Incidental Mutation 'IGL01979:Wdr93'
| ID |
181809 |
| 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: 0.056)
|
| Stock # |
IGL01979
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
79392911-79435698 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79426400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 555
(Q555L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035622]
|
| AlphaFold |
Q402B2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035622
AA Change: Q555L
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000037467
Gene: ENSMUSG00000039099
AA Change: Q555L
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
| Ap3b1 |
T |
A |
13: 94,584,971 (GRCm39) |
L394* |
probably null |
Het |
| Cdk2ap1 |
C |
T |
5: 124,486,772 (GRCm39) |
V57M |
probably damaging |
Het |
| Csnk2b |
T |
A |
17: 35,336,992 (GRCm39) |
N65I |
possibly damaging |
Het |
| Dennd4a |
G |
A |
9: 64,801,691 (GRCm39) |
E945K |
probably benign |
Het |
| Eif2b2 |
A |
G |
12: 85,266,608 (GRCm39) |
D59G |
probably benign |
Het |
| Ero1a |
A |
T |
14: 45,525,201 (GRCm39) |
N441K |
probably damaging |
Het |
| Fam91a1 |
A |
G |
15: 58,304,433 (GRCm39) |
D383G |
probably damaging |
Het |
| Fbxl7 |
C |
A |
15: 26,789,649 (GRCm39) |
S26I |
probably damaging |
Het |
| Il20 |
A |
T |
1: 130,838,839 (GRCm39) |
I42K |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,540,790 (GRCm39) |
F1947L |
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 26,983,261 (GRCm39) |
|
probably null |
Het |
| Numb |
G |
T |
12: 83,889,051 (GRCm39) |
H23N |
probably damaging |
Het |
| Or10q3 |
G |
A |
19: 11,848,587 (GRCm39) |
|
probably benign |
Het |
| Or5p79 |
A |
G |
7: 108,221,648 (GRCm39) |
I210V |
probably benign |
Het |
| Ppp1r1b |
C |
T |
11: 98,247,666 (GRCm39) |
T111I |
probably damaging |
Het |
| Rad50 |
G |
A |
11: 53,577,005 (GRCm39) |
Q528* |
probably null |
Het |
| Scara3 |
A |
T |
14: 66,168,412 (GRCm39) |
S402T |
probably benign |
Het |
| Septin3 |
A |
G |
15: 82,168,593 (GRCm39) |
Y132C |
probably damaging |
Het |
| Sim2 |
C |
A |
16: 93,924,341 (GRCm39) |
N495K |
possibly damaging |
Het |
| Slc9b1 |
A |
G |
3: 135,077,743 (GRCm39) |
|
probably null |
Het |
| Tanc2 |
A |
G |
11: 105,667,746 (GRCm39) |
D109G |
probably benign |
Het |
| Tex55 |
A |
C |
16: 38,648,255 (GRCm39) |
S285A |
possibly damaging |
Het |
| Traf1 |
T |
C |
2: 34,833,905 (GRCm39) |
I404V |
probably benign |
Het |
| Vmn2r68 |
C |
A |
7: 84,871,325 (GRCm39) |
V653L |
probably benign |
Het |
|
| Other mutations in Wdr93 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00928:Wdr93
|
APN |
7 |
79,425,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation