Incidental Mutation 'R4015:Wdr70'
| ID |
311922 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr70
|
| Ensembl Gene |
ENSMUSG00000039828 |
| Gene Name |
WD repeat domain 70 |
| Synonyms |
4833422F06Rik |
| MMRRC Submission |
040952-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R4015 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
7902536-8128693 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 8108698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 149
(C149*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045766]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045766
AA Change: C149*
|
| SMART Domains |
Protein: ENSMUSP00000037340
Gene: ENSMUSG00000039828
AA Change: C149*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
51 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
167 |
N/A |
INTRINSIC |
|
WD40
|
174 |
213 |
1.61e-3 |
SMART |
|
WD40
|
220 |
260 |
3.2e0 |
SMART |
|
WD40
|
272 |
315 |
1.03e0 |
SMART |
|
WD40
|
324 |
363 |
1.7e-2 |
SMART |
|
WD40
|
367 |
409 |
1.38e-2 |
SMART |
|
Blast:WD40
|
413 |
460 |
5e-16 |
BLAST |
|
WD40
|
463 |
502 |
3.44e0 |
SMART |
|
low complexity region
|
570 |
586 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.5%
|
| Validation Efficiency |
97% (38/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb6 |
C |
T |
1: 75,151,135 (GRCm39) |
|
probably null |
Het |
| Cacna1e |
T |
C |
1: 154,358,331 (GRCm39) |
D580G |
probably damaging |
Het |
| Ccdc66 |
A |
G |
14: 27,205,793 (GRCm39) |
I898T |
probably damaging |
Het |
| Celf3 |
T |
C |
3: 94,394,505 (GRCm39) |
V202A |
probably benign |
Het |
| Cfap161 |
C |
T |
7: 83,429,479 (GRCm39) |
G180S |
probably benign |
Het |
| Col5a2 |
T |
C |
1: 45,442,631 (GRCm39) |
I605V |
probably benign |
Het |
| Coq6 |
A |
G |
12: 84,413,671 (GRCm39) |
H67R |
probably benign |
Het |
| Cyp2b19 |
T |
C |
7: 26,461,768 (GRCm39) |
F196S |
probably damaging |
Het |
| Cyp4a14 |
G |
T |
4: 115,348,331 (GRCm39) |
P382Q |
probably damaging |
Het |
| Dctpp1 |
G |
A |
7: 126,856,285 (GRCm39) |
R146C |
probably damaging |
Het |
| Ddias |
T |
C |
7: 92,509,069 (GRCm39) |
K282R |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,854,990 (GRCm39) |
Q1965R |
probably benign |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Igf2bp2 |
T |
C |
16: 21,882,426 (GRCm39) |
N425S |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,692,996 (GRCm39) |
F3401L |
possibly damaging |
Het |
| Mocs2 |
T |
C |
13: 114,957,334 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
G |
A |
7: 141,417,367 (GRCm39) |
V3438M |
probably benign |
Het |
| Myo3a |
A |
G |
2: 22,468,182 (GRCm39) |
R479G |
possibly damaging |
Het |
| Nalcn |
T |
G |
14: 123,723,799 (GRCm39) |
E422A |
probably damaging |
Het |
| Pcdh17 |
T |
C |
14: 84,684,547 (GRCm39) |
V338A |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rbm12b1 |
T |
C |
4: 12,145,491 (GRCm39) |
S488P |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Srcap |
C |
A |
7: 127,124,595 (GRCm39) |
P255Q |
probably benign |
Het |
| Sult6b2 |
T |
A |
6: 142,735,988 (GRCm39) |
N202I |
possibly damaging |
Het |
| Tcf7l1 |
A |
G |
6: 72,613,382 (GRCm39) |
|
probably benign |
Het |
| Tef |
T |
C |
15: 81,707,806 (GRCm39) |
V261A |
probably damaging |
Het |
| Trio |
C |
T |
15: 27,744,187 (GRCm39) |
V2582I |
possibly damaging |
Het |
| Tyr |
A |
G |
7: 87,087,148 (GRCm39) |
S455P |
probably benign |
Het |
| Uggt2 |
T |
C |
14: 119,263,845 (GRCm39) |
N1062D |
possibly damaging |
Het |
| Unc13b |
G |
A |
4: 43,237,801 (GRCm39) |
G3441R |
probably damaging |
Het |
| Vmn1r214 |
G |
A |
13: 23,219,520 (GRCm39) |
C338Y |
probably benign |
Het |
| Zfp867 |
A |
G |
11: 59,354,520 (GRCm39) |
F270L |
probably damaging |
Het |
|
| Other mutations in Wdr70 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00777:Wdr70
|
APN |
15 |
8,049,088 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01121:Wdr70
|
APN |
15 |
7,902,655 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01508:Wdr70
|
APN |
15 |
8,108,747 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01801:Wdr70
|
APN |
15 |
7,916,805 (GRCm39) |
splice site |
probably null |
|
|
IGL01815:Wdr70
|
APN |
15 |
7,916,805 (GRCm39) |
splice site |
probably null |
|
|
IGL01929:Wdr70
|
APN |
15 |
7,950,115 (GRCm39) |
splice site |
probably null |
|
|
IGL02150:Wdr70
|
APN |
15 |
8,112,030 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02245:Wdr70
|
APN |
15 |
8,075,965 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02541:Wdr70
|
APN |
15 |
7,913,783 (GRCm39) |
nonsense |
probably null |
|
|
IGL02800:Wdr70
|
APN |
15 |
8,111,980 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02829:Wdr70
|
APN |
15 |
8,006,463 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02831:Wdr70
|
APN |
15 |
7,913,787 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03169:Wdr70
|
APN |
15 |
7,913,821 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL03405:Wdr70
|
APN |
15 |
8,065,352 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0106:Wdr70
|
UTSW |
15 |
8,049,068 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0106:Wdr70
|
UTSW |
15 |
8,049,068 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0462:Wdr70
|
UTSW |
15 |
8,108,645 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0539:Wdr70
|
UTSW |
15 |
7,915,118 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1398:Wdr70
|
UTSW |
15 |
8,065,325 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1812:Wdr70
|
UTSW |
15 |
8,108,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1863:Wdr70
|
UTSW |
15 |
7,950,054 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1913:Wdr70
|
UTSW |
15 |
7,913,891 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2425:Wdr70
|
UTSW |
15 |
7,916,840 (GRCm39) |
nonsense |
probably null |
|
|
R4013:Wdr70
|
UTSW |
15 |
8,108,698 (GRCm39) |
nonsense |
probably null |
|
|
R4017:Wdr70
|
UTSW |
15 |
8,108,698 (GRCm39) |
nonsense |
probably null |
|
|
R4111:Wdr70
|
UTSW |
15 |
8,006,472 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5241:Wdr70
|
UTSW |
15 |
8,108,700 (GRCm39) |
missense |
probably benign |
|
|
R5277:Wdr70
|
UTSW |
15 |
8,006,465 (GRCm39) |
nonsense |
probably null |
|
|
R5306:Wdr70
|
UTSW |
15 |
7,953,754 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5426:Wdr70
|
UTSW |
15 |
7,951,586 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5586:Wdr70
|
UTSW |
15 |
7,913,769 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6010:Wdr70
|
UTSW |
15 |
7,916,900 (GRCm39) |
splice site |
probably null |
|
|
R6035:Wdr70
|
UTSW |
15 |
7,916,830 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6035:Wdr70
|
UTSW |
15 |
7,916,830 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6109:Wdr70
|
UTSW |
15 |
8,108,638 (GRCm39) |
splice site |
probably null |
|
|
R6139:Wdr70
|
UTSW |
15 |
8,108,735 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6400:Wdr70
|
UTSW |
15 |
8,072,322 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6456:Wdr70
|
UTSW |
15 |
7,915,118 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6518:Wdr70
|
UTSW |
15 |
8,108,821 (GRCm39) |
missense |
unknown |
|
|
R7036:Wdr70
|
UTSW |
15 |
7,913,855 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7056:Wdr70
|
UTSW |
15 |
7,913,877 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7341:Wdr70
|
UTSW |
15 |
7,953,725 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7484:Wdr70
|
UTSW |
15 |
7,951,562 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7572:Wdr70
|
UTSW |
15 |
8,065,327 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7652:Wdr70
|
UTSW |
15 |
8,108,700 (GRCm39) |
missense |
probably benign |
|
|
R7886:Wdr70
|
UTSW |
15 |
8,108,733 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8103:Wdr70
|
UTSW |
15 |
8,006,612 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8214:Wdr70
|
UTSW |
15 |
7,916,851 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8252:Wdr70
|
UTSW |
15 |
8,072,337 (GRCm39) |
splice site |
probably benign |
|
|
R8869:Wdr70
|
UTSW |
15 |
8,123,210 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9203:Wdr70
|
UTSW |
15 |
7,902,684 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCAACAGGTGGTGGCTATC -3'
(R):5'- CCTGAGAACTTGGTGCTGTG -3'
Sequencing Primer
(F):5'- AACAGGTGGTGGCTATCCTACC -3'
(R):5'- TGTGCGCAGAGATGCCTAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation