Incidental Mutation 'R9765:Cdca8'
ID 733194
Institutional Source Beutler Lab
Gene Symbol Cdca8
Ensembl Gene ENSMUSG00000028873
Gene Name cell division cycle associated 8
Synonyms D4Ertd421e, Borealin, DasraB, 4831429J16Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9765 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 124812258-124830710 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124814122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 223 (I223T)
Ref Sequence ENSEMBL: ENSMUSP00000030690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030690] [ENSMUST00000084296]
AlphaFold Q8BHX3
Predicted Effect probably benign
Transcript: ENSMUST00000030690
AA Change: I223T

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000030690
Gene: ENSMUSG00000028873
AA Change: I223T

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 benign
Transcript: ENSMUST00000084296
AA Change: I223T

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000081319
Gene: ENSMUSG00000028873
AA Change: I223T

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 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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.6%
Validation Efficiency
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,404,829 (GRCm39) V25I probably benign Het
Actr1b T A 1: 36,741,677 (GRCm39) H65L probably benign Het
Adgrf5 G A 17: 43,748,491 (GRCm39) G440E probably damaging Het
Ash1l T A 3: 88,930,500 (GRCm39) D1992E probably damaging Het
Cacng4 A G 11: 107,632,809 (GRCm39) F81S probably damaging Het
Cdh19 A G 1: 110,823,111 (GRCm39) probably null Het
Ces2f A G 8: 105,676,678 (GRCm39) D124G probably damaging Het
Cks1brt A G 8: 85,898,234 (GRCm39) Y29C probably damaging Het
Cntnap4 T C 8: 113,484,110 (GRCm39) S388P probably benign Het
Cntnap4 T C 8: 113,568,496 (GRCm39) I844T probably damaging Het
Col4a3 G A 1: 82,646,678 (GRCm39) W396* probably null Het
Cul9 A T 17: 46,850,224 (GRCm39) S449T probably benign Het
Cux2 G A 5: 122,007,195 (GRCm39) P822L probably benign Het
Cyp3a13 G C 5: 137,909,883 (GRCm39) P147A probably damaging Het
Dennd2a C T 6: 39,473,907 (GRCm39) probably null Het
Dgkg T C 16: 22,298,157 (GRCm39) M743V possibly damaging Het
Dhx35 C T 2: 158,671,501 (GRCm39) R311W probably benign Het
Dnase1l2 A T 17: 24,660,049 (GRCm39) V273E probably damaging Het
Dock8 T G 19: 25,146,832 (GRCm39) I1437S possibly damaging Het
Dpy19l3 T C 7: 35,408,056 (GRCm39) D450G probably benign Het
Dsg4 G A 18: 20,604,334 (GRCm39) V934I probably benign Het
Eef2 T A 10: 81,015,010 (GRCm39) F236L possibly damaging Het
Eml4 A G 17: 83,747,498 (GRCm39) I247V probably damaging Het
Evi5 A C 5: 107,947,120 (GRCm39) C451G probably benign Het
Fam124a T G 14: 62,824,883 (GRCm39) W126G probably damaging Het
Fbxw21 A G 9: 108,975,625 (GRCm39) I257T possibly damaging Het
Fn3krp A G 11: 121,312,304 (GRCm39) K6E probably benign Het
Gcn1 G A 5: 115,735,131 (GRCm39) W1149* probably null Het
Glud1 C T 14: 34,060,795 (GRCm39) R453* probably null Het
Gtf2f1 G A 17: 57,318,125 (GRCm39) probably benign Het
Gtpbp4 T A 13: 9,024,994 (GRCm39) D532V probably benign Het
Ifnar2 G A 16: 91,184,975 (GRCm39) R122H possibly damaging Het
Ift70b A T 2: 75,768,467 (GRCm39) Y95* probably null Het
Ipo11 A G 13: 107,061,556 (GRCm39) W35R probably damaging Het
Iqgap3 G A 3: 88,017,361 (GRCm39) R1115Q possibly damaging Het
Kifc5b A G 17: 27,142,239 (GRCm39) E239G probably damaging Het
Map3k7 A T 4: 32,019,519 (GRCm39) E553D probably damaging Het
Mdh1 G T 11: 21,512,926 (GRCm39) S146* probably null Het
Muc16 C A 9: 18,548,494 (GRCm39) W5933L probably benign Het
Myo16 C A 8: 10,620,401 (GRCm39) P1651T probably damaging Het
Naip5 C G 13: 100,367,269 (GRCm39) A276P probably damaging Het
Noxo1 G T 17: 24,915,386 (GRCm39) probably benign Het
Or4k49 T A 2: 111,495,230 (GRCm39) Y220N probably benign Het
Pcdhgb6 A T 18: 37,876,054 (GRCm39) N254I possibly damaging Het
Peli3 A T 19: 4,991,850 (GRCm39) C30* probably null Het
Plb1 T A 5: 32,512,731 (GRCm39) M1363K probably damaging Het
Ppp4r4 G T 12: 103,550,346 (GRCm39) E257* probably null Het
Rbm20 T G 19: 53,840,060 (GRCm39) S1016R probably benign Het
Rcn1 A T 2: 105,225,026 (GRCm39) L143Q possibly damaging Het
Retreg1 G A 15: 25,940,985 (GRCm39) G3D unknown Het
Rrm2 A G 12: 24,758,956 (GRCm39) N65D probably benign Het
Samhd1 G T 2: 156,965,219 (GRCm39) H199N probably damaging Het
Slain2 T A 5: 73,114,969 (GRCm39) L400* probably null Het
Slc26a7 A T 4: 14,522,862 (GRCm39) M486K probably benign Het
Slc30a4 A T 2: 122,536,456 (GRCm39) Y133N probably damaging Het
Spef2 A T 15: 9,601,945 (GRCm39) F1439Y unknown Het
Srpra T C 9: 35,122,670 (GRCm39) V29A possibly damaging Het
St3gal1 T C 15: 66,981,499 (GRCm39) T226A possibly damaging Het
Tas2r136 T A 6: 132,754,813 (GRCm39) I105F probably benign Het
Tmem208 A G 8: 106,061,506 (GRCm39) *177W probably null Het
Utrn T A 10: 12,610,921 (GRCm39) N478I probably damaging Het
Zbtb37 T C 1: 160,859,432 (GRCm39) Y291C probably damaging Het
Zc3h3 T G 15: 75,709,459 (GRCm39) H470P probably benign Het
Zfp40 A T 17: 23,395,863 (GRCm39) Y241* probably null Het
Zfp457 T C 13: 67,440,874 (GRCm39) N567S probably benign Het
Zfp458 C T 13: 67,408,217 (GRCm39) V33M probably damaging Het
Zfp953 A T 13: 67,491,478 (GRCm39) I158N possibly damaging 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
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
X0026:Cdca8 UTSW 4 124,820,496 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGGAGAGAACACTAGGCTCTG -3'
(R):5'- CAGCTTGAAAACTGTTCTCCTG -3'

Sequencing Primer
(F):5'- AGAGAGAGGTTGTACTGTG -3'
(R):5'- GAATTTGCCTTCTTAGAAACGTGAC -3'
Posted On 2022-11-14