Incidental Mutation 'R9112:H2bc6'
ID 692324
Institutional Source Beutler Lab
Gene Symbol H2bc6
Ensembl Gene ENSMUSG00000047246
Gene Name H2B clustered histone 6
Synonyms Hist1h2be
MMRRC Submission
Accession Numbers
Essential gene? Not available question?
Stock # R9112 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 23767653-23805091 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23769753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 63 (M63V)
Ref Sequence ENSEMBL: ENSMUSP00000061247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051091] [ENSMUST00000091704] [ENSMUST00000102968]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000051091
AA Change: M63V

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000061247
Gene: ENSMUSG00000047246
AA Change: M63V

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
H2B 28 124 1.43e-72 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000091704
AA Change: M63V

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000089296
Gene: ENSMUSG00000047246
AA Change: M63V

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
H2B 28 124 1.43e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102968
SMART Domains Protein: ENSMUSP00000100033
Gene: ENSMUSG00000061482

DomainStartEndE-ValueType
H4 16 90 2.59e-29 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (56/56)
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 multiple transcripts through alternative splicing, the use of the conserved stem-loop termination motif, and the polyA addition motif. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,100,806 (GRCm39) S181G possibly damaging Het
5730596B20Rik A G 6: 52,156,413 (GRCm39) R160G unknown Het
Acy1 A G 9: 106,311,952 (GRCm39) Y262H probably benign Het
Adamts13 T C 2: 26,880,379 (GRCm39) S681P possibly damaging Het
Adgra3 C A 5: 50,118,395 (GRCm39) C1051F probably damaging Het
Afp T C 5: 90,652,289 (GRCm39) probably null Het
Agrn A T 4: 156,261,514 (GRCm39) V568E probably damaging Het
Ahnak A G 19: 8,987,149 (GRCm39) E2811G probably damaging Het
Ap1m1 C A 8: 72,994,066 (GRCm39) Y7* probably null Het
Apobec1 T A 6: 122,555,837 (GRCm39) T207S probably benign Het
Arhgap32 G A 9: 32,157,309 (GRCm39) R102Q probably damaging Het
Bcat2 T C 7: 45,237,446 (GRCm39) probably null Het
Cd209f T A 8: 4,155,802 (GRCm39) probably benign Het
Cox7c G A 13: 86,194,837 (GRCm39) probably benign Het
Cyp2d11 A G 15: 82,276,203 (GRCm39) V156A possibly damaging Het
Dhrs3 A T 4: 144,653,769 (GRCm39) T297S probably benign Het
Dip2c T C 13: 9,660,766 (GRCm39) C876R probably damaging Het
Eprs1 A T 1: 185,129,273 (GRCm39) I587F probably damaging Het
Fam13c A G 10: 70,286,978 (GRCm39) T81A probably benign Het
Flt4 A G 11: 49,524,064 (GRCm39) Y548C probably damaging Het
Garin2 T C 12: 78,757,202 (GRCm39) probably null Het
Gimap4 T A 6: 48,667,629 (GRCm39) V128E probably benign Het
Gm32742 A G 9: 51,060,735 (GRCm39) L856P possibly damaging Het
Gm5916 A G 9: 36,032,258 (GRCm39) Y59H probably damaging Het
Gnai3 A T 3: 108,030,990 (GRCm39) H57Q Het
Golga3 G T 5: 110,333,757 (GRCm39) R131L probably benign Het
Gpc6 A T 14: 117,424,088 (GRCm39) I59F probably benign Het
Herc6 T C 6: 57,596,604 (GRCm39) S515P probably damaging Het
Ift74 T C 4: 94,575,103 (GRCm39) I518T probably benign Het
Kat6b T C 14: 21,675,256 (GRCm39) S474P possibly damaging Het
Klhl3 A C 13: 58,248,212 (GRCm39) I28S unknown Het
Klrh1 T A 6: 129,743,697 (GRCm39) I196F probably benign Het
Lipi A G 16: 75,359,159 (GRCm39) F259S probably damaging Het
Lrrc8a T A 2: 30,145,782 (GRCm39) S199T probably damaging Het
Map2 T A 1: 66,472,723 (GRCm39) C1709* probably null Het
Mrgprf A G 7: 144,861,503 (GRCm39) S22G probably benign Het
Myo1e G T 9: 70,274,983 (GRCm39) R712L probably benign Het
Nras A T 3: 102,967,658 (GRCm39) N85Y probably benign Het
Or4a71 C T 2: 89,358,337 (GRCm39) C139Y probably damaging Het
Or5b3 A T 19: 13,388,475 (GRCm39) I181F probably benign Het
Or6ae1 A G 7: 139,742,660 (GRCm39) S68P Het
Or9q2 T C 19: 13,772,780 (GRCm39) H65R probably damaging Het
Pcp2 T A 8: 3,674,638 (GRCm39) probably benign Het
Pigv T C 4: 133,392,079 (GRCm39) R364G probably benign Het
Plekhh3 T A 11: 101,061,625 (GRCm39) S30C probably damaging Het
Poglut3 A G 9: 53,295,530 (GRCm39) Y44C probably damaging Het
Pramel11 A C 4: 143,623,334 (GRCm39) V280G possibly damaging Het
Pramel51 C T 12: 88,144,055 (GRCm39) A261T possibly damaging Het
Rhof T C 5: 123,258,571 (GRCm39) probably benign Het
Rufy3 A T 5: 88,780,336 (GRCm39) E361D Het
Serpina1b T C 12: 103,698,699 (GRCm39) D50G probably benign Het
Sgsm2 G A 11: 74,756,222 (GRCm39) Q376* probably null Het
Slc18b1 A T 10: 23,692,262 (GRCm39) I246F probably damaging Het
Slc38a9 A T 13: 112,850,777 (GRCm39) N387I probably damaging Het
Synrg C G 11: 83,862,409 (GRCm39) P35A probably damaging Het
Tdrp T C 8: 14,005,796 (GRCm39) K42E probably damaging Het
Trappc10 A C 10: 78,029,201 (GRCm39) M1112R probably damaging Het
Ube2e1 A G 14: 18,285,203 (GRCm38) V90A probably damaging Het
Vwde C A 6: 13,205,051 (GRCm39) V277F possibly damaging Het
Zfyve16 A G 13: 92,659,563 (GRCm39) M116T possibly damaging Het
Other mutations in H2bc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6365:H2bc6 UTSW 13 23,769,641 (GRCm39) missense probably benign 0.01
R7326:H2bc6 UTSW 13 23,769,906 (GRCm39) missense probably benign 0.09
R7501:H2bc6 UTSW 13 23,769,776 (GRCm39) missense possibly damaging 0.56
R7776:H2bc6 UTSW 13 23,769,938 (GRCm39) start codon destroyed probably null
Predicted Primers PCR Primer
(F):5'- GTACTTGGTGACAGCCTTGG -3'
(R):5'- GTTCACAGCAGCTCACTTTC -3'

Sequencing Primer
(F):5'- TGACAGCCTTGGTGCCCTC -3'
(R):5'- ATCTGAAGATGCCTGAGCCAGC -3'
Posted On 2021-12-30