Incidental Mutation 'IGL02831:Wdr70'
| ID |
361438 |
| 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 # |
IGL02831
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
7902536-8128693 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 7913787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 621
(Y621H)
|
| 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: Y621H
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000037340
Gene: ENSMUSG00000039828
AA Change: Y621H
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
C |
T |
11: 109,943,907 (GRCm39) |
V1121M |
probably damaging |
Het |
| Acrbp |
C |
A |
6: 125,038,212 (GRCm39) |
T471N |
possibly damaging |
Het |
| Blnk |
C |
T |
19: 40,950,873 (GRCm39) |
D93N |
probably damaging |
Het |
| Casp7 |
A |
G |
19: 56,392,855 (GRCm39) |
D3G |
probably benign |
Het |
| Coro1c |
A |
T |
5: 113,982,469 (GRCm39) |
C456S |
probably benign |
Het |
| Dlec1 |
T |
G |
9: 118,972,983 (GRCm39) |
L1499R |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,931,250 (GRCm39) |
S1422P |
probably benign |
Het |
| Exd1 |
T |
C |
2: 119,359,235 (GRCm39) |
D216G |
probably damaging |
Het |
| Fhit |
T |
C |
14: 9,870,080 (GRCm38) |
T130A |
probably benign |
Het |
| Frem1 |
A |
T |
4: 82,874,395 (GRCm39) |
M1409K |
probably benign |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,678,746 (GRCm39) |
V465A |
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,245,896 (GRCm39) |
Q194R |
possibly damaging |
Het |
| Ip6k2 |
C |
T |
9: 108,681,733 (GRCm39) |
|
probably benign |
Het |
| Kctd2 |
T |
A |
11: 115,321,166 (GRCm39) |
*264K |
probably null |
Het |
| Krt34 |
C |
A |
11: 99,930,973 (GRCm39) |
|
probably benign |
Het |
| Lamc1 |
A |
G |
1: 153,122,801 (GRCm39) |
S760P |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,083,603 (GRCm39) |
N1702S |
probably damaging |
Het |
| Lrrc8e |
T |
A |
8: 4,285,429 (GRCm39) |
S551R |
probably damaging |
Het |
| Map3k20 |
T |
C |
2: 72,202,071 (GRCm39) |
V139A |
probably damaging |
Het |
| Mrtfa |
A |
G |
15: 80,988,994 (GRCm39) |
L9P |
probably benign |
Het |
| Napsa |
A |
G |
7: 44,236,184 (GRCm39) |
T408A |
probably benign |
Het |
| Or2h15 |
T |
C |
17: 38,441,403 (GRCm39) |
K227E |
probably benign |
Het |
| Or2w6 |
T |
C |
13: 21,843,074 (GRCm39) |
I140V |
probably benign |
Het |
| Or5l13 |
T |
C |
2: 87,780,020 (GRCm39) |
|
probably null |
Het |
| Panx1 |
A |
G |
9: 14,918,944 (GRCm39) |
L305P |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,364,889 (GRCm39) |
H676R |
probably benign |
Het |
| Pld1 |
T |
A |
3: 28,130,574 (GRCm39) |
V458E |
probably damaging |
Het |
| Ppp5c |
A |
G |
7: 16,742,570 (GRCm39) |
L256P |
probably damaging |
Het |
| Pyroxd2 |
G |
T |
19: 42,724,342 (GRCm39) |
T307K |
probably damaging |
Het |
| Scart1 |
G |
T |
7: 139,808,434 (GRCm39) |
V782L |
probably benign |
Het |
| Sin3b |
A |
G |
8: 73,471,190 (GRCm39) |
E379G |
probably damaging |
Het |
| Slc22a23 |
T |
C |
13: 34,483,052 (GRCm39) |
T276A |
possibly damaging |
Het |
| Slc26a3 |
T |
C |
12: 31,502,628 (GRCm39) |
I283T |
probably damaging |
Het |
| Sltm |
A |
G |
9: 70,492,147 (GRCm39) |
D712G |
probably damaging |
Het |
| Slu7 |
C |
T |
11: 43,333,480 (GRCm39) |
Q367* |
probably null |
Het |
| Srbd1 |
T |
C |
17: 86,311,299 (GRCm39) |
N706S |
probably damaging |
Het |
| Supt16 |
A |
T |
14: 52,408,335 (GRCm39) |
M870K |
possibly damaging |
Het |
| Tnxb |
T |
C |
17: 34,922,545 (GRCm39) |
Y2453H |
possibly damaging |
Het |
| Tomm40 |
A |
G |
7: 19,437,014 (GRCm39) |
Y274H |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,651,770 (GRCm39) |
D404E |
probably benign |
Het |
| Vmn2r23 |
T |
A |
6: 123,681,344 (GRCm39) |
M84K |
probably benign |
Het |
| Wfdc8 |
C |
T |
2: 164,447,685 (GRCm39) |
|
probably null |
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 |
|
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