Incidental Mutation 'IGL02526:Wdr38'
ID |
297093 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Wdr38
|
Ensembl Gene |
ENSMUSG00000035295 |
Gene Name |
WD repeat domain 38 |
Synonyms |
1700123D08Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
IGL02526
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
38888287-38891600 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 38888424 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 7
(N7I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108493
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039535]
[ENSMUST00000080861]
[ENSMUST00000112872]
|
AlphaFold |
Q9D994 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039535
AA Change: N7I
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000043834 Gene: ENSMUSG00000035295 AA Change: N7I
Domain | Start | End | E-Value | Type |
WD40
|
15 |
54 |
9.67e-7 |
SMART |
WD40
|
57 |
96 |
9.22e-13 |
SMART |
WD40
|
99 |
138 |
4.4e-10 |
SMART |
WD40
|
141 |
180 |
1.21e-7 |
SMART |
WD40
|
186 |
224 |
9.97e-9 |
SMART |
WD40
|
227 |
266 |
4.34e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000080861
|
SMART Domains |
Protein: ENSMUSP00000079672 Gene: ENSMUSG00000062997
Domain | Start | End | E-Value | Type |
Pfam:Ribosomal_L29
|
7 |
63 |
2.7e-22 |
PFAM |
low complexity region
|
95 |
108 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112872
AA Change: N7I
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000108493 Gene: ENSMUSG00000035295 AA Change: N7I
Domain | Start | End | E-Value | Type |
WD40
|
15 |
54 |
9.67e-7 |
SMART |
WD40
|
57 |
96 |
9.22e-13 |
SMART |
WD40
|
99 |
138 |
4.4e-10 |
SMART |
WD40
|
141 |
180 |
1.21e-7 |
SMART |
WD40
|
186 |
224 |
9.97e-9 |
SMART |
WD40
|
227 |
266 |
4.34e-9 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124062
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141133
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152441
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad10 |
A |
G |
5: 121,784,923 (GRCm39) |
V231A |
probably damaging |
Het |
Aff4 |
T |
C |
11: 53,297,509 (GRCm39) |
|
probably benign |
Het |
Ano2 |
G |
A |
6: 125,849,714 (GRCm39) |
|
probably null |
Het |
Aspm |
A |
G |
1: 139,417,457 (GRCm39) |
E2818G |
probably benign |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
Caprin1 |
T |
C |
2: 103,605,948 (GRCm39) |
|
probably benign |
Het |
Clca3a2 |
T |
C |
3: 144,793,779 (GRCm39) |
H292R |
probably benign |
Het |
Dnah11 |
G |
A |
12: 118,143,353 (GRCm39) |
T430M |
possibly damaging |
Het |
Fgd6 |
A |
G |
10: 93,936,373 (GRCm39) |
N902S |
probably benign |
Het |
Grm3 |
A |
G |
5: 9,639,847 (GRCm39) |
I66T |
probably damaging |
Het |
H13 |
T |
A |
2: 152,530,602 (GRCm39) |
F158L |
probably damaging |
Het |
Kcnb2 |
A |
G |
1: 15,780,979 (GRCm39) |
E617G |
probably damaging |
Het |
Kcnh7 |
T |
C |
2: 62,680,781 (GRCm39) |
S269G |
possibly damaging |
Het |
Krit1 |
T |
A |
5: 3,872,103 (GRCm39) |
I376N |
probably damaging |
Het |
Lonrf2 |
T |
A |
1: 38,839,791 (GRCm39) |
M435L |
probably benign |
Het |
Map2 |
A |
T |
1: 66,419,876 (GRCm39) |
D69V |
possibly damaging |
Het |
Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
Myh3 |
C |
T |
11: 66,978,371 (GRCm39) |
P453S |
probably benign |
Het |
Or51d1 |
T |
A |
7: 102,348,291 (GRCm39) |
V282D |
possibly damaging |
Het |
Pi4k2b |
T |
C |
5: 52,925,081 (GRCm39) |
F442L |
probably damaging |
Het |
Pla2g12b |
T |
A |
10: 59,252,275 (GRCm39) |
C49S |
probably damaging |
Het |
Polr2a |
C |
T |
11: 69,630,293 (GRCm39) |
R1258Q |
probably benign |
Het |
Prmt8 |
A |
C |
6: 127,688,786 (GRCm39) |
S195A |
probably damaging |
Het |
Pwp1 |
T |
A |
10: 85,717,967 (GRCm39) |
|
probably null |
Het |
Rxfp1 |
C |
A |
3: 79,578,153 (GRCm39) |
|
probably null |
Het |
Skor1 |
A |
T |
9: 63,053,159 (GRCm39) |
M270K |
probably damaging |
Het |
Slc12a4 |
T |
C |
8: 106,676,438 (GRCm39) |
N495D |
possibly damaging |
Het |
Slc26a3 |
T |
C |
12: 31,507,095 (GRCm39) |
V350A |
probably damaging |
Het |
Slc44a4 |
T |
A |
17: 35,147,463 (GRCm39) |
V430D |
probably damaging |
Het |
Slit2 |
C |
A |
5: 48,461,565 (GRCm39) |
C1537* |
probably null |
Het |
Tas2r135 |
A |
T |
6: 42,383,214 (GRCm39) |
H251L |
probably damaging |
Het |
Tbr1 |
T |
C |
2: 61,642,042 (GRCm39) |
F436L |
probably benign |
Het |
Them6 |
A |
T |
15: 74,593,504 (GRCm39) |
T121S |
possibly damaging |
Het |
Tmem145 |
G |
A |
7: 25,007,657 (GRCm39) |
M221I |
probably benign |
Het |
Trrap |
T |
C |
5: 144,761,360 (GRCm39) |
V2300A |
probably benign |
Het |
Usf3 |
C |
A |
16: 44,040,674 (GRCm39) |
A1718D |
possibly damaging |
Het |
Usp10 |
C |
A |
8: 120,675,514 (GRCm39) |
S511Y |
probably damaging |
Het |
Wnt9a |
T |
C |
11: 59,219,331 (GRCm39) |
F119S |
probably damaging |
Het |
Zc3h7b |
G |
A |
15: 81,677,338 (GRCm39) |
G880S |
probably benign |
Het |
|
Other mutations in Wdr38 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01549:Wdr38
|
APN |
2 |
38,890,730 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02019:Wdr38
|
APN |
2 |
38,888,424 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02020:Wdr38
|
APN |
2 |
38,888,424 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02137:Wdr38
|
APN |
2 |
38,888,424 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02138:Wdr38
|
APN |
2 |
38,888,424 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02172:Wdr38
|
APN |
2 |
38,888,424 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02178:Wdr38
|
APN |
2 |
38,888,424 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02422:Wdr38
|
APN |
2 |
38,888,424 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02423:Wdr38
|
APN |
2 |
38,888,424 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02525:Wdr38
|
APN |
2 |
38,888,424 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02621:Wdr38
|
APN |
2 |
38,888,424 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02623:Wdr38
|
APN |
2 |
38,888,424 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02624:Wdr38
|
APN |
2 |
38,888,424 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02625:Wdr38
|
APN |
2 |
38,888,424 (GRCm39) |
missense |
probably damaging |
0.97 |
PIT4696001:Wdr38
|
UTSW |
2 |
38,889,984 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1473:Wdr38
|
UTSW |
2 |
38,890,991 (GRCm39) |
missense |
probably benign |
0.03 |
R1794:Wdr38
|
UTSW |
2 |
38,890,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R3964:Wdr38
|
UTSW |
2 |
38,889,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R6005:Wdr38
|
UTSW |
2 |
38,891,333 (GRCm39) |
missense |
possibly damaging |
0.57 |
R6432:Wdr38
|
UTSW |
2 |
38,890,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R6513:Wdr38
|
UTSW |
2 |
38,889,970 (GRCm39) |
splice site |
probably null |
|
R7266:Wdr38
|
UTSW |
2 |
38,890,276 (GRCm39) |
missense |
probably damaging |
1.00 |
R7454:Wdr38
|
UTSW |
2 |
38,888,352 (GRCm39) |
start gained |
probably benign |
|
R7834:Wdr38
|
UTSW |
2 |
38,890,196 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8333:Wdr38
|
UTSW |
2 |
38,889,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R9542:Wdr38
|
UTSW |
2 |
38,890,210 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2015-04-16 |