Incidental Mutation 'IGL00928:Wdr93'
ID |
27822 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Wdr93
|
Ensembl Gene |
ENSMUSG00000039099 |
Gene Name |
WD repeat domain 93 |
Synonyms |
EG626359 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
IGL00928
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
79392911-79435698 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 79425301 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 540
(P540Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037467
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035622]
|
AlphaFold |
Q402B2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035622
AA Change: P540Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000037467 Gene: ENSMUSG00000039099 AA Change: P540Q
Domain | Start | End | E-Value | Type |
low complexity region
|
240 |
251 |
N/A |
INTRINSIC |
low complexity region
|
265 |
274 |
N/A |
INTRINSIC |
SCOP:d1jofa_
|
389 |
607 |
7e-4 |
SMART |
Blast:WD40
|
413 |
451 |
2e-11 |
BLAST |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
A |
T |
16: 20,217,720 (GRCm39) |
|
probably benign |
Het |
Ablim3 |
T |
C |
18: 61,982,477 (GRCm39) |
E156G |
possibly damaging |
Het |
Adgrb2 |
A |
G |
4: 129,886,096 (GRCm39) |
T79A |
probably benign |
Het |
Arel1 |
A |
T |
12: 84,980,936 (GRCm39) |
V357E |
probably damaging |
Het |
Asph |
T |
C |
4: 9,594,675 (GRCm39) |
I241V |
probably benign |
Het |
B3galt2 |
A |
G |
1: 143,522,893 (GRCm39) |
Y343C |
probably damaging |
Het |
Brf1 |
A |
G |
12: 112,927,220 (GRCm39) |
|
probably benign |
Het |
Col3a1 |
A |
G |
1: 45,380,018 (GRCm39) |
|
probably benign |
Het |
Cps1 |
A |
C |
1: 67,162,393 (GRCm39) |
T24P |
probably benign |
Het |
Cyp3a25 |
A |
G |
5: 145,923,764 (GRCm39) |
L293P |
possibly damaging |
Het |
Engase |
C |
A |
11: 118,373,796 (GRCm39) |
R313S |
possibly damaging |
Het |
Espn |
A |
G |
4: 152,220,059 (GRCm39) |
S28P |
probably damaging |
Het |
Gnas |
T |
A |
2: 174,139,746 (GRCm39) |
L31* |
probably null |
Het |
Gorasp2 |
A |
G |
2: 70,521,208 (GRCm39) |
T393A |
probably benign |
Het |
Gpc6 |
T |
A |
14: 117,163,370 (GRCm39) |
V8E |
possibly damaging |
Het |
Gtf2a1l |
T |
C |
17: 89,001,890 (GRCm39) |
S202P |
probably benign |
Het |
Gucy1a2 |
T |
C |
9: 3,759,777 (GRCm39) |
F528L |
probably damaging |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Igsf10 |
T |
C |
3: 59,238,018 (GRCm39) |
H721R |
probably benign |
Het |
Kcnu1 |
T |
C |
8: 26,339,763 (GRCm39) |
F27S |
probably damaging |
Het |
Mprip |
T |
A |
11: 59,635,578 (GRCm39) |
W366R |
probably damaging |
Het |
Myom1 |
T |
C |
17: 71,396,908 (GRCm39) |
V954A |
probably damaging |
Het |
Nudt13 |
T |
C |
14: 20,366,231 (GRCm39) |
I303T |
possibly damaging |
Het |
Or10s1 |
T |
A |
9: 39,986,072 (GRCm39) |
H160Q |
probably damaging |
Het |
Or2h1 |
A |
C |
17: 37,404,224 (GRCm39) |
S181A |
probably benign |
Het |
Orc4 |
A |
G |
2: 48,800,281 (GRCm39) |
V289A |
probably benign |
Het |
Pamr1 |
C |
A |
2: 102,469,686 (GRCm39) |
Q411K |
probably benign |
Het |
Pdcl |
A |
G |
2: 37,247,386 (GRCm39) |
M1T |
probably null |
Het |
Phf20 |
T |
C |
2: 156,146,736 (GRCm39) |
|
probably null |
Het |
Pla2r1 |
T |
C |
2: 60,365,424 (GRCm39) |
S49G |
probably damaging |
Het |
Ppp2r3c |
A |
G |
12: 55,339,283 (GRCm39) |
|
probably null |
Het |
Rdh14 |
G |
A |
12: 10,444,803 (GRCm39) |
S218N |
probably damaging |
Het |
Rfx4 |
A |
G |
10: 84,675,978 (GRCm39) |
R16G |
probably benign |
Het |
Scarb2 |
A |
C |
5: 92,594,203 (GRCm39) |
F453C |
probably damaging |
Het |
Sh2d7 |
A |
G |
9: 54,448,515 (GRCm39) |
T179A |
probably benign |
Het |
Spag6l |
C |
T |
16: 16,584,877 (GRCm39) |
A424T |
possibly damaging |
Het |
Trim71 |
T |
C |
9: 114,354,083 (GRCm39) |
D307G |
probably benign |
Het |
Ufl1 |
A |
T |
4: 25,267,790 (GRCm39) |
L294M |
probably damaging |
Het |
Wmp |
T |
A |
X: 106,989,449 (GRCm39) |
E488V |
possibly damaging |
Het |
|
Other mutations in Wdr93 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01910:Wdr93
|
APN |
7 |
79,421,321 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01977:Wdr93
|
APN |
7 |
79,402,253 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01979:Wdr93
|
APN |
7 |
79,426,400 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02191:Wdr93
|
APN |
7 |
79,398,968 (GRCm39) |
missense |
probably damaging |
0.98 |
R0008:Wdr93
|
UTSW |
7 |
79,408,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R0008:Wdr93
|
UTSW |
7 |
79,408,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R1136:Wdr93
|
UTSW |
7 |
79,423,196 (GRCm39) |
missense |
probably damaging |
1.00 |
R1168:Wdr93
|
UTSW |
7 |
79,398,922 (GRCm39) |
missense |
probably damaging |
0.99 |
R1586:Wdr93
|
UTSW |
7 |
79,418,109 (GRCm39) |
missense |
probably damaging |
0.99 |
R1605:Wdr93
|
UTSW |
7 |
79,421,257 (GRCm39) |
splice site |
probably null |
|
R1651:Wdr93
|
UTSW |
7 |
79,399,830 (GRCm39) |
missense |
probably benign |
0.00 |
R3078:Wdr93
|
UTSW |
7 |
79,402,241 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3689:Wdr93
|
UTSW |
7 |
79,421,333 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4013:Wdr93
|
UTSW |
7 |
79,418,159 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4771:Wdr93
|
UTSW |
7 |
79,426,511 (GRCm39) |
missense |
probably damaging |
0.99 |
R4824:Wdr93
|
UTSW |
7 |
79,399,817 (GRCm39) |
nonsense |
probably null |
|
R4887:Wdr93
|
UTSW |
7 |
79,435,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R5172:Wdr93
|
UTSW |
7 |
79,402,241 (GRCm39) |
missense |
probably damaging |
0.97 |
R5510:Wdr93
|
UTSW |
7 |
79,399,779 (GRCm39) |
missense |
probably damaging |
1.00 |
R5625:Wdr93
|
UTSW |
7 |
79,420,766 (GRCm39) |
missense |
probably benign |
0.00 |
R5648:Wdr93
|
UTSW |
7 |
79,426,974 (GRCm39) |
missense |
probably benign |
0.04 |
R5950:Wdr93
|
UTSW |
7 |
79,423,179 (GRCm39) |
missense |
probably damaging |
0.99 |
R6147:Wdr93
|
UTSW |
7 |
79,408,245 (GRCm39) |
missense |
probably benign |
|
R6530:Wdr93
|
UTSW |
7 |
79,405,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R7056:Wdr93
|
UTSW |
7 |
79,399,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R7079:Wdr93
|
UTSW |
7 |
79,399,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R7309:Wdr93
|
UTSW |
7 |
79,423,103 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7397:Wdr93
|
UTSW |
7 |
79,416,172 (GRCm39) |
missense |
probably null |
0.01 |
R7426:Wdr93
|
UTSW |
7 |
79,427,055 (GRCm39) |
critical splice donor site |
probably null |
|
R7455:Wdr93
|
UTSW |
7 |
79,425,267 (GRCm39) |
missense |
probably benign |
0.09 |
R7618:Wdr93
|
UTSW |
7 |
79,435,474 (GRCm39) |
missense |
probably benign |
0.02 |
R8360:Wdr93
|
UTSW |
7 |
79,398,974 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2013-04-17 |