Incidental Mutation 'IGL01862:Cep120'
ID 178392
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 # IGL01862
Quality Score
Status
Chromosome 18
Chromosomal Location 53814795-53877680 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 53847839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 673 (S673R)
Ref Sequence ENSEMBL: ENSMUSP00000062433 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049811]
AlphaFold Q7TSG1
Predicted Effect probably benign
Transcript: ENSMUST00000049811
AA Change: S673R

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000062433
Gene: ENSMUSG00000048799
AA Change: S673R

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
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G T 11: 109,837,997 (GRCm39) S1085* probably null Het
Akap9 T G 5: 4,001,705 (GRCm39) S94A probably damaging Het
Akap9 T A 5: 4,115,856 (GRCm39) N3425K probably damaging Het
Anapc7 T A 5: 122,578,182 (GRCm39) I389N probably benign Het
Aqp7 G A 4: 41,045,321 (GRCm39) R20* probably null Het
Cacna1h C T 17: 25,602,457 (GRCm39) G1524R probably damaging Het
Cacng4 T C 11: 107,685,196 (GRCm39) Y32C probably damaging Het
Cep162 T C 9: 87,135,986 (GRCm39) E19G possibly damaging Het
Cpxm2 C T 7: 131,661,540 (GRCm39) V416I probably benign Het
Dapk1 A G 13: 60,874,424 (GRCm39) T427A probably benign Het
Ecm1 A T 3: 95,641,586 (GRCm39) D549E probably benign Het
Efemp1 T A 11: 28,871,428 (GRCm39) N342K probably damaging Het
Erc2 T C 14: 27,993,526 (GRCm39) probably benign Het
Fhip2b C T 14: 70,825,130 (GRCm39) R402H probably benign Het
Galnt13 T C 2: 54,747,926 (GRCm39) V269A probably damaging Het
Gm6465 T G 5: 11,899,020 (GRCm39) L171R probably damaging Het
Gpatch1 A G 7: 34,994,703 (GRCm39) V521A probably benign Het
Heatr5b A T 17: 79,103,914 (GRCm39) V1087E possibly damaging Het
Ikzf2 A T 1: 69,578,057 (GRCm39) V484D probably damaging Het
Ints4 T A 7: 97,190,360 (GRCm39) V953E probably damaging Het
Iqce T C 5: 140,685,480 (GRCm39) D15G possibly damaging Het
Kif3a T A 11: 53,461,368 (GRCm39) N4K possibly damaging Het
Lrch4 A T 5: 137,635,271 (GRCm39) I254F probably damaging Het
Ly75 A T 2: 60,129,516 (GRCm39) V1623D probably damaging Het
Mapt T A 11: 104,180,828 (GRCm39) probably benign Het
Mast1 A T 8: 85,639,875 (GRCm39) probably null Het
Mcc G T 18: 44,892,363 (GRCm39) Q84K probably benign Het
Mgat4f G A 1: 134,318,349 (GRCm39) V374I probably benign Het
Mtfr2 G A 10: 20,224,149 (GRCm39) V28M probably benign Het
Myh8 T A 11: 67,180,520 (GRCm39) Y585* probably null Het
Napsa T C 7: 44,231,917 (GRCm39) V202A probably damaging Het
Nsd2 A G 5: 34,001,080 (GRCm39) K199R probably null Het
Ntpcr C T 8: 126,462,837 (GRCm39) A18V probably benign Het
Or2aj4 A T 16: 19,385,426 (GRCm39) M69K probably damaging Het
Or2g25 G T 17: 37,970,368 (GRCm39) N285K probably damaging Het
Or56b35 T A 7: 104,963,439 (GRCm39) I76N probably damaging Het
Or5g9 G T 2: 85,552,472 (GRCm39) C241F probably damaging Het
Or8b9 A G 9: 37,766,477 (GRCm39) D121G probably damaging Het
Os9 A G 10: 126,935,573 (GRCm39) V299A probably benign Het
Pcdhb7 T C 18: 37,476,915 (GRCm39) S684P possibly damaging Het
Phf19 A C 2: 34,787,067 (GRCm39) probably null Het
Pkd1l3 G A 8: 110,357,908 (GRCm39) probably null Het
Pkhd1 A G 1: 20,429,134 (GRCm39) I2422T probably damaging Het
Plxna2 T A 1: 194,326,258 (GRCm39) V64E possibly damaging Het
Psme4 T A 11: 30,762,038 (GRCm39) C459* probably null Het
Ptk6 T C 2: 180,841,433 (GRCm39) S159G probably benign Het
Rhd T C 4: 134,617,650 (GRCm39) I329T possibly damaging Het
Scfd1 A G 12: 51,492,494 (GRCm39) Y601C probably damaging Het
Shroom3 T C 5: 93,110,148 (GRCm39) S1753P probably damaging Het
Slc8a1 A C 17: 81,749,630 (GRCm39) probably null Het
Spg7 T A 8: 123,803,669 (GRCm39) L233Q probably damaging Het
Strip1 C A 3: 107,529,198 (GRCm39) R353L probably damaging Het
Ubr1 T C 2: 120,764,823 (GRCm39) N544D possibly damaging Het
Ubr4 A G 4: 139,204,469 (GRCm39) T4794A possibly damaging Het
Usp24 A G 4: 106,266,095 (GRCm39) probably benign Het
Vmn1r193 A T 13: 22,403,984 (GRCm39) C3S probably benign Het
Yju2b G T 8: 84,987,163 (GRCm39) probably benign Het
Zdhhc5 C T 2: 84,520,836 (GRCm39) R447H probably benign Het
Zfp202 A G 9: 40,123,124 (GRCm39) I629V probably benign Het
Zfp462 T A 4: 55,023,441 (GRCm39) C990S 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
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 2014-05-07