Incidental Mutation 'R5355:H2bc13'
ID 424057
Institutional Source Beutler Lab
Gene Symbol H2bc13
Ensembl Gene ENSMUSG00000094338
Gene Name H2B clustered histone 13
Synonyms Hist1h2bl
MMRRC Submission 042934-MU
Accession Numbers
Essential gene? Not available question?
Stock # R5355 (G1)
Quality Score 206
Status Not validated
Chromosome 13
Chromosomal Location 21899933-21900313 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 21900030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 95 (I95N)
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 damaging
Transcript: ENSMUST00000091756
AA Change: I95N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089350
Gene: ENSMUSG00000094338
AA Change: I95N

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196836
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 94% (50/53)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T C 5: 8,776,873 (GRCm39) L857P probably damaging Het
Adam12 T C 7: 133,489,671 (GRCm39) *582W probably null Het
Adra1d A G 2: 131,403,007 (GRCm39) V361A probably damaging Het
Ank2 A G 3: 126,737,698 (GRCm39) probably benign Het
Atxn10 T A 15: 85,346,515 (GRCm39) N424K probably damaging Het
C8b A G 4: 104,637,860 (GRCm39) T111A probably benign Het
Ccdc168 A C 1: 44,097,139 (GRCm39) C1320G possibly damaging Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Cdr2l T C 11: 115,284,396 (GRCm39) V244A possibly damaging Het
Col11a2 A G 17: 34,270,775 (GRCm39) M468V probably benign Het
Col4a2 G A 8: 11,495,984 (GRCm39) R1535H probably damaging Het
Cryab A T 9: 50,664,751 (GRCm39) S59C probably damaging Het
Cuzd1 G A 7: 130,917,853 (GRCm39) T249I probably damaging Het
Disp2 G A 2: 118,617,392 (GRCm39) V129M probably benign Het
Dlg2 G T 7: 91,099,011 (GRCm39) R31L probably benign Het
Dthd1 A C 5: 62,996,730 (GRCm39) L488F probably damaging Het
Dusp29 G A 14: 21,727,091 (GRCm39) R186W probably benign Het
Fat2 T G 11: 55,172,992 (GRCm39) I2574L probably damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Fryl T C 5: 73,231,247 (GRCm39) D1610G probably damaging Het
Gm10330 T A 12: 23,830,131 (GRCm39) N17Y probably damaging Het
Gm4787 T A 12: 81,424,239 (GRCm39) R640* probably null Het
Ift88 T A 14: 57,675,699 (GRCm39) S71T probably benign Het
Isoc2b A G 7: 4,852,357 (GRCm39) probably benign Het
Itgb2 G T 10: 77,393,886 (GRCm39) R442L probably benign Het
Lama5 A T 2: 179,823,444 (GRCm39) N2658K possibly damaging Het
Lemd3 A T 10: 120,769,538 (GRCm39) I598K probably damaging Het
Lrp2 A T 2: 69,285,182 (GRCm39) C3825* probably null Het
Mep1a T C 17: 43,788,037 (GRCm39) D673G probably damaging Het
Met A G 6: 17,491,361 (GRCm39) Y41C probably damaging Het
Mfn2 A G 4: 147,979,035 (GRCm39) V99A probably damaging Het
Mmadhc A G 2: 50,181,436 (GRCm39) I78T probably benign Het
Mmp9 C A 2: 164,792,912 (GRCm39) P389T possibly damaging Het
Mvk T G 5: 114,590,499 (GRCm39) S7A probably damaging Het
Nlrp1a T A 11: 71,015,077 (GRCm39) T58S probably benign Het
Nlrp1c-ps C A 11: 71,148,839 (GRCm39) noncoding transcript Het
Nr1h3 A G 2: 91,022,253 (GRCm39) I125T possibly damaging Het
Or2a55-ps1 C T 6: 43,071,598 (GRCm39) noncoding transcript Het
Or8k39 A T 2: 86,563,680 (GRCm39) I92K probably damaging Het
Parn A G 16: 13,485,886 (GRCm39) I3T possibly damaging Het
Parp8 A G 13: 116,998,740 (GRCm39) probably null Het
Parva T C 7: 112,143,475 (GRCm39) probably null Het
Pwp2 A C 10: 78,011,378 (GRCm39) I672M possibly damaging Het
Sfswap C T 5: 129,616,810 (GRCm39) T418I probably benign Het
Slc6a3 A G 13: 73,709,078 (GRCm39) Y334C probably damaging Het
Slc7a13 C A 4: 19,839,267 (GRCm39) T290K probably benign Het
Spry2 A G 14: 106,130,712 (GRCm39) L158P probably damaging Het
Usp25 A G 16: 76,847,342 (GRCm39) E150G probably damaging Het
Zfp747 A G 7: 126,973,769 (GRCm39) F134L possibly damaging Het
Zp3r A G 1: 130,524,518 (GRCm39) F175S probably benign Het
Zscan22 C A 7: 12,640,435 (GRCm39) N67K probably benign 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
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
R7546:H2bc13 UTSW 13 21,900,040 (GRCm39) missense probably benign 0.19
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'- GTCATCAATAACCACGCATGTG -3'
(R):5'- AGCTACTCGGTGTACGTGTACAAG -3'
Posted On 2016-08-04