Incidental Mutation 'IGL02839:Cdca4'
ID 361774
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdca4
Ensembl Gene ENSMUSG00000047832
Gene Name cell division cycle associated 4
Synonyms 2410018C03Rik, Hepp, SEI-3
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.421) question?
Stock # IGL02839
Quality Score
Status
Chromosome 12
Chromosomal Location 112783849-112793043 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 112785511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 72 (D72E)
Ref Sequence ENSEMBL: ENSMUSP00000152315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062092] [ENSMUST00000220899]
AlphaFold Q9CWM2
Predicted Effect probably damaging
Transcript: ENSMUST00000062092
AA Change: D72E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058901
Gene: ENSMUSG00000047832
AA Change: D72E

DomainStartEndE-ValueType
Pfam:SERTA 33 70 9.1e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000220899
AA Change: D72E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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 that belongs to the E2F family of transcription factors. This protein regulates E2F-dependent transcriptional activation and cell proliferation, mainly through the E2F/retinoblastoma protein pathway. It also functions in the regulation of JUN oncogene expression. This protein shows distinctive nuclear-mitotic apparatus distribution, it is involved in spindle organization from prometaphase, and may also play a role as a midzone factor involved in chromosome segregation or cytokinesis. Two alternatively spliced transcript variants encoding the same protein have been noted for this gene. Two pseudogenes have also been identified on chromosome 1. [provided by RefSeq, May 2014]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,653,816 (GRCm39) probably null Het
Aldh1l1 T C 6: 90,546,857 (GRCm39) F387L possibly damaging Het
Aldh5a1 A G 13: 25,095,603 (GRCm39) S505P probably damaging Het
Aox1 A G 1: 58,107,943 (GRCm39) T642A probably benign Het
Atg16l2 T C 7: 100,942,604 (GRCm39) I364V probably damaging Het
Atp2c2 T C 8: 120,475,859 (GRCm39) V584A possibly damaging Het
Axl A T 7: 25,466,216 (GRCm39) probably null Het
Camta1 T C 4: 151,228,969 (GRCm39) Q621R probably damaging Het
Col1a2 T A 6: 4,538,748 (GRCm39) Y1223N unknown Het
Drc1 T C 5: 30,507,767 (GRCm39) M263T probably benign Het
Eef1akmt1 A T 14: 57,787,238 (GRCm39) Y213N probably damaging Het
Fat3 C A 9: 15,830,466 (GRCm39) D4343Y probably damaging Het
Ftdc1 A G 16: 58,436,210 (GRCm39) Y38H probably damaging Het
Gucy2d T C 7: 98,093,196 (GRCm39) V191A possibly damaging Het
Hdac5 A G 11: 102,095,734 (GRCm39) L355P probably damaging Het
Hdgfl3 C T 7: 81,550,160 (GRCm39) G58D probably damaging Het
Hnrnpul1 A G 7: 25,432,667 (GRCm39) probably null Het
Klf12 A T 14: 100,137,675 (GRCm39) C290* probably null Het
Mtmr3 A T 11: 4,437,994 (GRCm39) I820N probably benign Het
Myo7a A T 7: 97,740,329 (GRCm39) L555Q probably damaging Het
Nrsn1 A G 13: 25,437,527 (GRCm39) C134R probably damaging Het
Or13c7d T A 4: 43,770,943 (GRCm39) K23* probably null Het
Or1p1 T A 11: 74,180,196 (GRCm39) C241* probably null Het
Or4c11c G A 2: 88,661,992 (GRCm39) C177Y probably damaging Het
Or56a3b A C 7: 104,771,563 (GRCm39) T300P probably damaging Het
Or5ac24 A T 16: 59,165,753 (GRCm39) C104S probably benign Het
Or5t9 T A 2: 86,659,712 (GRCm39) N205K probably benign Het
Pik3r6 A G 11: 68,417,238 (GRCm39) E60G probably damaging Het
Pkhd1l1 T A 15: 44,392,939 (GRCm39) I1758N probably damaging Het
Poc1b A G 10: 98,980,460 (GRCm39) probably benign Het
Rnf103 G T 6: 71,486,689 (GRCm39) R440L probably benign Het
Siglec1 A G 2: 130,926,852 (GRCm39) V237A possibly damaging Het
Skic2 T C 17: 35,066,774 (GRCm39) T165A probably benign Het
Slit3 A G 11: 35,539,874 (GRCm39) N762S possibly damaging Het
Trank1 A G 9: 111,193,824 (GRCm39) N616S probably damaging Het
Trav14d-3-dv8 C A 14: 53,316,247 (GRCm39) Q36K possibly damaging Het
Ttll6 T C 11: 96,049,646 (GRCm39) V788A probably damaging Het
Ube4b A T 4: 149,452,856 (GRCm39) S357T probably damaging Het
Unc80 A G 1: 66,710,834 (GRCm39) H2701R possibly damaging Het
Wdfy3 A G 5: 102,116,786 (GRCm39) S85P probably damaging Het
Other mutations in Cdca4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1372:Cdca4 UTSW 12 112,785,537 (GRCm39) nonsense probably null
R4410:Cdca4 UTSW 12 112,785,499 (GRCm39) missense probably benign 0.00
R4450:Cdca4 UTSW 12 112,785,278 (GRCm39) missense probably benign 0.02
R4835:Cdca4 UTSW 12 112,785,167 (GRCm39) missense probably damaging 1.00
R5062:Cdca4 UTSW 12 112,785,483 (GRCm39) missense probably benign 0.02
R5907:Cdca4 UTSW 12 112,785,339 (GRCm39) missense probably benign 0.00
R7097:Cdca4 UTSW 12 112,785,189 (GRCm39) missense probably benign 0.31
R8679:Cdca4 UTSW 12 112,785,734 (GRCm39) critical splice acceptor site probably null
R9003:Cdca4 UTSW 12 112,785,659 (GRCm39) missense probably benign 0.00
Posted On 2015-12-18