Incidental Mutation 'IGL02552:Wdr27'
| ID |
298125 |
| 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 # |
IGL02552
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
15038781-15163420 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 15146453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 181
(S181P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170386]
[ENSMUST00000228330]
[ENSMUST00000232147]
|
| AlphaFold |
Q8C5V5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170386
AA Change: S181P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126736
Gene: ENSMUSG00000046991
AA Change: S181P
| 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 |
probably damaging
Transcript: ENSMUST00000228330
AA Change: S181P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232147
AA Change: S181P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
G |
3: 124,208,145 (GRCm39) |
L178S |
probably damaging |
Het |
| Abca12 |
A |
G |
1: 71,333,906 (GRCm39) |
Y1199H |
probably damaging |
Het |
| Abcc9 |
T |
C |
6: 142,551,645 (GRCm39) |
D1221G |
possibly damaging |
Het |
| Apc |
T |
A |
18: 34,446,035 (GRCm39) |
M977K |
possibly damaging |
Het |
| Arhgap30 |
T |
A |
1: 171,235,324 (GRCm39) |
L566Q |
probably damaging |
Het |
| Arhgap40 |
T |
A |
2: 158,388,721 (GRCm39) |
W552R |
probably benign |
Het |
| Astn1 |
C |
T |
1: 158,332,965 (GRCm39) |
S349F |
possibly damaging |
Het |
| Bard1 |
T |
C |
1: 71,104,815 (GRCm39) |
|
probably benign |
Het |
| Batf2 |
T |
A |
19: 6,221,537 (GRCm39) |
Y116N |
probably benign |
Het |
| Bltp3b |
T |
A |
10: 89,642,605 (GRCm39) |
L10* |
probably null |
Het |
| Cbx6 |
T |
C |
15: 79,713,094 (GRCm39) |
H111R |
probably damaging |
Het |
| Cd44 |
T |
A |
2: 102,679,076 (GRCm39) |
N242I |
probably benign |
Het |
| Cdnf |
C |
T |
2: 3,525,012 (GRCm39) |
Q184* |
probably null |
Het |
| Chd2 |
C |
A |
7: 73,097,068 (GRCm39) |
|
probably benign |
Het |
| Cmtm6 |
G |
A |
9: 114,566,374 (GRCm39) |
V88M |
probably damaging |
Het |
| Col24a1 |
C |
A |
3: 145,179,962 (GRCm39) |
S1151R |
possibly damaging |
Het |
| Csta2 |
A |
G |
16: 36,073,459 (GRCm39) |
E15G |
probably damaging |
Het |
| Degs1l |
T |
A |
1: 180,882,463 (GRCm39) |
V75E |
possibly damaging |
Het |
| Dnajc2 |
T |
C |
5: 21,988,061 (GRCm39) |
D6G |
probably damaging |
Het |
| Eif3a |
G |
A |
19: 60,751,664 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
C |
A |
2: 125,254,633 (GRCm39) |
C210F |
possibly damaging |
Het |
| Fmn2 |
T |
A |
1: 174,523,286 (GRCm39) |
D1380E |
probably damaging |
Het |
| Fry |
A |
T |
5: 150,304,375 (GRCm39) |
K588N |
probably damaging |
Het |
| Gm18856 |
G |
A |
13: 14,139,805 (GRCm39) |
|
probably benign |
Het |
| Gpr37 |
G |
T |
6: 25,688,686 (GRCm39) |
T137K |
probably benign |
Het |
| Gzmc |
T |
C |
14: 56,472,039 (GRCm39) |
M1V |
probably null |
Het |
| Htr5a |
T |
C |
5: 28,047,958 (GRCm39) |
V171A |
probably benign |
Het |
| Ints6l |
T |
C |
X: 55,500,557 (GRCm39) |
|
probably benign |
Het |
| Kcnma1 |
C |
T |
14: 23,436,327 (GRCm39) |
|
probably null |
Het |
| Krt35 |
C |
T |
11: 99,983,899 (GRCm39) |
G367D |
probably benign |
Het |
| Nlrp1b |
C |
T |
11: 71,063,057 (GRCm39) |
V668I |
possibly damaging |
Het |
| Nlrp1b |
C |
T |
11: 71,072,878 (GRCm39) |
V322I |
possibly damaging |
Het |
| Ntf3 |
T |
C |
6: 126,078,823 (GRCm39) |
N228D |
probably damaging |
Het |
| Nup133 |
G |
A |
8: 124,655,994 (GRCm39) |
R496W |
possibly damaging |
Het |
| Or4c10 |
T |
C |
2: 89,760,903 (GRCm39) |
V250A |
probably benign |
Het |
| Or51i1 |
C |
A |
7: 103,671,463 (GRCm39) |
G21W |
probably damaging |
Het |
| Pah |
C |
T |
10: 87,414,707 (GRCm39) |
|
probably benign |
Het |
| Pan2 |
G |
T |
10: 128,154,896 (GRCm39) |
W1112L |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,970,879 (GRCm39) |
R209Q |
probably damaging |
Het |
| Plaa |
C |
T |
4: 94,470,717 (GRCm39) |
|
probably null |
Het |
| Qprt |
C |
T |
7: 126,708,027 (GRCm39) |
A135T |
probably damaging |
Het |
| Rbbp6 |
T |
G |
7: 122,582,204 (GRCm39) |
S108A |
probably damaging |
Het |
| Smg1 |
T |
A |
7: 117,795,117 (GRCm39) |
|
probably benign |
Het |
| Spink5 |
T |
A |
18: 44,125,235 (GRCm39) |
C368S |
possibly damaging |
Het |
| Sptan1 |
T |
A |
2: 29,908,486 (GRCm39) |
I1734N |
probably damaging |
Het |
| Stk38l |
C |
T |
6: 146,669,031 (GRCm39) |
L170F |
probably damaging |
Het |
| Tesmin |
C |
T |
19: 3,452,483 (GRCm39) |
|
probably benign |
Het |
| Tjp1 |
A |
T |
7: 64,949,530 (GRCm39) |
C1697* |
probably null |
Het |
| Tmco4 |
T |
C |
4: 138,785,690 (GRCm39) |
S587P |
probably benign |
Het |
| Tmem208 |
G |
A |
8: 106,055,329 (GRCm39) |
|
probably null |
Het |
| Trim30d |
T |
C |
7: 104,121,623 (GRCm39) |
Q224R |
probably damaging |
Het |
| Trpm7 |
T |
A |
2: 126,682,699 (GRCm39) |
D390V |
probably damaging |
Het |
| Uba7 |
A |
G |
9: 107,858,589 (GRCm39) |
I807V |
probably benign |
Het |
| Utp18 |
C |
A |
11: 93,759,160 (GRCm39) |
C438F |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,899,707 (GRCm39) |
K191E |
possibly damaging |
Het |
| Zfp462 |
T |
C |
4: 55,010,613 (GRCm39) |
Y860H |
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 |
|
IGL02044:Wdr27
|
APN |
17 |
15,122,031 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
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 |
|
|
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