Incidental Mutation 'IGL02723:Wdr55'
ID |
305042 |
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 # |
IGL02723
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
36893275-36896761 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 36896435 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 375
(E375G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039010
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001416]
[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: ENSMUST00000049323
AA Change: E375G
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000039010 Gene: ENSMUSG00000042660 AA Change: E375G
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
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Capn9 |
A |
T |
8: 125,335,922 (GRCm39) |
|
probably benign |
Het |
Cchcr1 |
A |
C |
17: 35,841,699 (GRCm39) |
K761Q |
probably benign |
Het |
Cfap20dc |
T |
C |
14: 8,516,507 (GRCm38) |
N347S |
probably benign |
Het |
Csk |
G |
T |
9: 57,538,672 (GRCm39) |
|
probably benign |
Het |
Cyp2j7 |
T |
C |
4: 96,118,366 (GRCm39) |
K76E |
probably benign |
Het |
Dpep1 |
G |
A |
8: 123,920,888 (GRCm39) |
A23T |
possibly damaging |
Het |
Dpp8 |
T |
A |
9: 64,949,549 (GRCm39) |
M98K |
possibly damaging |
Het |
Dspp |
C |
A |
5: 104,323,041 (GRCm39) |
N61K |
probably benign |
Het |
Eno2 |
T |
C |
6: 124,738,626 (GRCm39) |
Y364C |
probably damaging |
Het |
Gfra1 |
A |
G |
19: 58,441,683 (GRCm39) |
S83P |
probably benign |
Het |
Gramd1b |
T |
C |
9: 40,218,127 (GRCm39) |
E563G |
probably damaging |
Het |
Kcns2 |
G |
T |
15: 34,838,961 (GRCm39) |
W108L |
probably damaging |
Het |
Mroh4 |
T |
C |
15: 74,480,086 (GRCm39) |
|
probably benign |
Het |
Obscn |
A |
T |
11: 59,015,446 (GRCm39) |
S1009T |
probably benign |
Het |
Or2y11 |
A |
G |
11: 49,443,506 (GRCm39) |
R311G |
probably benign |
Het |
Or5b119 |
A |
G |
19: 13,456,699 (GRCm39) |
Y288H |
probably damaging |
Het |
Or7g32 |
T |
C |
9: 19,388,805 (GRCm39) |
H244R |
probably damaging |
Het |
Or8b41 |
A |
G |
9: 38,054,707 (GRCm39) |
K92R |
probably benign |
Het |
Plcb2 |
G |
A |
2: 118,547,500 (GRCm39) |
|
probably benign |
Het |
Rpl13a-ps1 |
T |
A |
19: 50,019,111 (GRCm39) |
I22F |
possibly damaging |
Het |
Skil |
A |
G |
3: 31,171,673 (GRCm39) |
E599G |
probably damaging |
Het |
Snx19 |
A |
G |
9: 30,343,556 (GRCm39) |
N572S |
possibly damaging |
Het |
Spata31 |
T |
C |
13: 65,068,463 (GRCm39) |
S204P |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Tenm3 |
A |
T |
8: 48,729,938 (GRCm39) |
V1356E |
probably benign |
Het |
Trpc3 |
T |
A |
3: 36,704,377 (GRCm39) |
I527F |
probably benign |
Het |
Vmn2r69 |
A |
G |
7: 85,059,416 (GRCm39) |
W498R |
probably damaging |
Het |
Vwde |
T |
A |
6: 13,205,759 (GRCm39) |
I263L |
probably damaging |
Het |
Vwf |
G |
T |
6: 125,619,893 (GRCm39) |
V1524L |
possibly damaging |
Het |
|
Other mutations in Wdr55 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01112:Wdr55
|
APN |
18 |
36,895,132 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02720: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 |
2015-04-16 |