Incidental Mutation 'IGL01976:Hist1h2ba'
ID182677
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hist1h2ba
Ensembl Gene ENSMUSG00000050799
Gene Namehistone cluster 1, H2ba
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01976
Quality Score
Status
Chromosome13
Chromosomal Location23933773-23934156 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 23933999 bp
ZygosityHeterozygous
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

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: 85,622,665 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