Incidental Mutation 'IGL03082:Wdr43'
| ID |
417908 |
| 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 # |
IGL03082
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
71923175-71966026 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 71945336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 315
(T315I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047086]
|
| AlphaFold |
Q6ZQL4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047086
AA Change: T315I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000048337
Gene: ENSMUSG00000041057
AA Change: T315I
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asic1 |
T |
A |
15: 99,594,428 (GRCm39) |
N324K |
probably benign |
Het |
| Atpaf2 |
T |
C |
11: 60,294,670 (GRCm39) |
E251G |
probably damaging |
Het |
| Cacna1d |
T |
C |
14: 29,821,190 (GRCm39) |
K1109E |
probably damaging |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Chst1 |
C |
T |
2: 92,444,278 (GRCm39) |
T250I |
possibly damaging |
Het |
| Cpne6 |
T |
C |
14: 55,753,760 (GRCm39) |
L406P |
probably damaging |
Het |
| Cryz |
A |
G |
3: 154,310,563 (GRCm39) |
M8V |
probably damaging |
Het |
| Dpysl2 |
T |
C |
14: 67,045,459 (GRCm39) |
E438G |
probably damaging |
Het |
| Elovl1 |
T |
C |
4: 118,288,077 (GRCm39) |
I71T |
probably benign |
Het |
| Eml2 |
T |
A |
7: 18,935,802 (GRCm39) |
Y679N |
probably damaging |
Het |
| Fam185a |
G |
A |
5: 21,660,836 (GRCm39) |
V284I |
possibly damaging |
Het |
| Fpgs |
C |
T |
2: 32,575,769 (GRCm39) |
W391* |
probably null |
Het |
| Hdac11 |
C |
T |
6: 91,150,085 (GRCm39) |
P295S |
probably damaging |
Het |
| Herc2 |
A |
T |
7: 55,835,671 (GRCm39) |
I3260F |
probably benign |
Het |
| Hltf |
G |
A |
3: 20,118,723 (GRCm39) |
|
probably benign |
Het |
| Immp2l |
T |
G |
12: 41,160,900 (GRCm39) |
V66G |
possibly damaging |
Het |
| Lrrc4c |
T |
C |
2: 97,460,931 (GRCm39) |
I519T |
probably benign |
Het |
| Megf8 |
A |
G |
7: 25,029,661 (GRCm39) |
T402A |
probably benign |
Het |
| Mttp |
T |
G |
3: 137,829,556 (GRCm39) |
I111L |
probably benign |
Het |
| Mycbp2 |
T |
A |
14: 103,441,805 (GRCm39) |
I1987F |
probably benign |
Het |
| Ncr1 |
T |
A |
7: 4,344,241 (GRCm39) |
|
probably benign |
Het |
| Nedd4 |
G |
A |
9: 72,584,676 (GRCm39) |
|
probably null |
Het |
| Nherf4 |
A |
T |
9: 44,162,083 (GRCm39) |
S39T |
possibly damaging |
Het |
| Nnt |
A |
G |
13: 119,533,404 (GRCm39) |
F87S |
probably damaging |
Het |
| Nol6 |
A |
G |
4: 41,115,878 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,635,857 (GRCm39) |
I491N |
probably damaging |
Het |
| Plcxd2 |
T |
C |
16: 45,785,473 (GRCm39) |
I311V |
probably damaging |
Het |
| Pou2f3 |
C |
A |
9: 43,058,212 (GRCm39) |
|
probably null |
Het |
| Rgsl1 |
G |
A |
1: 153,675,693 (GRCm39) |
T836I |
possibly damaging |
Het |
| Rttn |
G |
A |
18: 89,002,072 (GRCm39) |
G328D |
probably damaging |
Het |
| Serpina11 |
T |
C |
12: 103,952,560 (GRCm39) |
E77G |
probably benign |
Het |
| Slc35f1 |
G |
A |
10: 52,809,234 (GRCm39) |
V74I |
probably benign |
Het |
| Slc7a6 |
A |
G |
8: 106,919,854 (GRCm39) |
|
probably null |
Het |
| Smco2 |
A |
G |
6: 146,761,542 (GRCm39) |
T154A |
possibly damaging |
Het |
| Tcerg1 |
A |
G |
18: 42,706,422 (GRCm39) |
Y1033C |
probably damaging |
Het |
| Tmem87a |
A |
G |
2: 120,227,847 (GRCm39) |
F100S |
possibly damaging |
Het |
| Tssk4 |
T |
C |
14: 55,888,518 (GRCm39) |
F129S |
probably 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 |
|
IGL02077:Wdr43
|
APN |
17 |
71,947,286 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation