Incidental Mutation 'R1411:Cbx5'
ID 200829
Institutional Source Beutler Lab
Gene Symbol Cbx5
Ensembl Gene ENSMUSG00000009575
Gene Name chromobox 5
Synonyms HP1a, 2610029O15Rik, HP1, Hp1a, heterochromatin protein 1 alpha, Hp1alpha
MMRRC Submission 039467-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1411 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 103099971-103148243 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103121547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 30 (M30K)
Ref Sequence ENSEMBL: ENSMUSP00000120837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108813] [ENSMUST00000118152] [ENSMUST00000122182] [ENSMUST00000127191]
AlphaFold Q61686
Predicted Effect probably benign
Transcript: ENSMUST00000108813
AA Change: M30K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104441
Gene: ENSMUSG00000009575
AA Change: M30K

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 benign
Transcript: ENSMUST00000118152
AA Change: M30K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113157
Gene: ENSMUSG00000009575
AA Change: M30K

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 benign
Transcript: ENSMUST00000122182
AA Change: M30K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113158
Gene: ENSMUSG00000009575
AA Change: M30K

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 benign
Transcript: ENSMUST00000127191
AA Change: M30K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
Validation Efficiency 100% (46/46)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 T A 8: 71,914,374 (GRCm39) I85F probably damaging Het
Acp4 A G 7: 43,906,267 (GRCm39) probably benign Het
Baz1b T C 5: 135,259,177 (GRCm39) F1080L possibly damaging Het
Cdc73 A G 1: 143,485,252 (GRCm39) probably benign Het
Cdcp1 A T 9: 123,019,177 (GRCm39) L34Q probably damaging Het
Chd8 C T 14: 52,462,103 (GRCm39) V738I probably benign Het
Cpeb2 T G 5: 43,391,113 (GRCm39) probably benign Het
Cyp2c67 T A 19: 39,627,035 (GRCm39) D265V probably damaging Het
Cyp2j11 A G 4: 96,233,453 (GRCm39) I81T probably benign Het
Dbx2 T C 15: 95,530,262 (GRCm39) E235G probably damaging Het
Dgkq C A 5: 108,798,228 (GRCm39) V677F probably damaging Het
Ercc5 A G 1: 44,217,441 (GRCm39) N928S probably damaging Het
Flt1 C T 5: 147,517,126 (GRCm39) V1054M probably damaging Het
Flywch1 T C 17: 23,974,798 (GRCm39) D614G probably damaging Het
Frmd3 T C 4: 74,071,858 (GRCm39) F247L probably damaging Het
Gm1527 A G 3: 28,968,632 (GRCm39) N228S probably benign Het
Gpld1 T A 13: 25,146,791 (GRCm39) L251Q probably damaging Het
Gvin-ps3 C T 7: 105,682,686 (GRCm39) A190T probably benign Het
Gzma C T 13: 113,232,742 (GRCm39) V117I probably benign Het
Hydin C A 8: 111,301,663 (GRCm39) T3798K probably benign Het
Il1rapl1 T A X: 85,790,904 (GRCm39) S679C possibly damaging Het
Lrrc8c G A 5: 105,756,045 (GRCm39) A607T probably damaging Het
Ltbp1 A G 17: 75,532,280 (GRCm39) Q118R possibly damaging Het
Mfsd4b4 A T 10: 39,768,136 (GRCm39) M319K probably damaging Het
Mroh2b A C 15: 4,947,799 (GRCm39) H538P probably damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Nup188 A G 2: 30,233,807 (GRCm39) T1733A probably benign Het
Nup58 A T 14: 60,482,119 (GRCm39) probably benign Het
Ofcc1 A G 13: 40,296,263 (GRCm39) S524P probably benign Het
Or6x1 C T 9: 40,098,435 (GRCm39) T8I possibly damaging Het
Padi4 C T 4: 140,479,914 (GRCm39) S413N probably damaging Het
Pdzrn4 A G 15: 92,668,894 (GRCm39) *1015W probably null Het
Pkhd1 G A 1: 20,444,120 (GRCm39) P2314L probably damaging Het
Serpinb9c C G 13: 33,335,817 (GRCm39) V212L probably benign Het
Slc25a23 A G 17: 57,366,622 (GRCm39) F18L probably damaging Het
Smarca4 C A 9: 21,570,251 (GRCm39) N751K probably damaging Het
Tfip11 G T 5: 112,480,899 (GRCm39) V292L probably benign Het
Tnrc18 T C 5: 142,751,702 (GRCm39) K1201R unknown Het
Vmn1r199 T C 13: 22,567,671 (GRCm39) F322L probably benign Het
Vmn1r201 T C 13: 22,658,849 (GRCm39) V21A probably benign Het
Vmn2r108 A T 17: 20,683,107 (GRCm39) I699K probably damaging Het
Vmn2r117 T C 17: 23,679,527 (GRCm39) N566D probably damaging Het
Wdr12 A T 1: 60,127,231 (GRCm39) D141E probably benign Het
Zfp974 A G 7: 27,610,634 (GRCm39) S364P probably benign Het
Other mutations in Cbx5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01533:Cbx5 APN 15 103,114,061 (GRCm39) missense probably damaging 0.99
IGL02059:Cbx5 APN 15 103,108,192 (GRCm39) missense probably damaging 0.97
IGL02647:Cbx5 APN 15 103,109,330 (GRCm39) critical splice acceptor site probably null
IGL03143:Cbx5 APN 15 103,121,532 (GRCm39) missense probably damaging 1.00
R0201:Cbx5 UTSW 15 103,108,127 (GRCm39) missense probably damaging 0.98
R1761:Cbx5 UTSW 15 103,121,607 (GRCm39) missense possibly damaging 0.88
R1785:Cbx5 UTSW 15 103,121,551 (GRCm39) missense probably null 0.98
R7484:Cbx5 UTSW 15 103,114,256 (GRCm39) splice site probably null
R8112:Cbx5 UTSW 15 103,108,171 (GRCm39) missense probably benign 0.32
R9022:Cbx5 UTSW 15 103,121,586 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GCTCCCAAGACTGTGTTCCCAAC -3'
(R):5'- ACAGAAATGGTCAGGAATAACGCCC -3'

Sequencing Primer
(F):5'- caagactgtgttcccaaccaATTC -3'
(R):5'- CTCTGTTCCATCAAGAAGTGACG -3'
Posted On 2014-05-23