Incidental Mutation 'IGL02605:Wdr36'
ID |
300231 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Wdr36
|
Ensembl Gene |
ENSMUSG00000038299 |
Gene Name |
WD repeat domain 36 |
Synonyms |
5730444A13Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02605
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
32970241-33000008 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32985044 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 450
(I450T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132189
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053663]
[ENSMUST00000166214]
|
AlphaFold |
Q3TAQ9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053663
AA Change: I450T
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000052465 Gene: ENSMUSG00000038299 AA Change: I450T
Domain | Start | End | E-Value | Type |
WD40
|
98 |
135 |
3.21e-1 |
SMART |
Blast:WD40
|
140 |
180 |
3e-15 |
BLAST |
WD40
|
183 |
222 |
9.21e0 |
SMART |
WD40
|
226 |
265 |
1.43e0 |
SMART |
WD40
|
268 |
308 |
5.35e-1 |
SMART |
WD40
|
315 |
355 |
7.43e-1 |
SMART |
WD40
|
473 |
515 |
1.46e-1 |
SMART |
WD40
|
559 |
598 |
2.2e-10 |
SMART |
WD40
|
601 |
640 |
1.43e1 |
SMART |
Pfam:Utp21
|
673 |
895 |
9.7e-72 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166214
AA Change: I450T
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000132189 Gene: ENSMUSG00000038299 AA Change: I450T
Domain | Start | End | E-Value | Type |
WD40
|
98 |
135 |
3.21e-1 |
SMART |
Blast:WD40
|
140 |
180 |
3e-15 |
BLAST |
WD40
|
183 |
222 |
9.21e0 |
SMART |
WD40
|
226 |
265 |
1.43e0 |
SMART |
WD40
|
268 |
308 |
5.35e-1 |
SMART |
WD40
|
315 |
355 |
7.43e-1 |
SMART |
WD40
|
473 |
515 |
1.46e-1 |
SMART |
WD40
|
559 |
598 |
2.2e-10 |
SMART |
WD40
|
601 |
640 |
1.43e1 |
SMART |
Pfam:Utp21
|
668 |
883 |
6.1e-72 |
PFAM |
|
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. Mutations in this gene have been associated with adult-onset primary open-angle glaucoma (POAG). [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous inactivation of this gene leads to complete embryonic lethality before implantation. In culture, homozygous mutant embryos fail to reach the blastocyst stage. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb2 |
A |
T |
2: 103,547,602 (GRCm39) |
Y992F |
probably benign |
Het |
Adgrg6 |
T |
A |
10: 14,342,976 (GRCm39) |
N324Y |
probably damaging |
Het |
Ampd3 |
T |
C |
7: 110,394,965 (GRCm39) |
F305L |
probably benign |
Het |
Ankrd35 |
A |
G |
3: 96,588,388 (GRCm39) |
|
probably null |
Het |
Api5 |
A |
G |
2: 94,260,064 (GRCm39) |
I64T |
possibly damaging |
Het |
Arhgap21 |
A |
G |
2: 20,860,399 (GRCm39) |
I1165T |
probably damaging |
Het |
Bdp1 |
T |
C |
13: 100,214,623 (GRCm39) |
|
probably null |
Het |
Capn3 |
T |
A |
2: 120,326,518 (GRCm39) |
I570N |
probably damaging |
Het |
Catsperg2 |
T |
C |
7: 29,418,990 (GRCm39) |
H232R |
possibly damaging |
Het |
Clcn7 |
T |
C |
17: 25,365,792 (GRCm39) |
L156P |
possibly damaging |
Het |
Cpa3 |
C |
A |
3: 20,276,376 (GRCm39) |
V286F |
probably benign |
Het |
Csrnp3 |
G |
A |
2: 65,853,153 (GRCm39) |
C527Y |
probably damaging |
Het |
Dock5 |
A |
T |
14: 68,065,887 (GRCm39) |
V372E |
probably benign |
Het |
Elmo1 |
T |
C |
13: 20,789,372 (GRCm39) |
L696P |
probably damaging |
Het |
Fam91a1 |
T |
C |
15: 58,303,045 (GRCm39) |
|
probably benign |
Het |
Gm12695 |
T |
A |
4: 96,650,988 (GRCm39) |
D155V |
probably null |
Het |
Hspa4l |
A |
G |
3: 40,736,055 (GRCm39) |
I559V |
probably benign |
Het |
Kdm1a |
G |
T |
4: 136,278,348 (GRCm39) |
|
probably benign |
Het |
Lrrc8d |
A |
T |
5: 105,974,683 (GRCm39) |
|
noncoding transcript |
Het |
Minpp1 |
A |
T |
19: 32,475,815 (GRCm39) |
Y316F |
possibly damaging |
Het |
Neto2 |
T |
C |
8: 86,390,064 (GRCm39) |
|
probably benign |
Het |
Nrxn2 |
T |
A |
19: 6,500,610 (GRCm39) |
D277E |
probably benign |
Het |
Ola1 |
A |
G |
2: 72,972,644 (GRCm39) |
|
probably benign |
Het |
Or4k48 |
A |
G |
2: 111,475,850 (GRCm39) |
V164A |
probably benign |
Het |
Or51r1 |
T |
C |
7: 102,228,602 (GRCm39) |
I300T |
probably damaging |
Het |
Or8c15 |
T |
A |
9: 38,120,532 (GRCm39) |
M61K |
probably damaging |
Het |
Pam |
A |
G |
1: 97,768,064 (GRCm39) |
V722A |
possibly damaging |
Het |
Pfdn6 |
T |
C |
17: 34,158,077 (GRCm39) |
Y90C |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,621,126 (GRCm39) |
H844L |
possibly damaging |
Het |
Plk5 |
G |
A |
10: 80,198,896 (GRCm39) |
V422M |
probably damaging |
Het |
Psmc1 |
G |
T |
12: 100,085,386 (GRCm39) |
R249L |
probably damaging |
Het |
Ptpro |
C |
T |
6: 137,357,316 (GRCm39) |
P269L |
probably benign |
Het |
Ralgapa1 |
G |
T |
12: 55,759,450 (GRCm39) |
H1480Q |
possibly damaging |
Het |
Rars1 |
G |
A |
11: 35,715,353 (GRCm39) |
|
probably benign |
Het |
Rbm48 |
G |
A |
5: 3,640,600 (GRCm39) |
R260C |
possibly damaging |
Het |
Smarcc1 |
C |
T |
9: 110,051,068 (GRCm39) |
H963Y |
possibly damaging |
Het |
Spef2 |
T |
C |
15: 9,725,238 (GRCm39) |
E230G |
probably damaging |
Het |
Spg11 |
A |
G |
2: 121,922,741 (GRCm39) |
S903P |
probably benign |
Het |
Tas2r122 |
T |
C |
6: 132,688,572 (GRCm39) |
Y107C |
probably damaging |
Het |
Tpm3 |
C |
A |
3: 89,995,753 (GRCm39) |
N204K |
probably benign |
Het |
|
Other mutations in Wdr36 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00925:Wdr36
|
APN |
18 |
32,978,684 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL01975:Wdr36
|
APN |
18 |
32,985,541 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02001:Wdr36
|
APN |
18 |
32,985,941 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02625:Wdr36
|
APN |
18 |
32,992,314 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL02928:Wdr36
|
APN |
18 |
32,980,372 (GRCm39) |
critical splice donor site |
probably null |
|
R0025:Wdr36
|
UTSW |
18 |
32,992,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R0025:Wdr36
|
UTSW |
18 |
32,992,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R0062:Wdr36
|
UTSW |
18 |
32,997,802 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0062:Wdr36
|
UTSW |
18 |
32,997,802 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0331:Wdr36
|
UTSW |
18 |
32,985,968 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0626:Wdr36
|
UTSW |
18 |
32,983,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R0835:Wdr36
|
UTSW |
18 |
32,982,135 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1484:Wdr36
|
UTSW |
18 |
32,976,938 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1498:Wdr36
|
UTSW |
18 |
32,986,021 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3522:Wdr36
|
UTSW |
18 |
32,994,538 (GRCm39) |
splice site |
probably null |
|
R4521:Wdr36
|
UTSW |
18 |
32,974,201 (GRCm39) |
splice site |
probably null |
|
R4902:Wdr36
|
UTSW |
18 |
32,992,314 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5482:Wdr36
|
UTSW |
18 |
32,974,957 (GRCm39) |
missense |
probably benign |
0.19 |
R5574:Wdr36
|
UTSW |
18 |
32,999,012 (GRCm39) |
missense |
probably damaging |
1.00 |
R5627:Wdr36
|
UTSW |
18 |
32,994,691 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6076:Wdr36
|
UTSW |
18 |
32,979,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R6186:Wdr36
|
UTSW |
18 |
32,985,954 (GRCm39) |
missense |
probably benign |
0.19 |
R6228:Wdr36
|
UTSW |
18 |
32,975,059 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7027:Wdr36
|
UTSW |
18 |
32,974,958 (GRCm39) |
missense |
probably benign |
0.04 |
R7112:Wdr36
|
UTSW |
18 |
32,972,504 (GRCm39) |
missense |
probably benign |
0.34 |
R7635:Wdr36
|
UTSW |
18 |
32,983,578 (GRCm39) |
missense |
probably benign |
0.19 |
R7642:Wdr36
|
UTSW |
18 |
32,987,624 (GRCm39) |
splice site |
probably null |
|
R7998:Wdr36
|
UTSW |
18 |
32,985,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R8200:Wdr36
|
UTSW |
18 |
32,998,979 (GRCm39) |
missense |
probably benign |
0.10 |
R8203:Wdr36
|
UTSW |
18 |
32,985,136 (GRCm39) |
nonsense |
probably null |
|
R8257:Wdr36
|
UTSW |
18 |
32,974,339 (GRCm39) |
intron |
probably benign |
|
R8334:Wdr36
|
UTSW |
18 |
32,992,346 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8845:Wdr36
|
UTSW |
18 |
32,994,098 (GRCm39) |
nonsense |
probably null |
|
R8894:Wdr36
|
UTSW |
18 |
32,970,340 (GRCm39) |
start gained |
probably benign |
|
R8901:Wdr36
|
UTSW |
18 |
32,980,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R9044:Wdr36
|
UTSW |
18 |
32,970,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R9181:Wdr36
|
UTSW |
18 |
32,981,382 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9565:Wdr36
|
UTSW |
18 |
32,994,168 (GRCm39) |
nonsense |
probably null |
|
R9800:Wdr36
|
UTSW |
18 |
32,985,700 (GRCm39) |
missense |
possibly damaging |
0.94 |
X0063:Wdr36
|
UTSW |
18 |
32,997,775 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1088:Wdr36
|
UTSW |
18 |
32,999,065 (GRCm39) |
splice site |
probably null |
|
|
Posted On |
2015-04-16 |