Incidental Mutation 'IGL03397:Hist1h2bm'
ID421305
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hist1h2bm
Ensembl Gene ENSMUSG00000114279
Gene Namehistone cluster 1, H2bm
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.150) question?
Stock #IGL03397
Quality Score
Status
Chromosome13
Chromosomal Location21722044-21722567 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 21722381 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 95 (I95T)
Ref Sequence ENSEMBL: ENSMUSP00000153457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110476] [ENSMUST00000188775] [ENSMUST00000224651]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000091710
Predicted Effect possibly damaging
Transcript: ENSMUST00000110476
AA Change: I95T

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106102
Gene: ENSMUSG00000069303
AA Change: I95T

DomainStartEndE-ValueType
low complexity region 6 18 N/A INTRINSIC
H2B 28 124 1.43e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188775
SMART Domains Protein: ENSMUSP00000140394
Gene: ENSMUSG00000101355

DomainStartEndE-ValueType
H3 34 136 1.5e-75 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195897
Predicted Effect possibly damaging
Transcript: ENSMUST00000224651
AA Change: I95T

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
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. 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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930435E12Rik G A 16: 38,828,693 P18L probably damaging Het
Abcc2 A T 19: 43,784,304 Y51F probably benign Het
Ankrd42 G A 7: 92,619,554 L194F probably damaging Het
Ccdc81 G T 7: 89,896,828 T56N probably damaging Het
Cdh10 T C 15: 18,964,028 I92T probably damaging Het
Eif2b4 A G 5: 31,187,653 I550T probably damaging Het
Epb41l3 A G 17: 69,248,692 Y304C probably damaging Het
Gm10244 A G 6: 39,420,806 probably benign Het
Gm5416 A T 16: 36,213,614 I55F probably damaging Het
Lrrc74a T C 12: 86,758,538 V378A probably benign Het
Mcm6 C T 1: 128,344,302 D453N probably damaging Het
Mctp2 A G 7: 72,259,277 L96P probably damaging Het
Nlrp5 G A 7: 23,413,334 V139M probably damaging Het
Nrcam T G 12: 44,559,757 S429A probably damaging Het
Olfr235 C A 19: 12,268,502 Q91K probably benign Het
Pdgfrb A T 18: 61,079,681 T886S probably benign Het
Rapgef5 T A 12: 117,748,441 F754L probably damaging Het
Sbf1 T C 15: 89,288,721 K1863R probably damaging Het
Sis T C 3: 72,935,879 T751A probably benign Het
Six3 G T 17: 85,621,646 R136L probably damaging Het
Slc6a12 A G 6: 121,357,045 D280G probably damaging Het
Sox2 A G 3: 34,650,537 D41G probably damaging Het
Stxbp4 A T 11: 90,540,234 L417M probably damaging Het
Tcam1 A G 11: 106,285,386 I313V probably benign Het
Tgm2 T C 2: 158,120,258 Y547C probably damaging Het
Thsd7b A G 1: 129,596,164 R312G probably benign Het
Tmem94 G T 11: 115,787,568 probably benign Het
Usp39 A G 6: 72,336,313 M298T possibly damaging Het
Vmn2r85 C T 10: 130,425,394 C358Y probably damaging Het
Zscan18 A T 7: 12,773,561 S497T probably damaging Het
Other mutations in Hist1h2bm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Hist1h2bm APN 13 21722375 missense possibly damaging 0.92
IGL00429:Hist1h2bm APN 13 21722140 missense possibly damaging 0.93
IGL02890:Hist1h2bm APN 13 21722186 missense probably benign
R5910:Hist1h2bm UTSW 13 21722300 missense probably benign
R8158:Hist1h2bm UTSW 13 21722461 missense probably benign 0.01
Posted On2016-08-02