Incidental Mutation 'R6399:Cep20'
ID 516109
Institutional Source Beutler Lab
Gene Symbol Cep20
Ensembl Gene ENSMUSG00000022677
Gene Name centrosomal protein 20
Synonyms 0610037P05Rik, Fopnl
MMRRC Submission 044546-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R6399 (G1)
Quality Score 217.468
Status Validated
Chromosome 16
Chromosomal Location 14117108-14135269 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) TTGTG to TTG at 14118009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000023357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023357] [ENSMUST00000120707]
AlphaFold Q9CZS3
Predicted Effect probably null
Transcript: ENSMUST00000023357
SMART Domains Protein: ENSMUSP00000023357
Gene: ENSMUSG00000022677

DomainStartEndE-ValueType
LisH 49 81 3.13e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120707
SMART Domains Protein: ENSMUSP00000113348
Gene: ENSMUSG00000022677

DomainStartEndE-ValueType
LisH 49 81 3.13e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148278
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230495
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 95.7%
Validation Efficiency 97% (28/29)
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik T C 5: 138,645,821 (GRCm39) C569R probably damaging Het
Acadsb T A 7: 131,031,784 (GRCm39) W207R probably damaging Het
Apbb2 C T 5: 66,608,810 (GRCm39) probably null Het
Atad2b T C 12: 5,007,558 (GRCm39) V415A probably damaging Het
Ccdc150 G A 1: 54,303,116 (GRCm39) probably null Het
Chd7 A G 4: 8,828,274 (GRCm39) T1072A probably damaging Het
Depdc1b T A 13: 108,460,580 (GRCm39) F63L probably damaging Het
Dnah2 C T 11: 69,349,344 (GRCm39) V2431M probably damaging Het
Dnajc14 A G 10: 128,643,359 (GRCm39) E427G probably damaging Het
Flnc A G 6: 29,458,882 (GRCm39) E2421G probably damaging Het
Kcna4 T C 2: 107,126,894 (GRCm39) S543P probably damaging Het
Lrrc30 T A 17: 67,939,681 (GRCm39) probably benign Het
Msh6 T A 17: 88,294,319 (GRCm39) S1025T probably damaging Het
Ndrg3 C G 2: 156,782,294 (GRCm39) A191P probably damaging Het
Or1o4 T C 17: 37,590,666 (GRCm39) Y215C probably damaging Het
Or5aq7 C T 2: 86,938,330 (GRCm39) V134I probably benign Het
Or5p5 A G 7: 107,413,961 (GRCm39) T57A possibly damaging Het
Pls1 A G 9: 95,636,798 (GRCm39) I558T probably damaging Het
Rnf34 T C 5: 122,999,839 (GRCm39) F32L probably benign Het
Serpinb9g A T 13: 33,676,834 (GRCm39) L205F probably benign Het
Tbc1d24 T A 17: 24,427,303 (GRCm39) I220F probably damaging Het
Thsd7b A T 1: 129,744,385 (GRCm39) T758S probably benign Het
Trak1 A G 9: 121,282,562 (GRCm39) probably null Het
Ttn G C 2: 76,556,407 (GRCm39) F30199L probably benign Het
Ttn T G 2: 76,556,406 (GRCm39) S30200R probably damaging Het
Uggt1 T C 1: 36,202,447 (GRCm39) D1050G possibly damaging Het
Veph1 T A 3: 66,033,312 (GRCm39) S605C probably benign Het
Wbp1 A G 6: 83,096,982 (GRCm39) probably benign Het
Ythdc2 C A 18: 45,019,469 (GRCm39) Q1413K possibly damaging Het
Other mutations in Cep20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01532:Cep20 APN 16 14,122,375 (GRCm39) missense probably benign 0.00
IGL02422:Cep20 APN 16 14,118,070 (GRCm39) missense probably benign 0.06
IGL02953:Cep20 APN 16 14,122,339 (GRCm39) missense probably benign 0.09
R1459:Cep20 UTSW 16 14,122,380 (GRCm39) missense possibly damaging 0.74
R1486:Cep20 UTSW 16 14,118,004 (GRCm39) missense probably benign 0.17
R6609:Cep20 UTSW 16 14,118,009 (GRCm39) frame shift probably null
R6610:Cep20 UTSW 16 14,118,009 (GRCm39) frame shift probably null
R6612:Cep20 UTSW 16 14,118,009 (GRCm39) frame shift probably null
R7382:Cep20 UTSW 16 14,118,009 (GRCm39) frame shift probably null
R7383:Cep20 UTSW 16 14,118,009 (GRCm39) frame shift probably null
R7487:Cep20 UTSW 16 14,128,968 (GRCm39) missense probably benign 0.08
R8204:Cep20 UTSW 16 14,118,070 (GRCm39) missense probably benign
R9148:Cep20 UTSW 16 14,135,222 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- CGACAGATCAGCTTTCCACAG -3'
(R):5'- GCTTAAGACATGAGTAGAGTTCAC -3'

Sequencing Primer
(F):5'- GATCAGCTTTCCACAGATGCAG -3'
(R):5'- CTGCATGCATGGTAGTACAGTAC -3'
Posted On 2018-05-04