Incidental Mutation 'IGL01774:Cep120'
| ID |
154053 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cep120
|
| Ensembl Gene |
ENSMUSG00000048799 |
| Gene Name |
centrosomal protein 120 |
| Synonyms |
Ccdc100 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.773)
|
| Stock # |
IGL01774
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
53814795-53877680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53839902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 786
(L786P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062433
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049811]
|
| AlphaFold |
Q7TSG1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049811
AA Change: L786P
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000062433
Gene: ENSMUSG00000048799
AA Change: L786P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:C2
|
9 |
114 |
4.8e-5 |
PFAM |
|
Pfam:DUF3668
|
118 |
340 |
1e-96 |
PFAM |
|
low complexity region
|
378 |
396 |
N/A |
INTRINSIC |
|
Pfam:C2
|
520 |
568 |
1.9e-3 |
PFAM |
|
low complexity region
|
632 |
642 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
661 |
803 |
2e-4 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele show embryonic growth arrest at E8.5 and die during organogenesis exhibiting abnormal direction of heart looping. Primary mouse embryonic fibroblasts lack cilia and either one or both centrioles. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,077,058 (GRCm39) |
D708G |
probably damaging |
Het |
| Abca16 |
T |
C |
7: 120,021,024 (GRCm39) |
|
probably benign |
Het |
| Abcc5 |
T |
C |
16: 20,197,207 (GRCm39) |
D674G |
probably damaging |
Het |
| Abr |
A |
G |
11: 76,355,125 (GRCm39) |
|
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,619,363 (GRCm39) |
I4T |
possibly damaging |
Het |
| Btla |
A |
G |
16: 45,070,911 (GRCm39) |
N290S |
possibly damaging |
Het |
| Catip |
C |
A |
1: 74,407,642 (GRCm39) |
R325S |
probably damaging |
Het |
| Cnot8 |
A |
G |
11: 58,006,133 (GRCm39) |
I221V |
probably benign |
Het |
| Eloc |
A |
T |
1: 16,716,013 (GRCm39) |
D37E |
probably benign |
Het |
| Fabp12 |
A |
C |
3: 10,312,754 (GRCm39) |
N89K |
probably benign |
Het |
| Ficd |
G |
T |
5: 113,877,073 (GRCm39) |
R416L |
probably damaging |
Het |
| Frmd3 |
T |
C |
4: 74,106,075 (GRCm39) |
Y574H |
probably damaging |
Het |
| Frmd4a |
T |
C |
2: 4,540,047 (GRCm39) |
|
probably benign |
Het |
| Gatc |
G |
A |
5: 115,479,076 (GRCm39) |
Q45* |
probably null |
Het |
| Gm5414 |
T |
C |
15: 101,535,410 (GRCm39) |
D225G |
probably benign |
Het |
| Itpkc |
G |
T |
7: 26,911,795 (GRCm39) |
A592E |
probably benign |
Het |
| Kl |
G |
T |
5: 150,911,948 (GRCm39) |
V566L |
probably benign |
Het |
| Lpin1 |
T |
A |
12: 16,608,477 (GRCm39) |
D545V |
probably damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,692,880 (GRCm39) |
Y483C |
probably damaging |
Het |
| Neb |
C |
T |
2: 52,112,982 (GRCm39) |
W67* |
probably null |
Het |
| Nrarp |
T |
C |
2: 25,071,298 (GRCm39) |
V59A |
possibly damaging |
Het |
| Nuf2 |
G |
A |
1: 169,333,641 (GRCm39) |
T345M |
probably benign |
Het |
| Or52n20 |
T |
C |
7: 104,320,149 (GRCm39) |
I80T |
probably benign |
Het |
| Pacs2 |
T |
A |
12: 113,020,462 (GRCm39) |
H278Q |
probably benign |
Het |
| Pot1a |
T |
C |
6: 25,753,276 (GRCm39) |
K420R |
probably benign |
Het |
| Rag2 |
A |
G |
2: 101,460,392 (GRCm39) |
Y234C |
probably damaging |
Het |
| Ralgds |
C |
T |
2: 28,440,554 (GRCm39) |
Q88* |
probably null |
Het |
| Rictor |
T |
C |
15: 6,799,258 (GRCm39) |
S365P |
probably damaging |
Het |
| Slco1a1 |
G |
A |
6: 141,871,339 (GRCm39) |
Q276* |
probably null |
Het |
| Tas2r134 |
C |
T |
2: 51,518,160 (GRCm39) |
T213I |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,148,358 (GRCm39) |
I349T |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,907,813 (GRCm39) |
S1286P |
probably damaging |
Het |
| Trafd1 |
A |
G |
5: 121,513,113 (GRCm39) |
V375A |
possibly damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,803,889 (GRCm39) |
I229L |
probably benign |
Het |
| Vnn1 |
T |
C |
10: 23,776,608 (GRCm39) |
Y320H |
probably benign |
Het |
| Zfp990 |
T |
C |
4: 145,263,518 (GRCm39) |
V172A |
probably benign |
Het |
|
| Other mutations in Cep120 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01544:Cep120
|
APN |
18 |
53,819,033 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01862:Cep120
|
APN |
18 |
53,847,839 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01906:Cep120
|
APN |
18 |
53,847,984 (GRCm39) |
missense |
probably benign |
|
|
IGL01941:Cep120
|
APN |
18 |
53,856,220 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02952:Cep120
|
APN |
18 |
53,816,300 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03248:Cep120
|
APN |
18 |
53,868,844 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03379:Cep120
|
APN |
18 |
53,842,208 (GRCm39) |
missense |
probably benign |
|
|
R0019:Cep120
|
UTSW |
18 |
53,842,119 (GRCm39) |
splice site |
probably benign |
|
|
R0039:Cep120
|
UTSW |
18 |
53,819,033 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0763:Cep120
|
UTSW |
18 |
53,854,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1015:Cep120
|
UTSW |
18 |
53,836,193 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1340:Cep120
|
UTSW |
18 |
53,857,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1507:Cep120
|
UTSW |
18 |
53,830,729 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1649:Cep120
|
UTSW |
18 |
53,857,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1727:Cep120
|
UTSW |
18 |
53,860,801 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1739:Cep120
|
UTSW |
18 |
53,852,286 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1873:Cep120
|
UTSW |
18 |
53,871,560 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1913:Cep120
|
UTSW |
18 |
53,856,358 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1968:Cep120
|
UTSW |
18 |
53,856,313 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1995:Cep120
|
UTSW |
18 |
53,873,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2042:Cep120
|
UTSW |
18 |
53,868,814 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2074:Cep120
|
UTSW |
18 |
53,852,384 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2116:Cep120
|
UTSW |
18 |
53,873,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2215:Cep120
|
UTSW |
18 |
53,860,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2697:Cep120
|
UTSW |
18 |
53,873,197 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3813:Cep120
|
UTSW |
18 |
53,873,284 (GRCm39) |
splice site |
probably benign |
|
|
R4012:Cep120
|
UTSW |
18 |
53,871,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4368:Cep120
|
UTSW |
18 |
53,818,957 (GRCm39) |
splice site |
probably null |
|
|
R4615:Cep120
|
UTSW |
18 |
53,847,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4772:Cep120
|
UTSW |
18 |
53,851,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4780:Cep120
|
UTSW |
18 |
53,857,608 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5195:Cep120
|
UTSW |
18 |
53,854,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5991:Cep120
|
UTSW |
18 |
53,854,870 (GRCm39) |
missense |
probably benign |
|
|
R6156:Cep120
|
UTSW |
18 |
53,836,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6188:Cep120
|
UTSW |
18 |
53,857,529 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6688:Cep120
|
UTSW |
18 |
53,857,608 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6961:Cep120
|
UTSW |
18 |
53,836,277 (GRCm39) |
nonsense |
probably null |
|
|
R7143:Cep120
|
UTSW |
18 |
53,816,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7282:Cep120
|
UTSW |
18 |
53,873,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7813:Cep120
|
UTSW |
18 |
53,871,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7818:Cep120
|
UTSW |
18 |
53,856,175 (GRCm39) |
missense |
probably benign |
|
|
R8677:Cep120
|
UTSW |
18 |
53,871,633 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8724:Cep120
|
UTSW |
18 |
53,856,199 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9164:Cep120
|
UTSW |
18 |
53,852,318 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9225:Cep120
|
UTSW |
18 |
53,839,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9300:Cep120
|
UTSW |
18 |
53,852,369 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9312:Cep120
|
UTSW |
18 |
53,860,713 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9377:Cep120
|
UTSW |
18 |
53,851,592 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9390:Cep120
|
UTSW |
18 |
53,839,984 (GRCm39) |
nonsense |
probably null |
|
|
R9499:Cep120
|
UTSW |
18 |
53,819,033 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9551:Cep120
|
UTSW |
18 |
53,819,033 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2014-02-04 |
Incidental Mutation