Incidental Mutation 'P0047:Cenatac'
ID 7726
Institutional Source Beutler Lab
Gene Symbol Cenatac
Ensembl Gene ENSMUSG00000043923
Gene Name centrosomal AT-AC splicing factor
Synonyms Ccdc84, D630044F24Rik
MMRRC Submission 038294-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.898) question?
Stock # P0047 (G1)
Quality Score
Status Validated
Chromosome 9
Chromosomal Location 44321456-44329390 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 44324506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000149682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053286] [ENSMUST00000080300] [ENSMUST00000213813] [ENSMUST00000214494] [ENSMUST00000214702] [ENSMUST00000217270] [ENSMUST00000217351] [ENSMUST00000216867] [ENSMUST00000216076] [ENSMUST00000216572]
AlphaFold Q4VA36
Predicted Effect probably benign
Transcript: ENSMUST00000053286
SMART Domains Protein: ENSMUSP00000053216
Gene: ENSMUSG00000043923

DomainStartEndE-ValueType
Pfam:CCDC84 6 323 2.5e-95 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000080300
SMART Domains Protein: ENSMUSP00000079180
Gene: ENSMUSG00000009927

DomainStartEndE-ValueType
Pfam:Ribosomal_S25 4 112 6.2e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213116
Predicted Effect probably benign
Transcript: ENSMUST00000213813
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214370
Predicted Effect probably benign
Transcript: ENSMUST00000214494
Predicted Effect probably benign
Transcript: ENSMUST00000214702
Predicted Effect probably benign
Transcript: ENSMUST00000214748
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215111
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216134
Predicted Effect probably benign
Transcript: ENSMUST00000217270
Predicted Effect probably benign
Transcript: ENSMUST00000217351
Predicted Effect probably benign
Transcript: ENSMUST00000216867
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217231
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215402
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215610
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217620
Predicted Effect probably benign
Transcript: ENSMUST00000216076
Predicted Effect probably benign
Transcript: ENSMUST00000216572
Coding Region Coverage
  • 1x: 81.2%
  • 3x: 73.1%
  • 10x: 47.2%
  • 20x: 24.0%
Validation Efficiency 83% (73/88)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein thought to contain a coiled coil motif. No function has been determined for the encoded protein. A pseudogene of this gene is located on chromosome 20. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap20 T C 9: 51,760,536 (GRCm39) S760P probably damaging Het
Defa22 C A 8: 21,653,102 (GRCm39) C71* probably null Het
Fanci A G 7: 79,093,792 (GRCm39) D1048G probably damaging Het
Kmt5b T A 19: 3,843,223 (GRCm39) probably benign Het
Nol8 T A 13: 49,807,824 (GRCm39) probably null Het
Nvl T C 1: 180,939,867 (GRCm39) T628A probably damaging Het
Pgm5 T A 19: 24,793,785 (GRCm39) D293V probably damaging Het
Pms2 A G 5: 143,856,416 (GRCm39) D7G probably damaging Het
Srrm3 G A 5: 135,881,780 (GRCm39) probably null Het
Stradb G A 1: 59,028,957 (GRCm39) G142S probably null Het
Txndc11 C T 16: 10,909,661 (GRCm39) probably benign Het
Other mutations in Cenatac
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02187:Cenatac APN 9 44,322,084 (GRCm39) unclassified probably benign
IGL03400:Cenatac APN 9 44,324,486 (GRCm39) missense probably benign
R1466:Cenatac UTSW 9 44,324,977 (GRCm39) splice site probably benign
R1864:Cenatac UTSW 9 44,329,018 (GRCm39) missense probably damaging 1.00
R4981:Cenatac UTSW 9 44,329,245 (GRCm39) missense probably damaging 1.00
R5341:Cenatac UTSW 9 44,328,406 (GRCm39) critical splice donor site probably null
R6024:Cenatac UTSW 9 44,329,249 (GRCm39) missense possibly damaging 0.87
R6189:Cenatac UTSW 9 44,321,618 (GRCm39) missense probably benign
R7250:Cenatac UTSW 9 44,323,748 (GRCm39) critical splice donor site probably null
R7659:Cenatac UTSW 9 44,324,790 (GRCm39) missense probably damaging 1.00
R7808:Cenatac UTSW 9 44,324,215 (GRCm39) missense probably null 1.00
R7848:Cenatac UTSW 9 44,324,939 (GRCm39) missense probably damaging 0.97
X0061:Cenatac UTSW 9 44,329,057 (GRCm39) missense probably damaging 1.00
Posted On 2012-10-29