Incidental Mutation 'R5210:H3c4'
ID 403102
Institutional Source Beutler Lab
Gene Symbol H3c4
Ensembl Gene ENSMUSG00000099583
Gene Name H3 clustered histone 4
Synonyms H3-b, Hist1h3d
Accession Numbers
Essential gene? Not available question?
Stock # R5210 (G1)
Quality Score 151
Status Not validated
Chromosome 13
Chromosomal Location 23759937-23760440 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 23760015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 14 (G14C)
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 possibly damaging
Transcript: ENSMUST00000105105
AA Change: G14C

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000100737
Gene: ENSMUSG00000099583
AA Change: G14C

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: ENSMUST00000199558
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200671
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (40/41)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 T A 5: 35,994,416 (GRCm39) V342E probably benign Het
Adgre4 T A 17: 56,092,029 (GRCm39) N96K probably damaging Het
Aopep A G 13: 63,215,924 (GRCm39) I399V probably benign Het
Bltp1 T C 3: 37,087,414 (GRCm39) V710A possibly damaging Het
Ccdc171 A G 4: 83,473,093 (GRCm39) E174G probably damaging Het
Col11a1 T C 3: 113,946,806 (GRCm39) F1026S probably damaging Het
Coro1c A G 5: 113,983,367 (GRCm39) L387P probably damaging Het
Dsg1c C T 18: 20,407,758 (GRCm39) T368I probably damaging Het
Exoc3l4 C A 12: 111,395,275 (GRCm39) probably benign Het
Extl1 T C 4: 134,087,895 (GRCm39) D453G probably benign Het
Gm21136 T C 7: 38,567,165 (GRCm39) noncoding transcript Het
Ifi208 T C 1: 173,510,831 (GRCm39) S329P probably benign Het
Iscu T A 5: 113,915,034 (GRCm39) L182* probably null Het
Klra6 T A 6: 129,995,855 (GRCm39) K168* probably null Het
Map3k5 T C 10: 19,900,647 (GRCm39) S274P possibly damaging Het
Megf6 G T 4: 154,354,273 (GRCm39) probably benign Het
Mmp12 T A 9: 7,349,729 (GRCm39) Y53* probably null Het
Nucb2 T A 7: 116,128,222 (GRCm39) Y278N probably damaging Het
Numa1 C A 7: 101,649,188 (GRCm39) A973E probably benign Het
Or1o4 C A 17: 37,590,824 (GRCm39) K162N probably benign Het
Or2w1b A T 13: 21,300,222 (GRCm39) Y120F probably damaging Het
Or5b123 A G 19: 13,596,763 (GRCm39) K79R probably damaging Het
Or7g18 T A 9: 18,787,103 (GRCm39) L157Q probably damaging Het
Pcdhga3 C A 18: 37,808,963 (GRCm39) T472K probably benign Het
Pclo A G 5: 14,763,464 (GRCm39) D694G probably damaging Het
Plch1 A G 3: 63,607,199 (GRCm39) probably null Het
Pou3f2 C T 4: 22,487,324 (GRCm39) D270N probably damaging Het
Prrc2a G A 17: 35,372,596 (GRCm39) R1682W probably damaging Het
Rb1 A G 14: 73,436,751 (GRCm39) F838S probably damaging Het
Sec24c A G 14: 20,741,872 (GRCm39) E769G probably damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Tmem63c A T 12: 87,136,172 (GRCm39) E796V probably benign Het
Tomm70a G A 16: 56,953,614 (GRCm39) probably null Het
Tpcn1 G A 5: 120,677,279 (GRCm39) T676I probably damaging Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Other mutations in H3c4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5197:H3c4 UTSW 13 23,760,304 (GRCm39) missense probably damaging 1.00
R5211:H3c4 UTSW 13 23,760,015 (GRCm39) missense possibly damaging 0.55
R5552:H3c4 UTSW 13 23,760,295 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCCTGGAGAGATATTAGCAAATC -3'
(R):5'- AGGTCGGTCTTGAAGTCCTG -3'

Sequencing Primer
(F):5'- TATATGTACTCCGGCCAC -3'
(R):5'- TTGAAGTCCTGCGCGATC -3'
Posted On 2016-07-22