Incidental Mutation 'IGL01549:Wdr38'
ID |
90549 |
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 # |
IGL01549
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
38888287-38891600 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 38890730 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 201
(S201R)
|
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: S201R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043834 Gene: ENSMUSG00000035295 AA Change: S201R
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: S201R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108493 Gene: ENSMUSG00000035295 AA Change: S201R
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: ENSMUST00000126246
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141133
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141467
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152441
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503L19Rik |
C |
T |
18: 70,601,106 (GRCm39) |
V259I |
possibly damaging |
Het |
Abhd4 |
C |
T |
14: 54,504,589 (GRCm39) |
T273I |
probably damaging |
Het |
Adamtsl3 |
T |
C |
7: 82,261,656 (GRCm39) |
S1691P |
probably damaging |
Het |
Anapc1 |
A |
G |
2: 128,495,090 (GRCm39) |
S901P |
probably benign |
Het |
Ank3 |
C |
T |
10: 69,768,250 (GRCm39) |
S56F |
probably damaging |
Het |
Ccdc74a |
A |
G |
16: 17,468,406 (GRCm39) |
S343G |
probably benign |
Het |
Clec7a |
A |
T |
6: 129,449,640 (GRCm39) |
Y3* |
probably null |
Het |
Il6 |
A |
G |
5: 30,224,469 (GRCm39) |
T170A |
probably benign |
Het |
Itgax |
C |
A |
7: 127,730,378 (GRCm39) |
|
probably null |
Het |
Lrrc17 |
A |
T |
5: 21,775,288 (GRCm39) |
R283S |
probably benign |
Het |
Muc1 |
C |
T |
3: 89,139,117 (GRCm39) |
P533S |
probably damaging |
Het |
Or10j5 |
T |
C |
1: 172,784,541 (GRCm39) |
Y60H |
probably damaging |
Het |
Or13n4 |
T |
C |
7: 106,423,236 (GRCm39) |
I166V |
probably benign |
Het |
Or4c121 |
C |
T |
2: 89,024,133 (GRCm39) |
V82I |
probably benign |
Het |
Or4d10c |
T |
A |
19: 12,065,329 (GRCm39) |
I276F |
probably benign |
Het |
Or8k37 |
A |
C |
2: 86,469,705 (GRCm39) |
S116A |
probably benign |
Het |
Or8k37 |
T |
C |
2: 86,469,876 (GRCm39) |
M59V |
possibly damaging |
Het |
Pcnt |
A |
C |
10: 76,203,320 (GRCm39) |
|
probably null |
Het |
Pde4b |
A |
T |
4: 102,462,265 (GRCm39) |
D647V |
probably damaging |
Het |
Phldb2 |
T |
C |
16: 45,594,681 (GRCm39) |
M875V |
probably benign |
Het |
Prkar2b |
T |
C |
12: 32,111,071 (GRCm39) |
E4G |
possibly damaging |
Het |
Rab2a |
C |
A |
4: 8,582,393 (GRCm39) |
S125Y |
probably benign |
Het |
Samm50 |
A |
G |
15: 84,086,982 (GRCm39) |
I264V |
probably benign |
Het |
Sgsh |
C |
T |
11: 119,241,755 (GRCm39) |
A90T |
probably damaging |
Het |
Tap2 |
A |
G |
17: 34,433,303 (GRCm39) |
T489A |
probably benign |
Het |
Zfhx4 |
A |
G |
3: 5,464,522 (GRCm39) |
D1560G |
probably damaging |
Het |
Zfp462 |
A |
G |
4: 55,013,181 (GRCm39) |
T568A |
probably damaging |
Het |
|
Other mutations in Wdr38 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-12-09 |