Incidental Mutation 'R5552:H3c4'
ID 435191
Institutional Source Beutler Lab
Gene Symbol H3c4
Ensembl Gene ENSMUSG00000099583
Gene Name H3 clustered histone 4
Synonyms H3-b, Hist1h3d
MMRRC Submission 043109-MU
Accession Numbers
Essential gene? Not available question?
Stock # R5552 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 23759937-23760440 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23760295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 107 (D107G)
Ref Sequence ENSEMBL: ENSMUSP00000100737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079251] [ENSMUST00000090776] [ENSMUST00000102969] [ENSMUST00000105105] [ENSMUST00000105106]
AlphaFold no structure available at present
PDB Structure Crystal structure of RAG2-PHD finger in complex with H3R2me2aK4me3 peptide [X-RAY DIFFRACTION]
Crystal structure of RAG2-PHD finger in complex with H3R2me2sK4me3 peptide [X-RAY DIFFRACTION]
Crystal structure of RAG2-PHD finger in complex with H3R2me2sK4me2 peptide [X-RAY DIFFRACTION]
Histone demethylase KDM2A-H3K36ME1-alpha-KG complex structure [X-RAY DIFFRACTION]
Crystal structure of histone demethylase kdm2a-h3k36me2 with alpha-kg [X-RAY DIFFRACTION]
Crystal structure of histone demethylase kdm2a-h3k36me3 complex with alpha-kg [X-RAY DIFFRACTION]
crystal structure of histone demethylase KDM2A-H3K36ME3 with NOG [X-RAY DIFFRACTION]
Crystal structure of histone demethylase KDM2A-H3K36ME2 with NOG [X-RAY DIFFRACTION]
Crystal structure of histone demethylase KDM2A-H3K36ME1 with NOG [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000079251
SMART Domains Protein: ENSMUSP00000078239
Gene: ENSMUSG00000058385

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
H2B 28 124 1.43e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000090776
SMART Domains Protein: ENSMUSP00000088281
Gene: ENSMUSG00000071478

DomainStartEndE-ValueType
H2A 3 123 8.07e-81 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102969
SMART Domains Protein: ENSMUSP00000100034
Gene: ENSMUSG00000069272

DomainStartEndE-ValueType
H2A 3 123 8.07e-81 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105105
AA Change: D107G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100737
Gene: ENSMUSG00000099583
AA Change: D107G

DomainStartEndE-ValueType
H3 34 136 2.12e-75 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105106
SMART Domains Protein: ENSMUSP00000100738
Gene: ENSMUSG00000069268

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
H2B 28 124 4.64e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200671
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
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 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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A G 6: 88,813,530 (GRCm39) Y403H probably benign Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Arhgap19 T C 19: 41,772,819 (GRCm39) I291M probably benign Het
Blzf1 A T 1: 164,130,058 (GRCm39) I91N probably damaging Het
Cdh2 T C 18: 16,773,520 (GRCm39) T270A possibly damaging Het
Chd5 T A 4: 152,470,272 (GRCm39) M1906K possibly damaging Het
Cpsf1 T C 15: 76,483,846 (GRCm39) D799G probably benign Het
Csnk1g3 T C 18: 54,065,355 (GRCm39) F313L probably benign Het
Cyfip1 T C 7: 55,521,855 (GRCm39) V53A possibly damaging Het
Dcst1 T C 3: 89,272,373 (GRCm39) D30G probably benign Het
Dlgap2 G T 8: 14,881,342 (GRCm39) G805* probably null Het
Dot1l CCAGCCCCACCCTCAGCC CCAGCC 10: 80,619,462 (GRCm39) probably benign Het
Epha8 T C 4: 136,659,210 (GRCm39) N843S probably damaging Het
Evi5 A T 5: 107,966,855 (GRCm39) V222E probably damaging Het
Gli1 C A 10: 127,166,131 (GRCm39) A1041S probably benign Het
Glipr1l1 A T 10: 111,898,243 (GRCm39) Q116L probably benign Het
Hectd4 T A 5: 121,480,914 (GRCm39) L2985Q possibly damaging Het
Hk2 G T 6: 82,707,804 (GRCm39) R694S possibly damaging Het
Htt A G 5: 34,979,118 (GRCm39) M834V probably benign Het
Itpr2 A G 6: 146,195,578 (GRCm39) Y1600H probably benign Het
Med1 A T 11: 98,057,157 (GRCm39) Y340* probably null Het
Mov10l1 T A 15: 88,938,569 (GRCm39) probably null Het
Mrc1 T C 2: 14,284,768 (GRCm39) F586L probably benign Het
Mrrf T A 2: 36,037,973 (GRCm39) D81E possibly damaging Het
Nod1 A G 6: 54,921,616 (GRCm39) F234S probably damaging Het
Odad2 A G 18: 7,285,360 (GRCm39) V267A possibly damaging Het
Or10ak9 T A 4: 118,726,665 (GRCm39) I228N probably damaging Het
Or6c69c T C 10: 129,911,014 (GRCm39) V245A probably damaging Het
Pde4a T C 9: 21,112,682 (GRCm39) V343A probably damaging Het
Pmfbp1 T A 8: 110,258,383 (GRCm39) L649Q probably damaging Het
Polq A G 16: 36,914,872 (GRCm39) I2511V possibly damaging Het
Pramel51 T A 12: 88,145,135 (GRCm39) T64S probably benign Het
Serac1 T A 17: 6,106,967 (GRCm39) R361* probably null Het
Serpina3g T C 12: 104,206,595 (GRCm39) V132A probably damaging Het
Thada A C 17: 84,736,558 (GRCm39) S908A probably benign Het
Zfp280b C T 10: 75,875,497 (GRCm39) Q459* probably null Het
Other mutations in H3c4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5197:H3c4 UTSW 13 23,760,304 (GRCm39) missense probably damaging 1.00
R5210:H3c4 UTSW 13 23,760,015 (GRCm39) missense possibly damaging 0.55
R5211:H3c4 UTSW 13 23,760,015 (GRCm39) missense possibly damaging 0.55
Predicted Primers PCR Primer
(F):5'- TGAAGAAGCCTCACCGCTAC -3'
(R):5'- ACAGGCGTTAAAGGATATTACAGAC -3'

Sequencing Primer
(F):5'- TCACCGCTACCGTCCCG -3'
(R):5'- CAAGTAATGGAGTTGCTGAGTG -3'
Posted On 2016-10-24