Incidental Mutation 'R3888:Wdr3'
| ID |
312858 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr3
|
| Ensembl Gene |
ENSMUSG00000033285 |
| Gene Name |
WD repeat domain 3 |
| Synonyms |
D030020G18Rik |
| MMRRC Submission |
040800-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
R3888 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
100045496-100069723 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100061222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 249
(S249T)
|
| 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: S249T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000060613
Gene: ENSMUSG00000033285
AA Change: S249T
| 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 |
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: ENSMUST00000197602
|
| SMART Domains |
Protein: ENSMUSP00000143010
Gene: ENSMUSG00000033285
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
12 |
51 |
1e-18 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933407L21Rik |
T |
A |
1: 85,868,273 (GRCm39) |
|
probably null |
Het |
| Acbd6 |
A |
G |
1: 155,500,643 (GRCm39) |
D201G |
probably damaging |
Het |
| Adam17 |
G |
A |
12: 21,375,588 (GRCm39) |
R744C |
probably damaging |
Het |
| Adss2 |
A |
G |
1: 177,595,335 (GRCm39) |
Y402H |
probably damaging |
Het |
| Ano3 |
T |
A |
2: 110,715,345 (GRCm39) |
K31I |
probably damaging |
Het |
| B930094E09Rik |
G |
A |
18: 31,742,742 (GRCm39) |
S59N |
unknown |
Het |
| Cmya5 |
T |
G |
13: 93,230,164 (GRCm39) |
R1641S |
probably benign |
Het |
| Cps1 |
C |
A |
1: 67,204,659 (GRCm39) |
T493K |
possibly damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,011,326 (GRCm39) |
M1161K |
probably damaging |
Het |
| Etl4 |
C |
T |
2: 20,534,772 (GRCm39) |
Q76* |
probably null |
Het |
| Fn1 |
T |
C |
1: 71,679,465 (GRCm39) |
Y511C |
probably damaging |
Het |
| Foxd2 |
T |
C |
4: 114,765,483 (GRCm39) |
H179R |
unknown |
Het |
| Frem1 |
T |
C |
4: 82,831,844 (GRCm39) |
R1991G |
probably benign |
Het |
| Gimap7 |
G |
A |
6: 48,700,779 (GRCm39) |
E122K |
probably benign |
Het |
| Hps3 |
A |
G |
3: 20,057,387 (GRCm39) |
|
probably null |
Het |
| Kctd2 |
A |
T |
11: 115,318,345 (GRCm39) |
K209N |
probably damaging |
Het |
| Lcor |
T |
A |
19: 41,546,795 (GRCm39) |
S126R |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lrp5 |
G |
A |
19: 3,662,330 (GRCm39) |
R173C |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,344,961 (GRCm39) |
V144A |
possibly damaging |
Het |
| Mypn |
T |
C |
10: 63,028,289 (GRCm39) |
Y258C |
probably damaging |
Het |
| Ntf3 |
T |
C |
6: 126,079,405 (GRCm39) |
M21V |
probably benign |
Het |
| Or4a71 |
T |
A |
2: 89,358,076 (GRCm39) |
H226L |
possibly damaging |
Het |
| Or5b97 |
A |
T |
19: 12,878,497 (GRCm39) |
C216S |
probably benign |
Het |
| Or6c1 |
A |
T |
10: 129,518,088 (GRCm39) |
D173E |
probably benign |
Het |
| Or6c1 |
G |
A |
10: 129,518,087 (GRCm39) |
H174Y |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rbm45 |
A |
G |
2: 76,205,768 (GRCm39) |
S207G |
probably benign |
Het |
| Robo3 |
G |
A |
9: 37,333,477 (GRCm39) |
Q723* |
probably null |
Het |
| Rreb1 |
G |
T |
13: 38,077,941 (GRCm39) |
R51L |
probably damaging |
Het |
| Slc12a6 |
T |
A |
2: 112,097,375 (GRCm39) |
L70Q |
possibly damaging |
Het |
| Slc15a2 |
A |
G |
16: 36,602,666 (GRCm39) |
F65S |
probably damaging |
Het |
| Slitrk5 |
T |
A |
14: 111,917,229 (GRCm39) |
C284* |
probably null |
Het |
| Smim17 |
G |
T |
7: 6,432,279 (GRCm39) |
G74C |
probably damaging |
Het |
| Snapc4 |
G |
A |
2: 26,255,510 (GRCm39) |
Q1005* |
probably null |
Het |
| Suv39h2 |
G |
A |
2: 3,465,845 (GRCm39) |
T170I |
probably benign |
Het |
| Thrb |
A |
G |
14: 18,033,551 (GRCm38) |
K424R |
probably damaging |
Het |
| Tm4sf4 |
C |
T |
3: 57,345,166 (GRCm39) |
Q191* |
probably null |
Het |
| Trak1 |
G |
T |
9: 121,271,863 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,540,618 (GRCm39) |
S25796P |
probably damaging |
Het |
| Ugp2 |
T |
C |
11: 21,303,366 (GRCm39) |
R80G |
probably benign |
Het |
| Utp15 |
C |
T |
13: 98,395,674 (GRCm39) |
V103I |
probably benign |
Het |
| Zeb1 |
T |
A |
18: 5,748,743 (GRCm39) |
D86E |
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 |
|
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 |
|
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'- TGCGCTACAGCAAAAGAACATG -3'
(R):5'- TTATCAGAGGTGACTAGTCAAGATG -3'
Sequencing Primer
(F):5'- GAACATGGAGGTTAAATGTCTGTCC -3'
(R):5'- CTAGTCAAGATGTAAGTGGTTAAAGG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation