Incidental Mutation 'IGL01906:Cep120'
ID 179682
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) question?
Stock # IGL01906
Quality Score
Status
Chromosome 18
Chromosomal Location 53814795-53877680 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 53847984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 625 (V625E)
Ref Sequence ENSEMBL: ENSMUSP00000062433 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049811]
AlphaFold Q7TSG1
Predicted Effect probably benign
Transcript: ENSMUST00000049811
AA Change: V625E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000062433
Gene: ENSMUSG00000048799
AA Change: V625E

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,166,225 (GRCm39) Q24L probably damaging Het
Adam1b A T 5: 121,639,538 (GRCm39) N502K probably benign Het
Adam6a T A 12: 113,507,951 (GRCm39) M108K probably benign Het
Akr1b10 A G 6: 34,364,746 (GRCm39) K69R probably benign Het
Ap5b1 T A 19: 5,621,007 (GRCm39) L809* probably null Het
Asxl3 A T 18: 22,655,338 (GRCm39) H1116L probably benign Het
Birc6 A G 17: 74,945,353 (GRCm39) T2794A probably damaging Het
Bst1 T C 5: 43,994,861 (GRCm39) F248L probably damaging Het
Cgnl1 T C 9: 71,631,849 (GRCm39) M501V probably benign Het
Col19a1 T A 1: 24,356,510 (GRCm39) D661V probably damaging Het
Copb2 A T 9: 98,462,383 (GRCm39) E456V probably benign Het
Csk A G 9: 57,536,304 (GRCm39) I201T probably damaging Het
Cttnbp2 G T 6: 18,378,375 (GRCm39) S977* probably null Het
Ddr2 A G 1: 169,809,668 (GRCm39) W770R probably damaging Het
Dnah7b T C 1: 46,214,613 (GRCm39) I1126T probably damaging Het
Ephb4 A T 5: 137,359,456 (GRCm39) E342V probably damaging Het
Erc2 T A 14: 27,863,263 (GRCm39) L496Q probably damaging Het
Faim2 G A 15: 99,412,314 (GRCm39) T140I probably damaging Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Haus3 A C 5: 34,325,667 (GRCm39) probably benign Het
Hmcn1 T C 1: 150,543,638 (GRCm39) T2846A probably benign Het
Mto1 T C 9: 78,372,213 (GRCm39) V561A probably benign Het
Myb T C 10: 21,028,533 (GRCm39) Y110C probably damaging Het
Or4k36 T C 2: 111,146,246 (GRCm39) C141R probably damaging Het
Plcd3 T C 11: 102,967,682 (GRCm39) Y420C probably damaging Het
Plk4 G T 3: 40,764,816 (GRCm39) M603I probably null Het
Scgb1b24 T C 7: 33,443,538 (GRCm39) C66R probably damaging Het
Sec23a T C 12: 59,053,830 (GRCm39) Y56C probably damaging Het
Setd1b C A 5: 123,295,730 (GRCm39) D1099E unknown Het
Sh2d7 G A 9: 54,446,750 (GRCm39) probably benign Het
Slc30a10 A T 1: 185,188,593 (GRCm39) K221* probably null Het
Slc5a1 T C 5: 33,311,997 (GRCm39) L463P probably damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Strc T C 2: 121,208,115 (GRCm39) T419A probably benign Het
Styxl2 A C 1: 165,927,092 (GRCm39) L840R probably damaging Het
Ttc39a T C 4: 109,278,591 (GRCm39) M82T probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vps13b T C 15: 35,639,993 (GRCm39) probably benign 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
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