Incidental Mutation 'R5597:Cdca8'
ID 437866
Institutional Source Beutler Lab
Gene Symbol Cdca8
Ensembl Gene ENSMUSG00000028873
Gene Name cell division cycle associated 8
Synonyms D4Ertd421e, Borealin, DasraB, 4831429J16Rik
MMRRC Submission 043149-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5597 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 124812258-124830710 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 124812793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 286 (R286W)
Ref Sequence ENSEMBL: ENSMUSP00000081319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030690] [ENSMUST00000084296]
AlphaFold Q8BHX3
Predicted Effect probably benign
Transcript: ENSMUST00000030690
SMART Domains Protein: ENSMUSP00000030690
Gene: ENSMUSG00000028873

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: R286W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081319
Gene: ENSMUSG00000028873
AA Change: R286W

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: ENSMUST00000149146
SMART Domains Protein: ENSMUSP00000118801
Gene: ENSMUSG00000028876

DomainStartEndE-ValueType
Pfam:Ephrin_lbd 1 66 2.2e-25 PFAM
low complexity region 74 87 N/A INTRINSIC
FN3 193 290 6.54e-6 SMART
FN3 306 392 1.66e-7 SMART
Pfam:EphA2_TM 421 496 2.4e-15 PFAM
TyrKc 499 754 5.17e-90 SMART
SAM 784 851 1.2e-15 SMART
low complexity region 852 862 N/A INTRINSIC
Meta Mutation Damage Score 0.8314 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (55/55)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G A 11: 109,927,363 (GRCm39) T1330I probably damaging Het
Aebp1 T C 11: 5,816,487 (GRCm39) V322A probably benign Het
Anks3 T A 16: 4,771,793 (GRCm39) H77L possibly damaging Het
Bsn A T 9: 107,992,131 (GRCm39) M1207K probably benign Het
Btla A G 16: 45,064,599 (GRCm39) T183A probably benign Het
Cnot6l T C 5: 96,278,978 (GRCm39) D80G probably damaging Het
Col16a1 A G 4: 129,952,097 (GRCm39) D93G probably damaging Het
Ctsk T C 3: 95,409,007 (GRCm39) V130A probably damaging Het
Cul9 T C 17: 46,813,591 (GRCm39) E2294G possibly damaging Het
Dcaf5 G T 12: 80,386,817 (GRCm39) S436R probably damaging Het
Dnah7a A T 1: 53,573,611 (GRCm39) L1792H probably benign Het
Dst T C 1: 34,231,794 (GRCm39) V3307A probably benign Het
Frrs1 C T 3: 116,671,887 (GRCm39) probably benign Het
Gimap4 T C 6: 48,667,698 (GRCm39) L151P probably damaging Het
Hook2 A G 8: 85,720,657 (GRCm39) N166S probably benign Het
Hp1bp3 A T 4: 137,948,939 (GRCm39) M1L possibly damaging Het
Igkv4-56 T A 6: 69,564,467 (GRCm39) noncoding transcript Het
Kdm6b C T 11: 69,296,900 (GRCm39) A456T probably damaging Het
Lamc1 A G 1: 153,127,716 (GRCm39) C396R probably damaging Het
Lars2 A T 9: 123,284,047 (GRCm39) D745V probably damaging Het
Macf1 A T 4: 123,433,570 (GRCm39) probably benign Het
Mapk4 T A 18: 74,070,341 (GRCm39) Y184F probably benign Het
Mgat5 A G 1: 127,325,303 (GRCm39) Y390C probably damaging Het
Msh2 T C 17: 88,030,789 (GRCm39) S889P probably benign Het
Nebl A G 2: 17,382,978 (GRCm39) S100P probably benign Het
Nudt7 A T 8: 114,878,506 (GRCm39) H154L probably benign Het
Olig2 A T 16: 91,023,768 (GRCm39) M161L probably benign Het
Or2ah1 T C 2: 85,653,804 (GRCm39) L163P probably damaging Het
Or5h24 A T 16: 58,918,710 (GRCm39) V215D unknown Het
Or6c214 T C 10: 129,590,755 (GRCm39) D188G probably damaging Het
Palmd T A 3: 116,717,225 (GRCm39) D424V probably damaging Het
Pdzk1ip1 A G 4: 114,950,689 (GRCm39) N164D probably damaging Het
Prkag1 A G 15: 98,713,789 (GRCm39) S14P probably damaging Het
Prss12 C T 3: 123,258,389 (GRCm39) P161L probably benign Het
Pwwp2a T C 11: 43,573,422 (GRCm39) V168A probably benign Het
Rassf7 A G 7: 140,797,024 (GRCm39) D79G probably damaging Het
Rgs3 A T 4: 62,542,082 (GRCm39) I19F probably damaging Het
Slc30a10 C A 1: 185,194,897 (GRCm39) H236Q probably damaging Het
Slco3a1 C A 7: 73,934,210 (GRCm39) R654L probably benign Het
Smad4 A C 18: 73,795,898 (GRCm39) F165L probably benign Het
Swsap1 G T 9: 21,867,242 (GRCm39) R62M probably damaging Het
Tenm4 T A 7: 96,202,724 (GRCm39) M113K probably benign Het
Tmem225 A G 9: 40,060,726 (GRCm39) N95S possibly damaging Het
Tnni3k A T 3: 154,577,765 (GRCm39) L658H probably damaging Het
Trem2 G A 17: 48,658,840 (GRCm39) V202I probably benign Het
Tyw1 C T 5: 130,303,498 (GRCm39) L289F probably benign Het
Vcam1 T A 3: 115,919,651 (GRCm39) D205V probably damaging Het
Vmn2r-ps158 A G 7: 42,674,073 (GRCm39) D377G probably benign Het
Yy1 A G 12: 108,781,436 (GRCm39) D367G probably damaging Het
Zfp11 A T 5: 129,734,166 (GRCm39) C432S probably benign 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
R5077:Cdca8 UTSW 4 124,820,470 (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'- TTCCCACTAACTAGAAGTGTGCAG -3'
(R):5'- TCTCCACTCAGATCCAGGCTTG -3'

Sequencing Primer
(F):5'- GTGCAGCAAGACACCATAGCTG -3'
(R):5'- TTCGGCAAACATGGCAGTTC -3'
Posted On 2016-10-26