Incidental Mutation 'IGL02969:Cep70'
| ID |
365739 |
| 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 # |
IGL02969
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
99125420-99182457 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 99180557 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 571
(I571F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093795]
[ENSMUST00000191335]
|
| AlphaFold |
Q6IQY5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093795
AA Change: I571F
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000091312
Gene: ENSMUSG00000056267
AA Change: I571F
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
A |
G |
8: 79,946,866 (GRCm39) |
|
probably benign |
Het |
| Acsbg3 |
A |
T |
17: 57,190,751 (GRCm39) |
T440S |
probably damaging |
Het |
| Akap12 |
T |
A |
10: 4,304,864 (GRCm39) |
V558E |
probably damaging |
Het |
| Atg4c |
T |
C |
4: 99,146,624 (GRCm39) |
|
probably benign |
Het |
| Atg7 |
T |
A |
6: 114,701,884 (GRCm39) |
N673K |
possibly damaging |
Het |
| Brpf3 |
A |
G |
17: 29,040,279 (GRCm39) |
D900G |
probably benign |
Het |
| C2cd5 |
T |
C |
6: 143,025,669 (GRCm39) |
Y176C |
probably damaging |
Het |
| Cir1 |
C |
T |
2: 73,134,120 (GRCm39) |
G150R |
probably null |
Het |
| Cyp46a1 |
T |
C |
12: 108,309,296 (GRCm39) |
V68A |
probably damaging |
Het |
| Dlgap2 |
A |
G |
8: 14,881,579 (GRCm39) |
T883A |
possibly damaging |
Het |
| Dnah2 |
C |
A |
11: 69,412,013 (GRCm39) |
K249N |
possibly damaging |
Het |
| Dnajc11 |
A |
G |
4: 152,062,503 (GRCm39) |
K434R |
probably benign |
Het |
| Eri3 |
A |
G |
4: 117,506,508 (GRCm39) |
Y279C |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
| Ilk |
A |
G |
7: 105,389,547 (GRCm39) |
K85E |
possibly damaging |
Het |
| Insrr |
G |
T |
3: 87,721,498 (GRCm39) |
G1135* |
probably null |
Het |
| Itgax |
T |
A |
7: 127,748,295 (GRCm39) |
M1108K |
probably benign |
Het |
| Mpzl3 |
C |
T |
9: 44,979,514 (GRCm39) |
T155I |
probably benign |
Het |
| Or4f57 |
A |
T |
2: 111,790,912 (GRCm39) |
C169S |
probably damaging |
Het |
| Or6c212 |
A |
T |
10: 129,559,065 (GRCm39) |
M116K |
probably damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Polr2h |
A |
G |
16: 20,537,807 (GRCm39) |
Y68C |
probably damaging |
Het |
| Pramel47 |
C |
T |
5: 95,489,258 (GRCm39) |
P234S |
probably benign |
Het |
| Rhobtb3 |
A |
G |
13: 76,091,550 (GRCm39) |
S2P |
probably damaging |
Het |
| Slc24a5 |
T |
C |
2: 124,925,147 (GRCm39) |
S263P |
probably damaging |
Het |
| Spz1 |
T |
G |
13: 92,711,851 (GRCm39) |
K208N |
possibly damaging |
Het |
| Tbpl2 |
C |
A |
2: 23,981,105 (GRCm39) |
C231F |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,938,440 (GRCm39) |
I869M |
probably damaging |
Het |
| Tesk1 |
G |
A |
4: 43,447,027 (GRCm39) |
E472K |
possibly damaging |
Het |
| Tesk1 |
C |
A |
4: 43,447,026 (GRCm39) |
C471* |
probably null |
Het |
| Thoc2l |
C |
T |
5: 104,667,209 (GRCm39) |
T577I |
probably benign |
Het |
| Tmem213 |
T |
A |
6: 38,092,601 (GRCm39) |
V111E |
probably damaging |
Het |
| Tmem232 |
A |
T |
17: 65,563,558 (GRCm39) |
Y612N |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,729,707 (GRCm39) |
|
probably benign |
Het |
| Vmn2r113 |
G |
A |
17: 23,177,591 (GRCm39) |
V792I |
probably benign |
Het |
| Wdfy1 |
A |
G |
1: 79,691,588 (GRCm39) |
V273A |
probably benign |
Het |
| Wwp1 |
A |
G |
4: 19,623,200 (GRCm39) |
S762P |
probably damaging |
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 |
|
IGL02878:Cep70
|
APN |
9 |
99,163,160 (GRCm39) |
splice site |
probably benign |
|
|
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 |
Incidental Mutation