Incidental Mutation 'R5016:Wdr3'
| ID |
385561 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr3
|
| Ensembl Gene |
ENSMUSG00000033285 |
| Gene Name |
WD repeat domain 3 |
| Synonyms |
D030020G18Rik |
| MMRRC Submission |
042607-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
R5016 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
100045496-100069723 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to T
at 100048936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134066
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052120]
[ENSMUST00000164539]
|
| AlphaFold |
Q8BHB4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052120
|
| SMART Domains |
Protein: ENSMUSP00000060613
Gene: ENSMUSG00000033285
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.2%
- 10x: 95.1%
- 20x: 91.0%
|
| Validation Efficiency |
97% (56/58) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,491,631 (GRCm39) |
P768S |
probably damaging |
Het |
| Adprhl1 |
A |
G |
8: 13,274,889 (GRCm39) |
L623P |
possibly damaging |
Het |
| Anapc1 |
A |
T |
2: 128,449,095 (GRCm39) |
|
probably benign |
Het |
| Ankzf1 |
C |
A |
1: 75,172,622 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
A |
G |
3: 88,889,630 (GRCm39) |
D503G |
probably damaging |
Het |
| Atp7b |
T |
C |
8: 22,505,885 (GRCm39) |
|
probably null |
Het |
| Bach1 |
T |
A |
16: 87,516,206 (GRCm39) |
V249D |
possibly damaging |
Het |
| Ccdc158 |
A |
G |
5: 92,805,751 (GRCm39) |
S335P |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,733,254 (GRCm39) |
C1374* |
probably null |
Het |
| Col16a1 |
C |
T |
4: 129,972,988 (GRCm39) |
T643M |
probably benign |
Het |
| Cygb |
A |
G |
11: 116,540,840 (GRCm39) |
F49L |
probably benign |
Het |
| Dnah17 |
G |
C |
11: 117,971,592 (GRCm39) |
T2147S |
probably damaging |
Het |
| Drd3 |
C |
A |
16: 43,582,609 (GRCm39) |
A34E |
possibly damaging |
Het |
| Ephb6 |
G |
A |
6: 41,595,041 (GRCm39) |
R685Q |
probably benign |
Het |
| Ezh1 |
G |
A |
11: 101,090,063 (GRCm39) |
|
probably benign |
Het |
| Gpr19 |
T |
A |
6: 134,846,880 (GRCm39) |
K231* |
probably null |
Het |
| Gpr61 |
A |
G |
3: 108,057,983 (GRCm39) |
V226A |
possibly damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Hnrnpul2 |
A |
G |
19: 8,800,189 (GRCm39) |
K185R |
possibly damaging |
Het |
| Igsf9 |
A |
C |
1: 172,318,279 (GRCm39) |
T140P |
probably damaging |
Het |
| Ksr2 |
A |
G |
5: 117,638,857 (GRCm39) |
D87G |
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,744,250 (GRCm39) |
E843G |
probably damaging |
Het |
| Ltbp4 |
GT |
G |
7: 27,027,110 (GRCm39) |
|
probably null |
Het |
| Luc7l2 |
A |
G |
6: 38,562,036 (GRCm39) |
I20V |
possibly damaging |
Het |
| Mcm6 |
G |
A |
1: 128,271,164 (GRCm39) |
T485M |
probably damaging |
Het |
| Miox |
A |
G |
15: 89,219,767 (GRCm39) |
D85G |
probably null |
Het |
| Nudt18 |
T |
C |
14: 70,816,903 (GRCm39) |
F169S |
probably benign |
Het |
| Nxpe4 |
A |
G |
9: 48,304,185 (GRCm39) |
N91D |
probably benign |
Het |
| Or13c7 |
T |
C |
4: 43,854,596 (GRCm39) |
S96P |
probably benign |
Het |
| Or6c215 |
A |
G |
10: 129,637,662 (GRCm39) |
V244A |
probably benign |
Het |
| Or8k39 |
T |
G |
2: 86,563,090 (GRCm39) |
I289L |
probably benign |
Het |
| Pdss2 |
G |
T |
10: 43,098,001 (GRCm39) |
A82S |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,726,070 (GRCm39) |
D998G |
probably damaging |
Het |
| Rasd2 |
C |
A |
8: 75,948,603 (GRCm39) |
N176K |
probably damaging |
Het |
| Serpinb3a |
A |
G |
1: 106,974,060 (GRCm39) |
F284L |
probably damaging |
Het |
| Skint6 |
T |
A |
4: 113,028,730 (GRCm39) |
|
probably null |
Het |
| Slc12a6 |
C |
T |
2: 112,186,972 (GRCm39) |
|
probably benign |
Het |
| Slc22a19 |
G |
A |
19: 7,651,737 (GRCm39) |
T490M |
probably benign |
Het |
| Sp2 |
A |
T |
11: 96,846,658 (GRCm39) |
C562S |
probably damaging |
Het |
| Specc1 |
A |
G |
11: 62,009,783 (GRCm39) |
E433G |
possibly damaging |
Het |
| Sspo |
C |
T |
6: 48,429,214 (GRCm39) |
Q451* |
probably null |
Het |
| St6galnac1 |
A |
T |
11: 116,656,706 (GRCm39) |
S478T |
probably damaging |
Het |
| Steap4 |
C |
T |
5: 8,026,699 (GRCm39) |
R221* |
probably null |
Het |
| Ugt1a5 |
C |
G |
1: 88,093,963 (GRCm39) |
R64G |
probably benign |
Het |
| Vmn1r202 |
A |
T |
13: 22,686,375 (GRCm39) |
F14Y |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,686,548 (GRCm39) |
V643A |
probably benign |
Het |
| Vmn2r91 |
C |
A |
17: 18,330,322 (GRCm39) |
Y535* |
probably null |
Het |
| Wdr95 |
T |
C |
5: 149,468,266 (GRCm39) |
M41T |
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 |
|
IGL02136:Wdr3
|
APN |
3 |
100,046,041 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCTTCTGAGAGCTGGTATTTG -3'
(R):5'- AGGCCCAGCTTACAAGGAAG -3'
Sequencing Primer
(F):5'- CTGAGAGCTGGTATTTGATTGACATC -3'
(R):5'- CCCAGCTTACAAGGAAGTGTAGTC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation