Incidental Mutation 'IGL01910:Wdr93'
| ID |
179772 |
| 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 # |
IGL01910
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
79392911-79435698 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79421321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 405
(S405P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035622]
|
| AlphaFold |
Q402B2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035622
AA Change: S405P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037467
Gene: ENSMUSG00000039099
AA Change: S405P
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ammecr1l |
A |
G |
18: 31,904,995 (GRCm39) |
M79V |
probably benign |
Het |
| Arhgap5 |
T |
A |
12: 52,563,644 (GRCm39) |
V205E |
probably benign |
Het |
| BC061237 |
T |
C |
14: 44,743,445 (GRCm39) |
|
probably benign |
Het |
| Calr |
T |
A |
8: 85,571,598 (GRCm39) |
|
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,814,096 (GRCm39) |
N1942S |
probably benign |
Het |
| Cfap100 |
T |
C |
6: 90,386,606 (GRCm39) |
D373G |
probably damaging |
Het |
| Chst9 |
C |
A |
18: 15,585,931 (GRCm39) |
A211S |
possibly damaging |
Het |
| Ephb1 |
T |
C |
9: 101,879,056 (GRCm39) |
E478G |
probably benign |
Het |
| Fbrsl1 |
A |
T |
5: 110,511,602 (GRCm39) |
V387D |
probably damaging |
Het |
| Fxyd5 |
T |
C |
7: 30,734,643 (GRCm39) |
I161V |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hmx2 |
C |
T |
7: 131,157,401 (GRCm39) |
R172C |
probably damaging |
Het |
| Itgam |
C |
T |
7: 127,682,948 (GRCm39) |
A320V |
probably damaging |
Het |
| Macrod2 |
T |
A |
2: 142,138,485 (GRCm39) |
N361K |
probably benign |
Het |
| Mbl1 |
T |
C |
14: 40,875,703 (GRCm39) |
|
probably null |
Het |
| Nudt9 |
G |
A |
5: 104,202,175 (GRCm39) |
G79R |
probably damaging |
Het |
| Ppan |
C |
T |
9: 20,802,232 (GRCm39) |
R208C |
probably damaging |
Het |
| Rpl23a-ps1 |
A |
G |
1: 46,020,940 (GRCm39) |
|
noncoding transcript |
Het |
| Slc17a1 |
A |
G |
13: 24,062,440 (GRCm39) |
|
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,081,569 (GRCm39) |
T1269A |
probably benign |
Het |
| Vmn2r16 |
A |
T |
5: 109,487,951 (GRCm39) |
N275Y |
probably damaging |
Het |
| Xcl1 |
T |
A |
1: 164,759,458 (GRCm39) |
I81F |
probably damaging |
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 |
|
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 |
2014-05-07 |
Incidental Mutation