Incidental Mutation 'IGL02878:Cep70'
ID |
362730 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cep70
|
Ensembl Gene |
ENSMUSG00000056267 |
Gene Name |
centrosomal protein 70 |
Synonyms |
C030018L16Rik, 6720484E09Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.140)
|
Stock # |
IGL02878
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
99125420-99182457 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 99163160 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139816
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093795]
[ENSMUST00000191014]
[ENSMUST00000191335]
|
AlphaFold |
Q6IQY5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000093795
|
SMART Domains |
Protein: ENSMUSP00000091312 Gene: ENSMUSG00000056267
Domain | Start | End | E-Value | Type |
coiled coil region
|
96 |
210 |
N/A |
INTRINSIC |
coiled coil region
|
278 |
299 |
N/A |
INTRINSIC |
low complexity region
|
319 |
335 |
N/A |
INTRINSIC |
low complexity region
|
528 |
544 |
N/A |
INTRINSIC |
low complexity region
|
591 |
602 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191014
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191335
|
SMART Domains |
Protein: ENSMUSP00000139816 Gene: ENSMUSG00000056267
Domain | Start | End | E-Value | Type |
coiled coil region
|
96 |
210 |
N/A |
INTRINSIC |
coiled coil region
|
278 |
299 |
N/A |
INTRINSIC |
low complexity region
|
319 |
335 |
N/A |
INTRINSIC |
low complexity region
|
528 |
544 |
N/A |
INTRINSIC |
|
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 |
Abca9 |
T |
C |
11: 110,029,155 (GRCm39) |
D801G |
probably benign |
Het |
Abce1 |
T |
C |
8: 80,429,636 (GRCm39) |
H95R |
possibly damaging |
Het |
Axl |
T |
A |
7: 25,458,302 (GRCm39) |
M818L |
probably damaging |
Het |
Cckbr |
C |
T |
7: 105,083,238 (GRCm39) |
A147V |
probably damaging |
Het |
Cdc40 |
T |
C |
10: 40,719,118 (GRCm39) |
D337G |
probably damaging |
Het |
Cpeb1 |
C |
T |
7: 81,007,074 (GRCm39) |
V318I |
probably damaging |
Het |
Crlf1 |
G |
A |
8: 70,956,290 (GRCm39) |
|
probably null |
Het |
Dnah6 |
A |
T |
6: 73,009,570 (GRCm39) |
D3740E |
probably benign |
Het |
Dnajc28 |
C |
T |
16: 91,413,329 (GRCm39) |
R329Q |
possibly damaging |
Het |
Ehmt2 |
T |
C |
17: 35,129,743 (GRCm39) |
Y946H |
probably damaging |
Het |
Gapdhs |
C |
T |
7: 30,429,304 (GRCm39) |
|
probably benign |
Het |
Gpr61 |
A |
T |
3: 108,057,344 (GRCm39) |
L439H |
probably damaging |
Het |
Klf9 |
G |
T |
19: 23,119,633 (GRCm39) |
|
probably benign |
Het |
Krt73 |
T |
C |
15: 101,707,261 (GRCm39) |
Y309C |
probably damaging |
Het |
Lrrk1 |
T |
C |
7: 65,912,311 (GRCm39) |
M1750V |
probably benign |
Het |
Mc1r |
G |
T |
8: 124,134,369 (GRCm39) |
G41C |
probably damaging |
Het |
Mecr |
C |
A |
4: 131,582,019 (GRCm39) |
A133E |
probably damaging |
Het |
Mon2 |
T |
C |
10: 122,842,896 (GRCm39) |
N1511S |
probably benign |
Het |
Mrpl13 |
A |
T |
15: 55,403,595 (GRCm39) |
L106* |
probably null |
Het |
Mrpl48 |
A |
T |
7: 100,223,720 (GRCm39) |
V1E |
possibly damaging |
Het |
Myo1c |
T |
A |
11: 75,559,859 (GRCm39) |
W683R |
possibly damaging |
Het |
Myo9a |
G |
A |
9: 59,815,583 (GRCm39) |
|
probably null |
Het |
Myrfl |
A |
T |
10: 116,613,310 (GRCm39) |
I831K |
possibly damaging |
Het |
Neurl4 |
T |
A |
11: 69,797,657 (GRCm39) |
Y671N |
probably damaging |
Het |
Opalin |
A |
T |
19: 41,056,108 (GRCm39) |
D62E |
probably benign |
Het |
Or1j18 |
A |
T |
2: 36,624,489 (GRCm39) |
D52V |
probably damaging |
Het |
Or7a41 |
G |
T |
10: 78,871,392 (GRCm39) |
C254F |
probably benign |
Het |
Otoa |
T |
C |
7: 120,743,076 (GRCm39) |
F768L |
probably damaging |
Het |
Pde4b |
T |
A |
4: 102,458,836 (GRCm39) |
N497K |
probably damaging |
Het |
Plcl2 |
T |
A |
17: 50,914,383 (GRCm39) |
L464Q |
probably damaging |
Het |
Rfc3 |
A |
G |
5: 151,566,379 (GRCm39) |
*357R |
probably null |
Het |
Ryr2 |
A |
G |
13: 11,933,205 (GRCm39) |
S89P |
probably benign |
Het |
Sema3b |
C |
T |
9: 107,478,192 (GRCm39) |
V398I |
probably damaging |
Het |
Setd3 |
A |
G |
12: 108,074,814 (GRCm39) |
|
probably null |
Het |
Sgsh |
T |
C |
11: 119,237,384 (GRCm39) |
D410G |
probably damaging |
Het |
Slc9a3 |
G |
T |
13: 74,313,476 (GRCm39) |
E730* |
probably null |
Het |
Sptb |
A |
G |
12: 76,667,527 (GRCm39) |
S857P |
probably benign |
Het |
Tmem132c |
T |
C |
5: 127,640,154 (GRCm39) |
L775P |
probably damaging |
Het |
Togaram1 |
T |
C |
12: 65,039,400 (GRCm39) |
V1158A |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,607,222 (GRCm39) |
F17934L |
probably damaging |
Het |
Ube3b |
T |
C |
5: 114,542,778 (GRCm39) |
|
probably null |
Het |
Ydjc |
A |
G |
16: 16,965,469 (GRCm39) |
E111G |
possibly damaging |
Het |
Zp3r |
T |
A |
1: 130,510,588 (GRCm39) |
H443L |
probably benign |
Het |
|
Other mutations in Cep70 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01445:Cep70
|
APN |
9 |
99,180,553 (GRCm39) |
unclassified |
probably benign |
|
IGL02719:Cep70
|
APN |
9 |
99,157,775 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02969:Cep70
|
APN |
9 |
99,180,557 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0426:Cep70
|
UTSW |
9 |
99,179,737 (GRCm39) |
missense |
probably benign |
0.02 |
R0970:Cep70
|
UTSW |
9 |
99,157,652 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1238:Cep70
|
UTSW |
9 |
99,136,318 (GRCm39) |
missense |
probably benign |
0.05 |
R1462:Cep70
|
UTSW |
9 |
99,145,773 (GRCm39) |
missense |
probably benign |
0.20 |
R1462:Cep70
|
UTSW |
9 |
99,145,773 (GRCm39) |
missense |
probably benign |
0.20 |
R2141:Cep70
|
UTSW |
9 |
99,178,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R3922:Cep70
|
UTSW |
9 |
99,157,632 (GRCm39) |
makesense |
probably null |
|
R3964:Cep70
|
UTSW |
9 |
99,180,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R3965:Cep70
|
UTSW |
9 |
99,180,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R4044:Cep70
|
UTSW |
9 |
99,144,662 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4174:Cep70
|
UTSW |
9 |
99,128,366 (GRCm39) |
start gained |
probably benign |
|
R4659:Cep70
|
UTSW |
9 |
99,178,394 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4672:Cep70
|
UTSW |
9 |
99,136,365 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4839:Cep70
|
UTSW |
9 |
99,178,138 (GRCm39) |
missense |
probably benign |
0.16 |
R5108:Cep70
|
UTSW |
9 |
99,145,865 (GRCm39) |
splice site |
probably null |
|
R5288:Cep70
|
UTSW |
9 |
99,163,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R5386:Cep70
|
UTSW |
9 |
99,163,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R5802:Cep70
|
UTSW |
9 |
99,178,458 (GRCm39) |
missense |
probably damaging |
0.96 |
R5934:Cep70
|
UTSW |
9 |
99,136,318 (GRCm39) |
missense |
probably benign |
0.05 |
R6076:Cep70
|
UTSW |
9 |
99,180,558 (GRCm39) |
missense |
probably damaging |
1.00 |
R6848:Cep70
|
UTSW |
9 |
99,144,954 (GRCm39) |
missense |
probably benign |
0.34 |
R6977:Cep70
|
UTSW |
9 |
99,173,729 (GRCm39) |
missense |
probably damaging |
1.00 |
R7286:Cep70
|
UTSW |
9 |
99,157,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R7437:Cep70
|
UTSW |
9 |
99,173,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R7754:Cep70
|
UTSW |
9 |
99,163,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R7879:Cep70
|
UTSW |
9 |
99,144,686 (GRCm39) |
missense |
possibly damaging |
0.54 |
R8063:Cep70
|
UTSW |
9 |
99,178,175 (GRCm39) |
missense |
probably benign |
0.02 |
R8299:Cep70
|
UTSW |
9 |
99,144,914 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8466:Cep70
|
UTSW |
9 |
99,160,073 (GRCm39) |
critical splice donor site |
probably null |
|
R8684:Cep70
|
UTSW |
9 |
99,145,842 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9017:Cep70
|
UTSW |
9 |
99,181,829 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Posted On |
2015-12-18 |