Incidental Mutation 'R4689:Cdca8'
ID 354761
Institutional Source Beutler Lab
Gene Symbol Cdca8
Ensembl Gene ENSMUSG00000028873
Gene Name cell division cycle associated 8
Synonyms D4Ertd421e, Borealin, DasraB, 4831429J16Rik
MMRRC Submission 041940-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4689 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 124812258-124830710 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 124824896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 78 (G78E)
Ref Sequence ENSEMBL: ENSMUSP00000132145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030690] [ENSMUST00000084296] [ENSMUST00000165281]
AlphaFold Q8BHX3
Predicted Effect probably damaging
Transcript: ENSMUST00000030690
AA Change: G78E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030690
Gene: ENSMUSG00000028873
AA Change: G78E

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: G78E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081319
Gene: ENSMUSG00000028873
AA Change: G78E

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 damaging
Transcript: ENSMUST00000165281
AA Change: G78E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132145
Gene: ENSMUSG00000028873
AA Change: G78E

DomainStartEndE-ValueType
Pfam:Nbl1_Borealin_N 19 77 1.5e-25 PFAM
Meta Mutation Damage Score 0.6818 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 97% (72/74)
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
Abcc10 C A 17: 46,634,996 (GRCm39) V336L probably benign Het
Acbd4 T C 11: 102,996,194 (GRCm39) L165P possibly damaging Het
Adam10 T C 9: 70,673,236 (GRCm39) S456P possibly damaging Het
Adgre4 T C 17: 56,109,096 (GRCm39) F368L probably damaging Het
Ahcyl1 G T 3: 107,572,834 (GRCm39) Y528* probably null Het
Aldh3b3 G A 19: 4,014,516 (GRCm39) V84M probably damaging Het
Cry2 T C 2: 92,254,899 (GRCm39) D152G probably benign Het
Cyp2c67 T C 19: 39,627,032 (GRCm39) Y266C probably benign Het
Dkk4 T C 8: 23,115,336 (GRCm39) F62S probably benign Het
Dnah12 G A 14: 26,427,994 (GRCm39) V207I probably benign Het
Dthd1 T C 5: 63,000,255 (GRCm39) C526R probably damaging Het
Dubr A T 16: 50,552,866 (GRCm39) noncoding transcript Het
F5 T C 1: 163,979,542 (GRCm39) probably benign Het
Flcn A C 11: 59,691,870 (GRCm39) W260G possibly damaging Het
Fmnl1 G A 11: 103,084,562 (GRCm39) probably null Het
Frem2 A T 3: 53,455,056 (GRCm39) D2173E probably benign Het
Fstl4 C T 11: 52,959,477 (GRCm39) Q173* probably null Het
Gfra3 G A 18: 34,823,640 (GRCm39) P381S unknown Het
Gm28308 C A 6: 52,190,291 (GRCm39) probably benign Het
Gm8730 T A 8: 103,592,379 (GRCm39) noncoding transcript Het
Gzmd T C 14: 56,368,683 (GRCm39) probably null Het
Hexb A G 13: 97,317,600 (GRCm39) Y366H probably damaging Het
Hydin A T 8: 111,322,046 (GRCm39) H4566L probably benign Het
Ifi213 G A 1: 173,417,986 (GRCm39) T142I possibly damaging Het
Kif13b T A 14: 65,010,513 (GRCm39) C1271S probably damaging Het
Krtap9-5 G T 11: 99,840,286 (GRCm39) C329F unknown Het
Larp1 G T 11: 57,932,439 (GRCm39) G207W probably damaging Het
Lfng A G 5: 140,600,194 (GRCm39) D368G probably damaging Het
Mbd5 G A 2: 49,148,291 (GRCm39) V834I possibly damaging Het
Mterf1b T A 5: 4,247,263 (GRCm39) Y301* probably null Het
Myh7b T C 2: 155,472,434 (GRCm39) I1305T possibly damaging Het
Myo16 T C 8: 10,488,890 (GRCm39) V687A probably damaging Het
Naip2 A T 13: 100,285,320 (GRCm39) I1292N probably damaging Het
Nmral1 A G 16: 4,532,422 (GRCm39) F130L probably damaging Het
Nos1 A G 5: 118,017,450 (GRCm39) N271S probably benign Het
Nrap A G 19: 56,374,458 (GRCm39) S23P probably damaging Het
Or12d16-ps1 A T 17: 37,705,662 (GRCm39) N77I probably damaging Het
Or2aj4 A T 16: 19,385,263 (GRCm39) Y123* probably null Het
Or4e2 T C 14: 52,688,671 (GRCm39) I267T probably benign Het
Or6c210 T C 10: 129,496,185 (GRCm39) V170A probably benign Het
Pkdcc C G 17: 83,523,290 (GRCm39) C132W probably damaging Het
Plekhg6 G A 6: 125,350,144 (GRCm39) L265F probably benign Het
Prkaa1 A G 15: 5,208,177 (GRCm39) T473A probably benign Het
Prpf3 G A 3: 95,743,801 (GRCm39) Q451* probably null Het
Psma5-ps T A 10: 85,150,065 (GRCm39) noncoding transcript Het
Ptprh T A 7: 4,600,996 (GRCm39) D127V possibly damaging Het
Rab36 T C 10: 74,877,765 (GRCm39) probably null Het
Rasa1 A T 13: 85,386,282 (GRCm39) Y427* probably null Het
Rgs11 T C 17: 26,423,521 (GRCm39) probably null Het
Serpinb13 C T 1: 106,910,574 (GRCm39) S66L probably damaging Het
Shank2 G A 7: 143,974,342 (GRCm39) V1087I probably benign Het
Slc39a10 A C 1: 46,875,173 (GRCm39) M43R probably benign Het
Slc40a1 T A 1: 45,951,473 (GRCm39) Q228L probably benign Het
Slc45a1 A T 4: 150,722,996 (GRCm39) L296Q probably benign Het
Stambpl1 A G 19: 34,213,691 (GRCm39) T307A probably benign Het
Stt3a T C 9: 36,644,225 (GRCm39) T705A possibly damaging Het
Tec G A 5: 72,980,980 (GRCm39) probably benign Het
Trp63 A T 16: 25,684,012 (GRCm39) T300S possibly damaging Het
Vmn1r235 A G 17: 21,482,623 (GRCm39) H316R probably benign Het
Vmn2r1 A G 3: 64,012,074 (GRCm39) H645R possibly damaging Het
Wdfy4 A G 14: 32,831,505 (GRCm39) I907T possibly damaging Het
Zcchc10 A G 11: 53,218,151 (GRCm39) T33A probably benign Het
Zfp318 T A 17: 46,710,560 (GRCm39) V761D probably damaging Het
Zfp358 T C 8: 3,546,146 (GRCm39) probably null Het
Zfp661 G A 2: 127,419,468 (GRCm39) P224L probably damaging Het
Zfp937 T C 2: 150,078,706 (GRCm39) M33T probably damaging Het
Zfp955a T C 17: 33,461,040 (GRCm39) H364R probably 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
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
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'- TTCATGCATACAGTAACGACACAAG -3'
(R):5'- TCCAAGCTCTGAGTCTGAGG -3'

Sequencing Primer
(F):5'- CACAGATAATATCCCCTGAC -3'
(R):5'- CCAAGCTCTGAGTCTGAGGATAGC -3'
Posted On 2015-10-21