Incidental Mutation 'IGL01976:H2bc1'
ID 182677
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2bc1
Ensembl Gene ENSMUSG00000050799
Gene Name H2B clustered histone 1
Synonyms Hist1h2ba
Accession Numbers
Essential gene? Not available question?
Stock # IGL01976
Quality Score
Status
Chromosome 13
Chromosomal Location 24117756-24118139 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24117982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 53 (D53V)
Ref Sequence ENSEMBL: ENSMUSP00000056604 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052776] [ENSMUST00000072391]
AlphaFold P70696
Predicted Effect possibly damaging
Transcript: ENSMUST00000052776
AA Change: D53V

PolyPhen 2 Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000056604
Gene: ENSMUSG00000050799
AA Change: D53V

DomainStartEndE-ValueType
H2B 29 125 2.49e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000072391
SMART Domains Protein: ENSMUSP00000072227
Gene: ENSMUSG00000060081

DomainStartEndE-ValueType
H2A 4 123 2.45e-80 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200287
Coding Region Coverage
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 H2A family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 T C 6: 85,599,647 (GRCm39) V1960A possibly damaging Het
Asph A T 4: 9,475,471 (GRCm39) N537K probably damaging Het
Bnip2 T C 9: 69,908,116 (GRCm39) probably benign Het
Cc2d2a C A 5: 43,840,457 (GRCm39) Q104K probably benign Het
Cd300ld A G 11: 114,878,270 (GRCm39) S81P probably damaging Het
Clec4a1 T C 6: 122,905,033 (GRCm39) probably benign Het
Dnajb8 T C 6: 88,199,508 (GRCm39) S15P probably damaging Het
Erp27 C A 6: 136,896,987 (GRCm39) V72L probably damaging Het
Gpr156 A G 16: 37,799,395 (GRCm39) T131A probably damaging Het
Grk1 T C 8: 13,465,993 (GRCm39) V479A probably damaging Het
Hspg2 A G 4: 137,289,237 (GRCm39) D3784G probably damaging Het
Irf2 A T 8: 47,260,260 (GRCm39) K26M probably damaging Het
Irx6 C A 8: 93,402,717 (GRCm39) C27* probably null Het
Izumo1r C T 9: 14,812,975 (GRCm39) C99Y probably damaging Het
Klrb1a T A 6: 128,595,072 (GRCm39) T132S probably benign Het
Mmp13 C T 9: 7,278,974 (GRCm39) probably benign Het
Myo5b G A 18: 74,831,348 (GRCm39) R766Q probably damaging Het
Myt1 T C 2: 181,437,532 (GRCm39) L81P probably damaging Het
Nfat5 G A 8: 108,094,191 (GRCm39) V793I probably damaging Het
Nup210 A G 6: 91,030,596 (GRCm39) V108A possibly damaging Het
Omd T A 13: 49,743,119 (GRCm39) Y56* probably null Het
Or4b1d A G 2: 89,969,268 (GRCm39) S72P probably damaging Het
Pramel27 A G 4: 143,579,363 (GRCm39) N316S probably benign Het
Psmd9 A G 5: 123,372,697 (GRCm39) E60G probably damaging Het
Rab11fip1 T C 8: 27,642,825 (GRCm39) E658G possibly damaging Het
Smchd1 T A 17: 71,701,720 (GRCm39) K1091* probably null Het
Supt16 A T 14: 52,419,764 (GRCm39) N111K possibly damaging Het
Trrap A G 5: 144,793,799 (GRCm39) T3666A probably benign Het
Ttn T C 2: 76,616,095 (GRCm39) D8289G probably damaging Het
Ush2a T A 1: 188,643,438 (GRCm39) S4267T probably benign Het
Usp50 T A 2: 126,551,386 (GRCm39) E31V probably benign Het
Other mutations in H2bc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02215:H2bc1 APN 13 24,118,093 (GRCm39) missense probably benign 0.38
R0060:H2bc1 UTSW 13 24,117,928 (GRCm39) missense possibly damaging 0.52
R1714:H2bc1 UTSW 13 24,117,935 (GRCm39) missense probably benign 0.00
R9138:H2bc1 UTSW 13 24,118,112 (GRCm39) missense probably benign
Posted On 2014-05-07