Incidental Mutation 'IGL02973:Wdr89'
| ID |
365882 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wdr89
|
| Ensembl Gene |
ENSMUSG00000045690 |
| Gene Name |
WD repeat domain 89 |
| Synonyms |
2600001A11Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02973
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
75677370-75716311 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 75679873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 127
(D127A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062370]
[ENSMUST00000187307]
|
| AlphaFold |
Q9D0R9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062370
AA Change: D127A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000050532
Gene: ENSMUSG00000045690
AA Change: D127A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
20 |
56 |
3.82e1 |
SMART |
|
WD40
|
59 |
98 |
1.85e-3 |
SMART |
|
WD40
|
103 |
147 |
2.64e2 |
SMART |
|
WD40
|
157 |
198 |
6.38e-7 |
SMART |
|
WD40
|
205 |
244 |
1.1e2 |
SMART |
|
WD40
|
308 |
348 |
1.82e-2 |
SMART |
|
low complexity region
|
366 |
379 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185426
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187307
AA Change: D127A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140172
Gene: ENSMUSG00000045690
AA Change: D127A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
20 |
56 |
3.82e1 |
SMART |
|
WD40
|
59 |
98 |
1.85e-3 |
SMART |
|
WD40
|
103 |
147 |
2.64e2 |
SMART |
|
WD40
|
157 |
198 |
6.38e-7 |
SMART |
|
WD40
|
205 |
244 |
1.1e2 |
SMART |
|
WD40
|
308 |
348 |
1.82e-2 |
SMART |
|
low complexity region
|
366 |
379 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191005
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit normal blood lymphocyte populations. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ada |
A |
G |
2: 163,573,053 (GRCm39) |
L193P |
probably benign |
Het |
| Ago2 |
A |
T |
15: 72,995,314 (GRCm39) |
|
probably benign |
Het |
| Ankrd26 |
A |
G |
6: 118,500,511 (GRCm39) |
S987P |
probably damaging |
Het |
| Ap2a2 |
T |
C |
7: 141,211,277 (GRCm39) |
F938L |
possibly damaging |
Het |
| Arhgap35 |
A |
G |
7: 16,296,803 (GRCm39) |
V754A |
possibly damaging |
Het |
| Atp10b |
A |
T |
11: 43,088,336 (GRCm39) |
N314I |
probably damaging |
Het |
| Atp5f1a |
T |
C |
18: 77,867,849 (GRCm39) |
V291A |
probably damaging |
Het |
| Ccm2 |
C |
A |
11: 6,534,544 (GRCm39) |
P19T |
probably damaging |
Het |
| Cdc5l |
C |
A |
17: 45,715,573 (GRCm39) |
A680S |
probably benign |
Het |
| Cds1 |
A |
G |
5: 101,960,376 (GRCm39) |
T276A |
probably damaging |
Het |
| Cit |
A |
G |
5: 116,144,058 (GRCm39) |
R1976G |
possibly damaging |
Het |
| Col6a5 |
T |
C |
9: 105,803,020 (GRCm39) |
D1315G |
unknown |
Het |
| Emilin1 |
T |
G |
5: 31,078,007 (GRCm39) |
L922R |
probably damaging |
Het |
| Fank1 |
T |
C |
7: 133,478,578 (GRCm39) |
L213P |
probably damaging |
Het |
| Foxc2 |
T |
C |
8: 121,844,788 (GRCm39) |
S479P |
probably benign |
Het |
| Golgb1 |
G |
A |
16: 36,732,442 (GRCm39) |
R563H |
possibly damaging |
Het |
| Hoxb13 |
A |
G |
11: 96,085,669 (GRCm39) |
Y134C |
probably damaging |
Het |
| Krtap4-16 |
A |
T |
11: 99,742,167 (GRCm39) |
C78S |
possibly damaging |
Het |
| Lars1 |
C |
T |
18: 42,347,824 (GRCm39) |
|
probably null |
Het |
| Lipe |
T |
C |
7: 25,083,057 (GRCm39) |
N740S |
probably damaging |
Het |
| Mbd1 |
C |
T |
18: 74,408,498 (GRCm39) |
|
probably benign |
Het |
| Mbd5 |
A |
G |
2: 49,203,721 (GRCm39) |
D1700G |
probably damaging |
Het |
| Mpp7 |
A |
G |
18: 7,403,297 (GRCm39) |
Y338H |
probably damaging |
Het |
| Pdgfrl |
A |
G |
8: 41,438,631 (GRCm39) |
D189G |
probably damaging |
Het |
| Pira12 |
T |
C |
7: 3,900,239 (GRCm39) |
Y121C |
probably damaging |
Het |
| Plxnc1 |
T |
C |
10: 94,646,546 (GRCm39) |
N1293S |
probably damaging |
Het |
| Ppm1e |
C |
A |
11: 87,131,488 (GRCm39) |
A302S |
probably damaging |
Het |
| Rassf8 |
A |
G |
6: 145,762,916 (GRCm39) |
|
probably benign |
Het |
| Rttn |
T |
C |
18: 88,990,618 (GRCm39) |
W52R |
probably damaging |
Het |
| Skint8 |
T |
C |
4: 111,796,790 (GRCm39) |
V298A |
probably benign |
Het |
| Tulp1 |
A |
T |
17: 28,577,516 (GRCm39) |
|
probably benign |
Het |
| Unc5c |
T |
A |
3: 141,494,651 (GRCm39) |
D321E |
probably benign |
Het |
| Usp16 |
G |
A |
16: 87,276,627 (GRCm39) |
C654Y |
probably damaging |
Het |
| Vwce |
G |
A |
19: 10,632,764 (GRCm39) |
W575* |
probably null |
Het |
| Zc3h6 |
G |
A |
2: 128,839,715 (GRCm39) |
R176Q |
probably damaging |
Het |
| Zfp942 |
A |
G |
17: 22,151,972 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Wdr89 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00837:Wdr89
|
APN |
12 |
75,679,825 (GRCm39) |
nonsense |
probably null |
|
|
IGL02176:Wdr89
|
APN |
12 |
75,679,897 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02472:Wdr89
|
APN |
12 |
75,679,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0003:Wdr89
|
UTSW |
12 |
75,679,367 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2060:Wdr89
|
UTSW |
12 |
75,679,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4494:Wdr89
|
UTSW |
12 |
75,679,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5120:Wdr89
|
UTSW |
12 |
75,679,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5195:Wdr89
|
UTSW |
12 |
75,680,062 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6572:Wdr89
|
UTSW |
12 |
75,680,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7487:Wdr89
|
UTSW |
12 |
75,679,388 (GRCm39) |
missense |
probably benign |
|
|
R7835:Wdr89
|
UTSW |
12 |
75,679,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8445:Wdr89
|
UTSW |
12 |
75,679,636 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8765:Wdr89
|
UTSW |
12 |
75,679,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9202:Wdr89
|
UTSW |
12 |
75,679,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9269:Wdr89
|
UTSW |
12 |
75,679,564 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9340:Wdr89
|
UTSW |
12 |
75,679,937 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9522:Wdr89
|
UTSW |
12 |
75,679,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9557:Wdr89
|
UTSW |
12 |
75,679,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9760:Wdr89
|
UTSW |
12 |
75,680,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0023:Wdr89
|
UTSW |
12 |
75,679,951 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation