Incidental Mutation 'IGL02027:Cbx1'
ID 184217
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cbx1
Ensembl Gene ENSMUSG00000018666
Gene Name chromobox 1
Synonyms Hp1beta, E430007M08Rik, MOD1, Cbx-rs2, M31, HP1B
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02027
Quality Score
Status
Chromosome 11
Chromosomal Location 96679953-96699466 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 96692315 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 67 (F67L)
Ref Sequence ENSEMBL: ENSMUSP00000078640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018810] [ENSMUST00000079702] [ENSMUST00000093943] [ENSMUST00000134585]
AlphaFold P83917
Predicted Effect possibly damaging
Transcript: ENSMUST00000018810
AA Change: F67L

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000018810
Gene: ENSMUSG00000018666
AA Change: F67L

DomainStartEndE-ValueType
CHROMO 20 72 4.55e-20 SMART
low complexity region 86 109 N/A INTRINSIC
Pfam:Chromo_shadow 115 138 8.2e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000079702
AA Change: F67L

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000078640
Gene: ENSMUSG00000018666
AA Change: F67L

DomainStartEndE-ValueType
CHROMO 20 72 4.55e-20 SMART
low complexity region 86 109 N/A INTRINSIC
Pfam:Chromo_shadow 115 147 5e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000093943
AA Change: F67L

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000091475
Gene: ENSMUSG00000018666
AA Change: F67L

DomainStartEndE-ValueType
CHROMO 20 72 4.55e-20 SMART
low complexity region 86 109 N/A INTRINSIC
ChSh 111 173 4.83e-33 SMART
CHROMO 116 168 1.08e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000134585
AA Change: F67L

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000137834
Gene: ENSMUSG00000018666
AA Change: F67L

DomainStartEndE-ValueType
CHROMO 20 72 4.55e-20 SMART
low complexity region 86 109 N/A INTRINSIC
Pfam:Chromo_shadow 115 138 8.2e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141257
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 highly conserved nonhistone protein, which is a member of the heterochromatin protein family . The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The protein may play an important role in the epigenetic control of chromatin structure and gene expression. Several related pseudogenes are located on chromosomes 1, 3, and X. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: An uncharacterized gene trap insertion does not result in an obvious phenotype during the observation period early in life, although abnormalities may still develop at older age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adipor1 A G 1: 134,358,923 (GRCm39) T312A probably benign Het
Begain T G 12: 109,000,235 (GRCm39) K384Q possibly damaging Het
C2cd6 T C 1: 59,099,763 (GRCm39) I393V probably benign Het
Catsperz A G 19: 6,902,664 (GRCm39) V5A probably benign Het
Ccn2 A G 10: 24,472,307 (GRCm39) S117G probably damaging Het
Ccn3 T C 15: 54,611,330 (GRCm39) V155A probably damaging Het
Cerkl T C 2: 79,171,630 (GRCm39) probably benign Het
Cubn G T 2: 13,292,405 (GRCm39) D3259E probably damaging Het
Cyp2u1 A G 3: 131,091,600 (GRCm39) Y307H probably damaging Het
Dcaf6 A C 1: 165,251,910 (GRCm39) D71E probably damaging Het
Dclk3 A T 9: 111,296,911 (GRCm39) K152* probably null Het
Fcgbp G A 7: 27,774,629 (GRCm39) D68N probably damaging Het
Gm6576 A G 15: 27,025,952 (GRCm39) noncoding transcript Het
Has2 T C 15: 56,531,567 (GRCm39) T383A probably damaging Het
Htr1f T A 16: 64,746,684 (GRCm39) K203* probably null Het
Il36g A T 2: 24,082,797 (GRCm39) I191L probably benign Het
Iqgap3 T C 3: 87,994,649 (GRCm39) I116T possibly damaging Het
Itga1 C T 13: 115,126,591 (GRCm39) probably null Het
Kif5b T C 18: 6,209,089 (GRCm39) D891G possibly damaging Het
Krt74 T C 15: 101,665,229 (GRCm39) noncoding transcript Het
Lama3 A G 18: 12,649,570 (GRCm39) K1776E probably damaging Het
Lats1 T C 10: 7,588,712 (GRCm39) S1110P probably benign Het
Lipo3 T A 19: 33,557,919 (GRCm39) K158* probably null Het
Lrrc9 T A 12: 72,517,108 (GRCm39) probably benign Het
Met A G 6: 17,563,726 (GRCm39) probably benign Het
Mmp13 A G 9: 7,272,955 (GRCm39) Y105C probably damaging Het
Mtus1 T C 8: 41,446,638 (GRCm39) E1151G probably damaging Het
Nptx1 T C 11: 119,435,422 (GRCm39) D298G possibly damaging Het
Odad4 C T 11: 100,460,728 (GRCm39) T495M probably damaging Het
Pdlim1 T C 19: 40,231,910 (GRCm39) N156S probably benign Het
Pdzk1 A G 3: 96,761,989 (GRCm39) probably benign Het
Pex5 A G 6: 124,375,847 (GRCm39) S448P probably benign Het
Polr3e G T 7: 120,530,186 (GRCm39) R124L probably damaging Het
Ppp2r2c C T 5: 37,109,816 (GRCm39) R392C probably damaging Het
Prpf4b T C 13: 35,073,554 (GRCm39) I543T probably benign Het
Prr27 A G 5: 87,991,302 (GRCm39) S305G possibly damaging Het
Repin1 A G 6: 48,573,407 (GRCm39) H56R probably damaging Het
Ryr2 A T 13: 11,611,998 (GRCm39) L408H probably damaging Het
Sbf2 T A 7: 110,060,348 (GRCm39) Q205H probably damaging Het
Sgo2b G A 8: 64,379,863 (GRCm39) P990S probably benign Het
Slc33a1 G T 3: 63,855,562 (GRCm39) P361Q probably damaging Het
Tmem98 T C 11: 80,706,483 (GRCm39) probably benign Het
Vmn1r16 T C 6: 57,300,044 (GRCm39) T193A possibly damaging Het
Vmn1r5 T A 6: 56,962,640 (GRCm39) I105K probably damaging Het
Zfp473 A T 7: 44,387,462 (GRCm39) probably benign Het
Other mutations in Cbx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01145:Cbx1 APN 11 96,692,392 (GRCm39) missense probably benign 0.07
IGL03228:Cbx1 APN 11 96,691,631 (GRCm39) utr 5 prime probably benign
R1868:Cbx1 UTSW 11 96,693,554 (GRCm39) missense probably benign 0.18
R6406:Cbx1 UTSW 11 96,692,364 (GRCm39) nonsense probably null
R7696:Cbx1 UTSW 11 96,697,468 (GRCm39) missense probably damaging 0.99
R8806:Cbx1 UTSW 11 96,692,383 (GRCm39) missense possibly damaging 0.68
Posted On 2014-05-07