Incidental Mutation 'R1868:Cbx1'
ID 208979
Institutional Source Beutler Lab
Gene Symbol Cbx1
Ensembl Gene ENSMUSG00000018666
Gene Name chromobox 1
Synonyms Hp1beta, E430007M08Rik, MOD1, Cbx-rs2, M31, HP1B
MMRRC Submission 039890-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1868 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 96679953-96699466 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96693554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 107 (S107P)
Ref Sequence ENSEMBL: ENSMUSP00000078640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018810] [ENSMUST00000079702] [ENSMUST00000093943] [ENSMUST00000134585]
AlphaFold P83917
Predicted Effect probably benign
Transcript: ENSMUST00000018810
AA Change: S107P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000018810
Gene: ENSMUSG00000018666
AA Change: S107P

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 benign
Transcript: ENSMUST00000079702
AA Change: S107P

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000078640
Gene: ENSMUSG00000018666
AA Change: S107P

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 benign
Transcript: ENSMUST00000093943
AA Change: S107P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000091475
Gene: ENSMUSG00000018666
AA Change: S107P

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 benign
Transcript: ENSMUST00000134585
AA Change: S107P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137834
Gene: ENSMUSG00000018666
AA Change: S107P

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 0.0589 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
Validation Efficiency 97% (115/118)
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: 115 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik A T 5: 66,157,560 (GRCm39) M1K probably null Het
A630073D07Rik C T 6: 132,603,457 (GRCm39) E100K unknown Het
Abcc3 T G 11: 94,254,889 (GRCm39) D638A probably benign Het
Acadm T C 3: 153,635,889 (GRCm39) I272V probably benign Het
Adam2 G A 14: 66,315,107 (GRCm39) T22I probably damaging Het
Aldh3b1 G A 19: 3,971,271 (GRCm39) probably benign Het
Arfgef3 A T 10: 18,537,135 (GRCm39) I182K probably benign Het
Arhgef17 A G 7: 100,528,184 (GRCm39) S677P probably benign Het
Atp2b1 T C 10: 98,832,750 (GRCm39) V417A probably damaging Het
Brca1 T A 11: 101,388,839 (GRCm39) H1675L probably benign Het
Brd10 A T 19: 29,720,998 (GRCm39) S743T probably damaging Het
Btd G T 14: 31,389,266 (GRCm39) G329V probably benign Het
Capsl T A 15: 9,461,916 (GRCm39) L104* probably null Het
Cd207 G T 6: 83,648,683 (GRCm39) Y326* probably null Het
Cenpp T C 13: 49,794,759 (GRCm39) D136G probably damaging Het
Chsy3 A G 18: 59,309,560 (GRCm39) probably null Het
Cntrl T A 2: 35,019,827 (GRCm39) H551Q probably benign Het
Col14a1 T A 15: 55,310,858 (GRCm39) probably benign Het
Cybrd1 T A 2: 70,967,978 (GRCm39) F183Y possibly damaging Het
D5Ertd579e G A 5: 36,773,771 (GRCm39) S208L probably damaging Het
Dlg2 A T 7: 92,036,160 (GRCm39) K719* probably null Het
Dppa1 A T 11: 46,516,393 (GRCm39) probably null Het
Dse A G 10: 34,029,284 (GRCm39) V602A possibly damaging Het
Elapor2 T A 5: 9,529,251 (GRCm39) I1028K probably damaging Het
Elmo1 C T 13: 20,773,823 (GRCm39) A611V possibly damaging Het
Ets2 T C 16: 95,516,118 (GRCm39) S233P probably benign Het
Fchsd2 G A 7: 100,899,645 (GRCm39) probably benign Het
Fhip2a T C 19: 57,374,737 (GRCm39) I704T possibly damaging Het
Fkbp4 T C 6: 128,409,453 (GRCm39) R402G probably benign Het
G2e3 T A 12: 51,400,412 (GRCm39) D21E probably benign Het
Gask1a A G 9: 121,794,493 (GRCm39) T216A possibly damaging Het
Gck A T 11: 5,852,165 (GRCm39) N391K probably damaging Het
Gm11077 T A 6: 140,675,017 (GRCm39) I3N unknown Het
Gm6793 T C 8: 112,741,088 (GRCm39) M185V probably benign Het
Gucy2d T A 7: 98,103,268 (GRCm39) L504H probably damaging Het
Hat1 T A 2: 71,251,627 (GRCm39) Y225* probably null Het
Iars2 A T 1: 185,050,765 (GRCm39) D441E probably benign Het
Ido2 C A 8: 25,043,776 (GRCm39) M92I possibly damaging Het
Ifne T C 4: 88,797,908 (GRCm39) E170G probably damaging Het
Ints8 C A 4: 11,241,684 (GRCm39) C253F probably damaging Het
Intu G T 3: 40,618,765 (GRCm39) G257V probably damaging Het
Jakmip3 A G 7: 138,609,316 (GRCm39) K140R probably benign Het
Kcnip3 T C 2: 127,301,263 (GRCm39) E237G probably damaging Het
Ksr2 A C 5: 117,643,594 (GRCm39) E121A probably benign Het
Lars1 T A 18: 42,347,902 (GRCm39) I974F probably benign Het
Lce1b A G 3: 92,563,318 (GRCm39) S72P unknown Het
Lhfpl4 T A 6: 113,153,394 (GRCm39) D125V probably benign Het
Luc7l G A 17: 26,499,030 (GRCm39) probably benign Het
Mei1 T C 15: 82,009,154 (GRCm39) L833P probably damaging Het
Mier2 A G 10: 79,384,664 (GRCm39) V150A probably damaging Het
Muc4 C T 16: 32,576,715 (GRCm39) R2072C unknown Het
Myh3 A G 11: 66,975,852 (GRCm39) K295E probably benign Het
Ndufaf5 A G 2: 140,023,509 (GRCm39) I115V probably benign Het
Neb T C 2: 52,216,756 (GRCm39) K140E probably damaging Het
Niban1 A G 1: 151,517,302 (GRCm39) S104G possibly damaging Het
Npas2 A G 1: 39,339,759 (GRCm39) D103G probably benign Het
Ntrk3 A T 7: 77,842,352 (GRCm39) H825Q possibly damaging Het
Nup62 T A 7: 44,478,472 (GRCm39) S162R possibly damaging Het
Or4c108 T C 2: 88,804,128 (GRCm39) T36A possibly damaging Het
Or5g23 T A 2: 85,438,409 (GRCm39) I282F probably damaging Het
Or5t7 G A 2: 86,507,629 (GRCm39) T16I possibly damaging Het
Or8c8 A G 9: 38,164,986 (GRCm39) E91G probably damaging Het
Orc4 A G 2: 48,800,305 (GRCm39) M281T probably benign Het
Osbpl5 C A 7: 143,269,510 (GRCm39) R22L probably damaging Het
Otos A G 1: 92,572,185 (GRCm39) F47S probably damaging Het
Parp11 A G 6: 127,447,740 (GRCm39) T25A probably damaging Het
Pcdhb9 A C 18: 37,535,137 (GRCm39) D377A probably damaging Het
Pdgfra C T 5: 75,331,534 (GRCm39) S348L probably benign Het
Pdlim5 C A 3: 142,012,060 (GRCm39) probably null Het
Peg12 T C 7: 62,113,416 (GRCm39) H227R probably benign Het
Piezo2 T C 18: 63,152,415 (GRCm39) E2559G probably damaging Het
Pnisr C T 4: 21,874,086 (GRCm39) probably benign Het
Ppa2 A T 3: 133,053,858 (GRCm39) I183F probably damaging Het
Pramel48 T A 5: 95,630,758 (GRCm39) Y212N probably benign Het
Prl2a1 T C 13: 27,988,923 (GRCm39) L16P probably damaging Het
Rai14 C A 15: 10,633,314 (GRCm39) Q25H probably damaging Het
Rapgef6 TG TGG 11: 54,437,223 (GRCm39) probably null Het
Rbm34 C A 8: 127,697,631 (GRCm39) A27S probably benign Het
Rchy1 T C 5: 92,099,762 (GRCm39) D192G probably damaging Het
Rexo1 T C 10: 80,378,754 (GRCm39) D1094G probably damaging Het
Rtl1 T A 12: 109,556,970 (GRCm39) D1623V probably damaging Het
Ryr2 C T 13: 11,746,586 (GRCm39) E1989K probably benign Het
Sema6c A G 3: 95,078,124 (GRCm39) E500G probably damaging Het
Slc13a1 T A 6: 24,117,999 (GRCm39) Y246F probably damaging Het
Slc39a9 C T 12: 80,726,297 (GRCm39) L249F probably damaging Het
Slc6a21 C T 7: 44,937,252 (GRCm39) P261S probably benign Het
Slco2b1 C T 7: 99,335,243 (GRCm39) C179Y probably damaging Het
Sox6 T C 7: 115,258,773 (GRCm39) N252S possibly damaging Het
Spr-ps1 C T 6: 85,132,885 (GRCm39) noncoding transcript Het
Sptbn1 C A 11: 30,064,781 (GRCm39) R1906L possibly damaging Het
Stac2 T C 11: 97,943,771 (GRCm39) D13G probably benign Het
Stat5a G T 11: 100,764,955 (GRCm39) R226L probably damaging Het
Suz12 A G 11: 79,904,425 (GRCm39) probably null Het
Tas2r144 C A 6: 42,192,936 (GRCm39) H225Q probably benign Het
Tdo2 T A 3: 81,867,853 (GRCm39) M331L probably benign Het
Tesk1 T C 4: 43,447,201 (GRCm39) W530R probably damaging Het
Tlr6 T C 5: 65,112,172 (GRCm39) N245S probably benign Het
Tnfrsf11a G T 1: 105,772,431 (GRCm39) A573S probably damaging Het
Tpbpb A T 13: 61,050,344 (GRCm39) probably benign Het
Trim24 T A 6: 37,928,447 (GRCm39) S590T probably damaging Het
Ttll3 G T 6: 113,369,725 (GRCm39) A90S possibly damaging Het
Ubr5 A T 15: 38,042,090 (GRCm39) S169T probably benign Het
Usp28 T C 9: 48,928,007 (GRCm39) V363A probably damaging Het
Vcan A G 13: 89,838,990 (GRCm39) S2185P probably benign Het
Vmn1r211 T C 13: 23,035,779 (GRCm39) H296R probably benign Het
Vmn2r3 G A 3: 64,166,537 (GRCm39) P865S probably damaging Het
Wapl A G 14: 34,414,415 (GRCm39) T426A probably benign Het
Wdr37 G T 13: 8,886,887 (GRCm39) T300K probably damaging Het
Wrap53 A T 11: 69,452,990 (GRCm39) V439E probably null Het
Wrn A G 8: 33,747,249 (GRCm39) S868P probably benign Het
Zfhx4 A G 3: 5,477,774 (GRCm39) E3463G probably damaging Het
Zfp189 T A 4: 49,529,283 (GRCm39) C129S possibly damaging Het
Zfp442 T C 2: 150,250,100 (GRCm39) K544E probably damaging Het
Zfp939 T A 7: 39,122,728 (GRCm39) noncoding transcript Het
Zfyve26 T C 12: 79,308,573 (GRCm39) H228R possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- GGCAGTTGTGACCATCTCTTG -3'
(R):5'- CTGGGCGACTGGAATTTCGAAG -3'

Sequencing Primer
(F):5'- ACCATCTCTTGCTTGGGGTGTATATC -3'
(R):5'- ACTGGAATTTCGAAGGTCCAGCTC -3'
Posted On 2014-06-30