Incidental Mutation 'R7465:Cbx3'
ID 578700
Institutional Source Beutler Lab
Gene Symbol Cbx3
Ensembl Gene ENSMUSG00000029836
Gene Name chromobox 3
Synonyms M32, heterochromatin protein 1 gamma, HP1g
MMRRC Submission 045539-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.543) question?
Stock # R7465 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 51447596-51460684 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51455510 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 87 (D87G)
Ref Sequence ENSEMBL: ENSMUSP00000031862 (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: D87G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000031862
Gene: ENSMUSG00000029836
AA Change: D87G

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: D87G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000110091
Gene: ENSMUSG00000029836
AA Change: D87G

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: ENSMUST00000114445
SMART Domains Protein: ENSMUSP00000110088
Gene: ENSMUSG00000029836

DomainStartEndE-ValueType
Pfam:Chromo 30 60 1.4e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114446
AA Change: D87G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000110089
Gene: ENSMUSG00000029836
AA Change: D87G

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: D87G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000121370
Gene: ENSMUSG00000029836
AA Change: D87G

DomainStartEndE-ValueType
CHROMO 29 81 2.03e-17 SMART
low complexity region 90 109 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (59/59)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1a A T 13: 30,565,964 (GRCm39) D343V probably benign Het
Anks1 G A 17: 28,273,297 (GRCm39) R972Q possibly damaging Het
Atp2a2 T C 5: 122,599,763 (GRCm39) K543E probably benign Het
Atp8b5 G A 4: 43,271,269 (GRCm39) V4I probably benign Het
Bcar3 A T 3: 122,316,879 (GRCm39) N617Y probably benign Het
Blm A G 7: 80,162,863 (GRCm39) S163P probably benign Het
Celsr1 A G 15: 85,917,593 (GRCm39) S127P probably benign Het
Cndp1 A T 18: 84,637,666 (GRCm39) M356K probably damaging Het
Cnn2 G A 10: 79,828,361 (GRCm39) E113K probably damaging Het
Col17a1 T A 19: 47,656,544 (GRCm39) R573* probably null Het
Cttnbp2 T A 6: 18,501,991 (GRCm39) E49V probably damaging Het
Dipk1a T C 5: 108,057,550 (GRCm39) D336G probably damaging Het
Dynlrb2 T A 8: 117,241,696 (GRCm39) V80E possibly damaging Het
Ehbp1 A G 11: 22,088,001 (GRCm39) V386A probably benign Het
Elfn1 C T 5: 139,957,842 (GRCm39) P282L probably benign Het
Fan1 G A 7: 64,003,386 (GRCm39) T812I probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fat1 G A 8: 45,497,189 (GRCm39) V4225I probably benign Het
Frem1 A G 4: 82,833,072 (GRCm39) C1873R probably benign Het
Fsd1l T C 4: 53,647,755 (GRCm39) I66T probably benign Het
Gabrr1 C A 4: 33,146,970 (GRCm39) D52E probably benign Het
Il18rap T C 1: 40,582,249 (GRCm39) L390P probably damaging Het
Il27ra T A 8: 84,766,241 (GRCm39) D181V probably benign Het
Irgq C A 7: 24,233,834 (GRCm39) H558Q probably damaging Het
Itsn2 C T 12: 4,756,983 (GRCm39) Q1358* probably null Het
Kmt2c C T 5: 25,507,847 (GRCm39) G3197S probably damaging Het
Lrrk2 A G 15: 91,651,543 (GRCm39) Y1733C probably damaging Het
Mapk7 G A 11: 61,381,279 (GRCm39) A510V probably damaging Het
Mtch1 A T 17: 29,551,698 (GRCm39) C385S probably benign Het
Nfib A G 4: 82,271,758 (GRCm39) probably null Het
Nostrin C T 2: 69,015,851 (GRCm39) T448M possibly damaging Het
Or12j4 T A 7: 140,046,711 (GRCm39) V199D probably damaging Het
Or4c12b T C 2: 89,646,880 (GRCm39) L64P probably damaging Het
Or52e18 A G 7: 104,609,124 (GRCm39) Y272H probably benign Het
Or5a3 T A 19: 12,400,509 (GRCm39) Y279N probably damaging Het
Or5an10 T C 19: 12,275,801 (GRCm39) I232V probably benign Het
Or8k28 A G 2: 86,286,150 (GRCm39) V155A probably benign Het
Pcdha2 T C 18: 37,073,383 (GRCm39) V338A probably damaging Het
Pcdhgc3 A G 18: 37,940,798 (GRCm39) T400A probably benign Het
Piezo2 C T 18: 63,145,794 (GRCm39) S2710N probably benign Het
Ppp4r1 T A 17: 66,138,015 (GRCm39) Y591* probably null Het
Ptpn18 G A 1: 34,512,445 (GRCm39) D417N possibly damaging Het
Rab42 T C 4: 132,029,925 (GRCm39) E99G possibly damaging Het
Rd3l A T 12: 111,945,916 (GRCm39) W188R probably damaging Het
Sap30bp A G 11: 115,842,794 (GRCm39) D89G probably benign Het
Sptbn4 T C 7: 27,066,114 (GRCm39) T1985A probably benign Het
Tec T C 5: 72,931,223 (GRCm39) Y247C probably damaging Het
Tek G A 4: 94,716,063 (GRCm39) probably null Het
Tex14 T C 11: 87,405,256 (GRCm39) S723P possibly damaging Het
Thumpd3 T A 6: 113,024,592 (GRCm39) L62Q probably damaging Het
Tlr12 A T 4: 128,509,963 (GRCm39) D762E probably damaging Het
Tmem94 G T 11: 115,677,082 (GRCm39) R118L possibly damaging Het
Txndc16 T A 14: 45,402,845 (GRCm39) I316F probably damaging Het
Vamp1 T C 6: 125,195,538 (GRCm39) S2P unknown Het
Vmn1r211 T A 13: 23,036,086 (GRCm39) M194L probably benign Het
Zfp874a T A 13: 67,590,376 (GRCm39) Q436L probably damaging Het
Other mutations in Cbx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01356:Cbx3 APN 6 51,452,281 (GRCm39) missense probably damaging 0.97
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
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
Predicted Primers PCR Primer
(F):5'- CACATAGGGATTGAAAGTGGTTGTG -3'
(R):5'- CCACCACTTGGGATGCTAAC -3'

Sequencing Primer
(F):5'- TATAGGAAATGGGAGGGCATTCC -3'
(R):5'- CACCACTTGGGATGCTAACTTAAAG -3'
Posted On 2019-10-07