Incidental Mutation 'R1299:Cbx8'
ID 158257
Institutional Source Beutler Lab
Gene Symbol Cbx8
Ensembl Gene ENSMUSG00000025578
Gene Name chromobox 8
Synonyms Pc3, polycomb 3
MMRRC Submission 039365-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1299 (G1)
Quality Score 192
Status Validated
Chromosome 11
Chromosomal Location 118929262-118931739 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 118931676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000026663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026663]
AlphaFold Q9QXV1
PDB Structure Solution Structure of RSGI RUH-055, a Chromo Domain from Mus musculus cDNA [SOLUTION NMR]
Predicted Effect probably null
Transcript: ENSMUST00000026663
AA Change: M1V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000026663
Gene: ENSMUSG00000025578
AA Change: M1V

DomainStartEndE-ValueType
CHROMO 10 62 2.91e-18 SMART
low complexity region 82 90 N/A INTRINSIC
low complexity region 140 153 N/A INTRINSIC
low complexity region 159 176 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128019
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143831
Meta Mutation Damage Score 0.9655 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 100% (38/38)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired MLL-AF9 transformation but are otherwise viable with normal hematopoiesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,244,821 (GRCm39) L2228P possibly damaging Het
Acnat1 T A 4: 49,450,925 (GRCm39) E62V possibly damaging Het
Adam7 A G 14: 68,763,748 (GRCm39) probably benign Het
Ate1 A T 7: 130,106,485 (GRCm39) V292D probably damaging Het
Cdc73 T C 1: 143,575,019 (GRCm39) D58G probably benign Het
Cgnl1 G A 9: 71,628,994 (GRCm39) probably benign Het
Col27a1 G A 4: 63,183,868 (GRCm39) probably benign Het
Fam133b T C 5: 3,604,626 (GRCm39) probably benign Het
Fndc3a A G 14: 72,803,638 (GRCm39) probably benign Het
Golga3 G A 5: 110,352,709 (GRCm39) A867T probably benign Het
Gpr142 A T 11: 114,695,185 (GRCm39) Y50F probably benign Het
Gramd1c A G 16: 43,803,865 (GRCm39) probably benign Het
Gypa G A 8: 81,223,382 (GRCm39) V53I unknown Het
H2-DMb2 T C 17: 34,369,561 (GRCm39) V235A probably benign Het
Igkv10-94 T C 6: 68,681,482 (GRCm39) probably benign Het
Katnip A C 7: 125,451,195 (GRCm39) M1109L probably benign Het
Klhl17 T C 4: 156,315,419 (GRCm39) Y484C probably damaging Het
Ltbp3 T C 19: 5,795,456 (GRCm39) probably benign Het
Mapkbp1 G A 2: 119,845,885 (GRCm39) C412Y probably damaging Het
Mblac2 C A 13: 81,859,845 (GRCm39) C65* probably null Het
Or5b104 T A 19: 13,072,494 (GRCm39) N173Y possibly damaging Het
Or6c217 A G 10: 129,737,946 (GRCm39) I211T probably benign Het
Parn G A 16: 13,482,593 (GRCm39) T85M probably benign Het
Pcdhb22 T C 18: 37,653,643 (GRCm39) S704P probably damaging Het
Prex1 A G 2: 166,427,827 (GRCm39) F942L possibly damaging Het
Prox1 G T 1: 189,879,140 (GRCm39) probably benign Het
Prss55 A T 14: 64,319,147 (GRCm39) I70N probably damaging Het
Slc25a13 C T 6: 6,113,937 (GRCm39) probably null Het
Smarca2 T C 19: 26,749,011 (GRCm39) probably null Het
Smarcc2 C A 10: 128,297,247 (GRCm39) N46K probably damaging Het
Tdpoz4 A T 3: 93,703,769 (GRCm39) Y22F probably benign Het
Tgfbr1 T A 4: 47,396,587 (GRCm39) probably null Het
Xpr1 A C 1: 155,292,949 (GRCm39) I11S probably damaging Het
Zfp354b A C 11: 50,814,297 (GRCm39) S209R probably benign Het
Zfp882 A G 8: 72,667,317 (GRCm39) E88G probably damaging Het
Other mutations in Cbx8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1213:Cbx8 UTSW 11 118,930,359 (GRCm39) splice site probably null
R4497:Cbx8 UTSW 11 118,931,618 (GRCm39) missense probably damaging 1.00
R5282:Cbx8 UTSW 11 118,929,742 (GRCm39) missense probably damaging 0.98
R5695:Cbx8 UTSW 11 118,930,137 (GRCm39) missense probably benign
R6237:Cbx8 UTSW 11 118,931,213 (GRCm39) missense possibly damaging 0.95
R6400:Cbx8 UTSW 11 118,929,694 (GRCm39) nonsense probably null
R6980:Cbx8 UTSW 11 118,930,287 (GRCm39) missense possibly damaging 0.73
R7697:Cbx8 UTSW 11 118,931,637 (GRCm39) nonsense probably null
R8428:Cbx8 UTSW 11 118,929,754 (GRCm39) missense probably damaging 0.97
R9013:Cbx8 UTSW 11 118,929,649 (GRCm39) missense possibly damaging 0.93
R9553:Cbx8 UTSW 11 118,930,964 (GRCm39) missense probably damaging 1.00
Z1176:Cbx8 UTSW 11 118,929,945 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- CACGAGATATTCCATGCGTCCCTG -3'
(R):5'- GCTTTAGCAACGTCGTTAGCAACAC -3'

Sequencing Primer
(F):5'- TGCAGGGCTGCAAGTCTAAG -3'
(R):5'- GGAGAGTATTATGGGCTGTCGA -3'
Posted On 2014-02-18