Incidental Mutation 'R2299:H2bc9'
ID 245274
Institutional Source Beutler Lab
Gene Symbol H2bc9
Ensembl Gene ENSMUSG00000114456
Gene Name H2B clustered histone 9
Synonyms Hist1h2bh
MMRRC Submission 040298-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.224) question?
Stock # R2299 (G1)
Quality Score 210
Status Validated
Chromosome 13
Chromosomal Location 23727093-23727614 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23727354 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q64478
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
4933434E20Rik A G 3: 89,971,845 (GRCm39) N68S possibly damaging Het
5031439G07Rik A C 15: 84,837,486 (GRCm39) F276V possibly damaging Het
Abca12 C T 1: 71,297,381 (GRCm39) V2370I probably damaging Het
Acsl3 T G 1: 78,676,827 (GRCm39) C469W probably damaging Het
Adgrg5 A T 8: 95,665,204 (GRCm39) I372F possibly damaging Het
Ankrd42 A G 7: 92,239,462 (GRCm39) I442T probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Bmpr1b C A 3: 141,550,963 (GRCm39) R376L probably damaging Het
C1qtnf6 T A 15: 78,409,542 (GRCm39) T102S probably benign Het
Chordc1 T C 9: 18,213,404 (GRCm39) L85P probably damaging Het
Clec2j T A 6: 128,632,199 (GRCm39) noncoding transcript Het
Copa T C 1: 171,949,292 (GRCm39) I1223T probably benign Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Cyfip2 T A 11: 46,176,958 (GRCm39) E74V probably benign Het
Dsg1a A T 18: 20,473,207 (GRCm39) D760V probably damaging Het
Folr1 A G 7: 101,513,199 (GRCm39) L32P probably damaging Het
Galnt13 A T 2: 54,950,595 (GRCm39) R425S possibly damaging Het
Gm4559 A T 7: 141,827,572 (GRCm39) C177S unknown Het
H3f3a C T 1: 180,630,703 (GRCm39) R117H probably benign Het
Kansl1l T C 1: 66,812,636 (GRCm39) D459G probably damaging Het
Limd1 A T 9: 123,345,942 (GRCm39) K574* probably null Het
Mmrn1 A G 6: 60,953,425 (GRCm39) K569E probably damaging Het
Or51f1d T C 7: 102,700,789 (GRCm39) W95R probably damaging Het
Ppp4r3c1 A G X: 88,976,005 (GRCm39) M64T possibly damaging Het
Ppwd1 T C 13: 104,356,571 (GRCm39) M315V probably benign Het
Prss21 A G 17: 24,088,563 (GRCm39) E176G probably benign Het
Ptpn23 A G 9: 110,221,581 (GRCm39) I173T possibly damaging Het
Rit1 T A 3: 88,633,377 (GRCm39) probably null Het
Rnf14 C T 18: 38,441,138 (GRCm39) A176V probably benign Het
Sema5a T A 15: 32,562,922 (GRCm39) V311E possibly damaging Het
Slc28a2 C T 2: 122,272,259 (GRCm39) Q34* probably null Het
Spire1 A C 18: 67,663,493 (GRCm39) L36R probably damaging Het
Usp33 T A 3: 152,080,258 (GRCm39) V463E probably damaging Het
Vcpip1 A G 1: 9,815,944 (GRCm39) L813S possibly damaging Het
Vmn1r174 A T 7: 23,453,429 (GRCm39) I32F probably benign Het
Zbtb24 G A 10: 41,340,577 (GRCm39) V536M probably damaging Het
Other mutations in H2bc9
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2266:H2bc9 UTSW 13 23,727,162 (GRCm39) missense possibly damaging 0.91
R2267:H2bc9 UTSW 13 23,727,162 (GRCm39) missense possibly damaging 0.91
R3620:H2bc9 UTSW 13 23,727,324 (GRCm39) 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 On 2014-10-30