Incidental Mutation 'R0019:Cep120'
ID 15431
Institutional Source Beutler Lab
Gene Symbol Cep120
Ensembl Gene ENSMUSG00000048799
Gene Name centrosomal protein 120
Synonyms Ccdc100
MMRRC Submission 038314-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.773) question?
Stock # R0019 (G1)
Quality Score
Status Validated
Chromosome 18
Chromosomal Location 53814795-53877680 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 53842119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000062433 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049811]
AlphaFold Q7TSG1
Predicted Effect probably benign
Transcript: ENSMUST00000049811
SMART Domains Protein: ENSMUSP00000062433
Gene: ENSMUSG00000048799

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
Coding Region Coverage
  • 1x: 83.5%
  • 3x: 78.2%
  • 10x: 64.4%
  • 20x: 48.4%
Validation Efficiency 91% (93/102)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13a T A 5: 114,924,142 (GRCm39) probably benign Het
Arhgef12 A T 9: 42,889,529 (GRCm39) W1029R probably damaging Het
Aunip T A 4: 134,250,823 (GRCm39) L256* probably null Het
Bahcc1 T A 11: 120,180,597 (GRCm39) M2607K probably damaging Het
Bltp3b A G 10: 89,611,831 (GRCm39) T5A probably damaging Het
Cacng6 G T 7: 3,480,384 (GRCm39) M152I possibly damaging Het
D130043K22Rik T A 13: 25,064,795 (GRCm39) V737D probably damaging Het
Dock10 A G 1: 80,583,642 (GRCm39) S187P probably damaging Het
Eogt C T 6: 97,111,234 (GRCm39) probably benign Het
Fasn A T 11: 120,698,824 (GRCm39) probably benign Het
Frem2 C T 3: 53,431,099 (GRCm39) V2745M probably damaging Het
Fshb T C 2: 106,887,690 (GRCm39) S110G probably benign Het
Gpi1 A G 7: 33,920,324 (GRCm39) Y144H probably damaging Het
Gsap T C 5: 21,475,620 (GRCm39) probably benign Het
Helz2 C A 2: 180,874,552 (GRCm39) G1981C probably damaging Het
Herc3 T C 6: 58,862,050 (GRCm39) probably benign Het
Il1r2 C T 1: 40,164,210 (GRCm39) T359M probably damaging Het
Il6st T C 13: 112,637,682 (GRCm39) C563R possibly damaging Het
Irs1 T A 1: 82,264,977 (GRCm39) K1080* probably null Het
Itpr1 T C 6: 108,331,587 (GRCm39) V182A probably damaging Het
Kalrn C T 16: 34,018,884 (GRCm39) probably benign Het
Kcnj11 G A 7: 45,748,363 (GRCm39) A320V probably benign Het
Lrig1 T A 6: 94,584,330 (GRCm39) R905* probably null Het
Lrrc43 T C 5: 123,639,378 (GRCm39) L469P probably damaging Het
Med29 A T 7: 28,090,501 (GRCm39) probably benign Het
Mroh7 T C 4: 106,578,623 (GRCm39) I18M probably benign Het
Nalcn A C 14: 123,744,901 (GRCm39) C376G probably benign Het
Ncor2 C T 5: 125,196,545 (GRCm39) probably null Het
Nek1 T A 8: 61,542,768 (GRCm39) M786K probably benign Het
Nrxn2 A G 19: 6,559,987 (GRCm39) probably benign Het
Nxpe2 T C 9: 48,231,080 (GRCm39) I430V probably benign Het
Pcolce2 A G 9: 95,577,017 (GRCm39) probably null Het
Pdcl A T 2: 37,241,932 (GRCm39) L273M probably damaging Het
Pml A T 9: 58,127,776 (GRCm39) S610R probably damaging Het
Polk C A 13: 96,641,124 (GRCm39) R144S probably damaging Het
Rlf A G 4: 121,003,769 (GRCm39) V1737A possibly damaging Het
Rubcnl T A 14: 75,285,703 (GRCm39) probably benign Het
Scn3a A T 2: 65,292,045 (GRCm39) V1567E probably damaging Het
Scyl2 A G 10: 89,495,183 (GRCm39) I296T probably benign Het
Slc15a3 A G 19: 10,833,404 (GRCm39) I474V probably damaging Het
Sstr1 T C 12: 58,259,935 (GRCm39) L186S probably damaging Het
Tmem108 A T 9: 103,366,539 (GRCm39) V484D possibly damaging Het
Trim69 A T 2: 122,004,958 (GRCm39) probably null Het
Trim80 T G 11: 115,338,768 (GRCm39) Y533D probably damaging Het
Unc13b T C 4: 43,096,990 (GRCm39) I121T possibly damaging Het
Usp40 T C 1: 87,906,133 (GRCm39) T701A probably benign Het
Xpr1 A G 1: 155,208,145 (GRCm39) probably benign Het
Ywhab T A 2: 163,858,090 (GRCm39) I219N probably damaging Het
Zfp219 G T 14: 52,246,485 (GRCm39) T169K probably damaging Het
Other mutations in Cep120
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01544:Cep120 APN 18 53,819,033 (GRCm39) missense probably benign 0.24
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
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 2012-12-21