Incidental Mutation 'R9173:H2bc21'
ID 696515
Institutional Source Beutler Lab
Gene Symbol H2bc21
Ensembl Gene ENSMUSG00000068854
Gene Name H2B clustered histone 21
Synonyms Hist2h2be
MMRRC Submission 068947-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.211) question?
Stock # R9173 (G1)
Quality Score 225.009
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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1a G T 9: 119,170,190 (GRCm39) probably benign Het
Clstn1 A G 4: 149,710,564 (GRCm39) T79A probably benign Het
Cpd C T 11: 76,699,649 (GRCm39) R634Q probably damaging Het
Ctnna2 T C 6: 76,896,939 (GRCm39) D753G probably damaging Het
Cyp51 T C 5: 4,136,504 (GRCm39) N430S probably benign Het
Dnajc17 A T 2: 119,009,894 (GRCm39) V244D probably benign Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Dysf A G 6: 84,171,379 (GRCm39) K1796E probably benign Het
Eftud2 A T 11: 102,734,242 (GRCm39) V659E probably damaging Het
Ercc4 G A 16: 12,939,973 (GRCm39) A168T possibly damaging Het
Exd2 T C 12: 80,536,236 (GRCm39) Y289H probably benign Het
Fat2 C A 11: 55,169,763 (GRCm39) V2999L probably damaging Het
Fgd5 T C 6: 92,044,584 (GRCm39) probably null Het
Fkbp9 T C 6: 56,850,389 (GRCm39) S422P possibly damaging Het
H2-Eb2 A G 17: 34,552,491 (GRCm39) D112G probably benign Het
Herc2 A T 7: 55,856,350 (GRCm39) R3929S probably damaging Het
Hrc G A 7: 44,986,799 (GRCm39) probably null Het
Ighv5-8 T A 12: 113,618,681 (GRCm39) V32D probably benign Het
Itgal G T 7: 126,896,789 (GRCm39) probably null Het
Jcad T A 18: 4,675,820 (GRCm39) V1194E probably benign Het
Kat8 A G 7: 127,511,863 (GRCm39) T54A probably benign Het
Kcnu1 G A 8: 26,390,074 (GRCm39) probably null Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Lama1 A G 17: 68,076,597 (GRCm39) T1124A Het
Lrp2 T A 2: 69,299,731 (GRCm39) D3107V probably damaging Het
Map6 G A 7: 98,917,935 (GRCm39) R236H probably damaging Het
Mycbpap T A 11: 94,397,209 (GRCm39) N64I probably damaging Het
Nop14 A G 5: 34,806,776 (GRCm39) S443P probably damaging Het
Nxn T C 11: 76,149,560 (GRCm39) D380G possibly damaging Het
Or1e28-ps1 T A 11: 73,615,734 (GRCm39) I39F possibly damaging Het
Patj A T 4: 98,526,958 (GRCm39) M1390L probably benign Het
Pcyox1l A G 18: 61,830,663 (GRCm39) L403P probably damaging Het
Peg10 T TCCC 6: 4,756,451 (GRCm39) probably benign Het
Pkhd1l1 A G 15: 44,384,152 (GRCm39) S1181G probably benign Het
Prom1 A T 5: 44,220,520 (GRCm39) I76N possibly damaging Het
Relch A G 1: 105,678,128 (GRCm39) E1151G probably benign Het
Rnft1 T C 11: 86,377,001 (GRCm39) S22P probably benign Het
Sec31a T C 5: 100,529,147 (GRCm39) T733A possibly damaging Het
Serpina1c A G 12: 103,862,328 (GRCm39) I329T possibly damaging Het
Slco1a4 T C 6: 141,761,299 (GRCm39) D438G probably benign Het
Slit2 G A 5: 48,377,285 (GRCm39) C438Y probably damaging Het
Sorcs1 T A 19: 50,220,753 (GRCm39) I566F possibly damaging Het
Spata31e5 T A 1: 28,816,430 (GRCm39) E534V probably benign Het
Spata7 T A 12: 98,603,853 (GRCm39) S73R probably damaging Het
Stau2 G A 1: 16,444,933 (GRCm39) R332* probably null Het
Sytl3 T C 17: 7,000,471 (GRCm39) F419L probably damaging Het
Tet1 A C 10: 62,676,065 (GRCm39) D670E probably benign Het
Trafd1 T C 5: 121,516,598 (GRCm39) R202G possibly damaging Het
Tubal3 A T 13: 3,983,050 (GRCm39) T277S possibly damaging Het
Ube4b A G 4: 149,415,933 (GRCm39) F1054L probably damaging Het
Unc13b C A 4: 43,177,421 (GRCm39) Q2750K unknown Het
Usp29 T C 7: 6,964,636 (GRCm39) S160P possibly damaging Het
Vmn2r114 A T 17: 23,510,527 (GRCm39) I651N probably damaging Het
Ypel1 A T 16: 16,915,298 (GRCm39) C103* probably null Het
Zfp11 A T 5: 129,734,891 (GRCm39) I190N 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
R5783:H2bc21 UTSW 3 96,128,615 (GRCm39) missense possibly damaging 0.86
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
R9318:H2bc21 UTSW 3 96,128,681 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GCATAAGGCGTTCATAAAGGGC -3'
(R):5'- AGTTCTCCGGGCAGTAGAAG -3'

Sequencing Primer
(F):5'- GCGTTCATAAAGGGCTCAAGTCC -3'
(R):5'- CAGTAGAAGGCGCACCGAC -3'
Posted On 2022-02-07