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: 0.773) question?
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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