Incidental Mutation 'IGL02685:Wdr26'
| ID |
303531 |
| 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: 0.881)
|
| Stock # |
IGL02685
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
181000793-181039566 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 181011345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 511
(S511T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124592
(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 |
unknown
Transcript: ENSMUST00000159673
AA Change: S14T
|
| SMART Domains |
Protein: ENSMUSP00000125023
Gene: ENSMUSG00000038733
AA Change: S14T
| 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 |
possibly damaging
Transcript: ENSMUST00000162819
AA Change: S511T
PolyPhen 2
Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124592
Gene: ENSMUSG00000038733
AA Change: S511T
| 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: S495T
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000124186
Gene: ENSMUSG00000038733
AA Change: S495T
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
C |
12: 118,869,682 (GRCm39) |
Y779C |
probably damaging |
Het |
| Acad10 |
A |
G |
5: 121,770,672 (GRCm39) |
F532L |
probably benign |
Het |
| Adgrb3 |
A |
T |
1: 25,123,323 (GRCm39) |
|
probably null |
Het |
| Akr1d1 |
T |
C |
6: 37,507,278 (GRCm39) |
|
probably benign |
Het |
| Aqp11 |
A |
G |
7: 97,386,759 (GRCm39) |
Y146H |
probably damaging |
Het |
| Cdh2 |
A |
T |
18: 16,779,557 (GRCm39) |
L168Q |
probably damaging |
Het |
| Ces2f |
C |
T |
8: 105,679,730 (GRCm39) |
Q277* |
probably null |
Het |
| Cmya5 |
G |
A |
13: 93,227,505 (GRCm39) |
Q2528* |
probably null |
Het |
| Col22a1 |
A |
G |
15: 71,673,764 (GRCm39) |
V984A |
unknown |
Het |
| Col5a3 |
T |
C |
9: 20,683,501 (GRCm39) |
D1557G |
unknown |
Het |
| Cpb1 |
A |
T |
3: 20,319,520 (GRCm39) |
V188E |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Ephb1 |
G |
T |
9: 101,918,302 (GRCm39) |
Y402* |
probably null |
Het |
| Foxm1 |
T |
C |
6: 128,350,070 (GRCm39) |
L319S |
possibly damaging |
Het |
| Gmppb |
T |
C |
9: 107,927,118 (GRCm39) |
|
probably benign |
Het |
| Grid2 |
T |
G |
6: 64,322,800 (GRCm39) |
M600R |
possibly damaging |
Het |
| Gstm6 |
T |
C |
3: 107,848,507 (GRCm39) |
K57E |
probably benign |
Het |
| Hars2 |
T |
G |
18: 36,924,171 (GRCm39) |
S422A |
probably benign |
Het |
| Igdcc4 |
T |
C |
9: 65,041,107 (GRCm39) |
M1092T |
possibly damaging |
Het |
| Ighv13-1 |
C |
A |
12: 114,231,403 (GRCm39) |
|
probably benign |
Het |
| Iqgap2 |
C |
A |
13: 95,807,912 (GRCm39) |
R785L |
probably damaging |
Het |
| Kalrn |
G |
A |
16: 34,334,329 (GRCm39) |
Q8* |
probably null |
Het |
| Mms22l |
A |
G |
4: 24,591,133 (GRCm39) |
T1035A |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,817,658 (GRCm39) |
Y535H |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,065,313 (GRCm39) |
K6234N |
possibly damaging |
Het |
| Nlrp9c |
A |
G |
7: 26,084,982 (GRCm39) |
I199T |
probably damaging |
Het |
| Or10ak7 |
A |
T |
4: 118,791,134 (GRCm39) |
F304I |
possibly damaging |
Het |
| Or4c108 |
T |
A |
2: 88,803,365 (GRCm39) |
N290I |
possibly damaging |
Het |
| Or52h9 |
C |
A |
7: 104,202,357 (GRCm39) |
T77K |
probably benign |
Het |
| Or7g32 |
T |
C |
9: 19,408,098 (GRCm39) |
I18T |
probably benign |
Het |
| Osmr |
T |
C |
15: 6,845,054 (GRCm39) |
E904G |
probably benign |
Het |
| Pde8b |
T |
C |
13: 95,162,628 (GRCm39) |
*831W |
probably null |
Het |
| Prkdc |
T |
C |
16: 15,653,907 (GRCm39) |
V3888A |
possibly damaging |
Het |
| Scn9a |
C |
A |
2: 66,367,637 (GRCm39) |
S693I |
probably damaging |
Het |
| Sepsecs |
T |
C |
5: 52,804,534 (GRCm39) |
T379A |
probably benign |
Het |
| Ska1 |
T |
A |
18: 74,330,119 (GRCm39) |
H207L |
probably benign |
Het |
| Slc17a9 |
C |
A |
2: 180,375,602 (GRCm39) |
Q175K |
probably damaging |
Het |
| Slc38a2 |
G |
A |
15: 96,589,306 (GRCm39) |
T396I |
probably benign |
Het |
| Slc9a4 |
A |
C |
1: 40,668,742 (GRCm39) |
H795P |
probably benign |
Het |
| Sorbs2 |
C |
T |
8: 46,256,877 (GRCm39) |
T955I |
probably benign |
Het |
| Spata4 |
A |
T |
8: 55,053,963 (GRCm39) |
H43L |
probably benign |
Het |
| Ss18l2 |
G |
A |
9: 121,539,484 (GRCm39) |
A6T |
possibly damaging |
Het |
| Sult1e1 |
C |
T |
5: 87,727,765 (GRCm39) |
W172* |
probably null |
Het |
| Tlcd1 |
T |
C |
11: 78,070,363 (GRCm39) |
|
probably benign |
Het |
| Tmc8 |
T |
C |
11: 117,683,400 (GRCm39) |
S652P |
probably damaging |
Het |
| Vps37b |
T |
C |
5: 124,148,874 (GRCm39) |
S54G |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,477,213 (GRCm39) |
Y3251C |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation