
G |
A |
9: 118,311,334 (GRCm39) |
A386T |
probably damaging |
Het |
| Gldc |
C |
T |
19: 30,135,913 (GRCm39) |
|
probably null |
Het |
| Hectd4 |
G |
T |
5: 121,445,013 (GRCm39) |
M1420I |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,508,303 (GRCm39) |
|
probably benign |
Het |
| Ighv6-3 |
G |
A |
12: 114,355,335 (GRCm39) |
T118I |
possibly damaging |
Het |
| Krt82 |
A |
G |
15: 101,453,958 (GRCm39) |
F250S |
probably damaging |
Het |
| Ltb |
A |
G |
17: 35,413,576 (GRCm39) |
T27A |
probably benign |
Het |
| Mex3b |
T |
A |
7: 82,518,911 (GRCm39) |
S409T |
probably benign |
Het |
| Mki67 |
A |
T |
7: 135,315,745 (GRCm39) |
I39N |
probably damaging |
Het |
| Or51a7 |
A |
G |
7: 102,615,235 (GRCm39) |
|
probably benign |
Het |
| Palmd |
A |
G |
3: 116,717,922 (GRCm39) |
S192P |
probably damaging |
Het |
| Pcdh20 |
A |
T |
14: 88,704,636 (GRCm39) |
M888K |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,731,083 (GRCm39) |
H3195L |
unknown |
Het |
| Pgm2 |
A |
T |
5: 64,260,225 (GRCm39) |
I137F |
possibly damaging |
Het |
| Polq |
T |
A |
16: 36,837,671 (GRCm39) |
N194K |
probably damaging |
Het |
| Rmnd1 |
T |
C |
10: 4,360,793 (GRCm39) |
|
probably null |
Het |
| Rnf114 |
T |
C |
2: 167,354,459 (GRCm39) |
M180T |
probably damaging |
Het |
| Sap30 |
A |
G |
8: 57,938,123 (GRCm39) |
F165L |
possibly damaging |
Het |
| Scgb3a2 |
T |
A |
18: 43,900,059 (GRCm39) |
|
probably benign |
Het |
| Sftpa1 |
A |
T |
14: 40,854,527 (GRCm39) |
N38I |
probably benign |
Het |
| Sumf1 |
A |
G |
6: 108,152,977 (GRCm39) |
F137S |
probably damaging |
Het |
| Tln2 |
C |
A |
9: 67,219,093 (GRCm39) |
R284L |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,570,703 (GRCm39) |
R26730Q |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,540,808 (GRCm39) |
R25732S |
probably damaging |
Het |
| Tubgcp4 |
T |
C |
2: 121,004,082 (GRCm39) |
V41A |
probably benign |
Het |
| Usp53 |
T |
A |
3: 122,751,367 (GRCm39) |
Q230L |
probably damaging |
Het |
| Vmn2r57 |
T |
C |
7: 41,074,467 (GRCm39) |
E532G |
probably damaging |
Het |
| Vps9d1 |
G |
T |
8: 123,972,769 (GRCm39) |
N454K |
probably damaging |
Het |
| Zfp263 |
T |
A |
16: 3,566,776 (GRCm39) |
C76S |
probably benign |
Het |
|
| Other mutations in Wdr55 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02720:Wdr55
|
APN |
18 |
36,896,435 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02723:Wdr55
|
APN |
18 |
36,896,435 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02726:Wdr55
|
APN |
18 |
36,896,435 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02728:Wdr55
|
APN |
18 |
36,896,435 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02729:Wdr55
|
APN |
18 |
36,896,435 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02731:Wdr55
|
APN |
18 |
36,896,435 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1420:Wdr55
|
UTSW |
18 |
36,893,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1952:Wdr55
|
UTSW |
18 |
36,893,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2143:Wdr55
|
UTSW |
18 |
36,895,419 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2144:Wdr55
|
UTSW |
18 |
36,895,419 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4323:Wdr55
|
UTSW |
18 |
36,896,153 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4497:Wdr55
|
UTSW |
18 |
36,893,448 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4937:Wdr55
|
UTSW |
18 |
36,895,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5662:Wdr55
|
UTSW |
18 |
36,893,448 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6315:Wdr55
|
UTSW |
18 |
36,895,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6499:Wdr55
|
UTSW |
18 |
36,895,231 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6679:Wdr55
|
UTSW |
18 |
36,896,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7038:Wdr55
|
UTSW |
18 |
36,893,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7151:Wdr55
|
UTSW |
18 |
36,895,989 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7687:Wdr55
|
UTSW |
18 |
36,895,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7808:Wdr55
|
UTSW |
18 |
36,893,469 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9365:Wdr55
|
UTSW |
18 |
36,893,354 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2013-06-21 |
Incidental Mutation