Incidental Mutation 'IGL01356:Cbx3'
ID 75537
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cbx3
Ensembl Gene ENSMUSG00000029836
Gene Name chromobox 3
Synonyms M32, heterochromatin protein 1 gamma, HP1g
Accession Numbers
Essential gene? Possibly essential (E-score: 0.581) question?
Stock # IGL01356
Quality Score
Status
Chromosome 6
Chromosomal Location 51447596-51460684 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 51452281 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 32 (V32A)
Ref Sequence ENSEMBL: ENSMUSP00000110088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031862] [ENSMUST00000094623] [ENSMUST00000114445] [ENSMUST00000114446] [ENSMUST00000141711]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000031862
AA Change: V32A

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031862
Gene: ENSMUSG00000029836
AA Change: V32A

DomainStartEndE-ValueType
CHROMO 29 81 2.03e-17 SMART
low complexity region 90 113 N/A INTRINSIC
ChSh 115 177 6.46e-34 SMART
CHROMO 120 172 5.92e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000094623
AA Change: V32A

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110091
Gene: ENSMUSG00000029836
AA Change: V32A

DomainStartEndE-ValueType
CHROMO 29 81 2.03e-17 SMART
low complexity region 90 113 N/A INTRINSIC
ChSh 115 177 6.46e-34 SMART
CHROMO 120 172 5.92e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114445
AA Change: V32A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110088
Gene: ENSMUSG00000029836
AA Change: V32A

DomainStartEndE-ValueType
Pfam:Chromo 30 60 1.4e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114446
AA Change: V32A

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110089
Gene: ENSMUSG00000029836
AA Change: V32A

DomainStartEndE-ValueType
CHROMO 29 81 2.03e-17 SMART
low complexity region 90 113 N/A INTRINSIC
ChSh 115 177 6.46e-34 SMART
CHROMO 120 172 5.92e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000141711
AA Change: V32A

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000121370
Gene: ENSMUSG00000029836
AA Change: V32A

DomainStartEndE-ValueType
CHROMO 29 81 2.03e-17 SMART
low complexity region 90 109 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153699
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156463
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203404
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] At the nuclear envelope, the nuclear lamina and heterochromatin are adjacent to the inner nuclear membrane. The protein encoded by this gene binds DNA and is a component of heterochromatin. This protein also can bind lamin B receptor, an integral membrane protein found in the inner nuclear membrane. The dual binding functions of the encoded protein may explain the association of heterochromatin with the inner nuclear membrane. This protein binds histone H3 tails methylated at Lys-9 sites. This protein is also recruited to sites of ultraviolet-induced DNA damage and double-strand breaks. Two transcript variants encoding the same protein but differing in the 5' UTR, have been found for this gene.[provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a gene trap allele are infertile. Mice homozygous for a hypomorphic targeted allele exhibit partial postnatal lethality and male infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA474408 T C 7: 109,660,189 (GRCm39) probably benign Het
Acsl1 T C 8: 46,964,500 (GRCm39) probably null Het
Adck2 T C 6: 39,560,854 (GRCm39) V463A probably benign Het
Armh3 C T 19: 45,954,742 (GRCm39) C149Y possibly damaging Het
B4galt4 T A 16: 38,574,506 (GRCm39) I224N probably damaging Het
Caprin1 T C 2: 103,605,801 (GRCm39) T396A probably benign Het
Chd1 A T 17: 15,970,127 (GRCm39) K960I probably damaging Het
Cldn4 A G 5: 134,975,343 (GRCm39) I86T probably benign Het
Cst12 A C 2: 148,631,468 (GRCm39) D50A probably damaging Het
Dock10 A G 1: 80,501,459 (GRCm39) Y1864H probably damaging Het
Dscaml1 G A 9: 45,658,155 (GRCm39) G1642E probably benign Het
Jakmip3 T C 7: 138,619,341 (GRCm39) L241P probably damaging Het
Kdm1a C T 4: 136,281,202 (GRCm39) R669H probably damaging Het
Lin54 G A 5: 100,601,876 (GRCm39) P455S probably damaging Het
Lrig1 A G 6: 94,631,901 (GRCm39) Y100H probably benign Het
Lrig1 G A 6: 94,586,874 (GRCm39) P601S probably damaging Het
Mtrf1 A G 14: 79,660,865 (GRCm39) D419G probably benign Het
Naca C T 10: 127,877,584 (GRCm39) probably benign Het
Naip1 A G 13: 100,559,722 (GRCm39) L1094P probably damaging Het
Nell2 A T 15: 95,127,064 (GRCm39) N770K probably damaging Het
Notch4 A G 17: 34,800,000 (GRCm39) H987R possibly damaging Het
Or2a52 T A 6: 43,144,324 (GRCm39) C111S probably damaging Het
Or5p63 T A 7: 107,810,933 (GRCm39) I268F probably benign Het
Or7g26 T A 9: 19,230,238 (GRCm39) M142K probably damaging Het
Pate13 T A 9: 35,820,244 (GRCm39) C33* probably null Het
Plcg1 G T 2: 160,595,813 (GRCm39) G561W probably damaging Het
Ripor3 T A 2: 167,835,495 (GRCm39) M159L probably benign Het
Serpinb6a A G 13: 34,109,400 (GRCm39) S111P possibly damaging Het
Tas1r3 A T 4: 155,945,784 (GRCm39) H537Q probably benign Het
Tefm G A 11: 80,028,823 (GRCm39) R43* probably null Het
Tiam1 A G 16: 89,634,676 (GRCm39) V878A probably damaging Het
Vmn1r203 A G 13: 22,708,947 (GRCm39) S243G probably damaging Het
Vmn2r124 G T 17: 18,293,733 (GRCm39) V607L probably benign Het
Vps8 T G 16: 21,336,107 (GRCm39) probably null Het
Ythdf2 A T 4: 131,932,661 (GRCm39) D166E possibly damaging Het
Zan A G 5: 137,434,694 (GRCm39) V2203A unknown Het
Other mutations in Cbx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2037:Cbx3 UTSW 6 51,448,793 (GRCm39) splice site probably null
R4877:Cbx3 UTSW 6 51,459,540 (GRCm39) missense possibly damaging 0.59
R5138:Cbx3 UTSW 6 51,452,269 (GRCm39) missense probably damaging 1.00
R5518:Cbx3 UTSW 6 51,458,726 (GRCm39) missense probably benign 0.12
R7350:Cbx3 UTSW 6 51,452,355 (GRCm39) critical splice donor site probably null
R7465:Cbx3 UTSW 6 51,455,510 (GRCm39) missense probably benign 0.00
R8093:Cbx3 UTSW 6 51,458,748 (GRCm39) missense possibly damaging 0.72
R8230:Cbx3 UTSW 6 51,452,281 (GRCm39) missense probably damaging 0.97
R8244:Cbx3 UTSW 6 51,452,350 (GRCm39) missense probably benign 0.00
R9151:Cbx3 UTSW 6 51,455,533 (GRCm39) missense probably benign 0.00
X0020:Cbx3 UTSW 6 51,458,732 (GRCm39) missense probably benign 0.20
X0025:Cbx3 UTSW 6 51,459,495 (GRCm39) missense probably benign 0.07
Posted On 2013-10-07