Incidental Mutation 'R6516:Wdr3'
| ID |
520675 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr3
|
| Ensembl Gene |
ENSMUSG00000033285 |
| Gene Name |
WD repeat domain 3 |
| Synonyms |
D030020G18Rik |
| MMRRC Submission |
044643-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
R6516 (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 100052992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 587
(Y587H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052120]
[ENSMUST00000164539]
|
| AlphaFold |
Q8BHB4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052120
AA Change: Y587H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000060613
Gene: ENSMUSG00000033285
AA Change: Y587H
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
| Validation Efficiency |
100% (63/63) |
| 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 |
|---|
| 4930558K02Rik |
A |
T |
1: 161,780,235 (GRCm39) |
V93E |
probably benign |
Het |
| Adam18 |
A |
G |
8: 25,164,703 (GRCm39) |
L4P |
probably damaging |
Het |
| Adcy8 |
A |
T |
15: 64,571,236 (GRCm39) |
Y1136N |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,613,119 (GRCm39) |
Y184C |
probably damaging |
Het |
| Ankrd6 |
G |
A |
4: 32,836,427 (GRCm39) |
R43W |
probably damaging |
Het |
| Ano8 |
G |
T |
8: 71,934,424 (GRCm39) |
|
probably null |
Het |
| Arhgap31 |
A |
G |
16: 38,429,766 (GRCm39) |
F370L |
possibly damaging |
Het |
| C7 |
A |
G |
15: 5,086,563 (GRCm39) |
V26A |
probably damaging |
Het |
| Cimap1a |
G |
A |
7: 140,428,718 (GRCm39) |
G128S |
probably damaging |
Het |
| Clec4a2 |
C |
A |
6: 123,116,365 (GRCm39) |
Q153K |
probably damaging |
Het |
| Cyp2c67 |
T |
A |
19: 39,605,873 (GRCm39) |
D341V |
probably damaging |
Het |
| Ddo |
T |
A |
10: 40,507,741 (GRCm39) |
V46E |
probably damaging |
Het |
| Deup1 |
A |
C |
9: 15,521,910 (GRCm39) |
M85R |
probably damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,323,960 (GRCm39) |
S1141R |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,356,212 (GRCm39) |
F2147L |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,518,178 (GRCm39) |
E1298G |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,781,898 (GRCm39) |
V701E |
possibly damaging |
Het |
| Dthd1 |
A |
T |
5: 62,996,607 (GRCm39) |
K447N |
probably benign |
Het |
| Eno2 |
G |
T |
6: 124,738,672 (GRCm39) |
|
probably null |
Het |
| Fastkd5 |
T |
A |
2: 130,456,221 (GRCm39) |
T790S |
possibly damaging |
Het |
| Fer1l4 |
C |
T |
2: 155,877,119 (GRCm39) |
V1139M |
probably damaging |
Het |
| Gpbp1 |
A |
T |
13: 111,589,636 (GRCm39) |
H111Q |
probably benign |
Het |
| Grk3 |
A |
T |
5: 113,109,415 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
C |
T |
17: 27,310,344 (GRCm39) |
A403V |
probably benign |
Het |
| Kcnc2 |
A |
G |
10: 112,297,905 (GRCm39) |
T610A |
probably benign |
Het |
| Kcnh1 |
T |
A |
1: 192,101,089 (GRCm39) |
D560E |
possibly damaging |
Het |
| Klc4 |
A |
T |
17: 46,953,181 (GRCm39) |
N116K |
probably damaging |
Het |
| Krba1 |
C |
T |
6: 48,390,206 (GRCm39) |
Q656* |
probably null |
Het |
| Mchr1 |
A |
G |
15: 81,122,069 (GRCm39) |
Y273C |
probably damaging |
Het |
| Myh15 |
T |
A |
16: 48,957,996 (GRCm39) |
C938S |
probably benign |
Het |
| Nutm1 |
T |
C |
2: 112,081,562 (GRCm39) |
E367G |
probably damaging |
Het |
| Or10a3n |
A |
T |
7: 108,492,972 (GRCm39) |
I214K |
probably damaging |
Het |
| Or4e2 |
A |
T |
14: 52,688,586 (GRCm39) |
T239S |
probably damaging |
Het |
| Or5w18 |
A |
T |
2: 87,633,114 (GRCm39) |
Y127F |
possibly damaging |
Het |
| Or8b48 |
A |
G |
9: 38,492,768 (GRCm39) |
N65S |
probably damaging |
Het |
| Pikfyve |
G |
T |
1: 65,304,940 (GRCm39) |
M1697I |
probably benign |
Het |
| Plcd1 |
A |
G |
9: 118,905,271 (GRCm39) |
S147P |
probably damaging |
Het |
| Plin3 |
G |
A |
17: 56,593,223 (GRCm39) |
P113L |
probably damaging |
Het |
| Pum3 |
C |
A |
19: 27,403,408 (GRCm39) |
S31I |
probably benign |
Het |
| Robo1 |
T |
C |
16: 72,821,241 (GRCm39) |
V1327A |
probably benign |
Het |
| Rpl15-ps6 |
A |
G |
15: 52,341,200 (GRCm39) |
|
noncoding transcript |
Het |
| Rpl34 |
G |
A |
3: 130,522,716 (GRCm39) |
P50L |
probably benign |
Het |
| Scnn1b |
T |
C |
7: 121,511,335 (GRCm39) |
S341P |
probably damaging |
Het |
| Sh3bp5 |
A |
T |
14: 31,097,629 (GRCm39) |
M362K |
possibly damaging |
Het |
| Slc24a5 |
A |
G |
2: 124,930,027 (GRCm39) |
T443A |
probably benign |
Het |
| Slc25a12 |
T |
C |
2: 71,154,427 (GRCm39) |
Y81C |
probably damaging |
Het |
| Slc43a3 |
A |
G |
2: 84,788,105 (GRCm39) |
T496A |
probably benign |
Het |
| Smap2 |
C |
T |
4: 120,840,303 (GRCm39) |
|
probably null |
Het |
| Sptbn5 |
T |
A |
2: 119,878,431 (GRCm39) |
|
probably benign |
Het |
| Taar5 |
A |
G |
10: 23,847,564 (GRCm39) |
S321G |
possibly damaging |
Het |
| Tbx21 |
T |
C |
11: 96,990,782 (GRCm39) |
I299V |
possibly damaging |
Het |
| Tcerg1 |
T |
C |
18: 42,663,957 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
G |
C |
8: 48,870,257 (GRCm39) |
Q179E |
probably benign |
Het |
| Tmem176a |
T |
G |
6: 48,821,002 (GRCm39) |
|
probably null |
Het |
| Tmem236 |
T |
C |
2: 14,200,791 (GRCm39) |
S119P |
probably benign |
Het |
| Tmprss11a |
C |
T |
5: 86,567,987 (GRCm39) |
V247M |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,901,071 (GRCm39) |
S1593P |
probably damaging |
Het |
| Ttc9b |
T |
A |
7: 27,355,412 (GRCm39) |
D227E |
probably benign |
Het |
| Usp33 |
A |
C |
3: 152,079,053 (GRCm39) |
Q435P |
probably benign |
Het |
| Vti1a |
C |
T |
19: 55,369,390 (GRCm39) |
A94V |
probably damaging |
Het |
| Wwc1 |
G |
A |
11: 35,758,129 (GRCm39) |
A739V |
probably benign |
Het |
| Zfp628 |
C |
G |
7: 4,923,201 (GRCm39) |
Y474* |
probably null |
Het |
| Zfp820 |
A |
T |
17: 22,038,354 (GRCm39) |
C325S |
probably 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 |
|
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'- ATCTTCCAGAGCCACTGTAGG -3'
(R):5'- ATGCGTAGGGTCTCCATAGTG -3'
Sequencing Primer
(F):5'- GTAGGTGGTTGAAAGGACTTTAATAC -3'
(R):5'- TAGGGTCTCCATAGTGGACAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation