Incidental Mutation 'R9203:Wdr70'
| ID |
698343 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr70
|
| Ensembl Gene |
ENSMUSG00000039828 |
| Gene Name |
WD repeat domain 70 |
| Synonyms |
4833422F06Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R9203 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
7902536-8128693 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 7902684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 646
(S646L)
|
| 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: S646L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000037340
Gene: ENSMUSG00000039828
AA Change: S646L
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc1 |
T |
C |
2: 128,465,422 (GRCm39) |
H1686R |
possibly damaging |
Het |
| Ankrd33b |
A |
G |
15: 31,298,028 (GRCm39) |
M243T |
probably benign |
Het |
| Appl1 |
G |
T |
14: 26,682,970 (GRCm39) |
S104* |
probably null |
Het |
| Appl2 |
A |
T |
10: 83,476,879 (GRCm39) |
Y48* |
probably null |
Het |
| Cacna1d |
T |
C |
14: 29,773,669 (GRCm39) |
N1694S |
probably benign |
Het |
| Cc2d2a |
G |
T |
5: 43,891,179 (GRCm39) |
D1372Y |
probably benign |
Het |
| Cdh4 |
C |
T |
2: 179,422,196 (GRCm39) |
R107C |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cfap54 |
T |
G |
10: 92,880,990 (GRCm39) |
M358L |
probably benign |
Het |
| Csnka2ip |
T |
A |
16: 64,298,630 (GRCm39) |
D578V |
unknown |
Het |
| Ctns |
T |
C |
11: 73,082,563 (GRCm39) |
I56V |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,746,113 (GRCm39) |
I4000T |
possibly damaging |
Het |
| Dock2 |
A |
G |
11: 34,622,366 (GRCm39) |
V91A |
possibly damaging |
Het |
| Dpep2 |
T |
C |
8: 106,712,885 (GRCm39) |
H335R |
probably damaging |
Het |
| Eno1 |
C |
T |
4: 150,332,539 (GRCm39) |
R400* |
probably null |
Het |
| Fam114a1 |
C |
A |
5: 65,137,300 (GRCm39) |
P81H |
probably damaging |
Het |
| Gemin6 |
A |
G |
17: 80,535,237 (GRCm39) |
T66A |
probably benign |
Het |
| Grm4 |
T |
C |
17: 27,653,980 (GRCm39) |
I657V |
probably benign |
Het |
| H2ac22 |
T |
C |
13: 21,971,057 (GRCm39) |
N111S |
probably benign |
Het |
| Has3 |
T |
C |
8: 107,600,852 (GRCm39) |
C105R |
probably damaging |
Het |
| Hecw1 |
T |
C |
13: 14,491,243 (GRCm39) |
E170G |
probably benign |
Het |
| Hoxd3 |
T |
C |
2: 74,576,744 (GRCm39) |
V208A |
probably damaging |
Het |
| Hypk |
C |
T |
2: 121,288,163 (GRCm39) |
Q75* |
probably null |
Het |
| Itpkb |
T |
A |
1: 180,161,004 (GRCm39) |
W377R |
probably benign |
Het |
| Kbtbd2 |
A |
T |
6: 56,755,987 (GRCm39) |
V583E |
probably damaging |
Het |
| Kdm5d |
A |
G |
Y: 940,981 (GRCm39) |
Y1122C |
probably damaging |
Het |
| Kif7 |
A |
C |
7: 79,354,472 (GRCm39) |
L771R |
probably damaging |
Het |
| Krt9 |
C |
G |
11: 100,079,734 (GRCm39) |
G553R |
unknown |
Het |
| Lama3 |
G |
A |
18: 12,595,869 (GRCm39) |
A933T |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,462,984 (GRCm39) |
I7406T |
unknown |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Ntng2 |
G |
T |
2: 29,084,998 (GRCm39) |
C535* |
probably null |
Het |
| Omg |
A |
G |
11: 79,393,051 (GRCm39) |
M269T |
probably benign |
Het |
| Or1x6 |
A |
T |
11: 50,939,161 (GRCm39) |
T76S |
possibly damaging |
Het |
| Or52e3 |
A |
T |
7: 102,869,862 (GRCm39) |
*312C |
probably null |
Het |
| Parp2 |
T |
C |
14: 51,056,850 (GRCm39) |
S325P |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,728,528 (GRCm39) |
T2462M |
unknown |
Het |
| Pi4ka |
G |
T |
16: 17,100,165 (GRCm39) |
H1912N |
|
Het |
| Piezo2 |
T |
C |
18: 63,290,302 (GRCm39) |
I152M |
probably benign |
Het |
| Pigv |
A |
T |
4: 133,392,990 (GRCm39) |
L60Q |
probably damaging |
Het |
| Plcz1 |
T |
A |
6: 139,953,481 (GRCm39) |
K379* |
probably null |
Het |
| Poll |
T |
C |
19: 45,542,091 (GRCm39) |
N405S |
probably benign |
Het |
| Pou6f2 |
T |
A |
13: 18,303,615 (GRCm39) |
I467F |
|
Het |
| Pramel11 |
T |
A |
4: 143,623,646 (GRCm39) |
N176I |
probably benign |
Het |
| Psg26 |
T |
C |
7: 18,212,382 (GRCm39) |
I324M |
probably damaging |
Het |
| Ptprh |
T |
A |
7: 4,574,970 (GRCm39) |
I350F |
probably damaging |
Het |
| Slpi |
C |
T |
2: 164,196,817 (GRCm39) |
V126I |
probably benign |
Het |
| Smarca5 |
C |
T |
8: 81,431,258 (GRCm39) |
W986* |
probably null |
Het |
| Sorcs1 |
A |
G |
19: 50,250,733 (GRCm39) |
I366T |
probably damaging |
Het |
| Sv2c |
G |
T |
13: 96,224,745 (GRCm39) |
S188* |
probably null |
Het |
| Sycp2 |
T |
C |
2: 177,996,906 (GRCm39) |
K1099R |
probably damaging |
Het |
| Tdp2 |
C |
A |
13: 25,020,916 (GRCm39) |
Y178* |
probably null |
Het |
| Trabd2b |
A |
G |
4: 114,460,122 (GRCm39) |
E420G |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,294,975 (GRCm39) |
H550Q |
probably benign |
Het |
| Vmn2r66 |
T |
C |
7: 84,654,950 (GRCm39) |
K453R |
probably benign |
Het |
| Vsig10l |
A |
G |
7: 43,112,657 (GRCm39) |
M1V |
probably null |
Het |
| Zfp219 |
A |
T |
14: 52,246,405 (GRCm39) |
S241T |
probably damaging |
Het |
| Zfp24 |
G |
A |
18: 24,147,326 (GRCm39) |
H329Y |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAGCAACTCCATAACAGAAAGG -3'
(R):5'- TCTGCCACTGAGGGAAAACC -3'
Sequencing Primer
(F):5'- TCCATAACAGAAAGGACAAAATCTG -3'
(R):5'- ACTATGCTTTTCTTTTGCCAGAAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation