Incidental Mutation 'R6813:Wdr3'
| ID |
533928 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr3
|
| Ensembl Gene |
ENSMUSG00000033285 |
| Gene Name |
WD repeat domain 3 |
| Synonyms |
D030020G18Rik |
| MMRRC Submission |
044925-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
R6813 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
100045496-100069723 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 100046041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 931
(R931*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052120]
[ENSMUST00000164539]
|
| AlphaFold |
Q8BHB4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000052120
AA Change: R931*
|
| SMART Domains |
Protein: ENSMUSP00000060613
Gene: ENSMUSG00000033285
AA Change: R931*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 96.9%
|
| Validation Efficiency |
100% (61/61) |
| 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 |
|---|
| Adgrb2 |
C |
A |
4: 129,903,284 (GRCm39) |
Q603K |
probably damaging |
Het |
| Adgrf3 |
A |
G |
5: 30,402,519 (GRCm39) |
F503S |
probably damaging |
Het |
| Arfgap3 |
A |
T |
15: 83,214,794 (GRCm39) |
M164K |
probably benign |
Het |
| Asb13 |
G |
T |
13: 3,695,029 (GRCm39) |
V166F |
probably damaging |
Het |
| Atm |
T |
G |
9: 53,408,535 (GRCm39) |
R1103S |
probably benign |
Het |
| Atxn7l1 |
T |
C |
12: 33,417,123 (GRCm39) |
I626T |
probably damaging |
Het |
| Brsk2 |
A |
G |
7: 141,556,214 (GRCm39) |
I649V |
probably benign |
Het |
| Ccdc25 |
T |
A |
14: 66,093,882 (GRCm39) |
M85K |
probably benign |
Het |
| Cdc42bpb |
A |
G |
12: 111,294,049 (GRCm39) |
V231A |
probably damaging |
Het |
| Clstn3 |
T |
A |
6: 124,413,894 (GRCm39) |
M767L |
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,661,140 (GRCm39) |
R323K |
probably benign |
Het |
| Cplane1 |
T |
A |
15: 8,258,766 (GRCm39) |
N2337K |
probably benign |
Het |
| Creld1 |
A |
G |
6: 113,466,530 (GRCm39) |
Y199C |
probably damaging |
Het |
| Csf1r |
T |
A |
18: 61,245,806 (GRCm39) |
D254E |
probably benign |
Het |
| Dab2ip |
C |
T |
2: 35,620,485 (GRCm39) |
Q1118* |
probably null |
Het |
| Dcun1d4 |
C |
A |
5: 73,678,300 (GRCm39) |
S98R |
possibly damaging |
Het |
| Disp3 |
G |
A |
4: 148,344,387 (GRCm39) |
P505L |
probably benign |
Het |
| Dlec1 |
A |
T |
9: 118,941,170 (GRCm39) |
Q240L |
probably benign |
Het |
| Dnai4 |
T |
C |
4: 102,905,523 (GRCm39) |
K753E |
probably benign |
Het |
| Edil3 |
T |
A |
13: 89,437,575 (GRCm39) |
I392N |
probably damaging |
Het |
| Epha10 |
T |
A |
4: 124,796,486 (GRCm39) |
S398R |
|
Het |
| Ephb1 |
A |
G |
9: 101,887,247 (GRCm39) |
I464T |
possibly damaging |
Het |
| Eps15 |
T |
A |
4: 109,137,599 (GRCm39) |
|
probably null |
Het |
| Fam111a |
T |
A |
19: 12,564,706 (GRCm39) |
C152S |
probably damaging |
Het |
| Flt3 |
T |
C |
5: 147,291,653 (GRCm39) |
E599G |
probably damaging |
Het |
| Frmd3 |
T |
C |
4: 74,077,482 (GRCm39) |
S259P |
probably benign |
Het |
| Hsfy2 |
A |
G |
1: 56,675,461 (GRCm39) |
Y359H |
possibly damaging |
Het |
| Ifih1 |
C |
T |
2: 62,476,037 (GRCm39) |
V80M |
possibly damaging |
Het |
| Il12rb2 |
A |
C |
6: 67,269,358 (GRCm39) |
D818E |
probably damaging |
Het |
| Il4i1 |
A |
G |
7: 44,489,236 (GRCm39) |
T334A |
probably benign |
Het |
| Irs2 |
G |
A |
8: 11,054,659 (GRCm39) |
Q1258* |
probably null |
Het |
| Lsm1 |
T |
G |
8: 26,283,721 (GRCm39) |
H44Q |
probably benign |
Het |
| Mgam |
A |
T |
6: 40,727,099 (GRCm39) |
M1257L |
probably damaging |
Het |
| Myc |
T |
C |
15: 61,860,001 (GRCm39) |
S225P |
probably damaging |
Het |
| Myh1 |
T |
C |
11: 67,111,286 (GRCm39) |
V1575A |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,775,949 (GRCm39) |
D380G |
probably damaging |
Het |
| Ncoa7 |
T |
A |
10: 30,572,188 (GRCm39) |
D157V |
probably damaging |
Het |
| Or10g9b |
T |
A |
9: 39,917,753 (GRCm39) |
H164L |
probably benign |
Het |
| Or2t44 |
G |
T |
11: 58,677,472 (GRCm39) |
Q137H |
probably benign |
Het |
| Or7g16 |
G |
A |
9: 18,727,188 (GRCm39) |
T134M |
probably benign |
Het |
| Or8b36 |
T |
C |
9: 37,937,129 (GRCm39) |
V9A |
probably damaging |
Het |
| Or8b9 |
A |
C |
9: 37,766,810 (GRCm39) |
E232A |
possibly damaging |
Het |
| Pccb |
A |
G |
9: 100,905,268 (GRCm39) |
V117A |
probably damaging |
Het |
| Pdp2 |
C |
T |
8: 105,321,131 (GRCm39) |
H327Y |
probably damaging |
Het |
| Pdzph1 |
G |
T |
17: 59,281,431 (GRCm39) |
Q284K |
probably benign |
Het |
| Phka2 |
G |
A |
X: 159,316,044 (GRCm39) |
V230I |
probably damaging |
Het |
| Phldb1 |
A |
T |
9: 44,610,865 (GRCm39) |
S751R |
probably damaging |
Het |
| Pira1 |
T |
C |
7: 3,739,002 (GRCm39) |
H535R |
probably benign |
Het |
| Ppp1r1b |
T |
A |
11: 98,240,002 (GRCm39) |
|
probably null |
Het |
| Ppp1r3a |
A |
G |
6: 14,719,570 (GRCm39) |
V448A |
probably benign |
Het |
| Pvrig-ps |
A |
T |
5: 138,340,312 (GRCm39) |
T28S |
probably benign |
Het |
| Rasgrf1 |
G |
A |
9: 89,892,537 (GRCm39) |
|
probably null |
Het |
| Scnn1g |
T |
C |
7: 121,339,576 (GRCm39) |
L125S |
probably damaging |
Het |
| Slc30a7 |
A |
T |
3: 115,775,460 (GRCm39) |
D221E |
probably benign |
Het |
| Spata31e1 |
T |
A |
13: 49,940,872 (GRCm39) |
R279S |
probably benign |
Het |
| Tmem30c |
A |
G |
16: 57,101,622 (GRCm39) |
|
probably null |
Het |
| Tmem33 |
T |
C |
5: 67,421,802 (GRCm39) |
|
probably null |
Het |
| Ttc29 |
A |
T |
8: 79,060,249 (GRCm39) |
T390S |
probably benign |
Het |
| Vamp5 |
G |
A |
6: 72,357,424 (GRCm39) |
|
probably benign |
Het |
| Vmn2r81 |
T |
A |
10: 79,104,439 (GRCm39) |
F354Y |
probably benign |
Het |
| Vmn2r96 |
A |
G |
17: 18,802,116 (GRCm39) |
H119R |
probably benign |
Het |
| Wtap |
A |
T |
17: 13,186,397 (GRCm39) |
N383K |
probably damaging |
Het |
| Zfp808 |
T |
C |
13: 62,320,849 (GRCm39) |
Y693H |
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 |
|
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 |
|
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'- CAGCCATGTTGGTTTCTTCAAC -3'
(R):5'- CAACAGAAGCACTTAGTGAGC -3'
Sequencing Primer
(F):5'- TCTTCAACCAAGGCTGACATCTG -3'
(R):5'- GCTAAGGAAACAAGACAGTGCCC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation