Incidental Mutation 'IGL02601:Cbx7'
ID 300103
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cbx7
Ensembl Gene ENSMUSG00000053411
Gene Name chromobox 7
Synonyms D15Ertd417e, 1600014J01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # IGL02601
Quality Score
Status
Chromosome 15
Chromosomal Location 79800008-79855320 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 79807671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
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 null
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 null
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 null
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 null
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 probably null
Transcript: ENSMUST00000146719
SMART Domains Protein: ENSMUSP00000120748
Gene: ENSMUSG00000053411

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 noncoding transcript
Transcript: ENSMUST00000176639
Predicted Effect probably benign
Transcript: ENSMUST00000177044
SMART Domains Protein: ENSMUSP00000135246
Gene: ENSMUSG00000053411

DomainStartEndE-ValueType
CHROMO 10 56 3.71e-2 SMART
Coding Region Coverage
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap1 C T 5: 139,293,541 (GRCm39) V57M probably damaging Het
Agap3 A G 5: 24,688,369 (GRCm39) K23E possibly damaging Het
Anln A T 9: 22,249,331 (GRCm39) I132K probably damaging Het
Anxa4 T C 6: 86,737,683 (GRCm39) T13A probably benign Het
Bdp1 A T 13: 100,235,022 (GRCm39) Y191N possibly damaging Het
Carm1 G A 9: 21,498,204 (GRCm39) V403M probably damaging Het
Chd8 A C 14: 52,451,757 (GRCm39) N16K possibly damaging Het
Crtc3 A T 7: 80,242,315 (GRCm39) D499E probably damaging Het
Cul3 A G 1: 80,249,432 (GRCm39) probably benign Het
D430041D05Rik T C 2: 104,060,631 (GRCm39) D1421G probably damaging Het
Fgb T A 3: 82,952,367 (GRCm39) E167D probably benign Het
Gimap6 T A 6: 48,679,409 (GRCm39) Q209L probably damaging Het
Gm3604 G A 13: 62,517,990 (GRCm39) H123Y possibly damaging Het
Gm5884 A T 6: 128,622,749 (GRCm39) noncoding transcript Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Obox3 T C 7: 15,360,848 (GRCm39) E97G probably damaging Het
Obsl1 T C 1: 75,466,264 (GRCm39) H1488R probably benign Het
Or4e1 A T 14: 52,700,802 (GRCm39) Y221* probably null Het
Or6c75 A G 10: 129,337,723 (GRCm39) *323W probably null Het
Pak5 T A 2: 135,958,855 (GRCm39) K78* probably null Het
Paqr9 A G 9: 95,442,877 (GRCm39) N289S probably damaging Het
Pde3b G A 7: 114,122,577 (GRCm39) R715H probably damaging Het
Pglyrp2 T C 17: 32,634,835 (GRCm39) H509R probably benign Het
Pik3ap1 A C 19: 41,290,881 (GRCm39) N550K probably benign Het
Pon3 A G 6: 5,221,671 (GRCm39) Y320H probably damaging Het
Ptprt T A 2: 161,608,227 (GRCm39) T690S probably benign Het
Ptprz1 T A 6: 23,000,686 (GRCm39) D925E probably benign Het
Rag1 T C 2: 101,473,018 (GRCm39) D708G probably damaging Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Rbmy1b A G Y: 3,774,885 (GRCm39) I27M probably benign Het
Rfx2 G A 17: 57,092,354 (GRCm39) H315Y possibly damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sis T C 3: 72,820,543 (GRCm39) N1407S probably benign Het
Slco1c1 T A 6: 141,490,555 (GRCm39) L261Q probably damaging Het
Sox30 T G 11: 45,875,589 (GRCm39) L447R possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Ssu72 A G 4: 155,789,882 (GRCm39) N15S possibly damaging Het
Stat4 C T 1: 52,137,574 (GRCm39) S455F probably damaging Het
Stk4 T A 2: 163,928,462 (GRCm39) L97Q probably damaging Het
Sulf1 A T 1: 12,856,869 (GRCm39) N40I probably damaging Het
Sympk G A 7: 18,782,794 (GRCm39) V877I probably benign Het
Taar7b A T 10: 23,876,204 (GRCm39) H123L probably damaging Het
Teddm1b A G 1: 153,750,362 (GRCm39) Y57C probably damaging Het
Tep1 A T 14: 51,070,935 (GRCm39) C2121* probably null Het
Tnfsf11 T A 14: 78,537,385 (GRCm39) R93* probably null Het
Tspan12 A C 6: 21,835,378 (GRCm39) probably benign Het
Tyrp1 A G 4: 80,759,012 (GRCm39) E295G probably null Het
Vps4a T C 8: 107,769,693 (GRCm39) I334T probably damaging Het
Zfhx3 T C 8: 109,583,462 (GRCm39) S1110P probably damaging Het
Zfp507 A G 7: 35,491,136 (GRCm39) S716P probably damaging Het
Other mutations in Cbx7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01019:Cbx7 APN 15 79,814,829 (GRCm39) missense probably damaging 1.00
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
R8067: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
Posted On 2015-04-16