Incidental Mutation 'R5077:Cdca8'
ID 401928
Institutional Source Beutler Lab
Gene Symbol Cdca8
Ensembl Gene ENSMUSG00000028873
Gene Name cell division cycle associated 8
Synonyms D4Ertd421e, Borealin, DasraB, 4831429J16Rik
MMRRC Submission 042666-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5077 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 124812258-124830710 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124820470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 109 (K109E)
Ref Sequence ENSEMBL: ENSMUSP00000081319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030690] [ENSMUST00000084296] [ENSMUST00000165281]
AlphaFold Q8BHX3
Predicted Effect probably damaging
Transcript: ENSMUST00000030690
AA Change: K109E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030690
Gene: ENSMUSG00000028873
AA Change: K109E

DomainStartEndE-ValueType
Pfam:Nbl1_Borealin_N 20 76 1.9e-20 PFAM
low complexity region 109 139 N/A INTRINSIC
Pfam:Borealin 148 286 5.9e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000084296
AA Change: K109E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081319
Gene: ENSMUSG00000028873
AA Change: K109E

DomainStartEndE-ValueType
Pfam:Nbl1_Borealin_N 19 77 2.7e-24 PFAM
low complexity region 109 139 N/A INTRINSIC
Pfam:Borealin 173 286 2.4e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125801
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135571
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147074
Predicted Effect probably benign
Transcript: ENSMUST00000165281
SMART Domains Protein: ENSMUSP00000132145
Gene: ENSMUSG00000028873

DomainStartEndE-ValueType
Pfam:Nbl1_Borealin_N 19 77 1.5e-25 PFAM
Meta Mutation Damage Score 0.3726 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 93% (51/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the chromosomal passenger complex. This complex is an essential regulator of mitosis and cell division. This protein is cell-cycle regulated and is required for chromatin-induced microtubule stabilization and spindle formation. Alternate splicing results in multiple transcript variants. Pseudgenes of this gene are found on chromosomes 7, 8 and 16. [provided by RefSeq, Apr 2013]
PHENOTYPE: Mice homozygous for a reporter allele exhibit early embryonic lethality due to mitotic defects associated with abnormal microtubule organization and mislocalization of the chromosomal passenger protein complex. Blastocysts fail to develop past E3.5 and undergo apoptosis by E5.5. [provided by MGI curators]
Allele List at MGI

All alleles(14) : Targeted(2) Gene trapped(12)
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l A G 8: 44,080,200 (GRCm39) V8A possibly damaging Het
Agbl4 A T 4: 111,423,939 (GRCm39) M322L probably benign Het
Ankrd55 A G 13: 112,492,522 (GRCm39) K231R probably benign Het
Asap1 A C 15: 63,999,272 (GRCm39) M534R probably damaging Het
B4galnt2 T A 11: 95,767,140 (GRCm39) probably benign Het
Cacna1e A T 1: 154,437,475 (GRCm39) probably null Het
Cacna1h T C 17: 25,594,224 (GRCm39) I2311M probably benign Het
Capn2 G T 1: 182,300,138 (GRCm39) D617E possibly damaging Het
Catsper1 A G 19: 5,385,998 (GRCm39) D77G probably damaging Het
Cdc42bpa A T 1: 179,922,098 (GRCm39) probably benign Het
Dbx1 A G 7: 49,283,242 (GRCm39) S223P probably damaging Het
Dlg4 A G 11: 69,917,852 (GRCm39) N45S possibly damaging Het
Dlgap2 T G 8: 14,872,691 (GRCm39) V723G probably benign Het
Efl1 C A 7: 82,307,295 (GRCm39) Q64K probably damaging Het
Eml1 T A 12: 108,472,871 (GRCm39) probably benign Het
Fbxw16 A G 9: 109,270,117 (GRCm39) probably null Het
Gm10800 A T 2: 98,497,379 (GRCm39) L80M probably benign Het
H4c16 A G 6: 136,781,113 (GRCm39) Y89H probably benign Het
Insig2 A T 1: 121,239,964 (GRCm39) V112E probably damaging Het
Kcnip3 A G 2: 127,307,797 (GRCm39) S123P probably damaging Het
Map3k9 T C 12: 81,780,851 (GRCm39) probably null Het
Myo16 T C 8: 10,372,658 (GRCm39) V119A probably damaging Het
Naa25 G A 5: 121,562,639 (GRCm39) V474M probably benign Het
Nckap1 A T 2: 80,379,277 (GRCm39) V219E probably damaging Het
Niban1 A G 1: 151,590,274 (GRCm39) I523V probably benign Het
Nrp1 G T 8: 129,227,154 (GRCm39) probably null Het
Nsun4 A T 4: 115,905,781 (GRCm39) D58E probably benign Het
Obscn G T 11: 58,934,883 (GRCm39) A5249D probably damaging Het
Or8k53 A T 2: 86,177,683 (GRCm39) H142Q probably benign Het
Osmr A T 15: 6,873,874 (GRCm39) Y174* probably null Het
Pi4k2a T C 19: 42,108,275 (GRCm39) probably null Het
Pram1 C T 17: 33,863,878 (GRCm39) Q572* probably null Het
Prdm5 C A 6: 65,756,158 (GRCm39) T25K probably damaging Het
Psen1 T C 12: 83,771,439 (GRCm39) Y240H probably damaging Het
Pygl C T 12: 70,248,666 (GRCm39) G318S probably benign Het
Rbck1 A C 2: 152,160,371 (GRCm39) M436R probably benign Het
Resf1 T G 6: 149,227,528 (GRCm39) S191R probably benign Het
Rmnd1 T C 10: 4,377,488 (GRCm39) N64D possibly damaging Het
Rsph4a A G 10: 33,784,275 (GRCm39) D299G probably damaging Het
Sema4c T C 1: 36,590,812 (GRCm39) S480G probably benign Het
Srp68 T C 11: 116,136,638 (GRCm39) D552G probably damaging Het
Syde2 G T 3: 145,707,764 (GRCm39) A568S probably damaging Het
Szrd1 G T 4: 140,867,092 (GRCm39) probably null Het
Szt2 A T 4: 118,226,813 (GRCm39) probably null Het
Tbc1d31 A G 15: 57,818,797 (GRCm39) E800G probably benign Het
Tmprss11d C A 5: 86,457,122 (GRCm39) probably null Het
Usp37 A G 1: 74,480,720 (GRCm39) V895A probably damaging Het
Vmn1r19 T C 6: 57,382,026 (GRCm39) I193T probably benign Het
Vmn2r102 T C 17: 19,897,834 (GRCm39) V283A probably benign Het
Vps13d C T 4: 144,814,811 (GRCm39) G3180D probably damaging Het
Xirp2 A C 2: 67,344,821 (GRCm39) D2354A probably benign Het
Zc3h14 T A 12: 98,723,465 (GRCm39) probably null Het
Other mutations in Cdca8
AlleleSourceChrCoordTypePredicted EffectPPH Score
P0024:Cdca8 UTSW 4 124,820,457 (GRCm39) critical splice donor site probably null
R0017:Cdca8 UTSW 4 124,814,168 (GRCm39) missense probably benign 0.15
R0017:Cdca8 UTSW 4 124,814,168 (GRCm39) missense probably benign 0.15
R0025:Cdca8 UTSW 4 124,815,047 (GRCm39) missense possibly damaging 0.90
R1024:Cdca8 UTSW 4 124,815,798 (GRCm39) missense probably benign 0.00
R4689:Cdca8 UTSW 4 124,824,896 (GRCm39) missense probably damaging 1.00
R5597:Cdca8 UTSW 4 124,812,793 (GRCm39) missense probably damaging 1.00
R6319:Cdca8 UTSW 4 124,815,087 (GRCm39) missense possibly damaging 0.81
R6390:Cdca8 UTSW 4 124,830,168 (GRCm39) missense probably damaging 1.00
R7818:Cdca8 UTSW 4 124,820,456 (GRCm39) critical splice donor site probably null
R9100:Cdca8 UTSW 4 124,830,238 (GRCm39) missense probably benign 0.25
R9605:Cdca8 UTSW 4 124,830,384 (GRCm39) missense probably damaging 1.00
R9765:Cdca8 UTSW 4 124,814,122 (GRCm39) missense probably benign 0.11
X0026:Cdca8 UTSW 4 124,820,496 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCACAAGGGTTTGAAATGCAC -3'
(R):5'- CAAGATCTTTGGTCTTGCATCG -3'

Sequencing Primer
(F):5'- CTTACACCATTAAAGGTCTCGGGAG -3'
(R):5'- GCATCGTGTGGTAGGTTTATAATTC -3'
Posted On 2016-07-22