Incidental Mutation 'R4012:Cep120'
ID 311792
Institutional Source Beutler Lab
Gene Symbol Cep120
Ensembl Gene ENSMUSG00000048799
Gene Name centrosomal protein 120
Synonyms Ccdc100
MMRRC Submission 040949-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.773) question?
Stock # R4012 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 53814795-53877680 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53871654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 73 (T73A)
Ref Sequence ENSEMBL: ENSMUSP00000062433 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049811]
AlphaFold Q7TSG1
Predicted Effect probably damaging
Transcript: ENSMUST00000049811
AA Change: T73A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000062433
Gene: ENSMUSG00000048799
AA Change: T73A

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 0.1970 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.0%
Validation Efficiency 100% (79/79)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp2 G T 18: 80,174,036 (GRCm39) F124L probably benign Het
Aicda A G 6: 122,536,449 (GRCm39) K10E probably benign Het
Als2 A G 1: 59,226,575 (GRCm39) C910R probably benign Het
Ankrd11 T A 8: 123,619,156 (GRCm39) K1565N probably damaging Het
Apol7b T C 15: 77,308,909 (GRCm39) D63G probably damaging Het
Arhgef4 T C 1: 34,764,187 (GRCm39) C1148R possibly damaging Het
Atg16l1 A G 1: 87,694,629 (GRCm39) D102G probably damaging Het
Babam2 T C 5: 32,158,782 (GRCm39) V244A probably damaging Het
Brd10 T G 19: 29,720,990 (GRCm39) K622N probably damaging Het
Cars1 G A 7: 143,113,411 (GRCm39) A668V possibly damaging Het
Ccdc168 T C 1: 44,100,129 (GRCm39) D323G possibly damaging Het
Ccdc185 T A 1: 182,576,453 (GRCm39) S79C possibly damaging Het
Ccdc88b G C 19: 6,826,359 (GRCm39) R1119G probably damaging Het
Cebpz A T 17: 79,231,896 (GRCm39) V810E probably damaging Het
Chat C A 14: 32,145,269 (GRCm39) C380F possibly damaging Het
Cltc T C 11: 86,648,087 (GRCm39) Q10R probably benign Het
Cripto C T 9: 110,769,781 (GRCm39) M169I probably benign Het
Cst8 T C 2: 148,646,622 (GRCm39) probably benign Het
Cts3 C T 13: 61,715,868 (GRCm39) probably null Het
Cyp4a29 T A 4: 115,105,707 (GRCm39) D136E probably benign Het
Dmxl2 A C 9: 54,286,297 (GRCm39) probably null Het
Dsg4 T A 18: 20,584,919 (GRCm39) V211E possibly damaging Het
Efcab5 C T 11: 77,008,656 (GRCm39) V957I probably damaging Het
Eif4g2 A T 7: 110,673,358 (GRCm39) L807Q possibly damaging Het
Epha4 A G 1: 77,366,731 (GRCm39) probably benign Het
Epm2aip1 A T 9: 111,101,458 (GRCm39) I144F probably benign Het
Erbb4 C T 1: 68,599,735 (GRCm39) R114H probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fam170a C T 18: 50,415,038 (GRCm39) A228V probably damaging Het
Foxred1 A T 9: 35,117,571 (GRCm39) M254K possibly damaging Het
Gm1527 T A 3: 28,952,969 (GRCm39) C90S probably benign Het
Gpr137b T C 13: 13,533,947 (GRCm39) T370A probably benign Het
Gtf2e2 A G 8: 34,245,993 (GRCm39) probably benign Het
Hgsnat A T 8: 26,445,817 (GRCm39) L359* probably null Het
Hhip A T 8: 80,719,223 (GRCm39) C435S probably damaging Het
Hoxa13 T C 6: 52,236,107 (GRCm39) D310G possibly damaging Het
Hspa14 T C 2: 3,513,675 (GRCm39) Y18C probably damaging Het
Ighg1 A G 12: 113,293,270 (GRCm39) V140A probably damaging Het
Ighv1-58 A T 12: 115,275,930 (GRCm39) Y69* probably null Het
Inpp5j A G 11: 3,450,185 (GRCm39) F615L probably benign Het
Kcna1 T A 6: 126,619,873 (GRCm39) Y149F probably benign Het
Kcnj6 A T 16: 94,625,877 (GRCm39) probably null Het
Krtap4-1 G T 11: 99,518,637 (GRCm39) C124* probably null Het
Lama1 T A 17: 68,119,368 (GRCm39) L2615* probably null Het
Lcp2 A T 11: 34,018,439 (GRCm39) I72F probably damaging Het
Med1 T A 11: 98,062,532 (GRCm39) I189F possibly damaging Het
Meioc C T 11: 102,566,654 (GRCm39) R757C probably damaging Het
Mtr T A 13: 12,204,283 (GRCm39) H1171L probably damaging Het
Mtr G C 13: 12,204,284 (GRCm39) H1171D probably damaging Het
Naa12 A G 18: 80,255,339 (GRCm39) D211G probably benign Het
Nlrc5 A G 8: 95,202,620 (GRCm39) Y240C possibly damaging Het
Nsun4 T A 4: 115,908,259 (GRCm39) H767L possibly damaging Het
Pcdha1 T A 18: 37,064,189 (GRCm39) N284K probably benign Het
Pcdhgb8 A C 18: 37,896,414 (GRCm39) S495R probably benign Het
Pramel1 T A 4: 143,123,260 (GRCm39) I79N possibly damaging Het
Prdm6 A T 18: 53,673,390 (GRCm39) E183D possibly damaging Het
Prex2 T C 1: 11,254,740 (GRCm39) F1125L probably benign Het
Prkg2 T C 5: 99,127,674 (GRCm39) I346V possibly damaging Het
Ptprz1 A G 6: 23,002,584 (GRCm39) D1558G probably damaging Het
Pttg1ip2 A C 5: 5,528,955 (GRCm39) L20R probably damaging Het
Qng1 T A 13: 58,529,800 (GRCm39) K271* probably null Het
Rab11fip3 GCTCGTCT GCT 17: 26,287,002 (GRCm39) probably null Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
S100a6 A G 3: 90,521,508 (GRCm39) D50G probably damaging Het
Shroom3 T A 5: 93,096,342 (GRCm39) probably benign Het
Sipa1l1 G A 12: 82,388,556 (GRCm39) V261M possibly damaging Het
Slc5a4b T A 10: 75,910,826 (GRCm39) I337F probably damaging Het
Smarcc1 A G 9: 109,961,273 (GRCm39) Y30C possibly damaging Het
Swap70 A G 7: 109,880,512 (GRCm39) K576E possibly damaging Het
Syt6 A G 3: 103,532,809 (GRCm39) probably benign Het
Szt2 T C 4: 118,241,097 (GRCm39) I1726V probably benign Het
Thoc1 A G 18: 9,987,651 (GRCm39) K453E possibly damaging Het
Tmem38b A G 4: 53,854,409 (GRCm39) I214V probably benign Het
Tonsl A T 15: 76,521,244 (GRCm39) I354N probably damaging Het
Trappc9 T C 15: 72,903,472 (GRCm39) I303V possibly damaging Het
Trim66 A G 7: 109,057,338 (GRCm39) S1032P probably damaging Het
Tsc22d4 T C 5: 137,756,590 (GRCm39) V6A probably benign Het
Ubtd2 A G 11: 32,449,260 (GRCm39) K36E probably benign Het
Zkscan2 T C 7: 123,097,883 (GRCm39) E171G possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- AGGCTGTGACTGGATACTCTG -3'
(R):5'- GAACCTGGTTGACCTAGTTGG -3'

Sequencing Primer
(F):5'- ACTGGATACTCTGTTCTTTCGTATG -3'
(R):5'- CAGCAAGGGTGTAATCTG -3'
Posted On 2015-04-29