Incidental Mutation 'R6784:H2bc4'
ID 531572
Institutional Source Beutler Lab
Gene Symbol H2bc4
Ensembl Gene ENSMUSG00000018102
Gene Name H2B clustered histone 4
Synonyms 2610022J01Rik, H2bfs, Hist1h2bc
MMRRC Submission 044898-MU
Accession Numbers
Essential gene? Not available question?
Stock # R6784 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 23868182-23876805 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23868483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 90 (I90T)
Ref Sequence ENSEMBL: ENSMUSP00000018246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018246] [ENSMUST00000171127]
AlphaFold Q6ZWY9
Predicted Effect probably damaging
Transcript: ENSMUST00000018246
AA Change: I90T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000018246
Gene: ENSMUSG00000018102
AA Change: I90T

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
H2B 28 124 1.43e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171127
SMART Domains Protein: ENSMUSP00000127684
Gene: ENSMUSG00000069270

DomainStartEndE-ValueType
H2A 3 123 8.07e-81 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.2%
Validation Efficiency 98% (46/47)
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 encodes a replication-dependent histone that is a member of the histone H2B family and generates two transcripts through the use of the conserved stem-loop termination motif, and the polyA addition motif. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass C T 6: 23,093,895 (GRCm39) S142N probably null Het
Aida A G 1: 183,103,346 (GRCm39) Y275C probably damaging Het
Arrdc4 A G 7: 68,398,594 (GRCm39) I74T probably benign Het
C1ql4 A G 15: 98,985,290 (GRCm39) V107A probably benign Het
Ccnh T C 13: 85,360,884 (GRCm39) V284A probably benign Het
Cd180 A G 13: 102,839,213 (GRCm39) E32G probably damaging Het
Chd6 T C 2: 160,808,174 (GRCm39) D1680G probably damaging Het
Cog7 A T 7: 121,563,516 (GRCm39) probably null Het
Cyp2j6 T A 4: 96,423,741 (GRCm39) Q209L possibly damaging Het
Dars1 A T 1: 128,319,084 (GRCm39) V116E probably damaging Het
Dnah10 A G 5: 124,854,890 (GRCm39) K1932E probably damaging Het
Dock9 A G 14: 121,780,926 (GRCm39) S2086P probably damaging Het
Espl1 C G 15: 102,207,660 (GRCm39) R375G probably benign Het
Fer1l6 C T 15: 58,443,275 (GRCm39) S526L possibly damaging Het
Galnt9 G A 5: 110,768,465 (GRCm39) R587H probably damaging Het
Gigyf2 G T 1: 87,371,396 (GRCm39) V1170L probably damaging Het
Gm14412 G T 2: 177,009,133 (GRCm39) T41K probably benign Het
Gm45861 A G 8: 27,990,086 (GRCm39) probably null Het
Hoxc5 A G 15: 102,922,322 (GRCm39) probably benign Het
Jkampl A T 6: 73,445,918 (GRCm39) Y210* probably null Het
Klra1 T C 6: 130,349,817 (GRCm39) D207G probably benign Het
Lancl2 A G 6: 57,680,240 (GRCm39) N57D probably benign Het
Map2k4 T C 11: 65,582,577 (GRCm39) probably benign Het
Mgat3 G T 15: 80,096,401 (GRCm39) Q409H probably damaging Het
Mpp3 T A 11: 101,892,974 (GRCm39) probably null Het
Myh1 T A 11: 67,105,396 (GRCm39) L1062Q probably damaging Het
Nebl T A 2: 17,439,725 (GRCm39) K183* probably null Het
Npat G C 9: 53,469,458 (GRCm39) D315H probably damaging Het
Nt5c2 A G 19: 46,912,766 (GRCm39) V63A probably damaging Het
Opn1sw T A 6: 29,379,846 (GRCm39) E129D probably damaging Het
Or10ag2 C T 2: 87,248,796 (GRCm39) R135C probably benign Het
Or1e29 T G 11: 73,667,676 (GRCm39) H159P probably damaging Het
Or51t4 A T 7: 102,597,722 (GRCm39) T17S possibly damaging Het
Or5p1 A T 7: 107,916,989 (GRCm39) D296V probably damaging Het
Prdm16 T C 4: 154,407,764 (GRCm39) Y1153C probably damaging Het
Prdm6 T A 18: 53,669,698 (GRCm39) D105E probably benign Het
Pwwp4c C T X: 73,684,021 (GRCm39) R355H probably damaging Homo
Rbm27 T C 18: 42,434,929 (GRCm39) M331T probably benign Het
S1pr1 A G 3: 115,505,710 (GRCm39) Y295H probably damaging Het
Sgpp1 G C 12: 75,782,243 (GRCm39) P32R probably benign Het
Sla2 C T 2: 156,725,589 (GRCm39) S3N unknown Het
Slc10a6 A G 5: 103,776,896 (GRCm39) I68T probably damaging Het
Slc5a1 T C 5: 33,315,460 (GRCm39) F493S probably benign Het
Snx14 A T 9: 88,263,845 (GRCm39) Y847N probably benign Het
Tmc1 A G 19: 20,805,015 (GRCm39) probably null Het
Vps8 C A 16: 21,381,957 (GRCm39) Q1130K probably benign Het
Other mutations in H2bc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4418:H2bc4 UTSW 13 23,868,486 (GRCm39) missense probably damaging 1.00
R7406:H2bc4 UTSW 13 23,868,342 (GRCm39) missense probably damaging 1.00
R8797:H2bc4 UTSW 13 23,868,552 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATCCGAAGATGCCTGAGCC -3'
(R):5'- TGGGTAAAACTGAACGCACTG -3'

Sequencing Primer
(F):5'- AGATGCCTGAGCCTGCGAAG -3'
(R):5'- CTCTCTTTGAGAAAGTGGGTGGC -3'
Posted On 2018-08-29