Incidental Mutation 'IGL02953:Cep20'
ID 365008
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep20
Ensembl Gene ENSMUSG00000022677
Gene Name centrosomal protein 20
Synonyms 0610037P05Rik, Fopnl
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # IGL02953
Quality Score
Status
Chromosome 16
Chromosomal Location 14117108-14135269 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14122339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 142 (K142E)
Ref Sequence ENSEMBL: ENSMUSP00000023357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023357] [ENSMUST00000120707]
AlphaFold Q9CZS3
Predicted Effect probably benign
Transcript: ENSMUST00000023357
AA Change: K142E

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000023357
Gene: ENSMUSG00000022677
AA Change: K142E

DomainStartEndE-ValueType
LisH 49 81 3.13e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120707
AA Change: E134G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000113348
Gene: ENSMUSG00000022677
AA Change: E134G

DomainStartEndE-ValueType
LisH 49 81 3.13e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148278
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230495
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057N15Rik A G 16: 88,570,534 (GRCm39) S169P possibly damaging Het
Adap2 G A 11: 80,045,126 (GRCm39) G29R probably damaging Het
Adcy2 A T 13: 68,877,447 (GRCm39) I431N probably damaging Het
Amer3 T C 1: 34,626,877 (GRCm39) V372A probably damaging Het
Aspm T A 1: 139,385,157 (GRCm39) V267D probably benign Het
Atp6v0b A T 4: 117,742,419 (GRCm39) V111E probably damaging Het
Clmp T A 9: 40,685,683 (GRCm39) L193Q probably damaging Het
Dcaf7 T G 11: 105,942,702 (GRCm39) Y216* probably null Het
Dcbld2 T A 16: 58,272,100 (GRCm39) D385E probably benign Het
Des T A 1: 75,340,288 (GRCm39) D398E possibly damaging Het
Fancm C T 12: 65,168,740 (GRCm39) T1701I probably benign Het
Fat1 C A 8: 45,477,351 (GRCm39) D2132E probably damaging Het
Fkbp14 T C 6: 54,556,667 (GRCm39) K161R probably damaging Het
Fuca2 C T 10: 13,383,173 (GRCm39) probably benign Het
Habp2 T A 19: 56,302,664 (GRCm39) probably null Het
Hectd4 T A 5: 121,503,116 (GRCm39) Y4362N possibly damaging Het
Herc3 C T 6: 58,834,718 (GRCm39) Q242* probably null Het
Igkv4-81 T C 6: 68,967,981 (GRCm39) K40R probably benign Het
Irf5 C A 6: 29,536,671 (GRCm39) H461N possibly damaging Het
Lypd11 C T 7: 24,422,991 (GRCm39) C109Y probably damaging Het
Nav2 G A 7: 49,198,171 (GRCm39) V1267M probably damaging Het
Nlk A G 11: 78,517,527 (GRCm39) V155A probably benign Het
Nup214 C T 2: 31,878,241 (GRCm39) H303Y possibly damaging Het
Pld1 A C 3: 28,166,396 (GRCm39) M812L probably benign Het
Rab11fip3 C A 17: 26,286,653 (GRCm39) R500L possibly damaging Het
Secisbp2l C T 2: 125,602,194 (GRCm39) E389K probably benign Het
Serpina3a C T 12: 104,082,748 (GRCm39) R174C probably benign Het
Spef2 T C 15: 9,713,329 (GRCm39) R405G possibly damaging Het
Srpx A T X: 9,983,706 (GRCm39) probably benign Het
St18 T A 1: 6,914,337 (GRCm39) probably benign Het
Tcerg1 C T 18: 42,681,535 (GRCm39) P561S probably damaging Het
Topbp1 T A 9: 103,205,634 (GRCm39) N757K probably benign Het
Trrap G T 5: 144,752,774 (GRCm39) L1782F probably damaging Het
Tut1 G T 19: 8,940,056 (GRCm39) V347L probably damaging Het
Txnip T A 3: 96,465,682 (GRCm39) V44D probably damaging Het
Usp8 C T 2: 126,579,857 (GRCm39) T369I probably benign Het
Zzef1 A G 11: 72,746,224 (GRCm39) N842S probably benign 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
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
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
Posted On 2015-12-18