Incidental Mutation 'R5783:H2bc21'
ID 447847
Institutional Source Beutler Lab
Gene Symbol H2bc21
Ensembl Gene ENSMUSG00000068854
Gene Name H2B clustered histone 21
Synonyms Hist2h2be
MMRRC Submission 043380-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.254) question?
Stock # R5783 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 96128435-96131054 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96128615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 45 (V45A)
Ref Sequence ENSEMBL: ENSMUSP00000088287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073115] [ENSMUST00000090781] [ENSMUST00000090782] [ENSMUST00000177442]
AlphaFold Q64524
Predicted Effect probably benign
Transcript: ENSMUST00000073115
SMART Domains Protein: ENSMUSP00000072858
Gene: ENSMUSG00000063689

DomainStartEndE-ValueType
H2A 3 123 8.91e-83 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000090781
AA Change: V45A

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000088287
Gene: ENSMUSG00000068854
AA Change: V45A

DomainStartEndE-ValueType
low complexity region 5 18 N/A INTRINSIC
H2B 28 124 1.14e-71 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000090782
SMART Domains Protein: ENSMUSP00000088288
Gene: ENSMUSG00000068855

DomainStartEndE-ValueType
H2A 3 123 1.1e-82 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148335
Predicted Effect probably benign
Transcript: ENSMUST00000177442
SMART Domains Protein: ENSMUSP00000134765
Gene: ENSMUSG00000015943

DomainStartEndE-ValueType
low complexity region 20 35 N/A INTRINSIC
Pfam:BolA 40 113 7.8e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197012
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
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 encodes a replication-dependent histone that is a member of the histone H2B family, and generates two transcripts through the use of a putative stem-loop termination motif, and the polyA addition motif. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit impaired olfactory function and an increased lifespan of mature olfactory sensory neurons associated with decreased neuron apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T A 11: 23,468,787 (GRCm39) Y48F probably damaging Het
Apob A G 12: 8,051,022 (GRCm39) D1082G probably damaging Het
Cald1 G A 6: 34,730,468 (GRCm39) A236T possibly damaging Het
Ccdc88b A C 19: 6,831,284 (GRCm39) C553G probably benign Het
Cenpe A G 3: 134,967,341 (GRCm39) D2161G probably benign Het
Cep78 G T 19: 15,933,723 (GRCm39) N618K probably benign Het
Chka A G 19: 3,914,661 (GRCm39) N118D probably damaging Het
Dennd5a A C 7: 109,493,843 (GRCm39) I1263S probably damaging Het
Dnaaf9 A C 2: 130,581,003 (GRCm39) F582L possibly damaging Het
Dnm3 T C 1: 162,183,040 (GRCm39) T92A possibly damaging Het
Dpp9 T C 17: 56,518,655 (GRCm39) K50E probably damaging Het
Fen1 G T 19: 10,178,194 (GRCm39) Y83* probably null Het
Gm1110 A G 9: 26,793,632 (GRCm39) I532T probably benign Het
Impdh1 A T 6: 29,206,342 (GRCm39) F140Y possibly damaging Het
Kcnc4 T C 3: 107,355,188 (GRCm39) D420G possibly damaging Het
Kctd19 A G 8: 106,113,612 (GRCm39) V664A probably benign Het
Krt80 C T 15: 101,257,360 (GRCm39) probably null Het
Lars2 T G 9: 123,290,661 (GRCm39) M876R probably benign Het
Lrrc9 A G 12: 72,502,827 (GRCm39) E266G possibly damaging Het
Mesd T A 7: 83,544,883 (GRCm39) V120E probably damaging Het
Mogs C T 6: 83,095,652 (GRCm39) T823I probably damaging Het
Mrgprh C A 17: 13,096,333 (GRCm39) T191N probably benign Het
Mtss1 C T 15: 58,815,373 (GRCm39) S729N probably benign Het
Muc5b G T 7: 141,412,165 (GRCm39) E1704* probably null Het
Or2ag13 C A 7: 106,472,541 (GRCm39) V304F probably damaging Het
Or51m1 A T 7: 103,578,149 (GRCm39) I40F probably damaging Het
Or8k30 T C 2: 86,338,982 (GRCm39) Y60H probably damaging Het
Osbpl8 T A 10: 111,103,644 (GRCm39) L216* probably null Het
Pcdha5 T C 18: 37,095,534 (GRCm39) V681A probably benign Het
Pgap3 A C 11: 98,281,290 (GRCm39) V190G probably benign Het
Ppp2r5a A T 1: 191,086,837 (GRCm39) Y373N probably damaging Het
Prkdc T C 16: 15,535,665 (GRCm39) L1675P probably damaging Het
Rapgef2 T G 3: 78,995,300 (GRCm39) I635L probably benign Het
Rusc1 T C 3: 88,995,452 (GRCm39) D193G probably damaging Het
Ryr3 C T 2: 112,483,343 (GRCm39) V4140I probably benign Het
Scamp5 A G 9: 57,353,353 (GRCm39) probably null Het
Shoc1 A T 4: 59,076,239 (GRCm39) L568* probably null Het
Slc41a3 T C 6: 90,596,524 (GRCm39) I31T probably benign Het
Smad9 T C 3: 54,701,863 (GRCm39) V368A probably benign Het
Smim8 TTTAATGAAGAGCT TT 4: 34,771,261 (GRCm39) probably benign Het
St8sia1 T C 6: 142,909,340 (GRCm39) N52S possibly damaging Het
Svop T G 5: 114,202,996 (GRCm39) D72A possibly damaging Het
Sybu T C 15: 44,609,810 (GRCm39) I153V probably damaging Het
Tmem266 G T 9: 55,305,087 (GRCm39) S32I probably damaging Het
Trpm4 G T 7: 44,959,813 (GRCm39) R694S probably benign Het
Uqcrfs1 A G 13: 30,729,187 (GRCm39) L15P probably damaging Het
Vrtn T A 12: 84,697,251 (GRCm39) L667Q probably benign Het
Zc3h14 T A 12: 98,723,434 (GRCm39) S241R probably damaging Het
Zfp318 TGAAGAAGAAGAAGAAGAAGAAGAAGAAG TGAAGAAGAAGAAGAAGAAGAAG 17: 46,723,440 (GRCm39) probably benign Het
Zfp617 C A 8: 72,686,308 (GRCm39) H213N probably damaging Het
Zfp638 G A 6: 83,921,829 (GRCm39) G652D possibly damaging Het
Zmiz2 T C 11: 6,355,081 (GRCm39) L916P probably damaging Het
Other mutations in H2bc21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02503:H2bc21 APN 3 96,128,539 (GRCm39) missense probably benign 0.00
IGL02941:H2bc21 APN 3 96,128,732 (GRCm39) missense possibly damaging 0.70
R0648:H2bc21 UTSW 3 96,128,851 (GRCm39) missense probably benign
R2414:H2bc21 UTSW 3 96,128,750 (GRCm39) missense possibly damaging 0.50
R7002:H2bc21 UTSW 3 96,128,689 (GRCm39) missense probably benign 0.00
R7782:H2bc21 UTSW 3 96,128,487 (GRCm39) splice site probably null
R9173:H2bc21 UTSW 3 96,128,615 (GRCm39) missense possibly damaging 0.86
R9318:H2bc21 UTSW 3 96,128,681 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GCGTTCATAAAGGGCTCAAG -3'
(R):5'- TCTACTTGGCGCTGGTGTAC -3'

Sequencing Primer
(F):5'- TCAAGTCCTCCGGGTCC -3'
(R):5'- CAGTTCTCCGGGCAGTAGAAG -3'
Posted On 2016-12-15