Incidental Mutation 'R1355:H2bc13'
ID 156294
Institutional Source Beutler Lab
Gene Symbol H2bc13
Ensembl Gene ENSMUSG00000094338
Gene Name H2B clustered histone 13
Synonyms Hist1h2bl
MMRRC Submission 039420-MU
Accession Numbers
Essential gene? Not available question?
Stock # R1355 (G1)
Quality Score 88
Status Not validated
Chromosome 13
Chromosomal Location 21899933-21900313 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21900027 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 96 (Q96L)
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: Q96L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000089350
Gene: ENSMUSG00000094338
AA Change: Q96L

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: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.4%
Validation Efficiency 100% (57/57)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Ankrd52 A G 10: 128,224,565 (GRCm39) D781G possibly damaging Het
Arhgef5 T A 6: 43,260,846 (GRCm39) F1424I probably damaging Het
Atp10b G A 11: 43,042,482 (GRCm39) W14* probably null Het
B4galnt4 T C 7: 140,645,308 (GRCm39) V259A probably damaging Het
Ccdc141 A T 2: 76,860,945 (GRCm39) I944N probably damaging Het
Ccdc146 A T 5: 21,526,240 (GRCm39) D224E probably damaging Het
Ccne1 A G 7: 37,805,747 (GRCm39) I43T possibly damaging Het
Cd226 T A 18: 89,265,147 (GRCm39) S29T probably benign Het
Cebpz G T 17: 79,242,753 (GRCm39) D300E probably benign Het
Cryzl1 A G 16: 91,489,546 (GRCm39) V266A possibly damaging Het
Cyp2c68 A G 19: 39,729,400 (GRCm39) L29P probably damaging Het
Dennd3 A C 15: 73,412,703 (GRCm39) probably benign Het
Dpy19l4 C T 4: 11,303,371 (GRCm39) W183* probably null Het
Eml6 T G 11: 29,783,085 (GRCm39) S599R probably benign Het
Erc1 A T 6: 119,720,381 (GRCm39) L440* probably null Het
Frem3 A G 8: 81,417,331 (GRCm39) Y2012C probably damaging Het
Garin5a A G 7: 44,146,115 (GRCm39) K2E possibly damaging Het
Gm10288 A T 3: 146,544,748 (GRCm39) noncoding transcript Het
Gm1110 T A 9: 26,795,057 (GRCm39) K476N probably benign Het
Gm11937 A T 11: 99,500,733 (GRCm39) S95T possibly damaging Het
Hs6st1 T A 1: 36,142,657 (GRCm39) H197Q probably damaging Het
Ism1 A T 2: 139,573,994 (GRCm39) I115F possibly damaging Het
Itgb8 C T 12: 119,134,738 (GRCm39) G443E probably benign Het
Kalrn T A 16: 33,795,954 (GRCm39) I1274F possibly damaging Het
Lrrcc1 G T 3: 14,613,174 (GRCm39) V299L probably benign Het
Mettl5 A T 2: 69,711,764 (GRCm39) probably null Het
Mtcl3 A T 10: 29,023,318 (GRCm39) T222S probably benign Het
Nlrp2 G T 7: 5,330,490 (GRCm39) N635K possibly damaging Het
Or4c3d G A 2: 89,881,957 (GRCm39) T237I probably benign Het
Or5ac16 A G 16: 59,022,043 (GRCm39) S249P probably damaging Het
Or5b112 T A 19: 13,319,882 (GRCm39) Y253* probably null Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Plxna1 A G 6: 89,297,748 (GRCm39) probably benign Het
Ppp4r1 A T 17: 66,147,982 (GRCm39) E924D probably benign Het
Prdm2 C T 4: 142,858,533 (GRCm39) V1586I probably benign Het
Pros1 A G 16: 62,739,921 (GRCm39) K457E probably benign Het
Rer1 T A 4: 155,160,081 (GRCm39) M156L probably benign Het
Rgs16 A T 1: 153,619,414 (GRCm39) K140M probably damaging Het
Rgsl1 A G 1: 153,683,507 (GRCm39) M1T probably null Het
Setdb2 T A 14: 59,654,890 (GRCm39) K333N probably damaging Het
Sgo2a A G 1: 58,057,124 (GRCm39) T1103A possibly damaging Het
Sik3 C T 9: 46,107,170 (GRCm39) probably benign Het
Slc44a3 C A 3: 121,325,320 (GRCm39) G47V probably damaging Het
Snrpd1 G A 18: 10,627,818 (GRCm39) G103D probably benign Het
Sspo T A 6: 48,425,560 (GRCm39) S60R probably benign Het
Susd1 C T 4: 59,424,114 (GRCm39) C37Y possibly damaging Het
Tiam1 A T 16: 89,695,109 (GRCm39) I116N probably benign Het
Ttc3 A G 16: 94,219,496 (GRCm39) S492G possibly damaging Het
Uckl1 G T 2: 181,215,169 (GRCm39) T213K probably damaging Het
Usp38 T C 8: 81,711,662 (GRCm39) E791G possibly damaging Het
Vps13b C T 15: 35,422,600 (GRCm39) R187C probably damaging Het
Vwa3a A G 7: 120,383,334 (GRCm39) Y645C probably damaging Het
Wasf3 T C 5: 146,407,018 (GRCm39) 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
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
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'- GCAAAGCCTGACTGTCCATTAACCC -3'
(R):5'- CGTGTACAAGGTGCTGAAGCAAGTG -3'

Sequencing Primer
(F):5'- CTTGTTAGGTCCAAGGCAAGAG -3'
(R):5'- AACGACATCTTCGAGCGCAT -3'
Posted On 2014-02-11