Incidental Mutation 'R7546:H2bc13'
ID 584227
Institutional Source Beutler Lab
Gene Symbol H2bc13
Ensembl Gene ENSMUSG00000094338
Gene Name H2B clustered histone 13
Synonyms Hist1h2bl
MMRRC Submission 045617-MU
Accession Numbers
Essential gene? Not available question?
Stock # R7546 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 21899933-21900313 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21900040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 92 (S92P)
Ref Sequence ENSEMBL: ENSMUSP00000089350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070124] [ENSMUST00000091756] [ENSMUST00000188775]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000070124
SMART Domains Protein: ENSMUSP00000088285
Gene: ENSMUSG00000071516

DomainStartEndE-ValueType
H2A 3 123 8.07e-81 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000091756
AA Change: S92P

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000089350
Gene: ENSMUSG00000094338
AA Change: S92P

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
H2B 28 124 4.64e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188775
SMART Domains Protein: ENSMUSP00000140394
Gene: ENSMUSG00000101355

DomainStartEndE-ValueType
H3 34 136 1.5e-75 SMART
Meta Mutation Damage Score 0.1520 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (40/40)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik A G 17: 48,348,330 (GRCm39) S36P probably benign Het
A530084C06Rik G T 13: 31,742,978 (GRCm39) R92S unknown Het
Ampd1 A G 3: 103,003,028 (GRCm39) T582A probably benign Het
Ank1 A C 8: 23,555,011 (GRCm39) N57T probably damaging Het
Atxn3 A G 12: 101,914,261 (GRCm39) probably null Het
Bace2 G A 16: 97,200,882 (GRCm39) A117T probably benign Het
Bcl2l15 A G 3: 103,740,203 (GRCm39) N19S probably benign Het
Bid C A 6: 120,877,112 (GRCm39) probably null Het
Cadps2 A T 6: 23,626,607 (GRCm39) M227K probably benign Het
Clip4 G A 17: 72,135,697 (GRCm39) C483Y possibly damaging Het
Dennd4a A G 9: 64,780,326 (GRCm39) T621A probably damaging Het
E2f3 G A 13: 30,094,112 (GRCm39) S383L probably damaging Het
F2r C T 13: 95,754,858 (GRCm39) V9I probably benign Het
Gm14226 T C 2: 154,867,131 (GRCm39) S363P probably damaging Het
Gstm5 T C 3: 107,804,610 (GRCm39) Y65H probably damaging Het
H60c A G 10: 3,209,907 (GRCm39) W127R probably damaging Het
Itgav G T 2: 83,606,894 (GRCm39) G448* probably null Het
Klrh1 T C 6: 129,749,343 (GRCm39) H84R probably benign Het
Lhx6 C T 2: 35,993,357 (GRCm39) probably null Het
Manba T A 3: 135,276,007 (GRCm39) V816D probably benign Het
Marchf10 G A 11: 105,280,906 (GRCm39) P460S not run Het
Mmp17 T A 5: 129,673,653 (GRCm39) V244E probably damaging Het
Mtrr C T 13: 68,730,268 (GRCm39) probably benign Het
Nup160 T C 2: 90,515,402 (GRCm39) I170T probably damaging Het
Or4c12b A G 2: 89,647,363 (GRCm39) N225S probably benign Het
Or4c12b A T 2: 89,647,538 (GRCm39) L283F probably damaging Het
Or51e1 T C 7: 102,358,996 (GRCm39) S177P probably damaging Het
Pappa G A 4: 65,074,352 (GRCm39) S302N possibly damaging Het
Plekhj1 G A 10: 80,633,748 (GRCm39) A53V possibly damaging Het
Pramel46 T A 5: 95,418,171 (GRCm39) H275L possibly damaging Het
Pramel48 C T 5: 95,630,539 (GRCm39) R139C probably benign Het
Prpf8 T C 11: 75,399,200 (GRCm39) V2157A probably damaging Het
Rps8 G A 4: 117,011,104 (GRCm39) R200W probably damaging Het
Sesn2 A G 4: 132,227,154 (GRCm39) F93L probably damaging Het
Skic3 C A 13: 76,282,954 (GRCm39) L759M probably damaging Het
Slf1 A G 13: 77,197,311 (GRCm39) S768P probably benign Het
Stat4 A G 1: 52,137,622 (GRCm39) N471S probably damaging Het
Trcg1 T C 9: 57,155,621 (GRCm39) L758P probably benign Het
Trim35 A G 14: 66,540,696 (GRCm39) T183A probably benign Het
Ttr C A 18: 20,803,102 (GRCm39) Y89* probably null Het
Zfp90 C A 8: 107,151,323 (GRCm39) H345Q probably benign Het
Zmym4 A G 4: 126,757,961 (GRCm39) V1531A probably damaging Het
Other mutations in H2bc13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01347:H2bc13 APN 13 21,900,064 (GRCm39) missense probably damaging 1.00
R0482:H2bc13 UTSW 13 21,900,295 (GRCm39) unclassified probably benign
R1341:H2bc13 UTSW 13 21,900,280 (GRCm39) missense probably benign 0.09
R1355:H2bc13 UTSW 13 21,900,027 (GRCm39) missense probably damaging 1.00
R4793:H2bc13 UTSW 13 21,900,088 (GRCm39) missense probably benign 0.00
R4816:H2bc13 UTSW 13 21,900,135 (GRCm39) missense probably benign 0.32
R4842:H2bc13 UTSW 13 21,900,234 (GRCm39) unclassified probably benign
R4917:H2bc13 UTSW 13 21,900,189 (GRCm39) missense probably damaging 0.97
R5355:H2bc13 UTSW 13 21,900,030 (GRCm39) missense probably damaging 1.00
R6036:H2bc13 UTSW 13 21,900,148 (GRCm39) missense probably damaging 0.99
R6036:H2bc13 UTSW 13 21,900,148 (GRCm39) missense probably damaging 0.99
R7972:H2bc13 UTSW 13 21,899,977 (GRCm39) missense possibly damaging 0.60
R8546:H2bc13 UTSW 13 21,900,042 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTTAGGTCCAAGGCAAGAG -3'
(R):5'- CAAGGAGAGCTACTCGGTGTAC -3'

Sequencing Primer
(F):5'- TGCAACAGCTTTTCCAGAGG -3'
(R):5'- AGCTACTCGGTGTACGTGTACAAG -3'
Posted On 2019-10-17