Incidental Mutation 'R6406:Cbx1'
ID 516315
Institutional Source Beutler Lab
Gene Symbol Cbx1
Ensembl Gene ENSMUSG00000018666
Gene Name chromobox 1
Synonyms Hp1beta, E430007M08Rik, MOD1, Cbx-rs2, M31, HP1B
MMRRC Submission 044551-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6406 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 96679953-96699466 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 96692364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 84 (K84*)
Ref Sequence ENSEMBL: ENSMUSP00000137834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018810] [ENSMUST00000079702] [ENSMUST00000093943] [ENSMUST00000134585]
AlphaFold P83917
Predicted Effect probably null
Transcript: ENSMUST00000018810
AA Change: K84*
SMART Domains Protein: ENSMUSP00000018810
Gene: ENSMUSG00000018666
AA Change: K84*

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 null
Transcript: ENSMUST00000079702
AA Change: K84*
SMART Domains Protein: ENSMUSP00000078640
Gene: ENSMUSG00000018666
AA Change: K84*

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 probably null
Transcript: ENSMUST00000093943
AA Change: K84*
SMART Domains Protein: ENSMUSP00000091475
Gene: ENSMUSG00000018666
AA Change: K84*

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 probably null
Transcript: ENSMUST00000134585
AA Change: K84*
SMART Domains Protein: ENSMUSP00000137834
Gene: ENSMUSG00000018666
AA Change: K84*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 96% (48/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 C T 17: 45,817,865 (GRCm39) P29L probably benign Het
Acsm1 A G 7: 119,261,484 (GRCm39) N567S probably benign Het
Ahi1 T G 10: 20,852,948 (GRCm39) N505K probably damaging Het
Ank2 T A 3: 126,825,874 (GRCm39) D356V probably damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Bpifb6 C A 2: 153,746,457 (GRCm39) T117K possibly damaging Het
C2cd6 T C 1: 59,097,835 (GRCm39) E418G possibly damaging Het
Cr2 A G 1: 194,852,079 (GRCm39) L90P probably damaging Het
Dclk1 A G 3: 55,387,827 (GRCm39) D91G probably damaging Het
Dock1 C A 7: 134,747,215 (GRCm39) Q1509K probably benign Het
Fzd1 T G 5: 4,806,089 (GRCm39) T498P probably damaging Het
Galnt12 A G 4: 47,122,534 (GRCm39) N271S probably benign Het
Gm12888 A G 4: 121,176,654 (GRCm39) I49T possibly damaging Het
Gria4 A T 9: 4,427,077 (GRCm39) W788R probably damaging Het
Ilf3 C T 9: 21,307,540 (GRCm39) A379V probably damaging Het
Islr2 A G 9: 58,107,263 (GRCm39) V43A probably benign Het
Jag1 T A 2: 136,929,563 (GRCm39) N782I probably damaging Het
Klhl8 T A 5: 104,010,981 (GRCm39) I539F possibly damaging Het
Lama5 A T 2: 179,839,257 (GRCm39) C750* probably null Het
Lrrc37a T A 11: 103,388,361 (GRCm39) T2355S unknown Het
Lrrc8a A G 2: 30,147,103 (GRCm39) H639R possibly damaging Het
Map1a A T 2: 121,131,224 (GRCm39) D442V probably damaging Het
Mier3 T C 13: 111,846,343 (GRCm39) probably null Het
Msantd1 C A 5: 35,080,665 (GRCm39) probably null Het
Ncapd2 C A 6: 125,150,841 (GRCm39) A785S probably benign Het
Ncbp2 CTCGTCTGG C 16: 31,775,159 (GRCm39) probably null Het
Ncbp2 CGTCTGGATG CG 16: 31,775,161 (GRCm39) probably null Het
Ndst4 T C 3: 125,232,150 (GRCm39) S240P probably benign Het
Nek9 T C 12: 85,385,946 (GRCm39) D17G probably damaging Het
Nkx6-1 C T 5: 101,811,677 (GRCm39) A142T unknown Het
Nt5dc1 T C 10: 34,200,404 (GRCm39) H205R probably benign Het
Or5b94 T C 19: 12,652,184 (GRCm39) I205T probably benign Het
Or9g3 T A 2: 85,590,651 (GRCm39) Q23L possibly damaging Het
Pafah1b1 A G 11: 74,573,098 (GRCm39) M322T probably benign Het
Parp2 A G 14: 51,056,934 (GRCm39) N353D probably benign Het
Pdcd6ip T C 9: 113,503,412 (GRCm39) N452S possibly damaging Het
Pkd1l2 A G 8: 117,762,586 (GRCm39) V1397A probably damaging Het
Prkdc T A 16: 15,535,665 (GRCm39) L1675Q probably damaging Het
Ptprt T C 2: 161,395,703 (GRCm39) I1157V probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,133 (GRCm39) probably benign Het
Sele G T 1: 163,878,312 (GRCm39) C217F probably damaging Het
Spats1 T A 17: 45,768,191 (GRCm39) H125L probably damaging Het
Stard3 T C 11: 98,269,595 (GRCm39) V330A probably benign Het
Synj2 T A 17: 6,069,846 (GRCm39) probably benign Het
Thoc1 T A 18: 9,977,963 (GRCm39) F301L probably damaging Het
Thumpd3 G A 6: 113,032,924 (GRCm39) E221K probably damaging Het
Trim61 T C 8: 65,466,377 (GRCm39) T295A possibly damaging Het
Trp53bp1 T C 2: 121,101,093 (GRCm39) Q35R probably damaging Het
Tsnaxip1 C T 8: 106,570,615 (GRCm39) T578I probably benign Het
Other mutations in Cbx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01145:Cbx1 APN 11 96,692,392 (GRCm39) missense probably benign 0.07
IGL02027:Cbx1 APN 11 96,692,315 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- ACTAGGAAAGTCTAGCGATTGG -3'
(R):5'- GTCCAGTATGGTAGTTCGTACTC -3'

Sequencing Primer
(F):5'- CTAGGAAAGTCTAGCGATTGGTTATC -3'
(R):5'- GCCTAGGCTTCTATGCAAGAC -3'
Posted On 2018-05-04