Incidental Mutation 'R2299:Hist1h2bh'
ID245274
Institutional Source Beutler Lab
Gene Symbol Hist1h2bh
Ensembl Gene ENSMUSG00000114456
Gene Namehistone cluster 1, H2bh
Synonyms
MMRRC Submission 040298-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.257) question?
Stock #R2299 (G1)
Quality Score210
Status Validated
Chromosome13
Chromosomal Location23541714-23543392 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 23543184 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 57 (S57P)
Ref Sequence ENSEMBL: ENSMUSP00000153277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075558] [ENSMUST00000078156] [ENSMUST00000224359]
Predicted Effect probably benign
Transcript: ENSMUST00000075558
SMART Domains Protein: ENSMUSP00000074994
Gene: ENSMUSG00000100210

DomainStartEndE-ValueType
H3 34 136 2.12e-75 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000078156
AA Change: S57P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077290
Gene: ENSMUSG00000069307
AA Change: S57P

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
H2B 28 124 1.43e-72 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000224359
AA Change: S57P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.1791 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (37/37)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930415L06Rik A G X: 89,932,399 M64T possibly damaging Het
4933434E20Rik A G 3: 90,064,538 N68S possibly damaging Het
5031439G07Rik A C 15: 84,953,285 F276V possibly damaging Het
Abca12 C T 1: 71,258,222 V2370I probably damaging Het
Acsl3 T G 1: 78,699,110 C469W probably damaging Het
Adgrg5 A T 8: 94,938,576 I372F possibly damaging Het
Ankrd42 A G 7: 92,590,254 I442T probably benign Het
Arsi G A 18: 60,916,651 G202E probably benign Het
Bmpr1b C A 3: 141,845,202 R376L probably damaging Het
C1qtnf6 T A 15: 78,525,342 T102S probably benign Het
Chordc1 T C 9: 18,302,108 L85P probably damaging Het
Clec2j T A 6: 128,655,236 noncoding transcript Het
Copa T C 1: 172,121,725 I1223T probably benign Het
Crygs C T 16: 22,805,551 G102D possibly damaging Het
Cyfip2 T A 11: 46,286,131 E74V probably benign Het
Dsg1a A T 18: 20,340,150 D760V probably damaging Het
Folr1 A G 7: 101,863,992 L32P probably damaging Het
Galnt13 A T 2: 55,060,583 R425S possibly damaging Het
Gm4559 A T 7: 142,273,835 C177S unknown Het
H3f3a C T 1: 180,803,138 R117H probably benign Het
Kansl1l T C 1: 66,773,477 D459G probably damaging Het
Limd1 A T 9: 123,516,877 K574* probably null Het
Mmrn1 A G 6: 60,976,441 K569E probably damaging Het
Olfr583 T C 7: 103,051,582 W95R probably damaging Het
Ppwd1 T C 13: 104,220,063 M315V probably benign Het
Prss21 A G 17: 23,869,589 E176G probably benign Het
Ptpn23 A G 9: 110,392,513 I173T possibly damaging Het
Rit1 T A 3: 88,726,070 probably null Het
Rnf14 C T 18: 38,308,085 A176V probably benign Het
Sema5a T A 15: 32,562,776 V311E possibly damaging Het
Slc28a2 C T 2: 122,441,778 Q34* probably null Het
Spire1 A C 18: 67,530,423 L36R probably damaging Het
Usp33 T A 3: 152,374,621 V463E probably damaging Het
Vcpip1 A G 1: 9,745,719 L813S possibly damaging Het
Vmn1r174 A T 7: 23,754,004 I32F probably benign Het
Zbtb24 G A 10: 41,464,581 V536M probably damaging Het
Other mutations in Hist1h2bh
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2266:Hist1h2bh UTSW 13 23542992 missense possibly damaging 0.91
R2267:Hist1h2bh UTSW 13 23542992 missense possibly damaging 0.91
R3620:Hist1h2bh UTSW 13 23543154 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGAGTCTTGAGCACTCACTTGG -3'
(R):5'- CTGTTCACTATGCCTGAGCC -3'

Sequencing Primer
(F):5'- CTCACTTGGAGCTGGTGTAC -3'
(R):5'- TATGCCTGAGCCCGCCAAG -3'
Posted On2014-10-30