Incidental Mutation 'R6609:Cep20'
ID 525853
Institutional Source Beutler Lab
Gene Symbol Cep20
Ensembl Gene ENSMUSG00000022677
Gene Name centrosomal protein 20
Synonyms 0610037P05Rik, Fopnl
MMRRC Submission 044732-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R6609 (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: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.5%
Validation Efficiency 100% (34/34)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 C T 12: 118,892,497 (GRCm39) V421I probably damaging Het
Bpifb3 T A 2: 153,762,568 (GRCm39) probably null Het
C1rl T C 6: 124,485,583 (GRCm39) V318A probably benign Het
Cacna1b C T 2: 24,543,061 (GRCm39) V1264M probably damaging Het
Cacna1s A G 1: 136,041,129 (GRCm39) D1551G probably benign Het
Cdc42bpa T G 1: 179,928,839 (GRCm39) probably null Het
Cdc7 G A 5: 107,120,924 (GRCm39) R182H probably benign Het
Cyth1 A T 11: 118,061,686 (GRCm39) L309Q probably damaging Het
Dnah6 G A 6: 73,030,678 (GRCm39) T3378I possibly damaging Het
Get4 A G 5: 139,254,820 (GRCm39) probably benign Het
Gm136 T A 4: 34,746,526 (GRCm39) M162L probably benign Het
Grik5 G T 7: 24,714,951 (GRCm39) S681* probably null Het
Hsf5 C T 11: 87,526,779 (GRCm39) P484S probably damaging Het
Kcnc2 G C 10: 112,107,761 (GRCm39) G51R probably benign Het
Kl A T 5: 150,912,427 (GRCm39) K725N probably benign Het
Lama3 G A 18: 12,646,735 (GRCm39) V144M probably damaging Het
Lrrc14 T C 15: 76,598,453 (GRCm39) V363A probably benign Het
Mettl15 T C 2: 108,967,687 (GRCm39) R200G probably null Het
Mki67 T C 7: 135,301,558 (GRCm39) T1159A possibly damaging Het
Muc6 G C 7: 141,226,700 (GRCm39) probably benign Het
Ndufb5 C G 3: 32,795,832 (GRCm39) T8R probably benign Het
Or4f60 T C 2: 111,902,509 (GRCm39) M140V probably benign Het
Or6ae1 C A 7: 139,742,476 (GRCm39) R129L probably benign Het
Pde1a T A 2: 79,736,484 (GRCm39) D15V probably damaging Het
Plcg2 G A 8: 118,294,909 (GRCm39) G191S probably benign Het
Ptprq T C 10: 107,408,829 (GRCm39) T1895A probably damaging Het
Pxdn T C 12: 30,052,940 (GRCm39) V1039A probably benign Het
Slc26a5 T C 5: 22,024,717 (GRCm39) I456V possibly damaging Het
Smco4 C T 9: 15,456,031 (GRCm39) A39V probably damaging Het
Tmem102 T A 11: 69,695,940 (GRCm39) L40F probably damaging Het
Ylpm1 C G 12: 85,062,051 (GRCm39) P651A unknown Het
Zfp985 A T 4: 147,667,578 (GRCm39) M149L probably benign Het
Zfp985 T C 4: 147,668,124 (GRCm39) F331L probably 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
R6399: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'- GACGACAGATCAGCTTTCCACAG -3'
(R):5'- GCTTAAGACATGAGTAGAGTTCAC -3'

Sequencing Primer
(F):5'- GATCAGCTTTCCACAGATGCAG -3'
(R):5'- CTGCATGCATGGTAGTACAGTAC -3'
Posted On 2018-06-22