Incidental Mutation 'R0530:Wdr26'
| ID |
49086 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr26
|
| Ensembl Gene |
ENSMUSG00000038733 |
| Gene Name |
WD repeat domain 26 |
| Synonyms |
Gid7, 1600024A01Rik |
| MMRRC Submission |
038722-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
R0530 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
181000793-181039566 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 181013635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124186
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162819]
[ENSMUST00000162819]
[ENSMUST00000162963]
[ENSMUST00000162963]
|
| AlphaFold |
Q8C6G8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036329
|
| SMART Domains |
Protein: ENSMUSP00000045177
Gene: ENSMUSG00000038733
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
70 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
83 |
N/A |
INTRINSIC |
|
LisH
|
100 |
132 |
9.73e-1 |
SMART |
|
Blast:CTLH
|
133 |
183 |
6e-28 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036329
|
| SMART Domains |
Protein: ENSMUSP00000045177
Gene: ENSMUSG00000038733
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
70 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
83 |
N/A |
INTRINSIC |
|
LisH
|
100 |
132 |
9.73e-1 |
SMART |
|
Blast:CTLH
|
133 |
183 |
6e-28 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159290
|
| SMART Domains |
Protein: ENSMUSP00000123863
Gene: ENSMUSG00000038733
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
14 |
56 |
2.77e-1 |
SMART |
|
WD40
|
59 |
99 |
3.83e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159625
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159673
|
| SMART Domains |
Protein: ENSMUSP00000125023
Gene: ENSMUSG00000038733
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
2 |
38 |
4e-12 |
BLAST |
|
WD40
|
41 |
83 |
2.77e-1 |
SMART |
|
WD40
|
86 |
126 |
3.83e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159698
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162819
|
| SMART Domains |
Protein: ENSMUSP00000124592
Gene: ENSMUSG00000038733
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
86 |
N/A |
INTRINSIC |
|
LisH
|
103 |
135 |
9.73e-1 |
SMART |
|
CTLH
|
136 |
211 |
2.41e-5 |
SMART |
|
low complexity region
|
276 |
287 |
N/A |
INTRINSIC |
|
WD40
|
324 |
363 |
4.76e-6 |
SMART |
|
WD40
|
370 |
411 |
1.35e-5 |
SMART |
|
WD40
|
414 |
454 |
2.12e-3 |
SMART |
|
WD40
|
537 |
579 |
2.77e-1 |
SMART |
|
WD40
|
582 |
622 |
3.83e-10 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162819
|
| SMART Domains |
Protein: ENSMUSP00000124592
Gene: ENSMUSG00000038733
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
86 |
N/A |
INTRINSIC |
|
LisH
|
103 |
135 |
9.73e-1 |
SMART |
|
CTLH
|
136 |
211 |
2.41e-5 |
SMART |
|
low complexity region
|
276 |
287 |
N/A |
INTRINSIC |
|
WD40
|
324 |
363 |
4.76e-6 |
SMART |
|
WD40
|
370 |
411 |
1.35e-5 |
SMART |
|
WD40
|
414 |
454 |
2.12e-3 |
SMART |
|
WD40
|
537 |
579 |
2.77e-1 |
SMART |
|
WD40
|
582 |
622 |
3.83e-10 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162963
|
| SMART Domains |
Protein: ENSMUSP00000124186
Gene: ENSMUSG00000038733
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
86 |
N/A |
INTRINSIC |
|
LisH
|
103 |
135 |
9.73e-1 |
SMART |
|
CTLH
|
136 |
195 |
4.97e-7 |
SMART |
|
low complexity region
|
260 |
271 |
N/A |
INTRINSIC |
|
WD40
|
308 |
347 |
4.76e-6 |
SMART |
|
WD40
|
354 |
395 |
1.35e-5 |
SMART |
|
WD40
|
398 |
438 |
2.12e-3 |
SMART |
|
WD40
|
521 |
563 |
2.77e-1 |
SMART |
|
WD40
|
566 |
606 |
3.83e-10 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162963
|
| SMART Domains |
Protein: ENSMUSP00000124186
Gene: ENSMUSG00000038733
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
86 |
N/A |
INTRINSIC |
|
LisH
|
103 |
135 |
9.73e-1 |
SMART |
|
CTLH
|
136 |
195 |
4.97e-7 |
SMART |
|
low complexity region
|
260 |
271 |
N/A |
INTRINSIC |
|
WD40
|
308 |
347 |
4.76e-6 |
SMART |
|
WD40
|
354 |
395 |
1.35e-5 |
SMART |
|
WD40
|
398 |
438 |
2.12e-3 |
SMART |
|
WD40
|
521 |
563 |
2.77e-1 |
SMART |
|
WD40
|
566 |
606 |
3.83e-10 |
SMART |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
96% (51/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
A |
G |
5: 105,083,920 (GRCm39) |
W617R |
probably damaging |
Het |
| Adam34l |
A |
T |
8: 44,079,568 (GRCm39) |
C219S |
probably benign |
Het |
| Cep83 |
A |
T |
10: 94,555,450 (GRCm39) |
|
probably benign |
Het |
| Ces1e |
G |
A |
8: 93,946,149 (GRCm39) |
|
probably benign |
Het |
| Ckap2 |
A |
G |
8: 22,665,988 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
C |
A |
5: 123,778,594 (GRCm39) |
R443L |
probably damaging |
Het |
| Clmp |
A |
G |
9: 40,672,302 (GRCm39) |
D44G |
probably benign |
Het |
| Cntnap2 |
G |
A |
6: 46,506,839 (GRCm39) |
Q304* |
probably null |
Het |
| Cst7 |
A |
T |
2: 150,412,435 (GRCm39) |
|
probably benign |
Het |
| Dclk3 |
A |
T |
9: 111,311,789 (GRCm39) |
Y677F |
probably damaging |
Het |
| Dlat |
G |
T |
9: 50,548,869 (GRCm39) |
N562K |
probably damaging |
Het |
| Elmod1 |
A |
T |
9: 53,833,260 (GRCm39) |
Y182N |
probably damaging |
Het |
| Fzd10 |
T |
C |
5: 128,679,077 (GRCm39) |
F266L |
probably damaging |
Het |
| Gm8258 |
A |
G |
5: 104,923,952 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9742 |
T |
A |
13: 8,080,041 (GRCm39) |
|
noncoding transcript |
Het |
| Hdlbp |
T |
C |
1: 93,358,039 (GRCm39) |
|
probably benign |
Het |
| Itga8 |
A |
G |
2: 12,196,627 (GRCm39) |
S597P |
probably damaging |
Het |
| Kndc1 |
A |
T |
7: 139,481,153 (GRCm39) |
I80F |
probably damaging |
Het |
| Ktn1 |
A |
G |
14: 47,970,700 (GRCm39) |
N1192S |
probably benign |
Het |
| Ldha |
G |
A |
7: 46,503,417 (GRCm39) |
V270M |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,931,891 (GRCm39) |
|
probably benign |
Het |
| Map3k9 |
A |
T |
12: 81,769,256 (GRCm39) |
F954I |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,963,877 (GRCm39) |
N823S |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,419,895 (GRCm39) |
N2480K |
probably damaging |
Het |
| Nat1 |
A |
G |
8: 67,943,977 (GRCm39) |
K121E |
probably benign |
Het |
| Neurl1b |
T |
A |
17: 26,660,519 (GRCm39) |
|
probably null |
Het |
| Nnt |
C |
A |
13: 119,531,257 (GRCm39) |
L163F |
probably damaging |
Het |
| Or10v5 |
A |
G |
19: 11,805,556 (GRCm39) |
V278A |
probably benign |
Het |
| Otog |
A |
G |
7: 45,947,668 (GRCm39) |
T2274A |
probably damaging |
Het |
| Pde4b |
G |
A |
4: 102,459,848 (GRCm39) |
R561Q |
probably damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,269,264 (GRCm39) |
F453L |
probably damaging |
Het |
| Pms1 |
T |
C |
1: 53,235,972 (GRCm39) |
|
probably null |
Het |
| Pot1a |
A |
G |
6: 25,771,540 (GRCm39) |
V227A |
possibly damaging |
Het |
| Prdx6b |
A |
G |
2: 80,123,659 (GRCm39) |
N156S |
probably damaging |
Het |
| Ptpn9 |
A |
G |
9: 56,968,417 (GRCm39) |
S586G |
probably benign |
Het |
| Serpina6 |
A |
T |
12: 103,618,053 (GRCm39) |
N253K |
probably damaging |
Het |
| Slc12a2 |
T |
A |
18: 58,052,608 (GRCm39) |
V809D |
possibly damaging |
Het |
| Slc2a8 |
C |
T |
2: 32,863,696 (GRCm39) |
A449T |
probably benign |
Het |
| Slc6a6 |
A |
G |
6: 91,701,939 (GRCm39) |
I116V |
probably null |
Het |
| Synj2 |
T |
A |
17: 6,058,380 (GRCm39) |
S58R |
possibly damaging |
Het |
| Tafa3 |
T |
C |
3: 104,679,487 (GRCm39) |
|
probably benign |
Het |
| Tktl2 |
T |
C |
8: 66,965,831 (GRCm39) |
V463A |
probably damaging |
Het |
| Uchl5 |
T |
C |
1: 143,670,082 (GRCm39) |
V105A |
possibly damaging |
Het |
| Usp9y |
T |
C |
Y: 1,333,600 (GRCm39) |
|
probably benign |
Het |
| Vmn1r200 |
T |
C |
13: 22,579,667 (GRCm39) |
S148P |
probably damaging |
Het |
| Vmn2r50 |
A |
T |
7: 9,781,644 (GRCm39) |
M367K |
possibly damaging |
Het |
| Vps13a |
T |
C |
19: 16,632,570 (GRCm39) |
|
probably benign |
Het |
| Wdr87-ps |
A |
G |
7: 29,229,545 (GRCm39) |
|
noncoding transcript |
Het |
| Ythdc2 |
T |
A |
18: 44,983,465 (GRCm39) |
M544K |
probably damaging |
Het |
| Zpld2 |
A |
G |
4: 133,930,221 (GRCm39) |
I28T |
probably benign |
Het |
|
| Other mutations in Wdr26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01625:Wdr26
|
APN |
1 |
181,019,381 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01941:Wdr26
|
APN |
1 |
181,038,635 (GRCm39) |
splice site |
probably benign |
|
|
IGL02612:Wdr26
|
APN |
1 |
181,005,361 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02660:Wdr26
|
APN |
1 |
181,026,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02685:Wdr26
|
APN |
1 |
181,011,345 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02884:Wdr26
|
APN |
1 |
181,010,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0396:Wdr26
|
UTSW |
1 |
181,008,216 (GRCm39) |
intron |
probably benign |
|
|
R0453:Wdr26
|
UTSW |
1 |
181,010,444 (GRCm39) |
nonsense |
probably null |
|
|
R0729:Wdr26
|
UTSW |
1 |
181,013,470 (GRCm39) |
splice site |
probably null |
|
|
R1170:Wdr26
|
UTSW |
1 |
181,008,859 (GRCm39) |
splice site |
probably benign |
|
|
R1466:Wdr26
|
UTSW |
1 |
181,013,499 (GRCm39) |
splice site |
probably benign |
|
|
R1830:Wdr26
|
UTSW |
1 |
181,019,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2883:Wdr26
|
UTSW |
1 |
181,038,685 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4090:Wdr26
|
UTSW |
1 |
181,030,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4097:Wdr26
|
UTSW |
1 |
181,010,352 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4953:Wdr26
|
UTSW |
1 |
181,025,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5223:Wdr26
|
UTSW |
1 |
181,015,251 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5834:Wdr26
|
UTSW |
1 |
181,030,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5884:Wdr26
|
UTSW |
1 |
181,015,106 (GRCm39) |
intron |
probably benign |
|
|
R6174:Wdr26
|
UTSW |
1 |
181,019,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6334:Wdr26
|
UTSW |
1 |
181,030,771 (GRCm39) |
|
|
|
|
R7161:Wdr26
|
UTSW |
1 |
181,030,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7255:Wdr26
|
UTSW |
1 |
181,008,889 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7406:Wdr26
|
UTSW |
1 |
181,015,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7804:Wdr26
|
UTSW |
1 |
181,010,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7815:Wdr26
|
UTSW |
1 |
181,036,638 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8717:Wdr26
|
UTSW |
1 |
181,011,913 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9072:Wdr26
|
UTSW |
1 |
181,010,351 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9358:Wdr26
|
UTSW |
1 |
181,019,423 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9520:Wdr26
|
UTSW |
1 |
181,036,587 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9523:Wdr26
|
UTSW |
1 |
181,013,620 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9719:Wdr26
|
UTSW |
1 |
181,015,224 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9793:Wdr26
|
UTSW |
1 |
181,036,812 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9795:Wdr26
|
UTSW |
1 |
181,036,812 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAAGGGAGCACGCCATACTTA -3'
(R):5'- TGGAATCCATACTGTTGAGGCAGGA -3'
Sequencing Primer
(F):5'- TACTTACACACTGGTAGAACTGAC -3'
(R):5'- tcaaactcagaagtccgcc -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation