Incidental Mutation 'R8067:Cbx7'
ID 620073
Institutional Source Beutler Lab
Gene Symbol Cbx7
Ensembl Gene ENSMUSG00000053411
Gene Name chromobox 7
Synonyms D15Ertd417e, 1600014J01Rik
MMRRC Submission 067502-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R8067 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 79800008-79855320 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 79818099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 1 (V1D)
Ref Sequence ENSEMBL: ENSMUSP00000120748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089293] [ENSMUST00000109615] [ENSMUST00000109616] [ENSMUST00000128931] [ENSMUST00000132821] [ENSMUST00000146719] [ENSMUST00000177044]
AlphaFold Q8VDS3
Predicted Effect probably benign
Transcript: ENSMUST00000089293
SMART Domains Protein: ENSMUSP00000086708
Gene: ENSMUSG00000053411

DomainStartEndE-ValueType
CHROMO 10 62 3.12e-18 SMART
low complexity region 68 85 N/A INTRINSIC
low complexity region 190 202 N/A INTRINSIC
PDB:3GS2|D 219 248 2e-12 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000109615
SMART Domains Protein: ENSMUSP00000105244
Gene: ENSMUSG00000053411

DomainStartEndE-ValueType
CHROMO 10 62 3.12e-18 SMART
low complexity region 70 81 N/A INTRINSIC
low complexity region 97 109 N/A INTRINSIC
PDB:3GS2|D 126 155 1e-12 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000109616
SMART Domains Protein: ENSMUSP00000105245
Gene: ENSMUSG00000053411

DomainStartEndE-ValueType
CHROMO 10 62 3.12e-18 SMART
low complexity region 70 81 N/A INTRINSIC
low complexity region 97 109 N/A INTRINSIC
PDB:3GS2|D 126 155 1e-12 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000128931
SMART Domains Protein: ENSMUSP00000118813
Gene: ENSMUSG00000053411

DomainStartEndE-ValueType
low complexity region 16 27 N/A INTRINSIC
low complexity region 77 89 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132821
SMART Domains Protein: ENSMUSP00000118871
Gene: ENSMUSG00000053411

DomainStartEndE-ValueType
low complexity region 16 27 N/A INTRINSIC
low complexity region 43 55 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000146719
AA Change: V1D
SMART Domains Protein: ENSMUSP00000120748
Gene: ENSMUSG00000053411
AA Change: V1D

DomainStartEndE-ValueType
CHROMO 2 84 4.03e-12 SMART
low complexity region 92 103 N/A INTRINSIC
low complexity region 119 131 N/A INTRINSIC
PDB:3GS2|D 148 177 6e-12 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000177044
SMART Domains Protein: ENSMUSP00000135246
Gene: ENSMUSG00000053411

DomainStartEndE-ValueType
CHROMO 10 56 3.71e-2 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (45/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains the CHROMO (CHRomatin Organization MOdifier) domain. The encoded protein is a component of the Polycomb repressive complex 1 (PRC1), and is thought to control the lifespan of several normal human cells. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased body length and develop liver and lung adenomas and carcinomas while mutant embryonic fibriblasts show a higher growth rate and reduced susceptibility to senescence. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik A T 8: 13,608,643 (GRCm39) D145E possibly damaging Het
Adcy7 T C 8: 89,037,697 (GRCm39) L255P probably damaging Het
Cd209c A C 8: 3,995,700 (GRCm39) M34R probably benign Het
Chodl A T 16: 78,743,601 (GRCm39) L229F probably damaging Het
Depdc5 C A 5: 33,053,252 (GRCm39) N197K possibly damaging Het
Dnai1 T A 4: 41,614,258 (GRCm39) D311E probably damaging Het
Dop1a A G 9: 86,400,392 (GRCm39) Y1017C probably benign Het
Dop1b T A 16: 93,562,336 (GRCm39) L927* probably null Het
Dpp10 A G 1: 123,280,389 (GRCm39) S646P probably benign Het
Ebf1 G A 11: 44,511,374 (GRCm39) V90M probably benign Het
Efhd1 C T 1: 87,192,313 (GRCm39) P48S probably benign Het
Fam83b T C 9: 76,398,380 (GRCm39) T908A probably benign Het
Fbxl16 G A 17: 26,036,957 (GRCm39) V313I probably damaging Het
Git2 C T 5: 114,904,579 (GRCm39) M113I probably damaging Het
Gpr87 T A 3: 59,087,308 (GRCm39) I66F probably damaging Het
H60c A C 10: 3,209,338 (GRCm39) L217V unknown Het
Iba57 T C 11: 59,054,086 (GRCm39) probably benign Het
Igkv11-125 C A 6: 67,890,814 (GRCm39) T44N probably benign Het
Itih2 T A 2: 10,128,294 (GRCm39) I136F probably damaging Het
Itpr3 T A 17: 27,329,836 (GRCm39) D1543E probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Mylk A T 16: 34,792,389 (GRCm39) E1570V probably benign Het
N4bp2 T A 5: 65,964,639 (GRCm39) L896H probably damaging Het
Ndc1 T A 4: 107,247,595 (GRCm39) S468T probably benign Het
Ndst3 T C 3: 123,395,094 (GRCm39) N512S probably damaging Het
Or51b6 A G 7: 103,555,610 (GRCm39) probably benign Het
Or5w15 T A 2: 87,568,147 (GRCm39) I174F probably damaging Het
Plekhn1 T C 4: 156,312,697 (GRCm39) I54V possibly damaging Het
Polr3c T C 3: 96,622,968 (GRCm39) E350G probably null Het
Prpf8 T C 11: 75,390,976 (GRCm39) W1342R probably damaging Het
Pum1 T C 4: 130,478,836 (GRCm39) V486A possibly damaging Het
Rin2 T G 2: 145,702,977 (GRCm39) S558A probably damaging Het
Ripk4 A T 16: 97,564,737 (GRCm39) V58D probably damaging Het
Smyd3 A G 1: 179,238,028 (GRCm39) M113T possibly damaging Het
Spock1 A T 13: 57,843,984 (GRCm39) probably null Het
Srgap3 C T 6: 112,716,325 (GRCm39) R625H probably benign Het
Tasor2 C T 13: 3,619,602 (GRCm39) V2210I probably benign Het
Tmed2 T C 5: 124,684,986 (GRCm39) I134T possibly damaging Het
Washc2 T A 6: 116,201,464 (GRCm39) S353R probably damaging Het
Xdh T A 17: 74,207,652 (GRCm39) R902W probably benign Het
Zbtb5 A T 4: 44,994,972 (GRCm39) S137R probably benign Het
Zfp286 A T 11: 62,644,345 (GRCm39) I192K unknown Het
Zfp942 T C 17: 22,149,391 (GRCm39) Y38C probably damaging Het
Zfpm1 T C 8: 123,062,323 (GRCm39) S461P probably benign Het
Other mutations in Cbx7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01019:Cbx7 APN 15 79,814,829 (GRCm39) missense probably damaging 1.00
IGL02601:Cbx7 APN 15 79,807,671 (GRCm39) critical splice donor site probably null
IGL02798:Cbx7 APN 15 79,802,600 (GRCm39) missense probably damaging 1.00
R1372:Cbx7 UTSW 15 79,803,074 (GRCm39) missense probably damaging 1.00
R1373:Cbx7 UTSW 15 79,803,074 (GRCm39) missense probably damaging 1.00
R1985:Cbx7 UTSW 15 79,802,591 (GRCm39) missense probably damaging 1.00
R2240:Cbx7 UTSW 15 79,802,558 (GRCm39) missense probably damaging 1.00
R6371:Cbx7 UTSW 15 79,803,023 (GRCm39) missense possibly damaging 0.83
R7803:Cbx7 UTSW 15 79,818,024 (GRCm39) missense unknown
R8065:Cbx7 UTSW 15 79,818,099 (GRCm39) missense unknown
R9525:Cbx7 UTSW 15 79,814,797 (GRCm39) missense probably damaging 0.98
Z1177:Cbx7 UTSW 15 79,818,085 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AGACCCACTTTTGCCGTCTG -3'
(R):5'- CTTCGCCAGACATAGGTGCTTAG -3'

Sequencing Primer
(F):5'- GCCCTTGGTTTGCTGACCG -3'
(R):5'- CAGACATAGGTGCTTAGAGTTTATTC -3'
Posted On 2020-01-23