Incidental Mutation 'IGL02624:Wdr38'
ID |
300984 |
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 # |
IGL02624
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930004D18Rik |
A |
G |
2: 18,032,004 (GRCm39) |
V38A |
unknown |
Het |
Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
Brk1 |
T |
G |
6: 113,581,805 (GRCm39) |
I22M |
possibly damaging |
Het |
Cd3g |
A |
G |
9: 44,885,459 (GRCm39) |
|
probably null |
Het |
Cep192 |
T |
C |
18: 68,013,866 (GRCm39) |
V2422A |
probably benign |
Het |
Ces2g |
T |
C |
8: 105,691,380 (GRCm39) |
V172A |
probably damaging |
Het |
Clcn2 |
G |
T |
16: 20,522,098 (GRCm39) |
S830R |
probably damaging |
Het |
Cyp26b1 |
T |
C |
6: 84,561,321 (GRCm39) |
S114G |
probably benign |
Het |
Dnali1 |
T |
C |
4: 124,952,791 (GRCm39) |
Q244R |
probably benign |
Het |
Entpd1 |
A |
T |
19: 40,714,502 (GRCm39) |
K204* |
probably null |
Het |
Gm5070 |
A |
G |
3: 95,318,219 (GRCm39) |
|
noncoding transcript |
Het |
Gpsm2 |
G |
T |
3: 108,589,349 (GRCm39) |
D596E |
probably benign |
Het |
Hectd1 |
C |
T |
12: 51,809,233 (GRCm39) |
A1743T |
possibly damaging |
Het |
Kcnq5 |
T |
G |
1: 21,472,654 (GRCm39) |
L845F |
probably benign |
Het |
Lmx1a |
G |
T |
1: 167,672,192 (GRCm39) |
|
probably benign |
Het |
Lrp1 |
A |
T |
10: 127,408,291 (GRCm39) |
I1795N |
probably damaging |
Het |
Lsp1 |
C |
T |
7: 142,044,288 (GRCm39) |
|
probably benign |
Het |
Mcm6 |
C |
T |
1: 128,277,185 (GRCm39) |
A213T |
possibly damaging |
Het |
Mylk |
G |
T |
16: 34,750,266 (GRCm39) |
V1202L |
probably benign |
Het |
Myo5b |
T |
C |
18: 74,848,010 (GRCm39) |
Y1083H |
probably damaging |
Het |
Ncoa5 |
T |
A |
2: 164,854,981 (GRCm39) |
D47V |
probably damaging |
Het |
Npat |
C |
T |
9: 53,478,110 (GRCm39) |
T954I |
probably damaging |
Het |
Or2b28 |
A |
G |
13: 21,531,682 (GRCm39) |
T195A |
probably benign |
Het |
Or5p1 |
A |
T |
7: 107,916,130 (GRCm39) |
T10S |
probably benign |
Het |
Pfkm |
T |
C |
15: 98,024,276 (GRCm39) |
I428T |
probably benign |
Het |
Rai1 |
T |
C |
11: 60,079,569 (GRCm39) |
F1211S |
probably damaging |
Het |
Reln |
T |
C |
5: 22,308,355 (GRCm39) |
E338G |
probably benign |
Het |
Tbx18 |
T |
C |
9: 87,609,459 (GRCm39) |
Y192C |
probably damaging |
Het |
Tex21 |
T |
A |
12: 76,261,398 (GRCm39) |
D250V |
probably damaging |
Het |
Tpo |
A |
G |
12: 30,150,413 (GRCm39) |
V489A |
probably benign |
Het |
Tspo |
T |
C |
15: 83,455,616 (GRCm39) |
M1T |
probably null |
Het |
Wnk2 |
C |
T |
13: 49,256,278 (GRCm39) |
G281D |
probably damaging |
Het |
Zfhx2 |
T |
C |
14: 55,304,085 (GRCm39) |
T1300A |
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 |
IGL02526: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 |
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 |