Incidental Mutation 'IGL02020:Wdr38'
| ID |
183931 |
| 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 # |
IGL02020
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
A |
T |
8: 84,659,577 (GRCm39) |
Q711L |
probably benign |
Het |
| Atg9b |
A |
C |
5: 24,596,056 (GRCm39) |
N205K |
possibly damaging |
Het |
| Brinp3 |
T |
C |
1: 146,777,865 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
A |
G |
1: 110,066,078 (GRCm39) |
Y784C |
probably damaging |
Het |
| Csmd2 |
T |
A |
4: 128,453,672 (GRCm39) |
D142E |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,517,269 (GRCm39) |
L880P |
probably damaging |
Het |
| Gm14496 |
A |
G |
2: 181,637,882 (GRCm39) |
T319A |
possibly damaging |
Het |
| Hr |
A |
G |
14: 70,793,877 (GRCm39) |
T46A |
probably benign |
Het |
| Ighv1-7 |
A |
G |
12: 114,502,345 (GRCm39) |
C41R |
probably damaging |
Het |
| Itga3 |
C |
T |
11: 94,948,216 (GRCm39) |
V539I |
probably benign |
Het |
| Kif13a |
T |
A |
13: 46,947,495 (GRCm39) |
I830F |
probably benign |
Het |
| Mphosph9 |
T |
C |
5: 124,397,013 (GRCm39) |
N1110S |
probably damaging |
Het |
| Or5m11b |
A |
G |
2: 85,805,579 (GRCm39) |
|
probably benign |
Het |
| Pdia3 |
G |
A |
2: 121,266,900 (GRCm39) |
|
probably null |
Het |
| Phpt1 |
T |
C |
2: 25,464,221 (GRCm39) |
I87M |
probably damaging |
Het |
| Psd3 |
T |
C |
8: 68,426,822 (GRCm39) |
|
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,315,769 (GRCm39) |
E2163G |
probably damaging |
Het |
| Ranbp6 |
T |
C |
19: 29,787,176 (GRCm39) |
I1059V |
probably benign |
Het |
| Runx2 |
C |
T |
17: 44,969,486 (GRCm39) |
G253D |
probably damaging |
Het |
| S100a5 |
A |
G |
3: 90,517,121 (GRCm39) |
|
probably benign |
Het |
| Skint1 |
T |
A |
4: 111,882,724 (GRCm39) |
M256K |
probably benign |
Het |
| Slc9a3 |
C |
T |
13: 74,306,967 (GRCm39) |
A364V |
probably damaging |
Het |
| Srsf3-ps |
C |
A |
11: 98,516,335 (GRCm39) |
V13L |
probably damaging |
Het |
| Trip11 |
C |
T |
12: 101,850,572 (GRCm39) |
R879Q |
probably damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,687,780 (GRCm39) |
T588A |
possibly damaging |
Het |
| Vmn2r100 |
T |
A |
17: 19,725,200 (GRCm39) |
V43E |
possibly damaging |
Het |
| Washc4 |
T |
C |
10: 83,400,336 (GRCm39) |
S421P |
probably damaging |
Het |
| Wwp2 |
G |
A |
8: 108,283,127 (GRCm39) |
R354Q |
probably damaging |
Het |
| Zfp804b |
T |
A |
5: 6,819,118 (GRCm39) |
Q1315L |
probably damaging |
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation