Incidental Mutation 'IGL01019:Cbx7'
ID54005
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cbx7
Ensembl Gene ENSMUSG00000053411
Gene Namechromobox 7
SynonymsD15Ertd417e, 1600014J01Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.150) question?
Stock #IGL01019
Quality Score
Status
Chromosome15
Chromosomal Location79915807-79971119 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 79930628 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 24 (G24D)
Ref Sequence ENSEMBL: ENSMUSP00000135246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089293] [ENSMUST00000109615] [ENSMUST00000109616] [ENSMUST00000128931] [ENSMUST00000132821] [ENSMUST00000146719] [ENSMUST00000177044]
Predicted Effect probably damaging
Transcript: ENSMUST00000089293
AA Change: G24D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086708
Gene: ENSMUSG00000053411
AA Change: G24D

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 damaging
Transcript: ENSMUST00000109615
AA Change: G24D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105244
Gene: ENSMUSG00000053411
AA Change: G24D

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 damaging
Transcript: ENSMUST00000109616
AA Change: G24D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105245
Gene: ENSMUSG00000053411
AA Change: G24D

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 possibly damaging
Transcript: ENSMUST00000146719
AA Change: G46D

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120748
Gene: ENSMUSG00000053411
AA Change: G46D

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 damaging
Transcript: ENSMUST00000177044
AA Change: G24D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135246
Gene: ENSMUSG00000053411
AA Change: G24D

DomainStartEndE-ValueType
CHROMO 10 56 3.71e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177061
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
4932438A13Rik G T 3: 37,006,984 probably null Het
9930022D16Rik T C 11: 109,417,911 probably benign Het
Aatk T C 11: 120,012,275 S375G probably benign Het
Abcg8 T C 17: 84,691,995 M173T probably benign Het
B3galt2 A C 1: 143,646,757 R210S probably benign Het
Capn5 C T 7: 98,135,764 A168T probably damaging Het
Ccdc7a A T 8: 129,061,618 S77T probably benign Het
Cd200r2 T A 16: 44,909,469 probably benign Het
Cdh11 T C 8: 102,679,745 H32R probably benign Het
Chdh A T 14: 30,031,332 N66I probably benign Het
Clca3a2 G A 3: 144,813,627 Q263* probably null Het
Dcc T C 18: 71,809,090 I319V probably benign Het
Depdc5 G T 5: 32,893,401 M170I probably damaging Het
Dopey2 T A 16: 93,810,229 L2140Q probably benign Het
Frem3 G A 8: 80,615,134 G1352E probably benign Het
Fsd1l T A 4: 53,694,742 C389S probably damaging Het
Grin2c C T 11: 115,258,110 A221T possibly damaging Het
Gstz1 C A 12: 87,163,801 P153T probably damaging Het
Itgb2 T C 10: 77,542,403 S22P possibly damaging Het
Krt87 G T 15: 101,438,431 Q114K possibly damaging Het
Krtap5-4 A C 7: 142,303,910 S106R unknown Het
Lats1 T C 10: 7,705,671 V740A probably damaging Het
Mcm9 C A 10: 53,629,945 G78C probably damaging Het
Mn1 G A 5: 111,421,547 E1128K possibly damaging Het
Myo1f G A 17: 33,593,003 R592H possibly damaging Het
Nfat5 G T 8: 107,367,514 A277S probably damaging Het
Nfkbia T A 12: 55,490,542 Y254F probably damaging Het
Nr3c2 A T 8: 76,909,214 N315Y probably damaging Het
Otof T C 5: 30,405,216 M258V probably benign Het
Panx3 C T 9: 37,661,471 C261Y probably damaging Het
Pdia2 C A 17: 26,198,922 G38W probably damaging Het
Psg19 G T 7: 18,794,046 Y257* probably null Het
Ptpre A T 7: 135,678,325 K586* probably null Het
Reps1 A G 10: 18,124,895 R752G probably damaging Het
Rpgrip1 T A 14: 52,131,176 D277E possibly damaging Het
Rpl21-ps6 A G 17: 55,915,671 noncoding transcript Het
Serpinf2 T A 11: 75,436,507 E198V possibly damaging Het
Sh3tc1 A G 5: 35,703,375 L1046P probably damaging Het
Snw1 T C 12: 87,450,941 E426G probably benign Het
Sord T A 2: 122,264,083 N317K probably benign Het
Taar3 A T 10: 23,950,432 D292V probably damaging Het
Tdrd3 C A 14: 87,472,182 T94K probably damaging Het
Ttn C A 2: 76,856,821 E736* probably null Het
Usp32 A G 11: 85,039,265 V562A probably damaging Het
Vmn1r169 T G 7: 23,577,186 M1R probably null Het
Vmn2r3 C T 3: 64,259,883 C609Y probably damaging Het
Vmn2r69 T C 7: 85,406,531 T800A probably benign Het
Vmn2r72 G A 7: 85,738,334 T674I probably benign Het
Zfp160 T A 17: 21,020,826 M52K possibly damaging Het
Zfp607a T A 7: 27,878,617 C371S probably damaging Het
Other mutations in Cbx7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02601:Cbx7 APN 15 79923470 critical splice donor site probably null
IGL02798:Cbx7 APN 15 79918399 missense probably damaging 1.00
R1372:Cbx7 UTSW 15 79918873 missense probably damaging 1.00
R1373:Cbx7 UTSW 15 79918873 missense probably damaging 1.00
R1985:Cbx7 UTSW 15 79918390 missense probably damaging 1.00
R2240:Cbx7 UTSW 15 79918357 missense probably damaging 1.00
R6371:Cbx7 UTSW 15 79918822 missense possibly damaging 0.83
Posted On2013-06-28