Incidental Mutation 'IGL01941:Cep120'
ID 181160
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 # IGL01941
Quality Score
Status
Chromosome 18
Chromosomal Location 53814795-53877680 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53856220 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 399 (D399G)
Ref Sequence ENSEMBL: ENSMUSP00000062433 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049811]
AlphaFold Q7TSG1
Predicted Effect probably benign
Transcript: ENSMUST00000049811
AA Change: D399G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000062433
Gene: ENSMUSG00000048799
AA Change: D399G

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624G23Rik A T 12: 24,094,802 (GRCm39) L123Q probably benign Het
Abca2 C T 2: 25,333,107 (GRCm39) S1602F probably benign Het
Abcc9 C A 6: 142,551,630 (GRCm39) C1191F probably damaging Het
Adam3 G T 8: 25,171,462 (GRCm39) probably benign Het
Aldh1l1 G T 6: 90,539,677 (GRCm39) G202V probably damaging Het
Ankrd46 T C 15: 36,486,083 (GRCm39) N57D possibly damaging Het
Asic1 A T 15: 99,596,982 (GRCm39) H548L possibly damaging Het
Atpaf2 A G 11: 60,294,724 (GRCm39) I233T probably benign Het
Ccdc185 G T 1: 182,575,769 (GRCm39) Q307K probably benign Het
Cnn2 G A 10: 79,828,388 (GRCm39) V122M probably benign Het
Dgkd T C 1: 87,852,281 (GRCm39) S472P probably damaging Het
Dock5 A C 14: 68,049,681 (GRCm39) I701S probably damaging Het
Efl1 A G 7: 82,347,184 (GRCm39) E570G probably benign Het
Eln G A 5: 134,747,024 (GRCm39) probably benign Het
Fat2 A G 11: 55,202,831 (GRCm39) V81A probably benign Het
Fbxw21 T G 9: 108,977,224 (GRCm39) I162L probably benign Het
Fhl2 G A 1: 43,170,832 (GRCm39) Q161* probably null Het
Gabrg2 A G 11: 41,862,548 (GRCm39) Y179H probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Grik5 A T 7: 24,764,607 (GRCm39) I152N probably damaging Het
H2-Ab1 A T 17: 34,486,408 (GRCm39) K156* probably null Het
Hecw1 T C 13: 14,490,895 (GRCm39) Y699C probably benign Het
Ipo9 A C 1: 135,335,811 (GRCm39) V202G possibly damaging Het
Itprid1 A G 6: 55,945,030 (GRCm39) R584G probably benign Het
Jmjd6 A T 11: 116,732,184 (GRCm39) probably null Het
Lama5 A G 2: 179,834,185 (GRCm39) I1416T possibly damaging Het
Matn1 T C 4: 130,679,572 (GRCm39) probably benign Het
Mavs T C 2: 131,088,525 (GRCm39) V443A probably damaging Het
Mpdz A T 4: 81,204,624 (GRCm39) S1798R possibly damaging Het
Muc6 A C 7: 141,218,497 (GRCm39) S2059A probably benign Het
Or4a78 A T 2: 89,497,812 (GRCm39) C139* probably null Het
Otud7b G T 3: 96,062,776 (GRCm39) G672C probably benign Het
Palld T A 8: 61,988,734 (GRCm39) T572S probably benign Het
Pde6b T A 5: 108,570,902 (GRCm39) V379E probably benign Het
Peak1 A G 9: 56,166,059 (GRCm39) V623A probably damaging Het
Prr12 C T 7: 44,698,083 (GRCm39) probably benign Het
Rxra T C 2: 27,644,253 (GRCm39) I315T probably damaging Het
Slc11a1 C T 1: 74,416,338 (GRCm39) A55V probably damaging Het
Slitrk3 T C 3: 72,958,404 (GRCm39) N123D possibly damaging Het
Smr2l A G 5: 88,430,301 (GRCm39) S66G probably benign Het
Spcs1 A G 14: 30,722,829 (GRCm39) M82T probably damaging Het
Sspo A G 6: 48,472,116 (GRCm39) E113G probably benign Het
Syne2 A G 12: 76,013,994 (GRCm39) K3062E probably benign Het
Traf3ip2 T C 10: 39,510,656 (GRCm39) S310P probably benign Het
Ubp1 T C 9: 113,785,826 (GRCm39) L167S probably damaging Het
Vmn1r196 T A 13: 22,477,869 (GRCm39) C169* probably null Het
Vmn1r223 T A 13: 23,434,407 (GRCm39) F334I possibly damaging Het
Vmn2r10 A T 5: 109,143,820 (GRCm39) I710N probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Wdr26 A G 1: 181,038,635 (GRCm39) probably benign Het
Wnt7a A G 6: 91,371,645 (GRCm39) F106L probably benign Het
Zfp940 C T 7: 29,546,295 (GRCm39) V34M 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
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