Incidental Mutation 'R4450:Cdca4'
ID 328941
Institutional Source Beutler Lab
Gene Symbol Cdca4
Ensembl Gene ENSMUSG00000047832
Gene Name cell division cycle associated 4
Synonyms 2410018C03Rik, Hepp, SEI-3
MMRRC Submission 041711-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.421) question?
Stock # R4450 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 112783849-112793043 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112785278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 150 (N150S)
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: N150S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000058901
Gene: ENSMUSG00000047832
AA Change: N150S

DomainStartEndE-ValueType
Pfam:SERTA 33 70 9.1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220899
AA Change: N150S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Meta Mutation Damage Score 0.0605 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (43/44)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3930402G23Rik T A 8: 10,976,129 (GRCm39) noncoding transcript Het
Acsl6 A G 11: 54,219,229 (GRCm39) D278G probably damaging Het
Adamdec1 C T 14: 68,810,568 (GRCm39) R196Q probably benign Het
Akap13 T A 7: 75,392,508 (GRCm39) F2450L probably damaging Het
Alg11 C A 8: 22,558,095 (GRCm39) A469E probably benign Het
Angel1 A T 12: 86,768,698 (GRCm39) Y262N probably damaging Het
Arhgef18 A G 8: 3,487,097 (GRCm39) E272G probably damaging Het
Bpifb6 A G 2: 153,748,688 (GRCm39) E228G possibly damaging Het
Brca2 T G 5: 150,459,518 (GRCm39) D264E probably damaging Het
Cep162 T C 9: 87,107,861 (GRCm39) S510G probably damaging Het
Cldn12 T C 5: 5,558,398 (GRCm39) T10A probably damaging Het
Clip2 C T 5: 134,531,807 (GRCm39) G631D possibly damaging Het
Col19a1 T A 1: 24,361,116 (GRCm39) T625S probably damaging Het
Col6a5 C T 9: 105,781,720 (GRCm39) G1635D unknown Het
Dcp1b A G 6: 119,183,437 (GRCm39) T175A probably benign Het
Eln C T 5: 134,754,635 (GRCm39) probably benign Het
Galnt2 A G 8: 125,022,116 (GRCm39) D14G probably benign Het
Gm9894 T A 13: 67,913,199 (GRCm39) noncoding transcript Het
Herc2 T C 7: 55,877,640 (GRCm39) L4569P probably damaging Het
Iqcm T C 8: 76,356,394 (GRCm39) S176P probably damaging Het
Klhl42 G A 6: 146,993,169 (GRCm39) G47D probably benign Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lzts2 A T 19: 45,012,032 (GRCm39) K154* probably null Het
Map4k3 C T 17: 80,911,411 (GRCm39) probably null Het
Mlc1 A G 15: 88,847,693 (GRCm39) F285S probably benign Het
Myo5a T A 9: 75,074,458 (GRCm39) M789K probably benign Het
Nbeal1 T A 1: 60,306,933 (GRCm39) S319T probably damaging Het
Nsun4 A T 4: 115,908,453 (GRCm39) Y702* probably null Het
Or8b52 A T 9: 38,577,050 (GRCm39) V30E probably benign Het
Or8g34 G A 9: 39,373,328 (GRCm39) M200I probably benign Het
Osbpl5 T A 7: 143,248,643 (GRCm39) T640S probably benign Het
Plaat1 C T 16: 29,046,976 (GRCm39) T165M possibly damaging Het
Rangrf A T 11: 68,866,010 (GRCm39) probably benign Het
Rnpc3 T C 3: 113,404,786 (GRCm39) probably benign Het
Ros1 C T 10: 51,954,038 (GRCm39) G1867D probably damaging Het
Slc11a1 C A 1: 74,424,694 (GRCm39) probably benign Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Syt6 A G 3: 103,492,961 (GRCm39) H156R probably benign Het
Tln2 C T 9: 67,251,347 (GRCm39) probably null Het
Trim58 T C 11: 58,542,191 (GRCm39) W384R probably benign Het
Wwc2 A G 8: 48,321,702 (GRCm39) Y471H unknown 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
R4410:Cdca4 UTSW 12 112,785,499 (GRCm39) missense probably benign 0.00
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'- AGACTTGCAAGTGGAACTGG -3'
(R):5'- CCAGAATGTAGATCGGGCAC -3'

Sequencing Primer
(F):5'- TGCAGCAAAGCCCTCAAGG -3'
(R):5'- AGTTGAACGCCTGGTGTCC -3'
Posted On 2015-07-21