Incidental Mutation 'IGL02137:Wdr38'
ID |
281363 |
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 # |
IGL02137
|
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 |
4930595M18Rik |
T |
C |
X: 80,501,262 (GRCm39) |
D116G |
probably benign |
Het |
Acp2 |
G |
T |
2: 91,034,028 (GRCm39) |
G66V |
probably damaging |
Het |
Adam32 |
C |
T |
8: 25,362,610 (GRCm39) |
G605D |
probably damaging |
Het |
Adam4 |
T |
C |
12: 81,467,877 (GRCm39) |
D248G |
possibly damaging |
Het |
Adamts15 |
C |
A |
9: 30,821,956 (GRCm39) |
G494W |
probably damaging |
Het |
Arfgef1 |
A |
T |
1: 10,283,338 (GRCm39) |
N190K |
probably damaging |
Het |
Bach2 |
C |
T |
4: 32,501,621 (GRCm39) |
|
probably benign |
Het |
Bloc1s1 |
T |
C |
10: 128,758,517 (GRCm39) |
|
probably benign |
Het |
Casz1 |
G |
T |
4: 149,017,925 (GRCm39) |
A405S |
possibly damaging |
Het |
Cplx4 |
T |
C |
18: 66,090,125 (GRCm39) |
D98G |
probably benign |
Het |
Dync2h1 |
T |
C |
9: 7,134,349 (GRCm39) |
N1553D |
probably benign |
Het |
Erich5 |
G |
A |
15: 34,470,900 (GRCm39) |
C43Y |
probably damaging |
Het |
Exosc10 |
A |
C |
4: 148,645,590 (GRCm39) |
R123S |
probably damaging |
Het |
Hoatz |
T |
C |
9: 50,997,408 (GRCm39) |
|
probably benign |
Het |
Inpp5f |
T |
C |
7: 128,296,853 (GRCm39) |
V377A |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,620,700 (GRCm39) |
|
probably benign |
Het |
Mrps17 |
G |
A |
5: 129,793,847 (GRCm39) |
V14M |
probably benign |
Het |
Mtrr |
G |
A |
13: 68,716,920 (GRCm39) |
S431F |
possibly damaging |
Het |
Myo5a |
T |
C |
9: 75,068,817 (GRCm39) |
|
probably null |
Het |
Nsfl1c |
T |
A |
2: 151,351,509 (GRCm39) |
I291N |
probably damaging |
Het |
Ntsr1 |
T |
A |
2: 180,180,628 (GRCm39) |
|
probably null |
Het |
Or4n4 |
T |
C |
14: 50,519,135 (GRCm39) |
T192A |
probably benign |
Het |
Park7 |
T |
C |
4: 150,988,288 (GRCm39) |
I102M |
probably benign |
Het |
Pik3c2a |
T |
A |
7: 115,950,039 (GRCm39) |
Q1326L |
probably benign |
Het |
Rapgef3 |
T |
C |
15: 97,648,025 (GRCm39) |
D693G |
probably benign |
Het |
Rep15 |
G |
A |
6: 146,934,845 (GRCm39) |
R228H |
probably benign |
Het |
Slc25a1 |
A |
G |
16: 17,745,234 (GRCm39) |
V100A |
probably benign |
Het |
Slc9a4 |
T |
C |
1: 40,640,059 (GRCm39) |
F284L |
possibly damaging |
Het |
Sox10 |
G |
T |
15: 79,043,393 (GRCm39) |
D52E |
probably benign |
Het |
St3gal5 |
C |
A |
6: 72,105,266 (GRCm39) |
T6N |
probably benign |
Het |
Tbc1d22a |
A |
G |
15: 86,183,870 (GRCm39) |
D243G |
probably benign |
Het |
Tll1 |
T |
C |
8: 64,469,132 (GRCm39) |
Y997C |
possibly damaging |
Het |
Tmem8b |
A |
T |
4: 43,689,434 (GRCm39) |
H276L |
probably benign |
Het |
Tnpo3 |
T |
C |
6: 29,609,450 (GRCm39) |
Y12C |
probably damaging |
Het |
Tns3 |
A |
T |
11: 8,442,578 (GRCm39) |
M595K |
possibly damaging |
Het |
Trav18 |
T |
A |
14: 54,069,192 (GRCm39) |
M78K |
probably benign |
Het |
Uba7 |
A |
G |
9: 107,856,952 (GRCm39) |
|
probably benign |
Het |
Vmn1r167 |
A |
T |
7: 23,204,864 (GRCm39) |
S51T |
probably damaging |
Het |
Vmn1r83 |
A |
T |
7: 12,055,761 (GRCm39) |
Y99N |
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 |
IGL02020: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 |
2015-04-16 |