Incidental Mutation 'IGL01976:Hist1h2ba'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hist1h2ba
Ensembl Gene ENSMUSG00000050799
Gene Namehistone cluster 1, H2ba
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01976
Quality Score
Chromosomal Location23933773-23934156 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 23933999 bp
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]
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

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

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: 85,622,665 V1960A possibly damaging Het
Asph A T 4: 9,475,471 N537K probably damaging Het
Bnip2 T C 9: 70,000,834 probably benign Het
Cc2d2a C A 5: 43,683,115 Q104K probably benign Het
Cd300ld A G 11: 114,987,444 S81P probably damaging Het
Clec4a1 T C 6: 122,928,074 probably benign Het
Dnajb8 T C 6: 88,222,526 S15P probably damaging Het
Erp27 C A 6: 136,919,989 V72L probably damaging Het
Gm13103 A G 4: 143,852,793 N316S probably benign Het
Gpr156 A G 16: 37,979,033 T131A probably damaging Het
Grk1 T C 8: 13,415,993 V479A probably damaging Het
Hspg2 A G 4: 137,561,926 D3784G probably damaging Het
Irf2 A T 8: 46,807,225 K26M probably damaging Het
Irx6 C A 8: 92,676,089 C27* probably null Het
Izumo1r C T 9: 14,901,679 C99Y probably damaging Het
Klrb1a T A 6: 128,618,109 T132S probably benign Het
Mmp13 C T 9: 7,278,974 probably benign Het
Myo5b G A 18: 74,698,277 R766Q probably damaging Het
Myt1 T C 2: 181,795,739 L81P probably damaging Het
Nfat5 G A 8: 107,367,559 V793I probably damaging Het
Nup210 A G 6: 91,053,614 V108A possibly damaging Het
Olfr32 A G 2: 90,138,924 S72P probably damaging Het
Omd T A 13: 49,589,643 Y56* probably null Het
Psmd9 A G 5: 123,234,634 E60G probably damaging Het
Rab11fip1 T C 8: 27,152,797 E658G possibly damaging Het
Smchd1 T A 17: 71,394,725 K1091* probably null Het
Supt16 A T 14: 52,182,307 N111K possibly damaging Het
Trrap A G 5: 144,856,989 T3666A probably benign Het
Ttn T C 2: 76,785,751 D8289G probably damaging Het
Ush2a T A 1: 188,911,241 S4267T probably benign Het
Usp50 T A 2: 126,709,466 E31V probably benign Het
Other mutations in Hist1h2ba
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02215:Hist1h2ba APN 13 23934110 missense probably benign 0.38
R0060:Hist1h2ba UTSW 13 23933945 missense possibly damaging 0.52
R1714:Hist1h2ba UTSW 13 23933952 missense probably benign 0.00
Posted On2014-05-07