Incidental Mutation 'R7024:Wdr3'
| ID |
545829 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr3
|
| Ensembl Gene |
ENSMUSG00000033285 |
| Gene Name |
WD repeat domain 3 |
| Synonyms |
D030020G18Rik |
| MMRRC Submission |
045125-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
R7024 (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 G
at 100062313 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 201
(S201P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052120]
[ENSMUST00000125059]
[ENSMUST00000197602]
|
| AlphaFold |
Q8BHB4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052120
AA Change: S201P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000060613
Gene: ENSMUSG00000033285
AA Change: S201P
| 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 |
probably benign
Transcript: ENSMUST00000125059
|
| SMART Domains |
Protein: ENSMUSP00000135731
Gene: ENSMUSG00000033285
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
12 |
51 |
2e-18 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197602
|
| SMART Domains |
Protein: ENSMUSP00000143010
Gene: ENSMUSG00000033285
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
12 |
51 |
1e-18 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (61/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310079G19Rik |
A |
G |
16: 88,424,108 (GRCm39) |
S128P |
probably damaging |
Het |
| Abcc1 |
G |
C |
16: 14,231,247 (GRCm39) |
|
probably null |
Het |
| Atg2a |
G |
A |
19: 6,300,249 (GRCm39) |
G686S |
possibly damaging |
Het |
| Atrnl1 |
A |
T |
19: 57,626,882 (GRCm39) |
|
probably null |
Het |
| Brd4 |
T |
C |
17: 32,440,884 (GRCm39) |
|
probably benign |
Het |
| Camsap3 |
A |
G |
8: 3,658,242 (GRCm39) |
E688G |
probably damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,891,271 (GRCm39) |
S1402R |
probably benign |
Het |
| Ccnb1 |
A |
G |
13: 100,922,888 (GRCm39) |
|
probably null |
Het |
| Cdc42bpb |
G |
A |
12: 111,292,519 (GRCm39) |
H339Y |
probably damaging |
Het |
| Ciart |
T |
A |
3: 95,786,392 (GRCm39) |
T94S |
probably benign |
Het |
| Col6a5 |
T |
A |
9: 105,789,674 (GRCm39) |
K1540* |
probably null |
Het |
| Csmd3 |
A |
T |
15: 47,574,387 (GRCm39) |
V1969E |
probably damaging |
Het |
| Dgka |
T |
G |
10: 128,556,356 (GRCm39) |
N710T |
probably damaging |
Het |
| Dock6 |
A |
G |
9: 21,731,666 (GRCm39) |
V1212A |
probably benign |
Het |
| Dync2i2 |
A |
G |
2: 29,928,278 (GRCm39) |
V116A |
possibly damaging |
Het |
| En1 |
C |
T |
1: 120,531,051 (GRCm39) |
P97L |
unknown |
Het |
| Esd |
T |
A |
14: 74,982,102 (GRCm39) |
F172L |
probably damaging |
Het |
| Gfer |
C |
A |
17: 24,914,942 (GRCm39) |
D34Y |
probably damaging |
Het |
| Gm2832 |
G |
A |
14: 41,001,696 (GRCm39) |
M68I |
|
Het |
| Hmgcr |
A |
G |
13: 96,795,418 (GRCm39) |
S384P |
probably benign |
Het |
| Hsp90aa1 |
T |
C |
12: 110,660,546 (GRCm39) |
T299A |
possibly damaging |
Het |
| Igsf10 |
A |
G |
3: 59,239,122 (GRCm39) |
M353T |
probably benign |
Het |
| Ino80b |
T |
C |
6: 83,099,306 (GRCm39) |
T211A |
probably benign |
Het |
| Lamb2 |
C |
A |
9: 108,366,687 (GRCm39) |
T1607K |
probably benign |
Het |
| Lhfpl5 |
A |
G |
17: 28,801,957 (GRCm39) |
E218G |
probably benign |
Het |
| Lpo |
C |
A |
11: 87,707,269 (GRCm39) |
C248F |
probably damaging |
Het |
| Lrrc3 |
C |
T |
10: 77,736,825 (GRCm39) |
D204N |
probably damaging |
Het |
| Mavs |
C |
A |
2: 131,085,051 (GRCm39) |
L160I |
probably benign |
Het |
| Morn4 |
C |
T |
19: 42,066,483 (GRCm39) |
D35N |
possibly damaging |
Het |
| Mroh8 |
G |
A |
2: 157,063,183 (GRCm39) |
H813Y |
probably benign |
Het |
| Myf6 |
T |
C |
10: 107,330,390 (GRCm39) |
E59G |
probably damaging |
Het |
| Nhsl3 |
T |
A |
4: 129,119,201 (GRCm39) |
E173V |
probably null |
Het |
| Nlrp10 |
T |
A |
7: 108,524,405 (GRCm39) |
E358D |
possibly damaging |
Het |
| Odad2 |
A |
C |
18: 7,211,593 (GRCm39) |
D760E |
probably benign |
Het |
| Optn |
T |
C |
2: 5,057,648 (GRCm39) |
|
probably null |
Het |
| Or12e8 |
A |
G |
2: 87,188,066 (GRCm39) |
T93A |
probably benign |
Het |
| Or13a19 |
T |
C |
7: 139,902,759 (GRCm39) |
I49T |
possibly damaging |
Het |
| Or1e1d-ps1 |
T |
A |
11: 73,819,332 (GRCm39) |
L94* |
probably null |
Het |
| Or1o1 |
T |
C |
17: 37,717,095 (GRCm39) |
F219L |
probably benign |
Het |
| Or5g9 |
T |
A |
2: 85,551,952 (GRCm39) |
F68I |
probably damaging |
Het |
| Or7g28 |
T |
C |
9: 19,272,579 (GRCm39) |
E24G |
possibly damaging |
Het |
| Plxna4 |
T |
A |
6: 32,169,204 (GRCm39) |
H1331L |
probably damaging |
Het |
| Poli |
A |
T |
18: 70,649,920 (GRCm39) |
M357K |
possibly damaging |
Het |
| Psd4 |
T |
G |
2: 24,284,555 (GRCm39) |
C140G |
possibly damaging |
Het |
| Rab3gap1 |
T |
A |
1: 127,818,835 (GRCm39) |
|
probably null |
Het |
| Rasa3 |
T |
C |
8: 13,681,826 (GRCm39) |
N41S |
probably benign |
Het |
| Rps6kc1 |
A |
G |
1: 190,532,407 (GRCm39) |
S532P |
probably benign |
Het |
| S100a3 |
T |
A |
3: 90,509,747 (GRCm39) |
|
probably null |
Het |
| Sfrp5 |
T |
C |
19: 42,190,204 (GRCm39) |
K83E |
possibly damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,780,434 (GRCm39) |
I119V |
probably benign |
Het |
| Snx15 |
T |
A |
19: 6,170,626 (GRCm39) |
Q271L |
probably damaging |
Het |
| Sorcs2 |
C |
A |
5: 36,178,605 (GRCm39) |
S1128I |
probably damaging |
Het |
| Tbc1d7 |
A |
T |
13: 43,308,211 (GRCm39) |
F85I |
probably damaging |
Het |
| Thoc7 |
A |
G |
14: 13,953,528 (GRCm38) |
Y46H |
probably damaging |
Het |
| Top1mt |
T |
A |
15: 75,539,297 (GRCm39) |
Y366F |
probably damaging |
Het |
| Trpv2 |
C |
A |
11: 62,475,287 (GRCm39) |
S233R |
probably benign |
Het |
| Vav1 |
C |
A |
17: 57,586,268 (GRCm39) |
T24N |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wdfy4 |
G |
T |
14: 32,686,583 (GRCm39) |
|
probably null |
Het |
| Wfs1 |
C |
T |
5: 37,124,294 (GRCm39) |
D866N |
probably damaging |
Het |
| Wnk1 |
A |
T |
6: 119,942,687 (GRCm39) |
|
probably benign |
Het |
| Xpot |
G |
T |
10: 121,438,304 (GRCm39) |
Q762K |
probably benign |
Het |
| Zfp287 |
A |
T |
11: 62,605,764 (GRCm39) |
L370H |
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 |
|
|
R6899:Wdr3
|
UTSW |
3 |
100,057,217 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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'- TGGGACACCAGTGTAAGAACTC -3'
(R):5'- TTATCTGAACAGGGCAGTAAGGAC -3'
Sequencing Primer
(F):5'- GACACCAGTGTAAGAACTCCTATTAC -3'
(R):5'- TTCTTAGTACCACACGAACAGTATC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation