Incidental Mutation 'IGL02884:Wdr26'
| ID |
362919 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wdr26
|
| Ensembl Gene |
ENSMUSG00000038733 |
| Gene Name |
WD repeat domain 26 |
| Synonyms |
Gid7, 1600024A01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
IGL02884
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
181000793-181039566 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 181010349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 551
(A551T)
|
| 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 |
unknown
Transcript: ENSMUST00000159290
AA Change: A43T
|
| SMART Domains |
Protein: ENSMUSP00000123863
Gene: ENSMUSG00000038733
AA Change: A43T
| 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 |
unknown
Transcript: ENSMUST00000159673
AA Change: A70T
|
| SMART Domains |
Protein: ENSMUSP00000125023
Gene: ENSMUSG00000038733
AA Change: A70T
| 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 damaging
Transcript: ENSMUST00000162819
AA Change: A567T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124592
Gene: ENSMUSG00000038733
AA Change: A567T
| 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 damaging
Transcript: ENSMUST00000162963
AA Change: A551T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124186
Gene: ENSMUSG00000038733
AA Change: A551T
| 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 |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
A |
G |
11: 58,178,302 (GRCm39) |
I121V |
probably benign |
Het |
| Adprh |
C |
T |
16: 38,266,396 (GRCm39) |
V249I |
probably benign |
Het |
| Akap11 |
A |
T |
14: 78,736,402 (GRCm39) |
M1797K |
probably benign |
Het |
| Akap6 |
T |
A |
12: 52,933,405 (GRCm39) |
I299N |
probably benign |
Het |
| Akr1c12 |
A |
T |
13: 4,322,211 (GRCm39) |
M277K |
possibly damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,412,616 (GRCm39) |
M1236K |
probably damaging |
Het |
| Arhgef11 |
A |
G |
3: 87,635,313 (GRCm39) |
D874G |
probably damaging |
Het |
| Atg4b |
T |
C |
1: 93,715,437 (GRCm39) |
|
probably benign |
Het |
| Bcl9 |
G |
A |
3: 97,117,368 (GRCm39) |
P442L |
probably damaging |
Het |
| Ccdc107 |
A |
T |
4: 43,495,228 (GRCm39) |
K98* |
probably null |
Het |
| Cenpl |
A |
G |
1: 160,913,619 (GRCm39) |
Q343R |
probably benign |
Het |
| Cep104 |
T |
C |
4: 154,074,319 (GRCm39) |
C524R |
probably damaging |
Het |
| Clec3b |
C |
T |
9: 122,985,827 (GRCm39) |
T75I |
probably benign |
Het |
| Col13a1 |
A |
T |
10: 61,741,064 (GRCm39) |
|
probably benign |
Het |
| Crot |
C |
T |
5: 9,028,197 (GRCm39) |
|
probably null |
Het |
| Ddo |
G |
A |
10: 40,513,360 (GRCm39) |
V101I |
probably benign |
Het |
| Disp2 |
T |
C |
2: 118,618,032 (GRCm39) |
|
probably benign |
Het |
| Dnmt3b |
A |
C |
2: 153,516,297 (GRCm39) |
Y474S |
probably damaging |
Het |
| Dpp6 |
T |
A |
5: 27,839,554 (GRCm39) |
N298K |
possibly damaging |
Het |
| Fbf1 |
C |
T |
11: 116,037,339 (GRCm39) |
E940K |
probably damaging |
Het |
| Fgd6 |
A |
G |
10: 93,881,501 (GRCm39) |
|
probably benign |
Het |
| H2-M10.2 |
T |
C |
17: 36,595,568 (GRCm39) |
R241G |
probably damaging |
Het |
| Haghl |
A |
T |
17: 26,002,072 (GRCm39) |
F207Y |
possibly damaging |
Het |
| Helt |
G |
A |
8: 46,745,620 (GRCm39) |
R88C |
probably damaging |
Het |
| Igf2bp2 |
T |
C |
16: 21,981,635 (GRCm39) |
K27E |
probably benign |
Het |
| Il1b |
T |
C |
2: 129,207,022 (GRCm39) |
H246R |
probably benign |
Het |
| Itprid1 |
T |
C |
6: 55,851,339 (GRCm39) |
|
probably null |
Het |
| Kcnu1 |
C |
T |
8: 26,411,556 (GRCm39) |
S167L |
probably damaging |
Het |
| Kif16b |
A |
T |
2: 142,544,534 (GRCm39) |
|
probably benign |
Het |
| Myh7 |
A |
T |
14: 55,230,276 (GRCm39) |
S19T |
probably benign |
Het |
| Ncaph2 |
T |
C |
15: 89,248,447 (GRCm39) |
|
probably null |
Het |
| Nlrp4c |
T |
C |
7: 6,101,951 (GRCm39) |
L879P |
probably damaging |
Het |
| Nqo2 |
T |
A |
13: 34,156,344 (GRCm39) |
N19K |
probably damaging |
Het |
| Or2r2 |
C |
T |
6: 42,463,540 (GRCm39) |
V196M |
probably damaging |
Het |
| Osbpl1a |
C |
A |
18: 12,952,635 (GRCm39) |
G93* |
probably null |
Het |
| Pdxdc1 |
A |
G |
16: 13,661,659 (GRCm39) |
F459L |
possibly damaging |
Het |
| Phc2 |
A |
T |
4: 128,601,809 (GRCm39) |
H88L |
probably damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Ptchd4 |
A |
T |
17: 42,813,340 (GRCm39) |
T414S |
possibly damaging |
Het |
| Rab7b |
A |
G |
1: 131,626,280 (GRCm39) |
R103G |
probably damaging |
Het |
| Retnla |
A |
G |
16: 48,662,943 (GRCm39) |
Y3C |
probably benign |
Het |
| Samd7 |
G |
A |
3: 30,810,322 (GRCm39) |
R113H |
probably damaging |
Het |
| Shisa9 |
G |
A |
16: 11,814,907 (GRCm39) |
|
probably benign |
Het |
| Soat1 |
A |
T |
1: 156,268,926 (GRCm39) |
I208N |
possibly damaging |
Het |
| Stab1 |
C |
A |
14: 30,872,100 (GRCm39) |
|
probably null |
Het |
| Tti2 |
C |
T |
8: 31,641,505 (GRCm39) |
L210F |
possibly damaging |
Het |
| Ube2v2 |
A |
G |
16: 15,374,349 (GRCm39) |
V77A |
probably benign |
Het |
| Ubr5 |
T |
C |
15: 37,998,620 (GRCm39) |
E1617G |
probably damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,508,757 (GRCm39) |
I495K |
possibly damaging |
Het |
| Vwce |
G |
T |
19: 10,623,943 (GRCm39) |
R278L |
possibly damaging |
Het |
| Wee1 |
A |
G |
7: 109,725,269 (GRCm39) |
I304V |
probably benign |
Het |
| Xrcc5 |
C |
T |
1: 72,385,396 (GRCm39) |
H496Y |
possibly damaging |
Het |
| Zfp142 |
G |
T |
1: 74,611,142 (GRCm39) |
S884R |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation