Incidental Mutation 'R6899:Wdr3'
| ID |
541006 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr3
|
| Ensembl Gene |
ENSMUSG00000033285 |
| Gene Name |
WD repeat domain 3 |
| Synonyms |
D030020G18Rik |
| MMRRC Submission |
044993-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
R6899 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
100045496-100069723 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100057217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 462
(V462D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052120]
|
| AlphaFold |
Q8BHB4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052120
AA Change: V462D
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000060613
Gene: ENSMUSG00000033285
AA Change: V462D
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.0%
- 20x: 95.9%
|
| Validation Efficiency |
98% (56/57) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,126,264 (GRCm39) |
Y1140C |
probably damaging |
Het |
| Actl9 |
G |
A |
17: 33,652,533 (GRCm39) |
G198S |
probably damaging |
Het |
| Adcy2 |
A |
T |
13: 69,130,500 (GRCm39) |
M129K |
probably damaging |
Het |
| Apmap |
T |
A |
2: 150,436,228 (GRCm39) |
I107F |
probably benign |
Het |
| Arrdc3 |
T |
C |
13: 81,037,330 (GRCm39) |
I162T |
probably damaging |
Het |
| Asprv1 |
T |
C |
6: 86,605,742 (GRCm39) |
L196P |
probably damaging |
Het |
| Atpsckmt |
A |
G |
15: 31,617,257 (GRCm39) |
S163G |
probably benign |
Het |
| Bag2 |
A |
G |
1: 33,785,912 (GRCm39) |
S137P |
possibly damaging |
Het |
| Borcs5 |
T |
A |
6: 134,687,173 (GRCm39) |
M177K |
probably benign |
Het |
| C8b |
A |
T |
4: 104,644,071 (GRCm39) |
K246M |
probably benign |
Het |
| Cdo1 |
A |
G |
18: 46,856,407 (GRCm39) |
C76R |
probably damaging |
Het |
| Ces2b |
T |
A |
8: 105,563,398 (GRCm39) |
|
probably null |
Het |
| Csf2rb |
G |
A |
15: 78,224,902 (GRCm39) |
S194N |
probably benign |
Het |
| Dap3 |
A |
G |
3: 88,840,907 (GRCm39) |
F77L |
probably benign |
Het |
| Dars1 |
A |
G |
1: 128,341,483 (GRCm39) |
V44A |
possibly damaging |
Het |
| Dhtkd1 |
T |
A |
2: 5,922,776 (GRCm39) |
D461V |
possibly damaging |
Het |
| Ero1a |
A |
C |
14: 45,530,396 (GRCm39) |
H345Q |
probably benign |
Het |
| Fzd8 |
T |
A |
18: 9,214,729 (GRCm39) |
S604T |
probably damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Gramd1c |
T |
A |
16: 43,860,505 (GRCm39) |
Y64F |
probably benign |
Het |
| Heatr5b |
T |
A |
17: 79,110,938 (GRCm39) |
Y970F |
probably benign |
Het |
| Hoxc10 |
A |
G |
15: 102,875,942 (GRCm39) |
E217G |
possibly damaging |
Het |
| Hsd17b14 |
A |
T |
7: 45,212,352 (GRCm39) |
H128L |
possibly damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ifna9 |
A |
G |
4: 88,510,300 (GRCm39) |
F108S |
probably damaging |
Het |
| Ikbke |
A |
G |
1: 131,203,499 (GRCm39) |
V58A |
probably damaging |
Het |
| Inpp5e |
G |
A |
2: 26,290,060 (GRCm39) |
R462C |
possibly damaging |
Het |
| Junb |
A |
G |
8: 85,704,353 (GRCm39) |
F236L |
probably benign |
Het |
| Klhl36 |
T |
C |
8: 120,596,881 (GRCm39) |
V194A |
probably benign |
Het |
| Lsg1 |
A |
T |
16: 30,400,906 (GRCm39) |
D134E |
probably benign |
Het |
| Megf8 |
G |
T |
7: 25,060,138 (GRCm39) |
C2343F |
probably damaging |
Het |
| Mtres1 |
T |
C |
10: 43,408,780 (GRCm39) |
E121G |
possibly damaging |
Het |
| Myom3 |
G |
A |
4: 135,530,603 (GRCm39) |
G1172R |
probably damaging |
Het |
| Nasp |
A |
T |
4: 116,461,530 (GRCm39) |
V548E |
probably damaging |
Het |
| Nubpl |
T |
A |
12: 52,357,536 (GRCm39) |
S317T |
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,075,204 (GRCm39) |
D838G |
possibly damaging |
Het |
| Oxsr1 |
C |
T |
9: 119,076,188 (GRCm39) |
A373T |
probably benign |
Het |
| Psat1 |
C |
T |
19: 15,895,569 (GRCm39) |
|
probably null |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Slain1 |
C |
T |
14: 103,888,215 (GRCm39) |
P45L |
possibly damaging |
Het |
| Slc16a8 |
A |
G |
15: 79,137,949 (GRCm39) |
V20A |
possibly damaging |
Het |
| Slc22a13 |
A |
T |
9: 119,025,473 (GRCm39) |
M145K |
probably damaging |
Het |
| Slc22a4 |
G |
A |
11: 53,879,739 (GRCm39) |
T440I |
probably damaging |
Het |
| Slc39a12 |
C |
T |
2: 14,394,352 (GRCm39) |
P74L |
probably damaging |
Het |
| Sod3 |
A |
G |
5: 52,526,050 (GRCm39) |
T250A |
unknown |
Het |
| Syne2 |
A |
G |
12: 76,142,503 (GRCm39) |
|
probably null |
Het |
| Tctn1 |
A |
G |
5: 122,387,019 (GRCm39) |
Y299H |
probably damaging |
Het |
| Tfcp2l1 |
A |
G |
1: 118,603,305 (GRCm39) |
M448V |
probably benign |
Het |
| Tfpi |
C |
T |
2: 84,275,153 (GRCm39) |
G152S |
probably damaging |
Het |
| Thap4 |
A |
G |
1: 93,678,691 (GRCm39) |
S32P |
probably damaging |
Het |
| Tmem132c |
T |
A |
5: 127,628,744 (GRCm39) |
W549R |
probably damaging |
Het |
| Vmn2r29 |
T |
C |
7: 7,244,641 (GRCm39) |
E411G |
probably damaging |
Het |
| Washc4 |
C |
A |
10: 83,411,919 (GRCm39) |
D683E |
probably benign |
Het |
| Wdr5b |
T |
C |
16: 35,862,150 (GRCm39) |
S90P |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,579,559 (GRCm39) |
L518P |
possibly damaging |
Het |
| Zfp53 |
A |
G |
17: 21,728,707 (GRCm39) |
I247V |
possibly damaging |
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 |
|
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 |
|
|
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'- TGATGGCAGTTACCTCTGTAC -3'
(R):5'- TCCTCTTGACTGAGATAAATGTGAGG -3'
Sequencing Primer
(F):5'- TTGCCAATATGCCGTTAAA -3'
(R):5'- GGTAAAAGTTAGACATGTCTTGTGTC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation