Incidental Mutation 'R5884:Wdr26'
ID |
454549 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr26
|
Ensembl Gene |
ENSMUSG00000038733 |
Gene Name |
WD repeat domain 26 |
Synonyms |
Gid7, 1600024A01Rik |
MMRRC Submission |
044087-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.881)
|
Stock # |
R5884 (G1)
|
Quality Score |
126 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
181000793-181039566 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to C
at 181015106 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124186
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162819]
[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: 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 benign
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 benign
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 95.6%
- 20x: 82.8%
|
Validation Efficiency |
96% (66/69) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bmp5 |
T |
C |
9: 75,805,836 (GRCm39) |
M446T |
probably damaging |
Het |
Cacna1g |
C |
T |
11: 94,328,693 (GRCm39) |
A1052T |
probably damaging |
Het |
Cand1 |
C |
T |
10: 119,049,670 (GRCm39) |
A359T |
possibly damaging |
Het |
Ccne2 |
A |
T |
4: 11,199,411 (GRCm39) |
T271S |
probably benign |
Het |
Cep112 |
A |
G |
11: 108,461,142 (GRCm39) |
T546A |
probably damaging |
Het |
Ces1g |
A |
G |
8: 94,033,558 (GRCm39) |
S455P |
probably benign |
Het |
Dnah11 |
A |
T |
12: 118,141,269 (GRCm39) |
C496S |
probably benign |
Het |
Dtx3l |
C |
G |
16: 35,752,603 (GRCm39) |
E668Q |
probably benign |
Het |
Dysf |
T |
A |
6: 84,163,063 (GRCm39) |
F1579I |
probably damaging |
Het |
Emx2 |
T |
G |
19: 59,452,461 (GRCm39) |
D248E |
probably damaging |
Het |
Eri2 |
A |
C |
7: 119,371,552 (GRCm39) |
*275E |
probably null |
Het |
F5 |
G |
A |
1: 164,023,215 (GRCm39) |
R1591H |
probably benign |
Het |
Fabp3 |
A |
G |
4: 130,206,131 (GRCm39) |
T41A |
probably benign |
Het |
Fam89a |
C |
T |
8: 125,478,508 (GRCm39) |
R14H |
probably damaging |
Het |
Gbe1 |
T |
A |
16: 70,325,763 (GRCm39) |
|
probably null |
Het |
Golga3 |
A |
G |
5: 110,364,761 (GRCm39) |
E1211G |
probably damaging |
Het |
Gpa33 |
T |
C |
1: 165,980,329 (GRCm39) |
S131P |
probably damaging |
Het |
Hyal6 |
T |
C |
6: 24,743,368 (GRCm39) |
Y355H |
probably damaging |
Het |
Ide |
A |
T |
19: 37,249,552 (GRCm39) |
|
probably null |
Het |
Ighv5-21 |
A |
T |
12: 114,283,806 (GRCm39) |
|
probably benign |
Het |
Iglc1 |
A |
T |
16: 18,880,741 (GRCm39) |
|
probably benign |
Het |
Impa1 |
A |
T |
3: 10,381,284 (GRCm39) |
N199K |
probably damaging |
Het |
Irx5 |
A |
C |
8: 93,087,258 (GRCm39) |
T397P |
possibly damaging |
Het |
Lonp2 |
A |
G |
8: 87,368,254 (GRCm39) |
Y356C |
probably damaging |
Het |
Matn4 |
A |
T |
2: 164,246,528 (GRCm39) |
|
probably benign |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Nav2 |
T |
A |
7: 49,246,917 (GRCm39) |
Y2147* |
probably null |
Het |
Nek5 |
C |
T |
8: 22,578,817 (GRCm39) |
|
probably null |
Het |
Omt2b |
A |
G |
9: 78,235,839 (GRCm39) |
M55V |
probably benign |
Het |
Or5d37 |
A |
G |
2: 87,924,140 (GRCm39) |
Y47H |
probably damaging |
Het |
Or6z1 |
C |
A |
7: 6,504,842 (GRCm39) |
V128L |
probably benign |
Het |
Or9g8 |
T |
A |
2: 85,607,399 (GRCm39) |
I157K |
probably damaging |
Het |
Parp4 |
T |
A |
14: 56,852,207 (GRCm39) |
H796Q |
probably damaging |
Het |
Pex2 |
T |
C |
3: 5,626,359 (GRCm39) |
E150G |
probably benign |
Het |
Poglut2 |
T |
C |
1: 44,156,260 (GRCm39) |
N109S |
probably benign |
Het |
Psmb2 |
T |
A |
4: 126,578,014 (GRCm39) |
V64E |
possibly damaging |
Het |
Psmd6 |
C |
T |
14: 14,116,526 (GRCm38) |
R63H |
probably damaging |
Het |
Ptprd |
A |
G |
4: 75,900,927 (GRCm39) |
Y1061H |
probably damaging |
Het |
Rab23 |
A |
G |
1: 33,763,967 (GRCm39) |
|
probably benign |
Het |
Rad51ap2 |
GAAAAGGAAACTATTTAAAA |
GAAAA |
12: 11,507,534 (GRCm39) |
|
probably benign |
Het |
Reg1 |
C |
T |
6: 78,405,200 (GRCm39) |
S141L |
possibly damaging |
Het |
Rock1 |
A |
T |
18: 10,099,361 (GRCm39) |
I680K |
probably benign |
Het |
Sez6l2 |
A |
G |
7: 126,569,328 (GRCm39) |
|
probably benign |
Het |
Slc34a2 |
A |
T |
5: 53,226,722 (GRCm39) |
Q615L |
possibly damaging |
Het |
Slu7 |
A |
G |
11: 43,334,245 (GRCm39) |
K424E |
probably benign |
Het |
Tctn2 |
A |
T |
5: 124,741,895 (GRCm39) |
|
noncoding transcript |
Het |
Tmem87a |
T |
A |
2: 120,234,605 (GRCm39) |
|
probably benign |
Het |
Trappc4 |
A |
G |
9: 44,315,385 (GRCm39) |
F198L |
probably damaging |
Het |
Usp33 |
C |
T |
3: 152,073,967 (GRCm39) |
T271I |
probably benign |
Het |
Vmn1r15 |
T |
A |
6: 57,235,993 (GRCm39) |
I287K |
probably damaging |
Het |
Vmn2r75 |
A |
C |
7: 85,814,578 (GRCm39) |
I305R |
probably benign |
Het |
Zzz3 |
T |
C |
3: 152,156,295 (GRCm39) |
S684P |
probably damaging |
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 |
|
R0530:Wdr26
|
UTSW |
1 |
181,013,635 (GRCm39) |
splice site |
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 |
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'- CAGCAGCGTCGTCAAAATGAC -3'
(R):5'- CGTTAGAAGGACATGCGTATGGTG -3'
Sequencing Primer
(F):5'- AGGACCAGCCCTTAAACGGATTTC -3'
(R):5'- GTCTCTTATATAGCATGGAGTCCAG -3'
|
Posted On |
2017-02-10 |