Incidental Mutation 'R4772:Cep120'
ID 367638
Institutional Source Beutler Lab
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 # R4772 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 53814795-53877680 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 53851561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 577 (R577Q)
Ref Sequence ENSEMBL: ENSMUSP00000062433 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049811]
AlphaFold Q7TSG1
Predicted Effect probably damaging
Transcript: ENSMUST00000049811
AA Change: R577Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000062433
Gene: ENSMUSG00000048799
AA Change: R577Q

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 95% (74/78)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,265,339 (GRCm39) probably null Het
Adamts19 A G 18: 58,970,848 (GRCm39) Q144R possibly damaging Het
Adgrb3 C A 1: 25,570,956 (GRCm39) C507F probably damaging Het
Atg9b T C 5: 24,590,237 (GRCm39) *923W probably null Het
Atp13a4 T C 16: 29,239,653 (GRCm39) probably benign Het
Baz2b G T 2: 59,788,795 (GRCm39) R697S probably damaging Het
Bicdl1 A G 5: 115,799,537 (GRCm39) I184T probably benign Het
Bpifb4 C T 2: 153,784,903 (GRCm39) L204F possibly damaging Het
Cplx4 T C 18: 66,103,048 (GRCm39) E24G possibly damaging Het
Dcxr T C 11: 120,616,923 (GRCm39) T147A probably benign Het
Dnajc10 C A 2: 80,170,870 (GRCm39) H454N probably damaging Het
Dsp G T 13: 38,351,504 (GRCm39) G108* probably null Het
Entpd6 T A 2: 150,609,014 (GRCm39) I366K probably damaging Het
Fam111a A G 19: 12,565,057 (GRCm39) K269E probably benign Het
Grid2ip T G 5: 143,361,455 (GRCm39) V222G possibly damaging Het
Hmcn2 T G 2: 31,335,326 (GRCm39) V4421G probably benign Het
Ifi207 T C 1: 173,555,253 (GRCm39) T817A probably damaging Het
Irak2 A T 6: 113,670,683 (GRCm39) E533V probably damaging Het
Katnip A G 7: 125,464,523 (GRCm39) S1297G probably damaging Het
Kbtbd6 T C 14: 79,689,596 (GRCm39) F97S probably damaging Het
Kctd14 A T 7: 97,106,883 (GRCm39) E99V probably damaging Het
Klhl10 A T 11: 100,338,557 (GRCm39) Y432F probably benign Het
Lrrc49 T C 9: 60,592,335 (GRCm39) N53S possibly damaging Het
Mief2 T A 11: 60,621,288 (GRCm39) probably benign Het
Mog A T 17: 37,334,049 (GRCm39) S15T unknown Het
Mpi T C 9: 57,452,181 (GRCm39) D365G probably damaging Het
Mpp7 A G 18: 7,379,983 (GRCm39) probably null Het
Nes A G 3: 87,883,486 (GRCm39) T582A probably benign Het
Nlrp14 A G 7: 106,780,393 (GRCm39) D5G probably benign Het
Nr1i3 C T 1: 171,044,719 (GRCm39) T218I probably damaging Het
Nup43 C T 10: 7,554,433 (GRCm39) R339* probably null Het
Nup58 T A 14: 60,457,471 (GRCm39) R577S probably benign Het
Olfr908 C T 9: 38,427,897 (GRCm39) probably benign Het
Or4l15 AAATTTGAA AAA 14: 50,198,452 (GRCm39) probably benign Het
Or52n4b T A 7: 108,144,092 (GRCm39) M120K probably damaging Het
Or5d35 T A 2: 87,855,207 (GRCm39) I47K probably damaging Het
Or6c38 A T 10: 128,929,537 (GRCm39) V102D possibly damaging Het
Or9g20 G A 2: 85,630,338 (GRCm39) S92F probably damaging Het
Orc1 T C 4: 108,436,765 (GRCm39) probably benign Het
Pax6 C A 2: 105,526,847 (GRCm39) P251Q probably benign Het
Phactr3 C T 2: 177,925,729 (GRCm39) R330W probably damaging Het
Phldb1 G A 9: 44,622,324 (GRCm39) R81W probably damaging Het
Pip5k1c C T 10: 81,151,774 (GRCm39) P656L probably benign Het
Pkn3 T G 2: 29,974,692 (GRCm39) probably null Het
Plcb2 T A 2: 118,543,615 (GRCm39) H752L probably benign Het
Plch1 G A 3: 63,660,746 (GRCm39) T291M probably damaging Het
Plekhg1 A T 10: 3,823,127 (GRCm39) M32L probably benign Het
Plekhg1 A T 10: 3,823,130 (GRCm39) T33S probably damaging Het
Plk4 A G 3: 40,759,625 (GRCm39) T174A probably damaging Het
Ppip5k2 C A 1: 97,648,792 (GRCm39) probably benign Het
Prl2a1 G A 13: 27,988,961 (GRCm39) V29M probably benign Het
R3hcc1l T C 19: 42,571,996 (GRCm39) probably benign Het
Rasa3 C T 8: 13,648,289 (GRCm39) G125D probably damaging Het
Sema3f A T 9: 107,566,919 (GRCm39) Y136* probably null Het
Slc13a5 T A 11: 72,141,672 (GRCm39) probably null Het
Slc16a1 T C 3: 104,560,880 (GRCm39) V395A possibly damaging Het
Sparcl1 C T 5: 104,236,356 (GRCm39) A466T probably benign Het
Srrm1 G A 4: 135,069,690 (GRCm39) probably benign Het
Styxl1 G A 5: 135,797,755 (GRCm39) R50* probably null Het
Tex264 T A 9: 106,550,901 (GRCm39) I99F possibly damaging Het
Tgtp2 T C 11: 48,949,811 (GRCm39) T254A probably damaging Het
Tmem245 A C 4: 56,937,989 (GRCm39) probably null Het
Tnik A T 3: 28,661,359 (GRCm39) T587S probably benign Het
Tpr T G 1: 150,288,864 (GRCm39) S648A possibly damaging Het
Ttn T C 2: 76,596,313 (GRCm39) E18454G probably damaging Het
Utp20 A C 10: 88,645,797 (GRCm39) H527Q probably benign Het
Vmn1r1 A T 1: 181,985,111 (GRCm39) S185T probably benign Het
Vps54 C T 11: 21,262,952 (GRCm39) H680Y probably damaging Het
Vwa5b2 A G 16: 20,419,553 (GRCm39) probably null Het
Wscd1 T C 11: 71,662,802 (GRCm39) probably null Het
Zbtb41 C T 1: 139,375,152 (GRCm39) P871S probably damaging Het
Zcchc4 T C 5: 52,953,549 (GRCm39) L186P possibly damaging Het
Zdhhc13 A G 7: 48,449,621 (GRCm39) Y73C probably benign Het
Zfp12 A G 5: 143,225,755 (GRCm39) E21G 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
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
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'- CGCAGTCTGAACAAGAATCATG -3'
(R):5'- CTAACTGTGGCCATGGTTTCTC -3'

Sequencing Primer
(F):5'- CCAGGTCAATGAAAATCCAC -3'
(R):5'- GGCCATGGTTTCTCTCCTCAGG -3'
Posted On 2015-12-29