Incidental Mutation 'IGL02044:Wdr27'
ID |
184881 |
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 # |
IGL02044
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
15038781-15163420 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 15122031 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 625
(Y625C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153717
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170386]
[ENSMUST00000228330]
[ENSMUST00000232147]
|
AlphaFold |
Q8C5V5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170386
AA Change: Y625C
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000126736 Gene: ENSMUSG00000046991 AA Change: Y625C
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 |
possibly damaging
Transcript: ENSMUST00000228330
AA Change: Y625C
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000232147
AA Change: Y625C
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam8 |
T |
C |
7: 139,562,735 (GRCm39) |
D772G |
possibly damaging |
Het |
Atp6v0a2 |
T |
A |
5: 124,783,954 (GRCm39) |
N267K |
probably benign |
Het |
Cx3cl1 |
T |
A |
8: 95,507,168 (GRCm39) |
V391D |
probably damaging |
Het |
Dscaml1 |
C |
T |
9: 45,658,241 (GRCm39) |
R1671* |
probably null |
Het |
Dzip3 |
A |
T |
16: 48,768,790 (GRCm39) |
S443T |
possibly damaging |
Het |
Hrh2 |
A |
T |
13: 54,368,965 (GRCm39) |
T314S |
probably benign |
Het |
Ifi206 |
C |
T |
1: 173,308,557 (GRCm39) |
V480M |
probably benign |
Het |
Krt84 |
A |
G |
15: 101,436,931 (GRCm39) |
Y368H |
probably damaging |
Het |
Lama1 |
T |
C |
17: 68,118,485 (GRCm39) |
S2566P |
probably benign |
Het |
Lyst |
T |
A |
13: 13,887,431 (GRCm39) |
F3087I |
probably damaging |
Het |
Map3k19 |
A |
T |
1: 127,751,242 (GRCm39) |
L703H |
probably damaging |
Het |
Or8c9 |
A |
G |
9: 38,241,461 (GRCm39) |
S193G |
probably benign |
Het |
Or8g50 |
C |
T |
9: 39,648,270 (GRCm39) |
S53L |
possibly damaging |
Het |
Pard6a |
A |
G |
8: 106,429,651 (GRCm39) |
D203G |
probably damaging |
Het |
Pate7 |
T |
C |
9: 35,687,959 (GRCm39) |
K94E |
probably benign |
Het |
Pde8a |
T |
C |
7: 80,967,197 (GRCm39) |
|
probably null |
Het |
Pdia6 |
C |
A |
12: 17,333,227 (GRCm39) |
T400K |
probably damaging |
Het |
Pdzd8 |
A |
T |
19: 59,303,724 (GRCm39) |
V354D |
possibly damaging |
Het |
Sec13 |
A |
G |
6: 113,713,381 (GRCm39) |
I39T |
probably damaging |
Het |
Smyd3 |
C |
T |
1: 178,799,844 (GRCm39) |
S365N |
probably benign |
Het |
Sorcs1 |
A |
G |
19: 50,276,597 (GRCm39) |
|
probably benign |
Het |
Tjp2 |
T |
G |
19: 24,098,204 (GRCm39) |
Y486S |
probably damaging |
Het |
Tlr13 |
T |
C |
X: 105,200,703 (GRCm39) |
F147L |
probably damaging |
Het |
Ulk2 |
T |
A |
11: 61,672,465 (GRCm39) |
N958Y |
probably damaging |
Het |
Unk |
T |
A |
11: 115,940,154 (GRCm39) |
M169K |
probably damaging |
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 |
IGL02198:Wdr27
|
APN |
17 |
15,128,860 (GRCm39) |
missense |
possibly damaging |
0.52 |
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 |
2014-05-07 |