Incidental Mutation 'R3004:H2bc7'
ID 257398
Institutional Source Beutler Lab
Gene Symbol H2bc7
Ensembl Gene ENSMUSG00000069268
Gene Name H2B clustered histone 7
Synonyms Hist1h2bf
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.362) question?
Stock # R3004 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 23757934-23758381 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 23758355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000100737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079251] [ENSMUST00000090776] [ENSMUST00000102969] [ENSMUST00000105105] [ENSMUST00000105106]
AlphaFold P10853
PDB Structure Crystal structure of RAG2-PHD finger in complex with H3R2me2aK4me3 peptide [X-RAY DIFFRACTION]
Crystal structure of RAG2-PHD finger in complex with H3R2me2sK4me3 peptide [X-RAY DIFFRACTION]
Crystal structure of RAG2-PHD finger in complex with H3R2me2sK4me2 peptide [X-RAY DIFFRACTION]
Histone demethylase KDM2A-H3K36ME1-alpha-KG complex structure [X-RAY DIFFRACTION]
Crystal structure of histone demethylase kdm2a-h3k36me2 with alpha-kg [X-RAY DIFFRACTION]
Crystal structure of histone demethylase kdm2a-h3k36me3 complex with alpha-kg [X-RAY DIFFRACTION]
crystal structure of histone demethylase KDM2A-H3K36ME3 with NOG [X-RAY DIFFRACTION]
Crystal structure of histone demethylase KDM2A-H3K36ME2 with NOG [X-RAY DIFFRACTION]
Crystal structure of histone demethylase KDM2A-H3K36ME1 with NOG [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000079251
SMART Domains Protein: ENSMUSP00000078239
Gene: ENSMUSG00000058385

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
H2B 28 124 1.43e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000090776
SMART Domains Protein: ENSMUSP00000088281
Gene: ENSMUSG00000071478

DomainStartEndE-ValueType
H2A 3 123 8.07e-81 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102969
SMART Domains Protein: ENSMUSP00000100034
Gene: ENSMUSG00000069272

DomainStartEndE-ValueType
H2A 3 123 8.07e-81 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105105
SMART Domains Protein: ENSMUSP00000100737
Gene: ENSMUSG00000099583

DomainStartEndE-ValueType
H3 34 136 2.12e-75 SMART
Predicted Effect unknown
Transcript: ENSMUST00000105106
AA Change: P4S
SMART Domains Protein: ENSMUSP00000100738
Gene: ENSMUSG00000069268
AA Change: P4S

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
H2B 28 124 4.64e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199558
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200671
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk3 G A 7: 80,753,103 (GRCm39) W1553* probably null Het
Art2a T C 7: 101,203,972 (GRCm39) I189V probably benign Het
BC049715 A G 6: 136,816,790 (GRCm39) E10G possibly damaging Het
Ccdc158 A G 5: 92,796,929 (GRCm39) L469P probably damaging Het
Cspg4b T C 13: 113,502,688 (GRCm39) F131S probably damaging Het
Ctsm T C 13: 61,687,682 (GRCm39) I59V possibly damaging Het
Daam2 A G 17: 49,767,682 (GRCm39) F970L probably damaging Het
Gm21903 A T 17: 39,353,547 (GRCm39) probably benign Het
Gpr158 T A 2: 21,831,810 (GRCm39) M970K probably damaging Het
Hoxd10 T A 2: 74,522,706 (GRCm39) V128D probably benign Het
Ighv5-9 T C 12: 113,625,567 (GRCm39) T59A probably benign Het
Nlrp4c G A 7: 6,068,524 (GRCm39) V142M probably benign Het
Npc1 A G 18: 12,330,311 (GRCm39) F947L probably benign Het
Or1ak2 T A 2: 36,827,221 (GRCm39) I30N possibly damaging Het
Or56b1b G T 7: 108,164,151 (GRCm39) H284N probably benign Het
Piezo2 G T 18: 63,157,506 (GRCm39) Y223* probably null Het
Rhog A T 7: 101,889,345 (GRCm39) V36E probably damaging Het
Sbno1 G A 5: 124,519,771 (GRCm39) T1168I probably damaging Het
Sin3a T A 9: 57,004,118 (GRCm39) L290* probably null Het
Slco1c1 G T 6: 141,478,380 (GRCm39) A48S probably damaging Het
Slfn9 A T 11: 82,872,590 (GRCm39) S715R possibly damaging Het
Sox17 T C 1: 4,562,840 (GRCm39) E120G probably damaging Het
Other mutations in H2bc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4610:H2bc7 UTSW 13 23,758,231 (GRCm39) missense possibly damaging 0.87
R5997:H2bc7 UTSW 13 23,758,277 (GRCm39) unclassified probably benign
R6131:H2bc7 UTSW 13 23,758,310 (GRCm39) unclassified probably benign
R7873:H2bc7 UTSW 13 23,758,244 (GRCm39) missense probably damaging 1.00
R8352:H2bc7 UTSW 13 23,758,219 (GRCm39) missense probably damaging 1.00
R8452:H2bc7 UTSW 13 23,758,219 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGTTGTAATGCGCCAGGC -3'
(R):5'- CCAATGAGAAGCATTCGGGG -3'

Sequencing Primer
(F):5'- GTTCACAAACGAGTTCATGATGCC -3'
(R):5'- GCGCACGTTGATTGGGC -3'
Posted On 2015-01-11