Incidental Mutation 'IGL01693:Cep15'
ID 104170
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep15
Ensembl Gene ENSMUSG00000033111
Gene Name centrosomal protein 15
Synonyms 3830406C13Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01693
Quality Score
Status
Chromosome 14
Chromosomal Location 10166532-10185590 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12287380 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 55 (L55P)
Ref Sequence ENSEMBL: ENSMUSP00000153272 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112669] [ENSMUST00000163392] [ENSMUST00000223631] [ENSMUST00000223702] [ENSMUST00000223762] [ENSMUST00000223927] [ENSMUST00000225640] [ENSMUST00000224389] [ENSMUST00000225871] [ENSMUST00000225294] [ENSMUST00000225773]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000112669
AA Change: L55P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108288
Gene: ENSMUSG00000033111
AA Change: L55P

DomainStartEndE-ValueType
Pfam:DUF4570 1 89 5.5e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163392
AA Change: L55P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126960
Gene: ENSMUSG00000033111
AA Change: L55P

DomainStartEndE-ValueType
Pfam:DUF4570 1 110 1.1e-48 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000223631
AA Change: L55P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223697
Predicted Effect probably damaging
Transcript: ENSMUST00000223702
AA Change: L47P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000223762
AA Change: L55P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000223927
AA Change: L55P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000225640
AA Change: L55P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000224389
AA Change: L55P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224824
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224223
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224994
Predicted Effect probably benign
Transcript: ENSMUST00000225871
Predicted Effect probably damaging
Transcript: ENSMUST00000225294
AA Change: L55P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225383
Predicted Effect probably damaging
Transcript: ENSMUST00000225773
AA Change: L55P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225971
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225739
Predicted Effect probably benign
Transcript: ENSMUST00000225847
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1b8 T A 6: 34,340,271 (GRCm39) M145K possibly damaging Het
Arhgap39 T C 15: 76,610,167 (GRCm39) D943G probably null Het
Arhgap42 A T 9: 9,006,507 (GRCm39) W630R probably damaging Het
Bbs5 T A 2: 69,493,424 (GRCm39) S225T probably benign Het
Cacna1f A T X: 7,491,606 (GRCm39) N1159Y probably damaging Het
Catsperg1 A G 7: 28,884,523 (GRCm39) probably benign Het
Cemip2 A C 19: 21,779,251 (GRCm39) I354L probably benign Het
Cep97 A T 16: 55,750,957 (GRCm39) W20R probably damaging Het
Cmtm8 G A 9: 114,618,773 (GRCm39) T160M probably damaging Het
Csf2ra A G 19: 61,214,434 (GRCm39) S244P possibly damaging Het
Dnah7b C T 1: 46,397,307 (GRCm39) P3913S probably benign Het
Dnai4 T C 4: 102,944,527 (GRCm39) probably null Het
Ezh1 C T 11: 101,106,084 (GRCm39) M100I probably benign Het
Gadl1 C A 9: 115,778,653 (GRCm39) P189Q probably damaging Het
Gcnt2 G A 13: 41,041,549 (GRCm39) S236N probably benign Het
H1f7 A C 15: 98,154,262 (GRCm39) Y296D unknown Het
Hmcn1 T A 1: 150,459,031 (GRCm39) D5191V probably damaging Het
Mycbp2 A T 14: 103,365,415 (GRCm39) D4194E probably damaging Het
Ncf2 C A 1: 152,700,074 (GRCm39) T203K probably benign Het
Or5a1 C A 19: 12,097,921 (GRCm39) V40L probably benign Het
Pate8 G A 9: 36,492,662 (GRCm39) T81I probably benign Het
Phf8 T A X: 150,333,871 (GRCm39) V113E probably damaging Het
Pkm G T 9: 59,577,805 (GRCm39) K207N probably damaging Het
Slco1a6 G T 6: 142,078,935 (GRCm39) S120* probably null Het
Sox10 C T 15: 79,040,473 (GRCm39) V195M possibly damaging Het
Swt1 A G 1: 151,297,855 (GRCm39) I24T probably benign Het
Thada T C 17: 84,754,072 (GRCm39) T300A probably benign Het
Vmn2r17 T C 5: 109,600,384 (GRCm39) Y561H probably damaging Het
Other mutations in Cep15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02956:Cep15 APN 14 12,287,326 (GRCm38) missense probably benign 0.26
R0335:Cep15 UTSW 14 12,301,266 (GRCm38) missense possibly damaging 0.91
R0747:Cep15 UTSW 14 12,287,287 (GRCm38) missense probably benign 0.25
R8910:Cep15 UTSW 14 12,285,444 (GRCm38) missense probably benign 0.00
Posted On 2014-01-21