Incidental Mutation 'IGL02136:Wdr3'
ID |
281340 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Wdr3
|
Ensembl Gene |
ENSMUSG00000033285 |
Gene Name |
WD repeat domain 3 |
Synonyms |
D030020G18Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.955)
|
Stock # |
IGL02136
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
100045496-100069723 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 100046041 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 931
(R931*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060613
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052120]
[ENSMUST00000164539]
|
AlphaFold |
Q8BHB4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000052120
AA Change: R931*
|
SMART Domains |
Protein: ENSMUSP00000060613 Gene: ENSMUSG00000033285 AA Change: R931*
Domain | Start | End | E-Value | Type |
Blast:WD40
|
12 |
51 |
3e-16 |
BLAST |
WD40
|
54 |
93 |
3.14e-6 |
SMART |
WD40
|
96 |
135 |
1.04e-6 |
SMART |
WD40
|
138 |
177 |
1.15e-4 |
SMART |
WD40
|
180 |
219 |
4.24e-3 |
SMART |
low complexity region
|
225 |
239 |
N/A |
INTRINSIC |
Blast:WD40
|
267 |
307 |
3e-18 |
BLAST |
low complexity region
|
316 |
331 |
N/A |
INTRINSIC |
WD40
|
403 |
441 |
8.49e-3 |
SMART |
WD40
|
444 |
481 |
1.71e1 |
SMART |
WD40
|
484 |
523 |
2.1e-7 |
SMART |
WD40
|
538 |
576 |
1.2e-2 |
SMART |
WD40
|
579 |
618 |
2.45e-8 |
SMART |
WD40
|
621 |
660 |
5.47e-6 |
SMART |
WD40
|
663 |
702 |
1.03e-10 |
SMART |
low complexity region
|
711 |
724 |
N/A |
INTRINSIC |
Pfam:Utp12
|
803 |
906 |
6.4e-25 |
PFAM |
low complexity region
|
927 |
936 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129319
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135812
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146989
|
SMART Domains |
Protein: ENSMUSP00000134945 Gene: ENSMUSG00000033285
Domain | Start | End | E-Value | Type |
Blast:WD40
|
12 |
51 |
1e-18 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164539
|
SMART Domains |
Protein: ENSMUSP00000134066 Gene: ENSMUSG00000027867
Domain | Start | End | E-Value | Type |
low complexity region
|
155 |
170 |
N/A |
INTRINSIC |
low complexity region
|
384 |
400 |
N/A |
INTRINSIC |
low complexity region
|
876 |
887 |
N/A |
INTRINSIC |
coiled coil region
|
909 |
964 |
N/A |
INTRINSIC |
coiled coil region
|
1079 |
1120 |
N/A |
INTRINSIC |
low complexity region
|
1179 |
1190 |
N/A |
INTRINSIC |
low complexity region
|
1192 |
1205 |
N/A |
INTRINSIC |
low complexity region
|
1209 |
1220 |
N/A |
INTRINSIC |
low complexity region
|
1223 |
1238 |
N/A |
INTRINSIC |
low complexity region
|
1394 |
1405 |
N/A |
INTRINSIC |
low complexity region
|
1931 |
1942 |
N/A |
INTRINSIC |
Pfam:PapD-like
|
2171 |
2277 |
1.2e-15 |
PFAM |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein containing 10 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, which usually include a trp-asp at the C-terminal end. Proteins belonging to the WD repeat family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
G |
T |
1: 71,286,301 (GRCm39) |
T2511K |
probably damaging |
Het |
Acta2 |
T |
A |
19: 34,229,230 (GRCm39) |
D53V |
probably damaging |
Het |
Banf1 |
G |
A |
19: 5,415,098 (GRCm39) |
A71V |
probably benign |
Het |
Cacng5 |
A |
T |
11: 107,772,557 (GRCm39) |
I97N |
probably benign |
Het |
Clec14a |
T |
A |
12: 58,315,415 (GRCm39) |
E69V |
probably damaging |
Het |
Cracr2a |
T |
C |
6: 127,606,893 (GRCm39) |
|
probably benign |
Het |
Dysf |
A |
G |
6: 84,085,149 (GRCm39) |
R845G |
probably benign |
Het |
Dzip3 |
T |
C |
16: 48,747,945 (GRCm39) |
N949S |
possibly damaging |
Het |
Eprs1 |
T |
G |
1: 185,117,180 (GRCm39) |
W408G |
probably damaging |
Het |
Fgf14 |
G |
A |
14: 124,217,784 (GRCm39) |
P240S |
possibly damaging |
Het |
Fpgt |
G |
T |
3: 154,798,989 (GRCm39) |
A2E |
probably benign |
Het |
Galntl5 |
T |
A |
5: 25,425,060 (GRCm39) |
S392R |
probably benign |
Het |
Gatd1 |
A |
G |
7: 140,988,873 (GRCm39) |
*221Q |
probably null |
Het |
Gcsam |
T |
A |
16: 45,430,896 (GRCm39) |
M1K |
probably null |
Het |
Ksr2 |
A |
G |
5: 117,754,959 (GRCm39) |
N351S |
possibly damaging |
Het |
Map1a |
T |
C |
2: 121,130,693 (GRCm39) |
V503A |
probably damaging |
Het |
Myl12a |
T |
A |
17: 71,303,851 (GRCm39) |
K9* |
probably null |
Het |
Ncapg2 |
A |
T |
12: 116,424,203 (GRCm39) |
M1129L |
probably benign |
Het |
Or11g2 |
T |
C |
14: 50,855,708 (GRCm39) |
S10P |
possibly damaging |
Het |
Or8k41 |
T |
C |
2: 86,313,809 (GRCm39) |
I92M |
probably damaging |
Het |
Otof |
T |
C |
5: 30,531,336 (GRCm39) |
K1691E |
possibly damaging |
Het |
Pdk4 |
A |
T |
6: 5,486,715 (GRCm39) |
M353K |
probably damaging |
Het |
Pkhd1 |
A |
T |
1: 20,345,839 (GRCm39) |
W2730R |
probably damaging |
Het |
Pkn2 |
T |
A |
3: 142,559,351 (GRCm39) |
K58I |
probably damaging |
Het |
Plk5 |
T |
C |
10: 80,199,001 (GRCm39) |
|
probably null |
Het |
Prkcq |
T |
C |
2: 11,265,479 (GRCm39) |
F399L |
probably benign |
Het |
Ptprz1 |
G |
A |
6: 22,972,821 (GRCm39) |
V244M |
probably damaging |
Het |
Rpusd2 |
T |
C |
2: 118,868,659 (GRCm39) |
F361L |
probably damaging |
Het |
Rttn |
T |
A |
18: 89,064,252 (GRCm39) |
L1168I |
possibly damaging |
Het |
S100a9 |
T |
C |
3: 90,600,075 (GRCm39) |
H107R |
probably benign |
Het |
Serpinb3a |
T |
A |
1: 106,974,015 (GRCm39) |
M299L |
probably benign |
Het |
Slfn8 |
G |
A |
11: 82,894,291 (GRCm39) |
Q783* |
probably null |
Het |
Smc3 |
T |
C |
19: 53,624,147 (GRCm39) |
I721T |
probably benign |
Het |
Top2b |
C |
A |
14: 16,407,103 (GRCm38) |
|
probably benign |
Het |
Uvssa |
T |
A |
5: 33,549,192 (GRCm39) |
W351R |
probably damaging |
Het |
Vmn2r107 |
G |
T |
17: 20,595,168 (GRCm39) |
V574L |
probably benign |
Het |
|
Other mutations in Wdr3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00420:Wdr3
|
APN |
3 |
100,055,424 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00706:Wdr3
|
APN |
3 |
100,055,416 (GRCm39) |
unclassified |
probably benign |
|
IGL01391:Wdr3
|
APN |
3 |
100,054,105 (GRCm39) |
unclassified |
probably benign |
|
IGL02008:Wdr3
|
APN |
3 |
100,058,298 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02215:Wdr3
|
APN |
3 |
100,054,016 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02505:Wdr3
|
APN |
3 |
100,059,290 (GRCm39) |
missense |
probably benign |
|
IGL03412:Wdr3
|
APN |
3 |
100,059,293 (GRCm39) |
missense |
probably benign |
0.00 |
R0241:Wdr3
|
UTSW |
3 |
100,052,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R0241:Wdr3
|
UTSW |
3 |
100,052,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R0369:Wdr3
|
UTSW |
3 |
100,063,734 (GRCm39) |
nonsense |
probably null |
|
R0865:Wdr3
|
UTSW |
3 |
100,060,112 (GRCm39) |
unclassified |
probably benign |
|
R0966:Wdr3
|
UTSW |
3 |
100,068,385 (GRCm39) |
missense |
probably damaging |
0.99 |
R1168:Wdr3
|
UTSW |
3 |
100,049,535 (GRCm39) |
missense |
probably benign |
0.11 |
R1612:Wdr3
|
UTSW |
3 |
100,058,515 (GRCm39) |
splice site |
probably benign |
|
R1768:Wdr3
|
UTSW |
3 |
100,061,186 (GRCm39) |
missense |
probably benign |
|
R2060:Wdr3
|
UTSW |
3 |
100,067,213 (GRCm39) |
splice site |
probably null |
|
R3793:Wdr3
|
UTSW |
3 |
100,059,281 (GRCm39) |
missense |
probably benign |
0.02 |
R3888:Wdr3
|
UTSW |
3 |
100,061,222 (GRCm39) |
missense |
probably benign |
|
R4410:Wdr3
|
UTSW |
3 |
100,047,543 (GRCm39) |
missense |
probably benign |
|
R4596:Wdr3
|
UTSW |
3 |
100,060,183 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4609:Wdr3
|
UTSW |
3 |
100,047,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R4817:Wdr3
|
UTSW |
3 |
100,053,861 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5016:Wdr3
|
UTSW |
3 |
100,048,936 (GRCm39) |
intron |
probably benign |
|
R5024:Wdr3
|
UTSW |
3 |
100,062,252 (GRCm39) |
missense |
probably benign |
|
R5411:Wdr3
|
UTSW |
3 |
100,050,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R5430:Wdr3
|
UTSW |
3 |
100,064,643 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5902:Wdr3
|
UTSW |
3 |
100,051,807 (GRCm39) |
unclassified |
probably benign |
|
R6177:Wdr3
|
UTSW |
3 |
100,068,468 (GRCm39) |
missense |
probably damaging |
0.97 |
R6445:Wdr3
|
UTSW |
3 |
100,063,719 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6516:Wdr3
|
UTSW |
3 |
100,052,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R6624:Wdr3
|
UTSW |
3 |
100,051,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R6747:Wdr3
|
UTSW |
3 |
100,046,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R6813:Wdr3
|
UTSW |
3 |
100,046,041 (GRCm39) |
nonsense |
probably null |
|
R6899:Wdr3
|
UTSW |
3 |
100,057,217 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7024:Wdr3
|
UTSW |
3 |
100,062,313 (GRCm39) |
missense |
probably benign |
0.00 |
R7509:Wdr3
|
UTSW |
3 |
100,058,503 (GRCm39) |
missense |
probably benign |
0.03 |
R8008:Wdr3
|
UTSW |
3 |
100,062,252 (GRCm39) |
missense |
probably benign |
|
R8062:Wdr3
|
UTSW |
3 |
100,049,810 (GRCm39) |
missense |
probably benign |
|
R8241:Wdr3
|
UTSW |
3 |
100,057,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R8840:Wdr3
|
UTSW |
3 |
100,057,253 (GRCm39) |
missense |
probably damaging |
0.99 |
R8944:Wdr3
|
UTSW |
3 |
100,057,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R9235:Wdr3
|
UTSW |
3 |
100,054,023 (GRCm39) |
missense |
probably benign |
0.18 |
R9314:Wdr3
|
UTSW |
3 |
100,050,288 (GRCm39) |
missense |
probably benign |
0.00 |
R9544:Wdr3
|
UTSW |
3 |
100,050,752 (GRCm39) |
nonsense |
probably null |
|
X0012:Wdr3
|
UTSW |
3 |
100,052,946 (GRCm39) |
splice site |
probably null |
|
Z1088:Wdr3
|
UTSW |
3 |
100,051,660 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2015-04-16 |