Incidental Mutation 'R5784:Wdr27'
| ID |
447937 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr27
|
| Ensembl Gene |
ENSMUSG00000046991 |
| Gene Name |
WD repeat domain 27 |
| Synonyms |
0610012K18Rik |
| MMRRC Submission |
043381-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.170)
|
| Stock # |
R5784 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
15038781-15163420 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 15146495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 167
(T167S)
|
| 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: T167S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126736
Gene: ENSMUSG00000046991
AA Change: T167S
| 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: T167S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232147
AA Change: T167S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.7571 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (51/52) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
C |
10: 78,903,441 (GRCm39) |
R292G |
possibly damaging |
Het |
| 4932416K20Rik |
T |
A |
8: 105,524,261 (GRCm39) |
|
noncoding transcript |
Het |
| Aox3 |
A |
G |
1: 58,192,658 (GRCm39) |
D544G |
probably benign |
Het |
| Atg2a |
C |
A |
19: 6,311,535 (GRCm39) |
A1830D |
probably damaging |
Het |
| Casp1 |
T |
C |
9: 5,299,337 (GRCm39) |
I22T |
probably damaging |
Het |
| Ccdc141 |
A |
C |
2: 76,859,671 (GRCm39) |
L990W |
probably damaging |
Het |
| Cnbd2 |
A |
G |
2: 156,180,577 (GRCm39) |
T125A |
probably damaging |
Het |
| Cnep1r1 |
T |
A |
8: 88,857,354 (GRCm39) |
|
probably benign |
Het |
| Dhx38 |
G |
T |
8: 110,286,245 (GRCm39) |
Y348* |
probably null |
Het |
| Dnah7c |
A |
T |
1: 46,563,228 (GRCm39) |
I593L |
possibly damaging |
Het |
| Dpep3 |
T |
C |
8: 106,705,375 (GRCm39) |
D125G |
probably benign |
Het |
| Eif1ad10 |
T |
A |
12: 88,216,525 (GRCm39) |
N116Y |
probably damaging |
Het |
| Epb41l4b |
A |
C |
4: 57,086,003 (GRCm39) |
S191A |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,811,016 (GRCm39) |
Y1033C |
possibly damaging |
Het |
| Fam193a |
T |
C |
5: 34,623,567 (GRCm39) |
L32P |
probably damaging |
Het |
| Grin2c |
T |
C |
11: 115,149,121 (GRCm39) |
E159G |
possibly damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Hdhd2 |
A |
T |
18: 77,054,841 (GRCm39) |
D205V |
probably damaging |
Het |
| Helz |
T |
A |
11: 107,561,307 (GRCm39) |
N774K |
unknown |
Het |
| Idh3b |
A |
G |
2: 130,121,591 (GRCm39) |
V71A |
probably damaging |
Het |
| Lars1 |
T |
C |
18: 42,352,964 (GRCm39) |
M818V |
probably benign |
Het |
| Ltbp2 |
A |
G |
12: 84,915,513 (GRCm39) |
V162A |
probably damaging |
Het |
| Ltk |
G |
A |
2: 119,584,840 (GRCm39) |
Q136* |
probably null |
Het |
| Mafb |
A |
T |
2: 160,208,461 (GRCm39) |
C46S |
probably damaging |
Het |
| Map1s |
T |
C |
8: 71,367,002 (GRCm39) |
S636P |
probably damaging |
Het |
| Map3k13 |
A |
G |
16: 21,717,391 (GRCm39) |
K209E |
possibly damaging |
Het |
| Mppe1 |
T |
C |
18: 67,361,098 (GRCm39) |
N220D |
probably benign |
Het |
| Mydgf |
T |
C |
17: 56,485,254 (GRCm39) |
|
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,190,521 (GRCm39) |
K999E |
possibly damaging |
Het |
| Nemp1 |
T |
A |
10: 127,513,067 (GRCm39) |
V34D |
possibly damaging |
Het |
| Npr2 |
A |
G |
4: 43,632,801 (GRCm39) |
E206G |
probably benign |
Het |
| Or10x4 |
G |
A |
1: 174,218,965 (GRCm39) |
C110Y |
probably damaging |
Het |
| Or13g1 |
T |
C |
7: 85,955,743 (GRCm39) |
N193D |
probably damaging |
Het |
| Or9q2 |
A |
T |
19: 13,772,710 (GRCm39) |
H88Q |
probably benign |
Het |
| Papln |
A |
G |
12: 83,828,754 (GRCm39) |
N820S |
probably benign |
Het |
| Pcdh10 |
T |
G |
3: 45,335,075 (GRCm39) |
F463C |
probably damaging |
Het |
| Pde7a |
A |
G |
3: 19,319,009 (GRCm39) |
V12A |
probably benign |
Het |
| Radil |
G |
T |
5: 142,473,268 (GRCm39) |
H804Q |
possibly damaging |
Het |
| Rbfox1 |
A |
T |
16: 7,042,203 (GRCm39) |
D39V |
probably damaging |
Het |
| Rims2 |
T |
G |
15: 39,399,383 (GRCm39) |
|
probably null |
Het |
| Rnf121 |
A |
G |
7: 101,684,583 (GRCm39) |
F110S |
probably benign |
Het |
| Saxo2 |
C |
T |
7: 82,284,082 (GRCm39) |
V259I |
probably benign |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc2a3 |
A |
T |
6: 122,712,376 (GRCm39) |
|
probably null |
Het |
| Traf2 |
A |
T |
2: 25,429,049 (GRCm39) |
V6E |
probably benign |
Het |
| Trim43c |
A |
T |
9: 88,729,696 (GRCm39) |
N379I |
probably benign |
Het |
| Ubr4 |
C |
G |
4: 139,152,529 (GRCm39) |
C1973W |
probably damaging |
Het |
| Unc13a |
G |
T |
8: 72,108,310 (GRCm39) |
D514E |
possibly damaging |
Het |
| Zfp174 |
A |
T |
16: 3,672,438 (GRCm39) |
E329V |
probably benign |
Het |
| Zfp422 |
A |
T |
6: 116,603,771 (GRCm39) |
I76N |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCGGGTGCATGCTTT -3'
(R):5'- AGAGTTATGTATGTTTGTGCACATAT -3'
Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- CATGTGAGTCCCAGTGTCTGAAC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation