Incidental Mutation 'IGL03169:Wdr70'
| ID |
411754 |
| 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 # |
IGL03169
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
7902536-8128693 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 7913821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 609
(I609M)
|
| 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: I609M
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000037340
Gene: ENSMUSG00000039828
AA Change: I609M
| 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: ENSMUST00000226928
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
A |
T |
8: 84,658,624 (GRCm39) |
I548F |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,652,019 (GRCm39) |
Q2995L |
probably damaging |
Het |
| Capn9 |
T |
C |
8: 125,332,616 (GRCm39) |
I485T |
probably damaging |
Het |
| Ccdc17 |
T |
A |
4: 116,454,957 (GRCm39) |
I197N |
probably damaging |
Het |
| Chl1 |
T |
A |
6: 103,642,928 (GRCm39) |
L222Q |
probably damaging |
Het |
| Ctla4 |
T |
C |
1: 60,953,764 (GRCm39) |
|
probably benign |
Het |
| Cyp2d12 |
T |
C |
15: 82,443,492 (GRCm39) |
S485P |
probably benign |
Het |
| Ddx50 |
A |
T |
10: 62,457,166 (GRCm39) |
|
probably null |
Het |
| Dlgap4 |
C |
A |
2: 156,552,938 (GRCm39) |
|
probably null |
Het |
| Dpysl4 |
G |
A |
7: 138,679,826 (GRCm39) |
|
probably null |
Het |
| Erbin |
T |
C |
13: 103,977,740 (GRCm39) |
M606V |
possibly damaging |
Het |
| Fat4 |
T |
G |
3: 39,011,547 (GRCm39) |
S2216A |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,429,713 (GRCm39) |
N2779S |
probably benign |
Het |
| Fut1 |
T |
C |
7: 45,268,457 (GRCm39) |
V82A |
probably benign |
Het |
| Gnb1l |
C |
T |
16: 18,359,205 (GRCm39) |
A2V |
probably damaging |
Het |
| Hdac1 |
C |
T |
4: 129,412,624 (GRCm39) |
E327K |
probably null |
Het |
| Hdlbp |
A |
G |
1: 93,344,309 (GRCm39) |
V819A |
possibly damaging |
Het |
| Ift122 |
T |
C |
6: 115,882,922 (GRCm39) |
|
probably benign |
Het |
| Iqgap2 |
T |
C |
13: 95,867,785 (GRCm39) |
|
probably null |
Het |
| Kntc1 |
T |
C |
5: 123,913,884 (GRCm39) |
V613A |
possibly damaging |
Het |
| Lamb1 |
T |
C |
12: 31,373,645 (GRCm39) |
V1458A |
probably damaging |
Het |
| Lef1 |
A |
G |
3: 130,988,312 (GRCm39) |
K265R |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,353,538 (GRCm39) |
D574G |
probably damaging |
Het |
| Mterf2 |
C |
T |
10: 84,956,324 (GRCm39) |
R100H |
probably benign |
Het |
| Nr1d2 |
C |
T |
14: 18,216,703 (GRCm38) |
R155Q |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,964,122 (GRCm39) |
T3304A |
probably damaging |
Het |
| Or2j3 |
G |
T |
17: 38,615,992 (GRCm39) |
S120Y |
probably damaging |
Het |
| Or4a78 |
A |
G |
2: 89,497,831 (GRCm39) |
I133T |
possibly damaging |
Het |
| Os9 |
G |
A |
10: 126,934,463 (GRCm39) |
T391M |
probably benign |
Het |
| Parp6 |
C |
A |
9: 59,557,300 (GRCm39) |
Y131* |
probably null |
Het |
| Plxdc1 |
T |
C |
11: 97,823,146 (GRCm39) |
E358G |
possibly damaging |
Het |
| Ppef2 |
C |
T |
5: 92,383,759 (GRCm39) |
W450* |
probably null |
Het |
| Ptprc |
A |
T |
1: 138,041,357 (GRCm39) |
S167R |
probably benign |
Het |
| Rad54l2 |
T |
C |
9: 106,596,263 (GRCm39) |
D225G |
probably benign |
Het |
| Rgs7 |
T |
C |
1: 175,098,401 (GRCm39) |
I53V |
possibly damaging |
Het |
| Rpa1 |
T |
C |
11: 75,192,183 (GRCm39) |
D607G |
probably damaging |
Het |
| Shisa5 |
T |
A |
9: 108,885,560 (GRCm39) |
H213Q |
probably damaging |
Het |
| Syncrip |
A |
G |
9: 88,338,496 (GRCm39) |
|
probably benign |
Het |
| Taf4b |
T |
G |
18: 14,954,592 (GRCm39) |
V556G |
probably damaging |
Het |
| Tgif1 |
A |
C |
17: 71,151,836 (GRCm39) |
S258R |
possibly damaging |
Het |
| Tmem106a |
T |
C |
11: 101,481,284 (GRCm39) |
|
probably benign |
Het |
| Vmn1r113 |
A |
T |
7: 20,522,012 (GRCm39) |
H268L |
probably benign |
Het |
| Vmn1r40 |
A |
T |
6: 89,692,005 (GRCm39) |
Q274L |
probably damaging |
Het |
| Wdr91 |
G |
A |
6: 34,882,426 (GRCm39) |
S241L |
possibly damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,553,022 (GRCm39) |
Y713C |
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 |
|
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 |
2016-08-02 |
Incidental Mutation