Incidental Mutation 'IGL01533:Cbx5'
ID89843
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cbx5
Ensembl Gene ENSMUSG00000009575
Gene Namechromobox 5
Synonymsheterochromatin protein 1 alpha, Hp1a, HP1a, Hp1alpha, 2610029O15Rik, HP1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01533
Quality Score
Status
Chromosome15
Chromosomal Location103191544-103239816 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 103205634 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 61 (E61G)
Ref Sequence ENSEMBL: ENSMUSP00000113158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108813] [ENSMUST00000118152] [ENSMUST00000122182]
Predicted Effect probably damaging
Transcript: ENSMUST00000108813
AA Change: E61G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104441
Gene: ENSMUSG00000009575
AA Change: E61G

DomainStartEndE-ValueType
CHROMO 19 71 1.1e-18 SMART
ChSh 115 177 1.42e-30 SMART
CHROMO 120 172 3.6e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118152
AA Change: E61G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113157
Gene: ENSMUSG00000009575
AA Change: E61G

DomainStartEndE-ValueType
CHROMO 19 71 1.1e-18 SMART
ChSh 115 177 1.42e-30 SMART
CHROMO 120 172 3.6e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000122182
AA Change: E61G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113158
Gene: ENSMUSG00000009575
AA Change: E61G

DomainStartEndE-ValueType
CHROMO 19 71 1.1e-18 SMART
ChSh 115 177 1.42e-30 SMART
CHROMO 120 172 3.6e-1 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 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 encoded product is involved in the formation of functional kinetochore through interaction with essential kinetochore proteins. The gene has a pseudogene located on chromosome 3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a mutation of this gene are viable and fertile and exhibit no apparent physical or behavioral abnormality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C A 18: 67,405,418 E757* probably null Het
Arhgap15 T C 2: 44,243,153 V357A probably damaging Het
Asb13 T C 13: 3,642,164 V48A probably benign Het
Bbs7 T C 3: 36,610,235 R74G possibly damaging Het
Capn11 T C 17: 45,632,904 H568R probably benign Het
Ccdc158 T C 5: 92,609,956 probably null Het
Col14a1 C A 15: 55,420,840 N832K unknown Het
Cyp2a4 A T 7: 26,308,544 K125N probably damaging Het
Dhx16 T C 17: 35,882,047 L215P probably damaging Het
Dtx4 T C 19: 12,478,215 M480V possibly damaging Het
Edaradd A G 13: 12,478,582 probably benign Het
Galnt13 T A 2: 54,880,132 M312K probably damaging Het
Gcdh T A 8: 84,889,362 R337W probably damaging Het
Gm28557 A T 13: 67,071,332 C109* probably null Het
Gpr22 C T 12: 31,708,710 probably benign Het
Gria4 T G 9: 4,502,395 L379F probably damaging Het
Gxylt2 T C 6: 100,783,137 L211P probably damaging Het
Igsf10 T A 3: 59,319,230 I2341F probably damaging Het
Macf1 T C 4: 123,473,873 D2365G probably damaging Het
Morc2b A G 17: 33,135,721 probably benign Het
Ncoa3 T C 2: 166,055,025 S579P probably benign Het
Nlgn1 T C 3: 25,436,363 N400S possibly damaging Het
Olfr1141 C A 2: 87,753,068 R308S probably benign Het
Olfr146 C T 9: 39,018,801 A247T probably damaging Het
Pi4ka A G 16: 17,308,201 S1102P probably benign Het
Polr1e A G 4: 45,019,328 Y59C probably damaging Het
Prex2 C T 1: 11,186,741 Q1226* probably null Het
Rab12 A T 17: 66,497,435 I176K probably damaging Het
Ryr2 A T 13: 11,721,790 N2250K probably damaging Het
Sbf1 T C 15: 89,288,716 T1865A probably damaging Het
Sema6b G A 17: 56,129,499 probably benign Het
Smarcb1 C T 10: 75,916,768 probably null Het
Sos1 A G 17: 80,415,082 L845S probably damaging Het
Stat4 T A 1: 52,098,419 N456K probably damaging Het
Tex264 A G 9: 106,673,599 I133T probably benign Het
Thoc1 T C 18: 9,962,376 V87A probably benign Het
Tmem131 C T 1: 36,818,722 D778N probably damaging Het
Tspan14 A G 14: 40,916,819 I88T probably benign Het
Ttn A G 2: 76,951,941 S984P probably damaging Het
Ttn C A 2: 76,732,574 V28679L possibly damaging Het
Vangl1 T C 3: 102,163,351 E423G possibly damaging Het
Other mutations in Cbx5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02059:Cbx5 APN 15 103199765 missense probably damaging 0.97
IGL02647:Cbx5 APN 15 103200903 critical splice acceptor site probably null
IGL03143:Cbx5 APN 15 103213105 missense probably damaging 1.00
R0201:Cbx5 UTSW 15 103199700 missense probably damaging 0.98
R1411:Cbx5 UTSW 15 103213120 missense probably benign
R1761:Cbx5 UTSW 15 103213180 missense possibly damaging 0.88
R1785:Cbx5 UTSW 15 103213124 missense probably null 0.98
Posted On2013-12-03