Incidental Mutation 'R1372:Cdca4'
ID 157376
Institutional Source Beutler Lab
Gene Symbol Cdca4
Ensembl Gene ENSMUSG00000047832
Gene Name cell division cycle associated 4
Synonyms 2410018C03Rik, Hepp, SEI-3
MMRRC Submission 039436-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.467) question?
Stock # R1372 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 112783849-112793043 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 112785537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 64 (Q64*)
Ref Sequence ENSEMBL: ENSMUSP00000152315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062092] [ENSMUST00000220899]
AlphaFold Q9CWM2
Predicted Effect probably null
Transcript: ENSMUST00000062092
AA Change: Q64*
SMART Domains Protein: ENSMUSP00000058901
Gene: ENSMUSG00000047832
AA Change: Q64*

DomainStartEndE-ValueType
Pfam:SERTA 33 70 9.1e-22 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000220899
AA Change: Q64*
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.7%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik T A 8: 117,698,696 (GRCm39) Q137L possibly damaging Het
Abca12 A G 1: 71,334,016 (GRCm39) I1162T probably damaging Het
Adcy2 T A 13: 68,816,652 (GRCm39) N778I probably damaging Het
Adgre5 G A 8: 84,454,949 (GRCm39) P248S probably damaging Het
Akap13 G A 7: 75,259,340 (GRCm39) G655S possibly damaging Het
Ankrd28 A T 14: 31,467,218 (GRCm39) M248K probably benign Het
Asxl3 T G 18: 22,543,066 (GRCm39) S20A probably benign Het
Atf7ip2 G A 16: 10,052,195 (GRCm39) V225I probably damaging Het
Car10 A T 11: 93,469,525 (GRCm39) T167S probably benign Het
Cbx7 C T 15: 79,803,074 (GRCm39) G160R probably damaging Het
Cd209d C A 8: 3,928,515 (GRCm39) probably benign Het
Cela2a C T 4: 141,546,405 (GRCm39) G178D probably damaging Het
Cntnap5b G A 1: 100,091,813 (GRCm39) D499N probably benign Het
Cox7a2 G A 9: 79,665,819 (GRCm39) R21* probably null Het
Crmp1 G A 5: 37,446,155 (GRCm39) G604R probably benign Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Cxcr1 T C 1: 74,231,161 (GRCm39) D287G probably benign Het
Cyp4a12b T C 4: 115,290,146 (GRCm39) I233T probably benign Het
Dlg1 T C 16: 31,631,638 (GRCm39) I208T probably damaging Het
Dsg4 C A 18: 20,582,733 (GRCm39) probably null Het
Epha3 A G 16: 63,431,416 (GRCm39) I495T possibly damaging Het
Hmcn1 A T 1: 150,556,466 (GRCm39) M2440K probably benign Het
Klb G C 5: 65,506,089 (GRCm39) R112P possibly damaging Het
Leo1 T C 9: 75,356,751 (GRCm39) V377A possibly damaging Het
Lsg1 A G 16: 30,383,472 (GRCm39) F583L possibly damaging Het
Mphosph9 A T 5: 124,421,808 (GRCm39) probably null Het
Mpp3 A G 11: 101,891,401 (GRCm39) V579A probably damaging Het
Oca2 T A 7: 56,185,716 (GRCm39) M814K probably benign Het
Odad3 C T 9: 21,904,916 (GRCm39) R290H probably damaging Het
Pdgfra A G 5: 75,349,924 (GRCm39) E936G probably damaging Het
Pkd1 T C 17: 24,794,240 (GRCm39) C1976R probably damaging Het
Plekhg5 G A 4: 152,189,188 (GRCm39) R243H probably damaging Het
Pogz T A 3: 94,768,199 (GRCm39) L126M probably damaging Het
Rbm15 G T 3: 107,239,946 (GRCm39) R151S possibly damaging Het
Rec8 T C 14: 55,856,431 (GRCm39) Y68H probably damaging Het
Rhcg A T 7: 79,249,122 (GRCm39) D366E probably benign Het
Ryr3 T A 2: 112,664,546 (GRCm39) S1582C probably damaging Het
Sh3pxd2a A T 19: 47,256,160 (GRCm39) W853R probably damaging Het
Spopfm1 A G 3: 94,173,435 (GRCm39) T148A possibly damaging Het
Tnxb T C 17: 34,929,267 (GRCm39) V2770A possibly damaging Het
Vmn2r63 A G 7: 42,578,642 (GRCm39) F84L possibly damaging Het
Other mutations in Cdca4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02839:Cdca4 APN 12 112,785,511 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- GAGCATCTTCCAGTTCAGGAGCAG -3'
(R):5'- AGGCAACCTCTCAGATAGTGTCTCG -3'

Sequencing Primer
(F):5'- CAGTTCAGGAGCAGGGTGC -3'
(R):5'- CTCACAGGACAGGATGTTTGC -3'
Posted On 2014-02-18