Incidental Mutation 'IGL02198:Wdr27'
| ID |
284126 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wdr27
|
| Ensembl Gene |
ENSMUSG00000046991 |
| Gene Name |
WD repeat domain 27 |
| Synonyms |
0610012K18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.170)
|
| Stock # |
IGL02198
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
15038781-15163420 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 15128860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 531
(G531V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170386]
[ENSMUST00000228330]
[ENSMUST00000232147]
|
| AlphaFold |
Q8C5V5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170386
AA Change: G531V
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000126736
Gene: ENSMUSG00000046991
AA Change: G531V
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
59 |
99 |
4.79e-1 |
SMART |
|
WD40
|
114 |
149 |
6.36e1 |
SMART |
|
WD40
|
152 |
192 |
3.93e-7 |
SMART |
|
WD40
|
195 |
235 |
2.38e1 |
SMART |
|
low complexity region
|
473 |
492 |
N/A |
INTRINSIC |
|
WD40
|
498 |
539 |
1.48e1 |
SMART |
|
WD40
|
542 |
581 |
5.26e-8 |
SMART |
|
WD40
|
642 |
684 |
2.97e0 |
SMART |
|
WD40
|
687 |
737 |
7.64e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228233
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228330
AA Change: G531V
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000232147
AA Change: G531V
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with multiple WD repeats. Proteins with these repeats may form scaffolds for protein-protein interaction and play key roles in cell signalling. Alternative splicing results in multiple transcript variants, but the full-length structure of some of these variants cannot be determined. [provided by RefSeq, Nov 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adra1d |
A |
G |
2: 131,388,412 (GRCm39) |
I381T |
probably damaging |
Het |
| Armt1 |
T |
A |
10: 4,404,064 (GRCm39) |
F383Y |
possibly damaging |
Het |
| Cdca2 |
A |
G |
14: 67,932,445 (GRCm39) |
V486A |
probably benign |
Het |
| Cep78 |
A |
G |
19: 15,933,733 (GRCm39) |
L615S |
probably damaging |
Het |
| Clec2h |
C |
A |
6: 128,650,979 (GRCm39) |
C86* |
probably null |
Het |
| Cntnap5a |
C |
T |
1: 116,508,262 (GRCm39) |
T1258I |
probably benign |
Het |
| Dhrs7c |
T |
A |
11: 67,706,628 (GRCm39) |
M262K |
possibly damaging |
Het |
| Dmpk |
C |
A |
7: 18,822,117 (GRCm39) |
F332L |
probably damaging |
Het |
| Dnaaf4 |
G |
A |
9: 72,876,348 (GRCm39) |
V308I |
probably benign |
Het |
| Fap |
A |
G |
2: 62,385,142 (GRCm39) |
F73L |
probably benign |
Het |
| Igsf10 |
A |
T |
3: 59,233,399 (GRCm39) |
I1778N |
possibly damaging |
Het |
| Il6ra |
T |
C |
3: 89,797,655 (GRCm39) |
T71A |
probably benign |
Het |
| Itpr2 |
C |
A |
6: 146,224,725 (GRCm39) |
A1389S |
probably damaging |
Het |
| Mob3b |
T |
C |
4: 35,083,983 (GRCm39) |
N69D |
probably damaging |
Het |
| Nr1h3 |
A |
G |
2: 91,023,070 (GRCm39) |
W21R |
probably damaging |
Het |
| Or4f56 |
A |
T |
2: 111,703,593 (GRCm39) |
N202K |
probably damaging |
Het |
| Ovca2 |
A |
G |
11: 75,069,596 (GRCm39) |
V9A |
possibly damaging |
Het |
| Ovch2 |
T |
A |
7: 107,394,041 (GRCm39) |
K137N |
probably damaging |
Het |
| Pabpc1l |
A |
G |
2: 163,869,536 (GRCm39) |
N112S |
probably damaging |
Het |
| Plekho1 |
T |
A |
3: 95,899,496 (GRCm39) |
N99I |
probably damaging |
Het |
| Recql5 |
A |
C |
11: 115,785,499 (GRCm39) |
S666A |
probably benign |
Het |
| Scn3a |
G |
T |
2: 65,338,833 (GRCm39) |
H615Q |
probably benign |
Het |
| Sel1l3 |
A |
G |
5: 53,297,141 (GRCm39) |
|
probably benign |
Het |
| Slc38a2 |
A |
T |
15: 96,590,258 (GRCm39) |
S328T |
probably damaging |
Het |
| Taok1 |
T |
C |
11: 77,466,503 (GRCm39) |
|
probably benign |
Het |
| Tsnax |
T |
A |
8: 125,759,451 (GRCm39) |
Y237* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,544,974 (GRCm39) |
K24382N |
probably damaging |
Het |
| Ugt1a9 |
T |
A |
1: 87,999,165 (GRCm39) |
V205E |
possibly damaging |
Het |
| Unc80 |
C |
A |
1: 66,569,145 (GRCm39) |
D933E |
possibly damaging |
Het |
| Vnn1 |
A |
T |
10: 23,779,323 (GRCm39) |
T411S |
probably benign |
Het |
| Zfp760 |
G |
T |
17: 21,941,193 (GRCm39) |
V123L |
probably benign |
Het |
|
| Other mutations in Wdr27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Wdr27
|
APN |
17 |
15,148,572 (GRCm39) |
nonsense |
probably null |
|
|
IGL00973:Wdr27
|
APN |
17 |
15,134,140 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01012:Wdr27
|
APN |
17 |
15,146,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01924:Wdr27
|
APN |
17 |
15,137,488 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02044:Wdr27
|
APN |
17 |
15,122,031 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02430:Wdr27
|
APN |
17 |
15,122,062 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02496:Wdr27
|
APN |
17 |
15,112,693 (GRCm39) |
splice site |
probably benign |
|
|
IGL02552:Wdr27
|
APN |
17 |
15,146,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02590:Wdr27
|
APN |
17 |
15,138,041 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02892:Wdr27
|
APN |
17 |
15,096,438 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02957:Wdr27
|
APN |
17 |
15,130,372 (GRCm39) |
splice site |
probably benign |
|
|
IGL03295:Wdr27
|
APN |
17 |
15,154,837 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
PIT4498001:Wdr27
|
UTSW |
17 |
15,154,831 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0329:Wdr27
|
UTSW |
17 |
15,154,721 (GRCm39) |
splice site |
probably benign |
|
|
R0671:Wdr27
|
UTSW |
17 |
15,148,658 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1166:Wdr27
|
UTSW |
17 |
15,112,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1308:Wdr27
|
UTSW |
17 |
15,148,646 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1652:Wdr27
|
UTSW |
17 |
15,137,532 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1771:Wdr27
|
UTSW |
17 |
15,112,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1966:Wdr27
|
UTSW |
17 |
15,154,861 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2106:Wdr27
|
UTSW |
17 |
15,141,116 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2131:Wdr27
|
UTSW |
17 |
15,148,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3803:Wdr27
|
UTSW |
17 |
15,138,371 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4335:Wdr27
|
UTSW |
17 |
15,141,018 (GRCm39) |
splice site |
probably null |
|
|
R4577:Wdr27
|
UTSW |
17 |
15,123,724 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4787:Wdr27
|
UTSW |
17 |
15,152,816 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4853:Wdr27
|
UTSW |
17 |
15,137,475 (GRCm39) |
splice site |
probably null |
|
|
R4922:Wdr27
|
UTSW |
17 |
15,141,016 (GRCm39) |
splice site |
probably null |
|
|
R4951:Wdr27
|
UTSW |
17 |
15,096,395 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5784:Wdr27
|
UTSW |
17 |
15,146,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5809:Wdr27
|
UTSW |
17 |
15,103,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6128:Wdr27
|
UTSW |
17 |
15,152,796 (GRCm39) |
nonsense |
probably null |
|
|
R6584:Wdr27
|
UTSW |
17 |
15,122,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6705:Wdr27
|
UTSW |
17 |
15,154,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7511:Wdr27
|
UTSW |
17 |
15,103,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8273:Wdr27
|
UTSW |
17 |
15,049,838 (GRCm39) |
missense |
probably benign |
|
|
R8350:Wdr27
|
UTSW |
17 |
15,152,787 (GRCm39) |
missense |
probably benign |
|
|
R8353:Wdr27
|
UTSW |
17 |
15,112,751 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8450:Wdr27
|
UTSW |
17 |
15,152,787 (GRCm39) |
missense |
probably benign |
|
|
R8453:Wdr27
|
UTSW |
17 |
15,112,751 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8535:Wdr27
|
UTSW |
17 |
15,123,799 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8735:Wdr27
|
UTSW |
17 |
15,103,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8960:Wdr27
|
UTSW |
17 |
15,103,908 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9120:Wdr27
|
UTSW |
17 |
15,152,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9183:Wdr27
|
UTSW |
17 |
15,148,651 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9351:Wdr27
|
UTSW |
17 |
15,128,833 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9373:Wdr27
|
UTSW |
17 |
15,154,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9389:Wdr27
|
UTSW |
17 |
15,111,980 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Posted On |
2015-04-16 |
Incidental Mutation