Incidental Mutation 'R5277:Wdr70'
ID |
404018 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr70
|
Ensembl Gene |
ENSMUSG00000039828 |
Gene Name |
WD repeat domain 70 |
Synonyms |
4833422F06Rik |
MMRRC Submission |
042864-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.966)
|
Stock # |
R5277 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
7902536-8128693 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 8006465 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Stop codon
at position 362
(W362*)
|
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: W362*
|
SMART Domains |
Protein: ENSMUSP00000037340 Gene: ENSMUSG00000039828 AA Change: W362*
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184975
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229131
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
98% (52/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi1 |
T |
C |
2: 22,884,660 (GRCm39) |
T54A |
probably damaging |
Het |
Ablim1 |
T |
C |
19: 57,143,693 (GRCm39) |
R89G |
probably damaging |
Het |
Bco1 |
T |
A |
8: 117,844,128 (GRCm39) |
|
probably null |
Het |
Bhmt |
A |
T |
13: 93,761,393 (GRCm39) |
M185K |
possibly damaging |
Het |
Camk2d |
T |
C |
3: 126,478,390 (GRCm39) |
|
probably benign |
Het |
Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
Dcaf6 |
A |
G |
1: 165,251,915 (GRCm39) |
S70P |
probably benign |
Het |
Dclre1a |
C |
T |
19: 56,533,164 (GRCm39) |
V477I |
possibly damaging |
Het |
Dnah10 |
C |
T |
5: 124,905,201 (GRCm39) |
P4021L |
probably damaging |
Het |
Dusp10 |
A |
G |
1: 183,769,204 (GRCm39) |
N57D |
possibly damaging |
Het |
Fam13b |
G |
A |
18: 34,595,243 (GRCm39) |
R374C |
probably benign |
Het |
Fyb2 |
G |
A |
4: 104,872,876 (GRCm39) |
D686N |
probably damaging |
Het |
Glra3 |
G |
A |
8: 56,444,242 (GRCm39) |
M67I |
possibly damaging |
Het |
Gm14325 |
G |
A |
2: 177,474,777 (GRCm39) |
H102Y |
possibly damaging |
Het |
Gm6180 |
A |
G |
8: 42,700,177 (GRCm39) |
|
noncoding transcript |
Het |
Grin2c |
A |
G |
11: 115,144,639 (GRCm39) |
V629A |
probably damaging |
Het |
Kif4-ps |
A |
T |
12: 101,112,186 (GRCm39) |
|
noncoding transcript |
Het |
Mc3r |
T |
C |
2: 172,091,707 (GRCm39) |
F310L |
probably damaging |
Het |
Myh4 |
A |
G |
11: 67,143,180 (GRCm39) |
D1036G |
probably damaging |
Het |
Myh6 |
A |
G |
14: 55,194,019 (GRCm39) |
I790T |
probably benign |
Het |
Myo15a |
C |
A |
11: 60,367,940 (GRCm39) |
Y233* |
probably null |
Het |
Nckap5 |
A |
T |
1: 125,954,277 (GRCm39) |
C758* |
probably null |
Het |
Neurog3 |
T |
A |
10: 61,969,632 (GRCm39) |
Y36N |
probably damaging |
Het |
Nlrp4e |
T |
C |
7: 23,020,863 (GRCm39) |
L450P |
probably benign |
Het |
Or52d13 |
A |
T |
7: 103,110,148 (GRCm39) |
L84H |
probably damaging |
Het |
Otog |
A |
G |
7: 45,896,045 (GRCm39) |
E170G |
possibly damaging |
Het |
Ppp2r2b |
G |
T |
18: 42,874,207 (GRCm39) |
T41K |
probably damaging |
Het |
Prmt5 |
A |
T |
14: 54,747,399 (GRCm39) |
D459E |
probably benign |
Het |
Ric8b |
G |
A |
10: 84,783,516 (GRCm39) |
V125M |
probably damaging |
Het |
Rptor |
A |
G |
11: 119,713,782 (GRCm39) |
S4G |
probably damaging |
Het |
Rslcan18 |
T |
G |
13: 67,246,498 (GRCm39) |
E371D |
probably benign |
Het |
Scaf11 |
A |
T |
15: 96,317,107 (GRCm39) |
F819Y |
probably damaging |
Het |
Sema6a |
A |
T |
18: 47,409,611 (GRCm39) |
|
probably benign |
Het |
Snx29 |
C |
T |
16: 11,217,688 (GRCm39) |
T163I |
possibly damaging |
Het |
Sphkap |
T |
C |
1: 83,253,885 (GRCm39) |
N1288S |
probably benign |
Het |
Tmbim7 |
G |
A |
5: 3,723,192 (GRCm39) |
|
probably null |
Het |
Tmem63c |
T |
A |
12: 87,104,531 (GRCm39) |
|
probably null |
Het |
Tmem69 |
A |
G |
4: 116,410,458 (GRCm39) |
F171L |
probably benign |
Het |
Urod |
A |
T |
4: 116,847,482 (GRCm39) |
|
probably benign |
Het |
Vmn1r37 |
A |
T |
6: 66,708,460 (GRCm39) |
I29L |
probably benign |
Het |
Vmn2r102 |
A |
G |
17: 19,914,393 (GRCm39) |
T653A |
possibly damaging |
Het |
Vmn2r75 |
A |
C |
7: 85,815,500 (GRCm39) |
S121R |
probably benign |
Het |
Vwde |
T |
C |
6: 13,186,995 (GRCm39) |
T831A |
probably benign |
Het |
Zfat |
A |
G |
15: 68,037,758 (GRCm39) |
C906R |
probably damaging |
Het |
Zfp7 |
T |
C |
15: 76,765,403 (GRCm39) |
V32A |
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 |
|
R4015: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 |
|
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'- GTCTTCAGCTGTTCTTTGCAGAAAG -3'
(R):5'- TTATGGGCCTGCTTCTTCAG -3'
Sequencing Primer
(F):5'- TCTGGACATGATGATACACACC -3'
(R):5'- GGCTCTGGGAAGTTGAAAA -3'
|
Posted On |
2016-07-22 |