Incidental Mutation 'R1626:H3c8'
ID 172526
Institutional Source Beutler Lab
Gene Symbol H3c8
Ensembl Gene ENSMUSG00000099517
Gene Name H3 clustered histone 8
Synonyms M32460, Hist1h3g, H3.1-221
MMRRC Submission 039663-MU
Accession Numbers
Essential gene? Not available question?
Stock # R1626 (G1)
Quality Score 93
Status Not validated
Chromosome 13
Chromosomal Location 23719588-23720079 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 23719721 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 36 (V36M)
Ref Sequence ENSEMBL: ENSMUSP00000079670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073261] [ENSMUST00000080859] [ENSMUST00000102972]
AlphaFold no structure available at present
PDB Structure STRUCTURE OF THE CHROMODOMAIN FROM MOUSE HP1BETA IN COMPLEX WITH THE LYSINE 9-METHYL HISTONE H3 N-TERMINAL PEPTIDE, NMR, 25 STRUCTURES [SOLUTION NMR]
Crystal structure of the nucleosome core particle containing the histone domain of macroH2A [X-RAY DIFFRACTION]
Crystal structure of RAG2-PHD finger in complex with H3K4me3 peptide [X-RAY DIFFRACTION]
TERNARY COMPLEX OF THE MIXED LINEAGE LEUKAEMIA (MLL1) SET DOMAIN WITH THE COFACTOR PRODUCT S-ADENOSYLHOMOCYSTEINE AND HISTONE PEPTIDE. [X-RAY DIFFRACTION]
Structure of Brdt bromodomain 2 bound to an acetylated histone H3 peptide [X-RAY DIFFRACTION]
WDR5 IN COMPLEX WITH AN RBBP5 PEPTIDE AND HISTONE H3 PEPTIDE [X-RAY DIFFRACTION]
the crystal structure of KDM6B bound with H3K27me3 peptide [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000073261
SMART Domains Protein: ENSMUSP00000072989
Gene: ENSMUSG00000061991

DomainStartEndE-ValueType
H2A 3 123 8.07e-81 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000080859
AA Change: V36M

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000079670
Gene: ENSMUSG00000099517
AA Change: V36M

DomainStartEndE-ValueType
H3 34 136 1.5e-75 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102972
SMART Domains Protein: ENSMUSP00000100037
Gene: ENSMUSG00000060981

DomainStartEndE-ValueType
H4 16 90 2.59e-29 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148743
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198304
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 90.1%
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 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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik T C 10: 21,497,571 (GRCm39) Y71H possibly damaging Het
Acsl6 C A 11: 54,242,872 (GRCm39) P628T probably damaging Het
Ak7 A G 12: 105,734,807 (GRCm39) D591G probably benign Het
Anxa5 T C 3: 36,516,130 (GRCm39) D66G probably damaging Het
Cacna1b G A 2: 24,496,721 (GRCm39) T2283I probably damaging Het
Cand1 A T 10: 119,045,919 (GRCm39) D995E possibly damaging Het
Cblc G T 7: 19,530,427 (GRCm39) A94E probably damaging Het
Cd48 G A 1: 171,509,687 (GRCm39) C9Y probably benign Het
Chd9 A G 8: 91,721,224 (GRCm39) K1004R probably benign Het
Cilk1 A G 9: 78,057,919 (GRCm39) Y156C probably damaging Het
Cldn1 T C 16: 26,190,202 (GRCm39) T59A probably damaging Het
Col11a1 G A 3: 113,925,218 (GRCm39) G17D probably damaging Het
Cpeb1 A G 7: 81,085,995 (GRCm39) V49A probably damaging Het
Cyp4b1 G T 4: 115,498,855 (GRCm39) P109Q probably damaging Het
Dhrs7b T A 11: 60,735,082 (GRCm39) F23I possibly damaging Het
Dnah9 C A 11: 65,976,093 (GRCm39) A1319S probably benign Het
Egf A T 3: 129,479,864 (GRCm39) V553D possibly damaging Het
Fbn1 T C 2: 125,183,199 (GRCm39) D1760G probably damaging Het
Fbxo31 A G 8: 122,286,745 (GRCm39) F178L probably damaging Het
Fstl4 C A 11: 52,891,117 (GRCm39) S85* probably null Het
Gfm1 A G 3: 67,345,977 (GRCm39) Y225C probably damaging Het
Gm10797 A T 10: 67,408,453 (GRCm39) noncoding transcript Het
Heatr4 T A 12: 84,020,495 (GRCm39) I499L probably benign Het
Igfn1 A T 1: 135,896,705 (GRCm39) M1287K probably benign Het
Inpp5b C A 4: 124,677,696 (GRCm39) D385E probably damaging Het
Lrrc9 A G 12: 72,542,435 (GRCm39) probably null Het
Ltb4r1 A G 14: 56,004,699 (GRCm39) M1V probably null Het
Macf1 T C 4: 123,365,327 (GRCm39) I3145V probably benign Het
Man2a2 T C 7: 80,017,450 (GRCm39) N277S probably damaging Het
Megf6 G T 4: 154,261,578 (GRCm39) V68L probably benign Het
Mgat4e A G 1: 134,469,016 (GRCm39) Y343H probably benign Het
Noxred1 T C 12: 87,268,029 (GRCm39) *367W probably null Het
Nup58 A T 14: 60,480,076 (GRCm39) L190* probably null Het
Olfml2a G T 2: 38,841,275 (GRCm39) K270N probably damaging Het
Or5c1 A G 2: 37,222,774 (GRCm39) probably null Het
Or7g32 A G 9: 19,389,495 (GRCm39) L14P probably damaging Het
Phgdh G T 3: 98,223,725 (GRCm39) Q359K probably benign Het
Plpp5 G T 8: 26,212,604 (GRCm39) C200F possibly damaging Het
Pole A C 5: 110,441,235 (GRCm39) I230L probably benign Het
Prtg A T 9: 72,752,193 (GRCm39) D193V probably damaging Het
Ptgs2 G A 1: 149,979,619 (GRCm39) probably null Het
Ptprz1 A T 6: 23,001,573 (GRCm39) Q1221L probably benign Het
Rufy2 T C 10: 62,831,151 (GRCm39) I204T probably benign Het
Rybp A G 6: 100,209,919 (GRCm39) S115P possibly damaging Het
Samd13 A G 3: 146,368,481 (GRCm39) V37A probably benign Het
Secisbp2l T G 2: 125,617,606 (GRCm39) K24Q probably damaging Het
Sorbs2 A G 8: 46,222,891 (GRCm39) Y198C probably damaging Het
Svil T G 18: 5,117,099 (GRCm39) probably null Het
Ttc24 G T 3: 87,977,366 (GRCm39) R127S probably benign Het
Ttn C T 2: 76,588,888 (GRCm39) V21394M probably damaging Het
Tubal3 G T 13: 3,982,841 (GRCm39) C207F probably damaging Het
Vmn2r16 A T 5: 109,511,443 (GRCm39) D550V probably damaging Het
Vmn2r2 T A 3: 64,041,921 (GRCm39) I265F possibly damaging Het
Zfp507 T C 7: 35,494,858 (GRCm39) K62E probably damaging Het
Other mutations in H3c8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3722:H3c8 UTSW 13 23,719,722 (GRCm39) missense possibly damaging 0.90
R6986:H3c8 UTSW 13 23,719,603 (GRCm39) unclassified probably benign
R7991:H3c8 UTSW 13 23,719,887 (GRCm39) missense probably benign 0.00
R8807:H3c8 UTSW 13 23,719,628 (GRCm39) missense probably benign
R9574:H3c8 UTSW 13 23,719,761 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACGCAAGCGTACTTAAAGGCCAAAG -3'
(R):5'- GCACAGGTTGGTGTCCTCAAACAG -3'

Sequencing Primer
(F):5'- TACTTGCCATGGCTCGTACT -3'
(R):5'- AGACCCACGAGGTAGGC -3'
Posted On 2014-04-24