Incidental Mutation 'R3083:H2bc27'
ID 264074
Institutional Source Beutler Lab
Gene Symbol H2bc27
Ensembl Gene ENSMUSG00000056895
Gene Name H2B clustered histone 27
Synonyms H2bu2, Hist3h2ba, 1500011O09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # R3083 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 58839737-58840198 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58839802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 13 (K13E)
Ref Sequence ENSEMBL: ENSMUSP00000076397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078267]
AlphaFold Q9D2U9
PDB Structure Crystal structure of the nucleosome core particle containing the histone domain of macroH2A [X-RAY DIFFRACTION]
2.9 Angstrom X-ray structure of hybrid macroH2A nucleosomes [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000078267
AA Change: K13E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000076397
Gene: ENSMUSG00000056895
AA Change: K13E

DomainStartEndE-ValueType
H2B 28 124 4.33e-72 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency
MGI Phenotype FUNCTION: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. [provided by RefSeq, Sep 2015]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 A G 10: 106,859,576 (GRCm39) V341A possibly damaging Het
Armc2 T C 10: 41,842,726 (GRCm39) D359G probably damaging Het
Cdh6 T C 15: 13,044,838 (GRCm39) D428G probably damaging Het
Dennd4a A G 9: 64,813,363 (GRCm39) N1441D probably benign Het
Fbln1 T G 15: 85,149,454 (GRCm39) I617S probably benign Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gm15446 A G 5: 110,091,158 (GRCm39) N470S possibly damaging Het
Grin3a G A 4: 49,665,243 (GRCm39) R1131W probably benign Het
Incenp T A 19: 9,861,143 (GRCm39) M480L unknown Het
Lrp1b A T 2: 40,490,336 (GRCm39) M275K probably damaging Het
Lrrc14b C T 13: 74,511,337 (GRCm39) D248N possibly damaging Het
Nlrp5 T C 7: 23,129,588 (GRCm39) F885S probably benign Het
Or12d2 T C 17: 37,625,086 (GRCm39) N63S probably damaging Het
Or4c122 A C 2: 89,079,345 (GRCm39) V231G probably damaging Het
Or8b52 A G 9: 38,576,912 (GRCm39) V76A probably damaging Het
Plcl2 T A 17: 50,994,772 (GRCm39) N1080K probably benign Het
Rab3gap2 T A 1: 184,936,466 (GRCm39) S10T probably benign Het
Rtca G A 3: 116,301,674 (GRCm39) probably benign Het
Scn1a A G 2: 66,129,981 (GRCm39) F1278S probably damaging Het
Slitrk3 T C 3: 72,955,928 (GRCm39) D948G probably benign Het
Smu1 T C 4: 40,745,567 (GRCm39) D251G probably damaging Het
Ssh3 C T 19: 4,312,587 (GRCm39) R586H probably benign Het
Tomm40l A T 1: 171,048,780 (GRCm39) L78H probably damaging Het
Vmn2r4 A G 3: 64,296,788 (GRCm39) S666P probably damaging Het
Other mutations in H2bc27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02832:H2bc27 APN 11 58,839,869 (GRCm39) missense probably benign 0.06
R1848:H2bc27 UTSW 11 58,839,928 (GRCm39) missense possibly damaging 0.94
R4193:H2bc27 UTSW 11 58,840,067 (GRCm39) missense probably damaging 1.00
R4657:H2bc27 UTSW 11 58,839,797 (GRCm39) missense probably benign 0.09
R5550:H2bc27 UTSW 11 58,840,146 (GRCm39) makesense probably null
R5777:H2bc27 UTSW 11 58,839,835 (GRCm39) missense probably benign 0.00
R7671:H2bc27 UTSW 11 58,840,102 (GRCm39) missense possibly damaging 0.70
R8827:H2bc27 UTSW 11 58,839,917 (GRCm39) missense probably benign 0.32
X0019:H2bc27 UTSW 11 58,839,881 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- CTGCCAATACACTTTCGGATTG -3'
(R):5'- GCGCTCGAAGATGTCATTGAC -3'

Sequencing Primer
(F):5'- CCAATACACTTTCGGATTGGTTGG -3'
(R):5'- CATTGACGAACGAGTTCATGATGCC -3'
Posted On 2015-02-05