Incidental Mutation 'R6272:H3c6'
ID 507415
Institutional Source Beutler Lab
Gene Symbol H3c6
Ensembl Gene ENSMUSG00000069273
Gene Name H3 clustered histone 6
Synonyms H3.1, H3-f, Hist1h3e
MMRRC Submission 044442-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R6272 (G1)
Quality Score 215.009
Status Not validated
Chromosome 13
Chromosomal Location 23745708-23746543 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 23746400 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 47 (V47E)
Ref Sequence ENSEMBL: ENSMUSP00000100739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045301] [ENSMUST00000105107]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000045301
SMART Domains Protein: ENSMUSP00000044395
Gene: ENSMUSG00000052565

DomainStartEndE-ValueType
H15 35 100 4.02e-23 SMART
low complexity region 110 221 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105107
AA Change: V47E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000100739
Gene: ENSMUSG00000069273
AA Change: V47E

DomainStartEndE-ValueType
H3 34 136 2.12e-75 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.3%
Validation Efficiency 98% (55/56)
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 is intronless and encodes a replication-dependent histone that is a member of the histone H3 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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 A T 5: 50,166,791 (GRCm39) M187K possibly damaging Het
Adgrg3 A G 8: 95,762,889 (GRCm39) I189V noncoding transcript Het
Ampd1 A G 3: 102,992,699 (GRCm39) K147R possibly damaging Het
Apbb2 T C 5: 66,468,415 (GRCm39) T561A probably damaging Het
Arfgef3 A T 10: 18,522,711 (GRCm39) D438E probably benign Het
Atxn1 T A 13: 45,721,238 (GRCm39) Q219L possibly damaging Het
AW551984 A T 9: 39,509,333 (GRCm39) D269E probably benign Het
Cryab A G 9: 50,665,825 (GRCm39) K72R possibly damaging Het
Dbn1 G A 13: 55,622,917 (GRCm39) A522V probably benign Het
Dip2a A T 10: 76,122,241 (GRCm39) *158R probably null Het
Edrf1 C T 7: 133,239,537 (GRCm39) probably benign Het
Ern2 A T 7: 121,775,869 (GRCm39) D408E probably benign Het
F830016B08Rik T C 18: 60,433,150 (GRCm39) S78P probably damaging Het
Fah C A 7: 84,244,753 (GRCm39) G137C probably damaging Het
Foxd3 A G 4: 99,544,977 (GRCm39) D39G probably damaging Het
Gprin3 G A 6: 59,330,316 (GRCm39) Q664* probably null Het
H2-Ob T C 17: 34,461,618 (GRCm39) I119T probably benign Het
Hmgcll1 G A 9: 76,037,627 (GRCm39) G174R probably damaging Het
Kbtbd11 T A 8: 15,079,118 (GRCm39) C572* probably null Het
Kynu A T 2: 43,525,001 (GRCm39) N315Y probably benign Het
Map1lc3b G A 8: 122,323,429 (GRCm39) E100K probably benign Het
Matn2 T A 15: 34,355,753 (GRCm39) Q33L possibly damaging Het
Mettl8 T C 2: 70,806,419 (GRCm39) probably null Het
Neto1 A T 18: 86,512,940 (GRCm39) N312Y probably damaging Het
Nhsl1 A G 10: 18,400,253 (GRCm39) D493G probably benign Het
Nup210l A G 3: 90,077,331 (GRCm39) E889G possibly damaging Het
Or13l2 A G 3: 97,318,207 (GRCm39) F97L probably benign Het
Or14c42-ps1 A G 7: 86,211,081 (GRCm39) Y47C unknown Het
Or2y13 C A 11: 49,414,953 (GRCm39) S134R possibly damaging Het
Or5ac25 A C 16: 59,181,948 (GRCm39) M211R possibly damaging Het
Or5w20 G A 2: 87,727,001 (GRCm39) V153I probably benign Het
Or6k2 C T 1: 173,986,741 (GRCm39) T134I probably benign Het
Or8g4 A T 9: 39,661,816 (GRCm39) M45L probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Phc2 A G 4: 128,603,440 (GRCm39) Y190C probably damaging Het
Platr25 T C 13: 62,820,811 (GRCm39) T347A possibly damaging Het
Plec T C 15: 76,059,053 (GRCm39) E3655G probably damaging Het
Plekhg3 A T 12: 76,623,619 (GRCm39) Q954L probably benign Het
Pnpla1 G A 17: 29,100,342 (GRCm39) G403E probably benign Het
Prdm4 G A 10: 85,743,694 (GRCm39) T187I possibly damaging Het
Prg4 T C 1: 150,330,517 (GRCm39) probably benign Het
Prpf18 G A 2: 4,638,258 (GRCm39) R312W probably damaging Het
Rnf213 T A 11: 119,305,374 (GRCm39) V535D probably damaging Het
Rtcb A T 10: 85,791,638 (GRCm39) N39K probably damaging Het
Slc4a3 G A 1: 75,531,341 (GRCm39) probably null Het
Szt2 A C 4: 118,231,487 (GRCm39) probably benign Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Tfap2e A T 4: 126,615,657 (GRCm39) V259D probably damaging Het
Trav19 A G 14: 54,083,255 (GRCm39) D110G probably damaging Het
Ttc17 A C 2: 94,189,100 (GRCm39) C749W probably damaging Het
Ttc8 A G 12: 98,948,753 (GRCm39) K490E possibly damaging Het
Ube4b A G 4: 149,471,590 (GRCm39) S99P probably damaging Het
Ubqln3 C T 7: 103,791,385 (GRCm39) R235H probably damaging Het
Vmn2r61 A T 7: 41,949,242 (GRCm39) D554V probably damaging Het
Vmn2r70 A T 7: 85,208,194 (GRCm39) V761E probably damaging Het
Vmn2r97 T C 17: 19,167,861 (GRCm39) I705T possibly damaging Het
Wwox G A 8: 115,215,692 (GRCm39) C155Y probably damaging Het
Zfp451 T C 1: 33,842,325 (GRCm39) probably benign Het
Zfp582 C T 7: 6,356,844 (GRCm39) P219L probably damaging Het
Other mutations in H3c6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01082:H3c6 APN 13 23,746,548 (GRCm39) unclassified probably benign
R1542:H3c6 UTSW 13 23,746,338 (GRCm39) missense probably damaging 0.98
R2145:H3c6 UTSW 13 23,746,530 (GRCm39) missense probably benign
R8958:H3c6 UTSW 13 23,746,421 (GRCm39) missense possibly damaging 0.58
Predicted Primers PCR Primer
(F):5'- AGGTTGGTGTCCTCAAACAGAC -3'
(R):5'- CAATCAGAGCGACGCATTTC -3'

Sequencing Primer
(F):5'- GTGTCCTCAAACAGACCCACG -3'
(R):5'- GCGACGCATTTCCAGCATAAATAG -3'
Posted On 2018-03-15