Incidental Mutation 'R5411:Wdr3'
| ID |
427456 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr3
|
| Ensembl Gene |
ENSMUSG00000033285 |
| Gene Name |
WD repeat domain 3 |
| Synonyms |
D030020G18Rik |
| MMRRC Submission |
042980-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
R5411 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
100045496-100069723 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 100050300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Tryptophan
at position 746
(G746W)
|
| 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: G746W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000060613
Gene: ENSMUSG00000033285
AA Change: G746W
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
C |
A |
9: 53,493,946 (GRCm39) |
V392F |
probably damaging |
Het |
| Ache |
C |
T |
5: 137,288,326 (GRCm39) |
P11S |
possibly damaging |
Het |
| Ache |
T |
A |
5: 137,288,692 (GRCm39) |
|
probably null |
Het |
| Acoxl |
A |
T |
2: 127,696,821 (GRCm39) |
H23L |
probably benign |
Het |
| Adamtsl1 |
G |
A |
4: 86,306,650 (GRCm39) |
|
probably null |
Het |
| Adar |
T |
A |
3: 89,646,519 (GRCm39) |
F45I |
probably benign |
Het |
| Adgrf4 |
A |
C |
17: 42,978,104 (GRCm39) |
L413R |
probably damaging |
Het |
| Atp6v1g3 |
A |
T |
1: 138,215,627 (GRCm39) |
I96F |
probably benign |
Het |
| Brsk2 |
T |
C |
7: 141,554,594 (GRCm39) |
M653T |
probably benign |
Het |
| Cacna1s |
G |
T |
1: 136,033,549 (GRCm39) |
V1275L |
probably benign |
Het |
| Ces3b |
T |
C |
8: 105,815,264 (GRCm39) |
V5A |
possibly damaging |
Het |
| Chpt1 |
A |
T |
10: 88,312,969 (GRCm39) |
I281N |
probably damaging |
Het |
| Col10a1 |
A |
G |
10: 34,270,553 (GRCm39) |
E175G |
probably damaging |
Het |
| Col27a1 |
T |
C |
4: 63,142,902 (GRCm39) |
S197P |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 15,960,471 (GRCm39) |
R3315W |
probably damaging |
Het |
| Ctnna2 |
T |
C |
6: 77,091,914 (GRCm39) |
E443G |
probably damaging |
Het |
| Dhx9 |
G |
T |
1: 153,356,969 (GRCm39) |
S93R |
probably benign |
Het |
| Efcab8 |
A |
G |
2: 153,625,676 (GRCm39) |
H112R |
probably damaging |
Het |
| Eif3d |
A |
T |
15: 77,843,887 (GRCm39) |
N486K |
probably damaging |
Het |
| Esp8 |
C |
T |
17: 40,840,909 (GRCm39) |
R57* |
probably null |
Het |
| Eya3 |
A |
T |
4: 132,417,090 (GRCm39) |
I130F |
probably damaging |
Het |
| Fat2 |
G |
T |
11: 55,143,052 (GRCm39) |
L4266I |
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,793,019 (GRCm39) |
D983E |
probably benign |
Het |
| Gcc2 |
T |
C |
10: 58,106,791 (GRCm39) |
S640P |
probably damaging |
Het |
| Gys2 |
C |
T |
6: 142,394,147 (GRCm39) |
G464R |
probably damaging |
Het |
| Heatr5a |
G |
A |
12: 51,935,026 (GRCm39) |
T1659I |
probably damaging |
Het |
| Il17ra |
A |
G |
6: 120,458,403 (GRCm39) |
D518G |
probably damaging |
Het |
| Kcnk13 |
A |
G |
12: 100,027,510 (GRCm39) |
Y195C |
probably damaging |
Het |
| Kmt2a |
T |
A |
9: 44,759,782 (GRCm39) |
H722L |
probably damaging |
Het |
| Luzp1 |
C |
A |
4: 136,270,653 (GRCm39) |
Q959K |
possibly damaging |
Het |
| Mep1b |
T |
A |
18: 21,219,306 (GRCm39) |
H153Q |
probably damaging |
Het |
| Mfsd13b |
A |
T |
7: 120,599,346 (GRCm39) |
I381F |
probably benign |
Het |
| Mvk |
A |
G |
5: 114,597,034 (GRCm39) |
T334A |
probably benign |
Het |
| Naa30 |
T |
C |
14: 49,425,008 (GRCm39) |
V320A |
probably damaging |
Het |
| Naip5 |
C |
T |
13: 100,382,254 (GRCm39) |
G152S |
possibly damaging |
Het |
| Neb |
A |
C |
2: 52,185,384 (GRCm39) |
S949R |
probably damaging |
Het |
| Nfya |
A |
T |
17: 48,699,046 (GRCm39) |
I214N |
possibly damaging |
Het |
| Nsf |
G |
T |
11: 103,773,637 (GRCm39) |
N292K |
probably damaging |
Het |
| Nup133 |
T |
C |
8: 124,653,945 (GRCm39) |
T505A |
probably benign |
Het |
| Or4c1 |
A |
C |
2: 89,133,920 (GRCm39) |
S5R |
probably benign |
Het |
| Or4p7 |
A |
G |
2: 88,221,605 (GRCm39) |
T5A |
probably benign |
Het |
| Or5h24 |
T |
A |
16: 58,919,067 (GRCm39) |
H96L |
unknown |
Het |
| Or9s23 |
A |
T |
1: 92,501,546 (GRCm39) |
T218S |
probably benign |
Het |
| P4ha3 |
A |
T |
7: 99,943,022 (GRCm39) |
R136W |
probably damaging |
Het |
| Parp12 |
A |
G |
6: 39,067,142 (GRCm39) |
V550A |
probably damaging |
Het |
| Phf11a |
T |
C |
14: 59,532,387 (GRCm39) |
D16G |
probably benign |
Het |
| Pramel31 |
T |
A |
4: 144,088,207 (GRCm39) |
M1K |
probably null |
Het |
| Rab3gap2 |
A |
G |
1: 185,009,342 (GRCm39) |
|
probably null |
Het |
| Sco1 |
A |
G |
11: 66,954,784 (GRCm39) |
D263G |
probably damaging |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Homo |
| Sfpq |
T |
A |
4: 126,915,516 (GRCm39) |
S103T |
unknown |
Het |
| Shisa7 |
G |
A |
7: 4,832,975 (GRCm39) |
R263C |
probably damaging |
Het |
| Ssc4d |
T |
A |
5: 135,992,254 (GRCm39) |
D144V |
probably benign |
Het |
| Stxbp5l |
G |
A |
16: 36,950,213 (GRCm39) |
P1044L |
probably damaging |
Het |
| Tgm6 |
G |
A |
2: 129,987,116 (GRCm39) |
R528Q |
probably benign |
Het |
| Tlr3 |
A |
T |
8: 45,849,992 (GRCm39) |
H892Q |
probably benign |
Het |
| Tmc2 |
A |
G |
2: 130,082,035 (GRCm39) |
H406R |
probably damaging |
Het |
| Tmtc1 |
A |
T |
6: 148,345,397 (GRCm39) |
|
probably null |
Het |
| Ttc19 |
A |
G |
11: 62,174,977 (GRCm39) |
I139M |
probably benign |
Het |
| Utrn |
G |
A |
10: 12,524,929 (GRCm39) |
R2185C |
probably benign |
Het |
| Wdfy4 |
T |
C |
14: 32,681,959 (GRCm39) |
N3004S |
probably damaging |
Het |
| Zfp335 |
T |
A |
2: 164,744,165 (GRCm39) |
Q500L |
probably damaging |
Het |
| Zfp804b |
A |
T |
5: 6,820,071 (GRCm39) |
D961E |
probably benign |
Het |
| Zkscan16 |
CTTCAGCTTTCA |
CTTCA |
4: 58,956,745 (GRCm39) |
|
probably null |
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 |
|
|
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'- TCACTGAGAGTCCCATGCTG -3'
(R):5'- GAGGCATTGCTCTCTACTGTTAG -3'
Sequencing Primer
(F):5'- TGAGAGTCCCATGCTGGTCAG -3'
(R):5'- CTCTACTGTTAGCCTCTATGTAGTG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation