Incidental Mutation 'R2883:Wdr26'
| ID |
260893 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr26
|
| Ensembl Gene |
ENSMUSG00000038733 |
| Gene Name |
WD repeat domain 26 |
| Synonyms |
Gid7, 1600024A01Rik |
| MMRRC Submission |
040471-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
R2883 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
181000793-181039566 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 181038685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 102
(D102E)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162819]
[ENSMUST00000162963]
|
| AlphaFold |
Q8C6G8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036329
AA Change: D102E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045177
Gene: ENSMUSG00000038733
AA Change: D102E
| 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: ENSMUST00000162819
AA Change: D106E
PolyPhen 2
Score 0.324 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000124592
Gene: ENSMUSG00000038733
AA Change: D106E
| 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
AA Change: D106E
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000124186
Gene: ENSMUSG00000038733
AA Change: D106E
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
G |
A |
8: 122,266,644 (GRCm39) |
P81S |
probably damaging |
Het |
| Arhgef10l |
T |
C |
4: 140,244,113 (GRCm39) |
Q790R |
probably benign |
Het |
| Asic2 |
T |
A |
11: 80,784,839 (GRCm39) |
I367F |
possibly damaging |
Het |
| Asxl2 |
T |
C |
12: 3,551,830 (GRCm39) |
S1191P |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,989,602 (GRCm39) |
S374P |
probably benign |
Het |
| C1qtnf7 |
T |
A |
5: 43,773,222 (GRCm39) |
F167I |
probably damaging |
Het |
| Cimip3 |
C |
A |
17: 47,747,650 (GRCm39) |
V32F |
probably damaging |
Het |
| Col13a1 |
A |
G |
10: 61,814,135 (GRCm39) |
L94P |
probably benign |
Het |
| Cped1 |
A |
T |
6: 22,143,978 (GRCm39) |
T575S |
probably damaging |
Het |
| Cpt1b |
T |
C |
15: 89,302,072 (GRCm39) |
Y702C |
probably benign |
Het |
| D630039A03Rik |
T |
A |
4: 57,910,560 (GRCm39) |
N84I |
probably damaging |
Het |
| Dse |
A |
T |
10: 34,028,503 (GRCm39) |
D862E |
probably benign |
Het |
| Etl4 |
A |
T |
2: 20,810,985 (GRCm39) |
T1023S |
possibly damaging |
Het |
| Fat4 |
T |
A |
3: 39,034,953 (GRCm39) |
N2868K |
probably damaging |
Het |
| Fgd5 |
G |
A |
6: 91,964,090 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
C |
T |
2: 82,821,868 (GRCm39) |
T5867I |
possibly damaging |
Het |
| Fuca2 |
A |
G |
10: 13,381,695 (GRCm39) |
T203A |
probably benign |
Het |
| Gli2 |
T |
C |
1: 118,795,874 (GRCm39) |
I131V |
probably damaging |
Het |
| Gtpbp4 |
A |
G |
13: 9,040,759 (GRCm39) |
V122A |
possibly damaging |
Het |
| Kif1b |
G |
A |
4: 149,322,105 (GRCm39) |
T938I |
possibly damaging |
Het |
| Klhl29 |
T |
C |
12: 5,134,036 (GRCm39) |
D767G |
probably damaging |
Het |
| Mageb3 |
A |
G |
2: 121,784,847 (GRCm39) |
V285A |
probably benign |
Het |
| Myoc |
A |
G |
1: 162,467,185 (GRCm39) |
E118G |
possibly damaging |
Het |
| Nedd1 |
A |
C |
10: 92,530,860 (GRCm39) |
F410V |
probably damaging |
Het |
| Nipal1 |
A |
T |
5: 72,825,073 (GRCm39) |
K255N |
probably damaging |
Het |
| Npr3 |
T |
C |
15: 11,883,410 (GRCm39) |
K340E |
possibly damaging |
Het |
| Obsl1 |
C |
A |
1: 75,473,155 (GRCm39) |
G1023C |
possibly damaging |
Het |
| Ogdh |
T |
C |
11: 6,284,545 (GRCm39) |
L188P |
probably damaging |
Het |
| Or51ac3 |
T |
C |
7: 103,214,471 (GRCm39) |
N5S |
probably benign |
Het |
| Or5v1 |
C |
T |
17: 37,810,271 (GRCm39) |
S243F |
probably damaging |
Het |
| Or9q1 |
T |
A |
19: 13,805,239 (GRCm39) |
I174F |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,604,842 (GRCm39) |
T2188M |
probably damaging |
Het |
| Pck1 |
G |
A |
2: 173,000,368 (GRCm39) |
V600I |
probably benign |
Het |
| Ranbp17 |
A |
G |
11: 33,454,708 (GRCm39) |
C42R |
probably damaging |
Het |
| Rapgef4 |
G |
A |
2: 71,861,469 (GRCm39) |
R53H |
probably benign |
Het |
| Rbm12 |
G |
A |
2: 155,938,995 (GRCm39) |
H426Y |
probably damaging |
Het |
| Retreg2 |
C |
T |
1: 75,123,356 (GRCm39) |
P428L |
probably benign |
Het |
| Rev3l |
G |
T |
10: 39,701,152 (GRCm39) |
S1883I |
probably damaging |
Het |
| Rinl |
CGGG |
CGGGGG |
7: 28,497,083 (GRCm39) |
|
probably null |
Het |
| Rora |
T |
C |
9: 69,282,717 (GRCm39) |
S356P |
probably damaging |
Het |
| Slc31a1 |
T |
C |
4: 62,307,008 (GRCm39) |
V188A |
probably damaging |
Het |
| Slc9a3 |
A |
G |
13: 74,306,879 (GRCm39) |
K335E |
probably damaging |
Het |
| Spata22 |
C |
A |
11: 73,235,504 (GRCm39) |
H274N |
possibly damaging |
Het |
| Srrm1 |
T |
C |
4: 135,048,722 (GRCm39) |
|
probably benign |
Het |
| Stab2 |
A |
T |
10: 86,803,550 (GRCm39) |
I333N |
possibly damaging |
Het |
| Supt5 |
A |
G |
7: 28,028,745 (GRCm39) |
Y153H |
possibly damaging |
Het |
| Tyk2 |
T |
C |
9: 21,021,883 (GRCm39) |
T825A |
probably benign |
Het |
| Usp20 |
G |
A |
2: 30,908,812 (GRCm39) |
V798M |
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 |
|
|
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 |
|
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'- AAGACATCGGGCCGATTCC -3'
(R):5'- GAAACTCTGGCCTCCGCTTC -3'
Sequencing Primer
(F):5'- GGGCCGATTCCCTTTCCTAGAC -3'
(R):5'- AGAACGGGGAGTCGTCC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation