Incidental Mutation 'R6797:H2bc12'
ID 533063
Institutional Source Beutler Lab
Gene Symbol H2bc12
Ensembl Gene ENSMUSG00000062727
Gene Name H2B clustered histone 12
Synonyms Hist1h2bk
MMRRC Submission 044910-MU
Accession Numbers
Essential gene? Not available question?
Stock # R6797 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 22220040-22220515 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 22220259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 68 (N68I)
Ref Sequence ENSEMBL: ENSMUSP00000106085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091742] [ENSMUST00000102977] [ENSMUST00000110455]
AlphaFold Q8CGP1
Predicted Effect probably benign
Transcript: ENSMUST00000091742
SMART Domains Protein: ENSMUSP00000089336
Gene: ENSMUSG00000069302

DomainStartEndE-ValueType
H2A 3 123 8.07e-81 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102977
SMART Domains Protein: ENSMUSP00000100042
Gene: ENSMUSG00000060639

DomainStartEndE-ValueType
H4 16 90 2.59e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110455
AA Change: N68I

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106085
Gene: ENSMUSG00000062727
AA Change: N68I

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
H2B 28 124 4.64e-72 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.8%
Validation Efficiency 100% (42/42)
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. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c18 T A 13: 4,195,276 (GRCm39) I61L probably benign Het
Angptl2 T C 2: 33,118,277 (GRCm39) V17A probably benign Het
Casp14 T C 10: 78,550,975 (GRCm39) D70G possibly damaging Het
Cckbr A G 7: 105,083,773 (GRCm39) M234V possibly damaging Het
Cd93 T C 2: 148,284,044 (GRCm39) N434S probably benign Het
Cenpe A T 3: 134,943,899 (GRCm39) Q938L possibly damaging Het
Col6a3 A C 1: 90,731,810 (GRCm39) V1481G probably damaging Het
Dnah5 G T 15: 28,233,384 (GRCm39) E248* probably null Het
Dnah5 G A 15: 28,451,609 (GRCm39) R4349Q probably damaging Het
F11 A G 8: 45,706,092 (GRCm39) Y98H probably benign Het
Fen1 A G 19: 10,178,067 (GRCm39) F126L probably benign Het
Gpr146 G A 5: 139,378,795 (GRCm39) G199D possibly damaging Het
Gramd1b A G 9: 40,219,702 (GRCm39) I324T probably benign Het
Hivep1 C A 13: 42,310,557 (GRCm39) S932R probably benign Het
Hk3 A T 13: 55,158,644 (GRCm39) probably null Het
Hspbp1 T A 7: 4,663,781 (GRCm39) M355L possibly damaging Het
Jaml T C 9: 45,000,058 (GRCm39) C77R probably damaging Het
Kmt2e A G 5: 23,687,505 (GRCm39) N452D possibly damaging Het
Krt5 T C 15: 101,621,076 (GRCm39) Y57C unknown Het
Lipn A T 19: 34,058,160 (GRCm39) M294L probably benign Het
Magel2 A G 7: 62,029,907 (GRCm39) E937G unknown Het
Med13l G A 5: 118,897,329 (GRCm39) probably null Het
Mrgprb8 G A 7: 48,038,892 (GRCm39) V188I probably benign Het
Ocln T C 13: 100,676,223 (GRCm39) D90G probably damaging Het
Ofcc1 C T 13: 40,241,423 (GRCm39) R695Q possibly damaging Het
Or11h23 T A 14: 50,948,563 (GRCm39) Y259N probably damaging Het
Or52ab7 G A 7: 102,978,328 (GRCm39) V212I probably benign Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Pak5 A T 2: 135,939,454 (GRCm39) H560Q probably damaging Het
Pigg T C 5: 108,480,694 (GRCm39) S493P probably damaging Het
Ppp6r3 A G 19: 3,564,719 (GRCm39) W185R probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Sacs T A 14: 61,450,522 (GRCm39) D4189E probably damaging Het
Serpinb9b A G 13: 33,213,467 (GRCm39) N8S possibly damaging Het
Slit3 A G 11: 35,524,779 (GRCm39) T730A possibly damaging Het
Srgap3 A T 6: 112,806,503 (GRCm39) F53I probably damaging Het
Stc2 T A 11: 31,315,351 (GRCm39) K163* probably null Het
Tasor2 T C 13: 3,626,769 (GRCm39) I1060M probably benign Het
Tlk1 T A 2: 70,568,770 (GRCm39) K411* probably null Het
Ttc27 G T 17: 75,036,883 (GRCm39) L185F probably benign Het
Vmn2r102 C T 17: 19,880,694 (GRCm39) Q12* probably null Het
Vmn2r95 C T 17: 18,672,551 (GRCm39) probably benign Het
Vopp1 A G 6: 57,739,492 (GRCm39) Y19H possibly damaging Het
Wdr64 T A 1: 175,638,176 (GRCm39) probably null Het
Other mutations in H2bc12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03331:H2bc12 APN 13 22,220,443 (GRCm39) utr 3 prime probably benign
R0924:H2bc12 UTSW 13 22,220,210 (GRCm39) missense probably damaging 0.98
R6631:H2bc12 UTSW 13 22,220,391 (GRCm39) missense probably damaging 0.96
R7884:H2bc12 UTSW 13 22,220,225 (GRCm39) missense probably damaging 1.00
R8407:H2bc12 UTSW 13 22,220,217 (GRCm39) missense probably damaging 1.00
R9601:H2bc12 UTSW 13 22,220,393 (GRCm39) missense probably benign 0.42
Predicted Primers PCR Primer
(F):5'- ATTTCTACGCCATGCCTGAG -3'
(R):5'- ATTGAGAAGTTTACTTGGCGC -3'

Sequencing Primer
(F):5'- ATGCCTGAGCCTGCGAAGTC -3'
(R):5'- CGCTAGTATACTTGGTGACAGCC -3'
Posted On 2018-08-29