Incidental Mutation 'IGL02077:Wdr43'
| ID |
185998 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wdr43
|
| Ensembl Gene |
ENSMUSG00000041057 |
| Gene Name |
WD repeat domain 43 |
| Synonyms |
2610318G08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
IGL02077
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
71923175-71966026 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 71947286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 381
(A381T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047086]
|
| AlphaFold |
Q6ZQL4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047086
AA Change: A381T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000048337
Gene: ENSMUSG00000041057
AA Change: A381T
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
8 |
42 |
4.42e1 |
SMART |
|
WD40
|
45 |
110 |
2.2e2 |
SMART |
|
WD40
|
113 |
154 |
7.85e-7 |
SMART |
|
WD40
|
157 |
194 |
1.24e-4 |
SMART |
|
WD40
|
197 |
249 |
5.52e0 |
SMART |
|
Blast:WD40
|
256 |
299 |
1e-18 |
BLAST |
|
low complexity region
|
320 |
334 |
N/A |
INTRINSIC |
|
Pfam:Utp12
|
472 |
575 |
2.3e-23 |
PFAM |
|
coiled coil region
|
635 |
663 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174972
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175146
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(36) : Gene trapped(36)
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap11a |
G |
T |
2: 113,667,816 (GRCm39) |
T395K |
possibly damaging |
Het |
| Dop1b |
T |
C |
16: 93,577,648 (GRCm39) |
S58P |
probably damaging |
Het |
| F5 |
T |
A |
1: 164,026,435 (GRCm39) |
V1669E |
probably damaging |
Het |
| Fndc7 |
T |
A |
3: 108,790,784 (GRCm39) |
T81S |
probably benign |
Het |
| Hnf4a |
G |
T |
2: 163,404,527 (GRCm39) |
|
probably null |
Het |
| Il27 |
C |
T |
7: 126,194,051 (GRCm39) |
|
probably null |
Het |
| Lhcgr |
G |
A |
17: 89,057,558 (GRCm39) |
T311I |
probably benign |
Het |
| Mafb |
A |
G |
2: 160,207,687 (GRCm39) |
S304P |
probably benign |
Het |
| Mfrp |
C |
T |
9: 44,016,517 (GRCm39) |
T404M |
probably damaging |
Het |
| Ntpcr |
T |
A |
8: 126,464,107 (GRCm39) |
Y77* |
probably null |
Het |
| Otof |
A |
G |
5: 30,556,579 (GRCm39) |
S301P |
probably damaging |
Het |
| Prpf6 |
G |
A |
2: 181,282,457 (GRCm39) |
G533R |
probably damaging |
Het |
| Prpf8 |
T |
A |
11: 75,386,635 (GRCm39) |
H1041Q |
probably damaging |
Het |
| Pyurf |
T |
C |
6: 57,666,820 (GRCm39) |
I81V |
probably benign |
Het |
| Rsl1d1 |
A |
G |
16: 11,012,320 (GRCm39) |
|
probably benign |
Het |
| Sema6a |
A |
T |
18: 47,416,465 (GRCm39) |
D387E |
possibly damaging |
Het |
| Serpinb3a |
T |
G |
1: 106,974,111 (GRCm39) |
T267P |
probably damaging |
Het |
| Tgm7 |
A |
T |
2: 120,934,316 (GRCm39) |
M192K |
probably damaging |
Het |
| Thbs1 |
G |
T |
2: 117,943,591 (GRCm39) |
V70L |
probably benign |
Het |
| Thsd7b |
T |
A |
1: 129,744,419 (GRCm39) |
I769N |
probably damaging |
Het |
| Tlr9 |
A |
G |
9: 106,102,704 (GRCm39) |
Y665C |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,600,506 (GRCm39) |
D18928G |
probably damaging |
Het |
| Uggt1 |
A |
G |
1: 36,215,875 (GRCm39) |
S131P |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,564,875 (GRCm39) |
N854S |
possibly damaging |
Het |
| Vps13b |
A |
G |
15: 35,910,759 (GRCm39) |
T3508A |
possibly damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,323,169 (GRCm39) |
M859K |
possibly damaging |
Het |
|
| Other mutations in Wdr43 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00231:Wdr43
|
APN |
17 |
71,959,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02114:Wdr43
|
APN |
17 |
71,959,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02252:Wdr43
|
APN |
17 |
71,933,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02352:Wdr43
|
APN |
17 |
71,939,043 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02359:Wdr43
|
APN |
17 |
71,939,043 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03082:Wdr43
|
APN |
17 |
71,945,336 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03095:Wdr43
|
APN |
17 |
71,948,282 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02837:Wdr43
|
UTSW |
17 |
71,949,731 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0039:Wdr43
|
UTSW |
17 |
71,960,487 (GRCm39) |
nonsense |
probably null |
|
|
R0164:Wdr43
|
UTSW |
17 |
71,938,992 (GRCm39) |
splice site |
probably benign |
|
|
R0271:Wdr43
|
UTSW |
17 |
71,933,820 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1117:Wdr43
|
UTSW |
17 |
71,923,382 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1873:Wdr43
|
UTSW |
17 |
71,940,647 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1973:Wdr43
|
UTSW |
17 |
71,947,235 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3620:Wdr43
|
UTSW |
17 |
71,957,601 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3922:Wdr43
|
UTSW |
17 |
71,945,296 (GRCm39) |
splice site |
probably benign |
|
|
R4097:Wdr43
|
UTSW |
17 |
71,964,532 (GRCm39) |
missense |
probably benign |
|
|
R5067:Wdr43
|
UTSW |
17 |
71,933,849 (GRCm39) |
missense |
probably benign |
|
|
R5282:Wdr43
|
UTSW |
17 |
71,955,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6251:Wdr43
|
UTSW |
17 |
71,957,048 (GRCm39) |
splice site |
probably null |
|
|
R6364:Wdr43
|
UTSW |
17 |
71,964,649 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7086:Wdr43
|
UTSW |
17 |
71,923,434 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7725:Wdr43
|
UTSW |
17 |
71,923,338 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8104:Wdr43
|
UTSW |
17 |
71,923,350 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8901:Wdr43
|
UTSW |
17 |
71,932,461 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9648:Wdr43
|
UTSW |
17 |
71,960,494 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2014-05-07 |
Incidental Mutation