Incidental Mutation 'IGL02829:Wdr70'
| ID |
361347 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wdr70
|
| Ensembl Gene |
ENSMUSG00000039828 |
| Gene Name |
WD repeat domain 70 |
| Synonyms |
4833422F06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
IGL02829
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
7902536-8128693 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 8006463 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 363
(D363N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045766]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045766
AA Change: D363N
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000037340
Gene: ENSMUSG00000039828
AA Change: D363N
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bbs9 |
A |
G |
9: 22,490,780 (GRCm39) |
T303A |
probably damaging |
Het |
| Bet1 |
T |
A |
6: 4,086,795 (GRCm39) |
M1L |
probably benign |
Het |
| Bicc1 |
A |
C |
10: 70,794,710 (GRCm39) |
V149G |
probably damaging |
Het |
| Braf |
C |
A |
6: 39,604,662 (GRCm39) |
L655F |
possibly damaging |
Het |
| Cd101 |
A |
G |
3: 100,925,881 (GRCm39) |
|
probably benign |
Het |
| Cobll1 |
T |
C |
2: 64,956,389 (GRCm39) |
K290E |
probably damaging |
Het |
| Col6a5 |
A |
T |
9: 105,811,506 (GRCm39) |
I671K |
unknown |
Het |
| D130052B06Rik |
A |
C |
11: 33,573,864 (GRCm39) |
T154P |
probably benign |
Het |
| Dglucy |
A |
C |
12: 100,837,663 (GRCm39) |
H602P |
probably damaging |
Het |
| Fbxo34 |
A |
G |
14: 47,767,146 (GRCm39) |
I220V |
probably benign |
Het |
| Gm42878 |
A |
G |
5: 121,675,266 (GRCm39) |
V101A |
probably damaging |
Het |
| Gsdmc4 |
A |
G |
15: 63,764,497 (GRCm39) |
L381P |
probably benign |
Het |
| Ifi208 |
C |
A |
1: 173,510,406 (GRCm39) |
P187H |
probably damaging |
Het |
| Lrrc37a |
A |
T |
11: 103,382,000 (GRCm39) |
C2473S |
unknown |
Het |
| Miip |
T |
A |
4: 147,947,518 (GRCm39) |
N214I |
probably benign |
Het |
| Mrc2 |
A |
G |
11: 105,227,533 (GRCm39) |
T589A |
possibly damaging |
Het |
| Mtss1 |
A |
G |
15: 58,930,277 (GRCm39) |
|
probably benign |
Het |
| Mypn |
T |
C |
10: 63,028,365 (GRCm39) |
R233G |
probably benign |
Het |
| Naip6 |
A |
T |
13: 100,437,273 (GRCm39) |
C417S |
probably benign |
Het |
| Or13f5 |
C |
T |
4: 52,826,027 (GRCm39) |
P210L |
probably damaging |
Het |
| Or4c111 |
A |
C |
2: 88,844,021 (GRCm39) |
L129W |
probably damaging |
Het |
| Or8k37 |
T |
A |
2: 86,469,599 (GRCm39) |
Y151F |
possibly damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,274,955 (GRCm39) |
Y515H |
probably damaging |
Het |
| Pla2g2e |
T |
A |
4: 138,607,747 (GRCm39) |
Y42* |
probably null |
Het |
| Polh |
A |
T |
17: 46,483,828 (GRCm39) |
L479Q |
possibly damaging |
Het |
| Prr36 |
T |
A |
8: 4,265,278 (GRCm39) |
R157S |
possibly damaging |
Het |
| Reck |
T |
A |
4: 43,891,014 (GRCm39) |
C51S |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,701,236 (GRCm39) |
D1911G |
probably damaging |
Het |
| Scgb1b27 |
A |
T |
7: 33,721,173 (GRCm39) |
|
probably null |
Het |
| Sema4g |
G |
A |
19: 44,981,188 (GRCm39) |
R47Q |
possibly damaging |
Het |
| Serinc1 |
A |
T |
10: 57,400,061 (GRCm39) |
Y158* |
probably null |
Het |
| Slc15a2 |
C |
A |
16: 36,577,555 (GRCm39) |
G435C |
possibly damaging |
Het |
| Tbc1d17 |
C |
A |
7: 44,498,296 (GRCm39) |
|
probably benign |
Het |
| Tenm4 |
C |
T |
7: 96,544,205 (GRCm39) |
Q2074* |
probably null |
Het |
| Tns3 |
A |
G |
11: 8,469,564 (GRCm39) |
C244R |
probably damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,026,172 (GRCm39) |
|
probably benign |
Het |
| Vmn2r44 |
T |
A |
7: 8,380,879 (GRCm39) |
Q338L |
possibly damaging |
Het |
| Yipf7 |
A |
T |
5: 69,698,434 (GRCm39) |
S24R |
probably benign |
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 |
|
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 |
|
|
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 |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation