Incidental Mutation 'R4410:Cdca4'
ID 327875
Institutional Source Beutler Lab
Gene Symbol Cdca4
Ensembl Gene ENSMUSG00000047832
Gene Name cell division cycle associated 4
Synonyms 2410018C03Rik, Hepp, SEI-3
MMRRC Submission 041692-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.421) question?
Stock # R4410 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 112783849-112793043 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 112785499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 76 (H76Q)
Ref Sequence ENSEMBL: ENSMUSP00000152315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062092] [ENSMUST00000220899]
AlphaFold Q9CWM2
Predicted Effect probably benign
Transcript: ENSMUST00000062092
AA Change: H76Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000058901
Gene: ENSMUSG00000047832
AA Change: H76Q

DomainStartEndE-ValueType
Pfam:SERTA 33 70 9.1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220899
AA Change: H76Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 96% (46/48)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap39 A T 15: 76,609,712 (GRCm39) probably benign Het
Arrb1 G T 7: 99,247,503 (GRCm39) probably benign Het
Cadps A G 14: 12,822,323 (GRCm38) M139T probably damaging Het
Casr A G 16: 36,320,703 (GRCm39) C482R probably benign Het
Ddias A G 7: 92,507,287 (GRCm39) L876P probably benign Het
Dnah9 T C 11: 65,976,303 (GRCm39) S1249G possibly damaging Het
Dnttip1 A G 2: 164,609,739 (GRCm39) probably benign Het
Eme2 A G 17: 25,112,598 (GRCm39) S160P probably benign Het
Fbxw24 A T 9: 109,437,256 (GRCm39) D210E probably damaging Het
Folr2 T C 7: 101,489,881 (GRCm39) E129G probably damaging Het
Herc6 T A 6: 57,636,664 (GRCm39) N793K possibly damaging Het
Iqcg T G 16: 32,851,186 (GRCm39) K262Q possibly damaging Het
Lhfpl3 A G 5: 22,980,690 (GRCm39) probably benign Het
Lmod2 A C 6: 24,604,629 (GRCm39) S535R probably damaging Het
Lrp1b T A 2: 40,555,094 (GRCm39) S342C possibly damaging Het
Lrrn3 T A 12: 41,502,583 (GRCm39) Y578F possibly damaging Het
Map3k4 T A 17: 12,467,885 (GRCm39) R1050W probably damaging Het
Muc6 T A 7: 141,217,576 (GRCm39) T2301S possibly damaging Het
Mycbp2 T C 14: 103,372,702 (GRCm39) E4048G probably damaging Het
Myh3 G C 11: 66,975,858 (GRCm39) E297Q possibly damaging Het
Nkain3 A G 4: 20,778,284 (GRCm39) V11A probably benign Het
Or4c102 G A 2: 88,422,765 (GRCm39) V206I probably benign Het
P3h2 G C 16: 25,924,040 (GRCm39) R132G possibly damaging Het
Pals2 C T 6: 50,175,248 (GRCm39) Q520* probably null Het
Phgdh A G 3: 98,221,591 (GRCm39) M447T probably benign Het
Pmfbp1 G A 8: 110,258,695 (GRCm39) A667T probably benign Het
Pramel41 A T 5: 94,593,720 (GRCm39) Q15L probably benign Het
Psmd2 T G 16: 20,473,776 (GRCm39) C230G probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Slc37a3 T A 6: 39,315,747 (GRCm39) Y443F probably benign Het
Sorl1 C A 9: 41,915,288 (GRCm39) G1314* probably null Het
Spag7 T C 11: 70,555,688 (GRCm39) D83G probably damaging Het
St7 C T 6: 17,854,932 (GRCm39) R267* probably null Het
Syne2 C T 12: 76,141,167 (GRCm39) S99L probably damaging Het
Tacc2 T G 7: 130,343,941 (GRCm39) S2533R possibly damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Uaca T G 9: 60,777,173 (GRCm39) V518G probably damaging Het
Usp43 T C 11: 67,746,716 (GRCm39) E992G probably benign Het
Vmn1r55 A G 7: 5,150,075 (GRCm39) V116A probably benign Het
Wdr3 G A 3: 100,047,543 (GRCm39) T844M probably benign Het
Wdr7 T A 18: 63,911,320 (GRCm39) M904K probably damaging Het
Zbtb39 A G 10: 127,578,696 (GRCm39) I423M possibly damaging Het
Zmym1 A T 4: 126,941,897 (GRCm39) C830* probably null Het
Other mutations in Cdca4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02839:Cdca4 APN 12 112,785,511 (GRCm39) missense probably damaging 1.00
R1372:Cdca4 UTSW 12 112,785,537 (GRCm39) nonsense probably null
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'- ACTTCTGAAAGCTTCCCCTG -3'
(R):5'- AGAGGGTTTTGGCACTGTCC -3'

Sequencing Primer
(F):5'- TGTCCATCTCCCAGAGGCTG -3'
(R):5'- GGCACTGTCCCTTCCTATAGC -3'
Posted On 2015-07-07