Incidental Mutation 'R8450:Wdr27'
| ID |
654734 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr27
|
| Ensembl Gene |
ENSMUSG00000046991 |
| Gene Name |
WD repeat domain 27 |
| Synonyms |
0610012K18Rik |
| MMRRC Submission |
067830-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R8450 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
15038781-15163420 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15152787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 107
(T107A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126736
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170386]
[ENSMUST00000228330]
[ENSMUST00000232147]
|
| AlphaFold |
Q8C5V5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170386
AA Change: T107A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126736
Gene: ENSMUSG00000046991
AA Change: T107A
| 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 benign
Transcript: ENSMUST00000228330
AA Change: T107A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232147
AA Change: T107A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
G |
A |
5: 138,561,188 (GRCm39) |
T158M |
probably benign |
Het |
| Adgrv1 |
T |
A |
13: 81,583,962 (GRCm39) |
|
probably null |
Het |
| Arhgef2 |
G |
A |
3: 88,553,527 (GRCm39) |
R886H |
probably damaging |
Het |
| Armc12 |
T |
A |
17: 28,751,031 (GRCm39) |
D82E |
probably damaging |
Het |
| Atg2a |
T |
C |
19: 6,296,841 (GRCm39) |
S382P |
probably benign |
Het |
| Bola1 |
G |
A |
3: 96,104,573 (GRCm39) |
A7V |
probably benign |
Het |
| Cep170 |
A |
G |
1: 176,564,445 (GRCm39) |
L271S |
|
Het |
| Cers3 |
T |
C |
7: 66,414,090 (GRCm39) |
F92S |
possibly damaging |
Het |
| Chmp4c |
A |
T |
3: 10,450,746 (GRCm39) |
M109L |
possibly damaging |
Het |
| Cnmd |
T |
A |
14: 79,882,821 (GRCm39) |
K202* |
probably null |
Het |
| Cnp |
T |
C |
11: 100,467,267 (GRCm39) |
I70T |
probably damaging |
Het |
| Col27a1 |
C |
A |
4: 63,248,134 (GRCm39) |
T1721K |
unknown |
Het |
| Crtac1 |
G |
A |
19: 42,297,625 (GRCm39) |
R242W |
probably damaging |
Het |
| Cry2 |
T |
C |
2: 92,244,286 (GRCm39) |
R296G |
probably benign |
Het |
| Cyp2t4 |
A |
G |
7: 26,856,806 (GRCm39) |
D282G |
possibly damaging |
Het |
| Dip2a |
G |
T |
10: 76,100,690 (GRCm39) |
T1495N |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,687,147 (GRCm39) |
|
probably null |
Het |
| Dmp1 |
A |
T |
5: 104,360,765 (GRCm39) |
K480N |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 117,977,873 (GRCm39) |
S1820P |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,172,798 (GRCm39) |
V220A |
probably benign |
Het |
| Eif4a3l1 |
C |
T |
6: 136,306,241 (GRCm39) |
T234I |
possibly damaging |
Het |
| Epha3 |
T |
C |
16: 63,472,853 (GRCm39) |
D344G |
possibly damaging |
Het |
| Esyt2 |
C |
A |
12: 116,327,102 (GRCm39) |
Q557K |
probably damaging |
Het |
| Fam72a |
A |
T |
1: 131,461,663 (GRCm39) |
D116V |
probably damaging |
Het |
| Fam81a |
T |
C |
9: 70,032,300 (GRCm39) |
N64S |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,826,435 (GRCm39) |
T358S |
|
Het |
| Frat2 |
A |
T |
19: 41,836,223 (GRCm39) |
I43N |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,226,073 (GRCm39) |
D1863E |
probably benign |
Het |
| Gm29735 |
ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA |
ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA |
7: 141,710,266 (GRCm39) |
|
probably benign |
Het |
| Gm43302 |
A |
T |
5: 105,422,573 (GRCm39) |
|
probably null |
Het |
| Grid2ip |
A |
G |
5: 143,363,273 (GRCm39) |
Y422C |
probably damaging |
Het |
| Hap1 |
T |
G |
11: 100,240,107 (GRCm39) |
D563A |
probably damaging |
Het |
| Hbb-bs |
T |
C |
7: 103,475,951 (GRCm39) |
D122G |
probably benign |
Het |
| Hs3st3b1 |
G |
C |
11: 63,780,390 (GRCm39) |
P246A |
probably benign |
Het |
| Hsd17b4 |
T |
G |
18: 50,297,734 (GRCm39) |
L341R |
probably benign |
Het |
| Kbtbd11 |
G |
A |
8: 15,078,603 (GRCm39) |
V401M |
probably damaging |
Het |
| Lss |
T |
A |
10: 76,371,429 (GRCm39) |
L120Q |
probably damaging |
Het |
| Mdc1 |
T |
G |
17: 36,159,191 (GRCm39) |
S524A |
probably benign |
Het |
| Myoz3 |
T |
C |
18: 60,712,074 (GRCm39) |
Y168C |
probably damaging |
Het |
| Nceh1 |
C |
A |
3: 27,293,813 (GRCm39) |
D190E |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,096,194 (GRCm39) |
R5039G |
probably benign |
Het |
| Nup50 |
T |
A |
15: 84,819,476 (GRCm39) |
V250E |
probably benign |
Het |
| Pcnx3 |
T |
A |
19: 5,723,254 (GRCm39) |
N1314Y |
probably damaging |
Het |
| Pdzk1 |
A |
G |
3: 96,759,024 (GRCm39) |
N143S |
probably benign |
Het |
| Rnf223 |
T |
G |
4: 156,217,120 (GRCm39) |
L165R |
probably damaging |
Het |
| Sbf1 |
A |
T |
15: 89,183,712 (GRCm39) |
F1267Y |
probably damaging |
Het |
| Scrn3 |
T |
G |
2: 73,160,113 (GRCm39) |
I252R |
possibly damaging |
Het |
| Sdr39u1 |
T |
C |
14: 56,135,363 (GRCm39) |
I193M |
probably damaging |
Het |
| Sh2d7 |
A |
G |
9: 54,448,191 (GRCm39) |
R71G |
probably benign |
Het |
| Slc12a9 |
C |
A |
5: 137,313,737 (GRCm39) |
V741L |
probably benign |
Het |
| Syk |
T |
C |
13: 52,774,935 (GRCm39) |
L225P |
probably damaging |
Het |
| Tbx1 |
A |
T |
16: 18,400,795 (GRCm39) |
V463E |
unknown |
Het |
| Tmem67 |
C |
T |
4: 12,087,891 (GRCm39) |
R19H |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,609,108 (GRCm39) |
I17666F |
possibly damaging |
Het |
| Vcpip1 |
A |
G |
1: 9,794,831 (GRCm39) |
V1180A |
probably benign |
Het |
| Vps13a |
C |
T |
19: 16,631,871 (GRCm39) |
|
probably null |
Het |
| Zfp106 |
T |
C |
2: 120,366,099 (GRCm39) |
R58G |
|
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 |
|
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 |
|
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'- AAACCCAGTCTTCTCCATGGTAG -3'
(R):5'- GAATGATCAGCAGTGTCTTCAAG -3'
Sequencing Primer
(F):5'- CTTGTAGGTCACCATCCAGGAAG -3'
(R):5'- CAGCAGTGTCTTCAAGGATTATAATG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation