Incidental Mutation 'IGL02800:Wdr70'
| ID |
360158 |
| 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: 0.965)
|
| Stock # |
IGL02800
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
7902536-8128693 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8111980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 88
(S88G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045766]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045766
AA Change: S88G
PolyPhen 2
Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000037340
Gene: ENSMUSG00000039828
AA Change: S88G
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
A |
G |
10: 14,296,349 (GRCm39) |
I1045T |
probably damaging |
Het |
| Ankrd22 |
T |
C |
19: 34,143,181 (GRCm39) |
|
probably benign |
Het |
| Bahcc1 |
A |
G |
11: 120,163,760 (GRCm39) |
D686G |
probably damaging |
Het |
| Carns1 |
A |
G |
19: 4,216,569 (GRCm39) |
|
probably benign |
Het |
| Cc2d1b |
C |
T |
4: 108,483,333 (GRCm39) |
L306F |
probably benign |
Het |
| Ccdc153 |
A |
G |
9: 44,157,129 (GRCm39) |
E135G |
probably damaging |
Het |
| Ccne1 |
T |
C |
7: 37,802,224 (GRCm39) |
D148G |
probably damaging |
Het |
| Cfap57 |
A |
T |
4: 118,471,947 (GRCm39) |
M144K |
probably damaging |
Het |
| Chd6 |
A |
G |
2: 160,826,552 (GRCm39) |
V1049A |
probably damaging |
Het |
| Cpne9 |
A |
G |
6: 113,279,034 (GRCm39) |
D476G |
probably benign |
Het |
| Dna2 |
T |
C |
10: 62,797,504 (GRCm39) |
|
probably null |
Het |
| Eif4h |
T |
C |
5: 134,656,459 (GRCm39) |
D77G |
probably benign |
Het |
| Fhl2 |
C |
T |
1: 43,167,562 (GRCm39) |
R177Q |
probably benign |
Het |
| Fxyd5 |
C |
T |
7: 30,732,404 (GRCm39) |
R176H |
possibly damaging |
Het |
| G6pd2 |
A |
G |
5: 61,966,735 (GRCm39) |
E170G |
probably damaging |
Het |
| Haus3 |
A |
G |
5: 34,323,668 (GRCm39) |
I314T |
possibly damaging |
Het |
| Igkv4-54 |
A |
G |
6: 69,608,862 (GRCm39) |
V41A |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,053,092 (GRCm39) |
C461S |
probably damaging |
Het |
| Lsr |
T |
C |
7: 30,657,838 (GRCm39) |
D442G |
probably damaging |
Het |
| Mecom |
T |
C |
3: 30,015,183 (GRCm39) |
I847V |
probably damaging |
Het |
| Mia2 |
C |
T |
12: 59,235,277 (GRCm39) |
R1326* |
probably null |
Het |
| Myo15a |
C |
A |
11: 60,393,195 (GRCm39) |
H2240N |
probably damaging |
Het |
| Or1e17 |
A |
G |
11: 73,831,942 (GRCm39) |
Y290C |
probably damaging |
Het |
| Or4f62 |
A |
T |
2: 111,986,589 (GRCm39) |
I98F |
possibly damaging |
Het |
| Osgep |
T |
A |
14: 51,153,314 (GRCm39) |
|
probably benign |
Het |
| Pcnt |
G |
A |
10: 76,248,417 (GRCm39) |
Q901* |
probably null |
Het |
| Pgm3 |
T |
C |
9: 86,437,431 (GRCm39) |
E481G |
possibly damaging |
Het |
| Plch1 |
T |
A |
3: 63,605,899 (GRCm39) |
D1326V |
probably benign |
Het |
| Rabgap1l |
T |
C |
1: 160,299,623 (GRCm39) |
D590G |
possibly damaging |
Het |
| Rapsn |
A |
G |
2: 90,873,584 (GRCm39) |
M244V |
probably benign |
Het |
| Rcbtb2 |
T |
A |
14: 73,405,543 (GRCm39) |
Y299* |
probably null |
Het |
| Slc8a1 |
A |
T |
17: 81,715,752 (GRCm39) |
D760E |
probably benign |
Het |
| Smim23 |
C |
A |
11: 32,774,424 (GRCm39) |
|
probably null |
Het |
| Sva |
A |
G |
6: 42,017,069 (GRCm39) |
T59A |
unknown |
Het |
| Tacc2 |
T |
A |
7: 130,225,809 (GRCm39) |
D831E |
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,635,154 (GRCm39) |
N551S |
probably benign |
Het |
| Tg |
G |
T |
15: 66,629,735 (GRCm39) |
W472L |
probably damaging |
Het |
| Tmem231 |
A |
G |
8: 112,640,664 (GRCm39) |
V283A |
probably benign |
Het |
| Traf4 |
A |
T |
11: 78,051,061 (GRCm39) |
I365N |
possibly damaging |
Het |
| Usf3 |
G |
A |
16: 44,039,459 (GRCm39) |
S1313N |
probably benign |
Het |
| Vangl1 |
G |
A |
3: 102,070,611 (GRCm39) |
|
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 |
|
|
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 |
|
|
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