Incidental Mutation 'IGL01445:Cep70'
| ID |
84399 |
| 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: 0.114)
|
| Stock # |
IGL01445
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
99125420-99182457 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 99180553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093795]
[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 |
noncoding transcript
Transcript: ENSMUST00000187883
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191492
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
A |
G |
19: 31,923,198 (GRCm39) |
I499M |
probably benign |
Het |
| Aldh1l2 |
A |
T |
10: 83,356,126 (GRCm39) |
|
probably benign |
Het |
| Arid3a |
A |
G |
10: 79,786,468 (GRCm39) |
D407G |
probably damaging |
Het |
| Aunip |
A |
G |
4: 134,250,318 (GRCm39) |
T88A |
probably benign |
Het |
| Blzf1 |
A |
T |
1: 164,130,189 (GRCm39) |
N47K |
possibly damaging |
Het |
| Cd177 |
G |
T |
7: 24,451,496 (GRCm39) |
T469N |
possibly damaging |
Het |
| Cntn5 |
T |
C |
9: 9,693,489 (GRCm39) |
|
probably benign |
Het |
| Cntnap2 |
C |
T |
6: 47,169,947 (GRCm39) |
H1138Y |
probably benign |
Het |
| Coa5 |
G |
A |
1: 37,459,659 (GRCm39) |
|
probably benign |
Het |
| Coro1a |
T |
C |
7: 126,300,701 (GRCm39) |
T168A |
probably benign |
Het |
| Ecpas |
T |
C |
4: 58,833,988 (GRCm39) |
T831A |
probably benign |
Het |
| Fbxo43 |
A |
G |
15: 36,151,972 (GRCm39) |
Y582H |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,826,299 (GRCm39) |
V1602A |
probably benign |
Het |
| Nbeal1 |
G |
T |
1: 60,281,784 (GRCm39) |
|
probably null |
Het |
| Or4d5 |
C |
T |
9: 40,012,608 (GRCm39) |
M59I |
probably benign |
Het |
| Or52a33 |
A |
G |
7: 103,289,039 (GRCm39) |
Y103H |
probably damaging |
Het |
| Pprc1 |
C |
T |
19: 46,053,671 (GRCm39) |
|
probably benign |
Het |
| Prom2 |
T |
C |
2: 127,381,433 (GRCm39) |
|
probably benign |
Het |
| Slc9a2 |
A |
G |
1: 40,757,970 (GRCm39) |
I170V |
possibly damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,141,504 (GRCm39) |
Y1120C |
probably damaging |
Het |
| Tmem63a |
C |
T |
1: 180,774,196 (GRCm39) |
R18C |
probably damaging |
Het |
| Tnk1 |
A |
T |
11: 69,746,731 (GRCm39) |
|
probably benign |
Het |
| Top2a |
A |
T |
11: 98,901,856 (GRCm39) |
L458Q |
probably damaging |
Het |
| Tpsg1 |
C |
A |
17: 25,591,472 (GRCm39) |
S24* |
probably null |
Het |
| Vmn2r72 |
T |
C |
7: 85,398,854 (GRCm39) |
M500V |
probably benign |
Het |
|
| Other mutations in Cep70 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02719:Cep70
|
APN |
9 |
99,157,775 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02878:Cep70
|
APN |
9 |
99,163,160 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2013-11-11 |
Incidental Mutation