Incidental Mutation 'IGL01544:Cep120'
ID |
90273 |
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: 0.765)
|
Stock # |
IGL01544
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
53814795-53877680 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 53819033 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 886
(R886H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062433
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049811]
|
AlphaFold |
Q7TSG1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049811
AA Change: R886H
PolyPhen 2
Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000062433 Gene: ENSMUSG00000048799 AA Change: R886H
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 |
|
Meta Mutation Damage Score |
0.1520 |
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arap3 |
G |
A |
18: 38,123,889 (GRCm39) |
R377C |
probably damaging |
Het |
Bbx |
C |
A |
16: 50,095,140 (GRCm39) |
E59* |
probably null |
Het |
Cep350 |
C |
A |
1: 155,828,933 (GRCm39) |
V324L |
probably damaging |
Het |
Cry1 |
T |
A |
10: 84,982,360 (GRCm39) |
K329* |
probably null |
Het |
Dhtkd1 |
T |
C |
2: 5,918,342 (GRCm39) |
N627S |
probably benign |
Het |
Dpp8 |
A |
T |
9: 64,962,270 (GRCm39) |
T437S |
probably benign |
Het |
Elovl1 |
G |
A |
4: 118,288,107 (GRCm39) |
|
probably null |
Het |
Heca |
A |
G |
10: 17,791,715 (GRCm39) |
Y114H |
probably damaging |
Het |
Hrh4 |
A |
G |
18: 13,148,950 (GRCm39) |
N104S |
probably benign |
Het |
Ift80 |
T |
A |
3: 68,898,115 (GRCm39) |
K73N |
probably benign |
Het |
Ina |
T |
C |
19: 47,003,948 (GRCm39) |
V252A |
possibly damaging |
Het |
Klhl36 |
A |
G |
8: 120,596,755 (GRCm39) |
E152G |
possibly damaging |
Het |
Lamp5 |
T |
A |
2: 135,910,990 (GRCm39) |
L241Q |
probably damaging |
Het |
Lrp4 |
G |
A |
2: 91,307,896 (GRCm39) |
R447H |
probably damaging |
Het |
Mmp24 |
G |
A |
2: 155,641,807 (GRCm39) |
G212R |
probably damaging |
Het |
Mpp3 |
A |
G |
11: 101,909,485 (GRCm39) |
V191A |
possibly damaging |
Het |
Mtmr4 |
A |
G |
11: 87,488,437 (GRCm39) |
|
probably benign |
Het |
Mynn |
C |
A |
3: 30,661,854 (GRCm39) |
S312* |
probably null |
Het |
Neb |
T |
A |
2: 52,182,917 (GRCm39) |
I1010F |
possibly damaging |
Het |
Nes |
T |
C |
3: 87,885,271 (GRCm39) |
S1177P |
possibly damaging |
Het |
Noct |
T |
C |
3: 51,155,469 (GRCm39) |
V79A |
probably damaging |
Het |
Rad1 |
A |
G |
15: 10,490,465 (GRCm39) |
D114G |
probably damaging |
Het |
Slc26a9 |
T |
C |
1: 131,687,233 (GRCm39) |
|
probably null |
Het |
Sqor |
G |
A |
2: 122,634,266 (GRCm39) |
|
probably benign |
Het |
Sspo |
G |
T |
6: 48,467,953 (GRCm39) |
W4309L |
probably damaging |
Het |
Thoc7 |
A |
C |
14: 13,953,435 (GRCm38) |
Y72D |
probably damaging |
Het |
Thra |
A |
G |
11: 98,647,754 (GRCm39) |
I43V |
possibly damaging |
Het |
Timm44 |
G |
T |
8: 4,325,888 (GRCm39) |
|
probably benign |
Het |
Trmo |
C |
T |
4: 46,386,169 (GRCm39) |
G119R |
probably damaging |
Het |
Trpc4 |
T |
C |
3: 54,209,567 (GRCm39) |
M644T |
probably damaging |
Het |
Wdr72 |
C |
T |
9: 74,056,007 (GRCm39) |
L300F |
probably damaging |
Het |
Wrn |
T |
C |
8: 33,814,554 (GRCm39) |
T54A |
probably benign |
Het |
|
Other mutations in Cep120 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01774:Cep120
|
APN |
18 |
53,839,902 (GRCm39) |
missense |
possibly damaging |
0.92 |
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 |
2013-12-03 |