Incidental Mutation 'IGL03400:Cenatac'
ID 421386
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cenatac
Ensembl Gene ENSMUSG00000043923
Gene Name centrosomal AT-AC splicing factor
Synonyms Ccdc84, D630044F24Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.908) question?
Stock # IGL03400
Quality Score
Status
Chromosome 9
Chromosomal Location 44321456-44329390 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44324486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 185 (V185A)
Ref Sequence ENSEMBL: ENSMUSP00000149682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053286] [ENSMUST00000080300] [ENSMUST00000213813] [ENSMUST00000214494] [ENSMUST00000214702] [ENSMUST00000217270] [ENSMUST00000217351] [ENSMUST00000216076] [ENSMUST00000216572] [ENSMUST00000216867]
AlphaFold Q4VA36
Predicted Effect probably benign
Transcript: ENSMUST00000053286
AA Change: S176P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000053216
Gene: ENSMUSG00000043923
AA Change: S176P

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
AA Change: V185A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000214702
AA Change: V185A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect unknown
Transcript: ENSMUST00000214748
AA Change: V184A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216134
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215111
Predicted Effect probably benign
Transcript: ENSMUST00000217270
AA Change: V185A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000217351
AA Change: V185A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217231
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217620
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215610
Predicted Effect probably benign
Transcript: ENSMUST00000216076
Predicted Effect probably benign
Transcript: ENSMUST00000216572
Predicted Effect probably benign
Transcript: ENSMUST00000216867
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215402
Coding Region Coverage
Validation Efficiency
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Bmp3 T C 5: 99,019,957 (GRCm39) S127P probably damaging Het
Cemip A G 7: 83,607,724 (GRCm39) S761P probably damaging Het
Ces3b A G 8: 105,819,568 (GRCm39) T495A probably damaging Het
Cops3 A T 11: 59,708,914 (GRCm39) D413E probably benign Het
Cyp4f16 A G 17: 32,769,327 (GRCm39) I406V probably benign Het
Efcab6 A T 15: 83,751,246 (GRCm39) probably benign Het
Emsy A G 7: 98,251,933 (GRCm39) V703A possibly damaging Het
Fancb T C X: 163,778,587 (GRCm39) S587P possibly damaging Het
Farp1 A G 14: 121,444,733 (GRCm39) Y80C probably damaging Het
Fgf10 T C 13: 118,918,151 (GRCm39) probably null Het
Fgf13 A G X: 58,171,248 (GRCm39) probably benign Het
Filip1 T C 9: 79,727,755 (GRCm39) K288R probably benign Het
L3mbtl3 T C 10: 26,191,424 (GRCm39) N458S unknown Het
Nek11 C T 9: 105,082,065 (GRCm39) A513T probably benign Het
Or10a3m A C 7: 108,312,733 (GRCm39) I46L probably benign Het
Or11q2 T A X: 48,772,781 (GRCm39) L134Q probably damaging Het
Or2ah1 T C 2: 85,654,094 (GRCm39) Y260H probably damaging Het
Palld G T 8: 61,966,489 (GRCm39) A630E probably damaging Het
Pdk1 T C 2: 71,726,091 (GRCm39) M333T probably benign Het
Rab9 T C X: 165,240,744 (GRCm39) N189S probably benign Het
Shtn1 C T 19: 59,020,690 (GRCm39) probably benign Het
Sntg1 T C 1: 8,533,638 (GRCm39) I339V probably damaging Het
Spns3 A G 11: 72,390,501 (GRCm39) V418A possibly damaging Het
St14 T A 9: 31,008,267 (GRCm39) probably benign Het
Tedc2 T C 17: 24,438,777 (GRCm39) D180G probably benign Het
Trim33 T C 3: 103,236,459 (GRCm39) I523T probably damaging Het
Ttn T A 2: 76,551,208 (GRCm39) M23068L probably benign Het
Ttn T C 2: 76,579,266 (GRCm39) M15549V probably damaging Het
Tubgcp6 A G 15: 88,992,302 (GRCm39) probably benign Het
Ube3c A G 5: 29,806,345 (GRCm39) Y329C probably benign Het
Zmym4 G T 4: 126,816,920 (GRCm39) D259E probably benign Het
Other mutations in Cenatac
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02187:Cenatac APN 9 44,322,084 (GRCm39) unclassified probably benign
P0047:Cenatac UTSW 9 44,324,506 (GRCm39) splice site 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 2016-08-02