Incidental Mutation 'R5211:H3c4'
ID 403144
Institutional Source Beutler Lab
Gene Symbol H3c4
Ensembl Gene ENSMUSG00000099583
Gene Name H3 clustered histone 4
Synonyms H3-b, Hist1h3d
MMRRC Submission 042785-MU
Accession Numbers
Essential gene? Not available question?
Stock # R5211 (G1)
Quality Score 212
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
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik A G 14: 70,394,233 (GRCm39) S181P probably benign Het
Adgrf5 A T 17: 43,733,511 (GRCm39) T112S probably benign Het
Ascc2 T C 11: 4,623,399 (GRCm39) V545A possibly damaging Het
Bmp2 A T 2: 133,396,550 (GRCm39) S69C probably damaging Het
Btaf1 T A 19: 36,973,962 (GRCm39) I1378K probably benign Het
Ces2b C T 8: 105,561,695 (GRCm39) T263I possibly damaging Het
Cntn5 A T 9: 9,704,894 (GRCm39) V635D possibly damaging Het
Dock6 T C 9: 21,731,648 (GRCm39) E1218G probably benign Het
Eml6 T C 11: 29,804,145 (GRCm39) I319V probably benign Het
Esd T C 14: 74,978,632 (GRCm39) S65P probably damaging Het
Exoc1l C A 5: 76,664,250 (GRCm39) T113K possibly damaging Het
Fstl3 A T 10: 79,616,012 (GRCm39) Q166L probably benign Het
Garin1a A T 6: 29,286,098 (GRCm39) K128* probably null Het
Gcn1 T A 5: 115,757,371 (GRCm39) S2445T probably benign Het
Gfy C A 7: 44,827,282 (GRCm39) L271F possibly damaging Het
Gjc2 A G 11: 59,068,284 (GRCm39) V66A possibly damaging Het
Itm2c T A 1: 85,834,249 (GRCm39) V188E probably damaging Het
Jmjd1c C G 10: 67,067,795 (GRCm39) S1766C probably damaging Het
Kcnn3 A G 3: 89,428,538 (GRCm39) T255A probably benign Het
Kdm4d A C 9: 14,374,400 (GRCm39) V486G probably benign Het
Krt18 T G 15: 101,939,888 (GRCm39) I362S probably damaging Het
Lrrc8d G A 5: 105,961,606 (GRCm39) R672Q probably damaging Het
Ly6f G A 15: 75,143,652 (GRCm39) V120M probably damaging Het
Map3k4 A G 17: 12,451,321 (GRCm39) V1524A possibly damaging Het
Mrgprh T C 17: 13,095,889 (GRCm39) V43A probably benign Het
Mx2 A T 16: 97,348,633 (GRCm39) M269L probably damaging Het
Myrfl C T 10: 116,634,535 (GRCm39) V620I probably benign Het
Nlrp9b G A 7: 19,783,381 (GRCm39) C908Y probably damaging Het
Nyap2 T A 1: 81,064,991 (GRCm39) M1K probably null Het
Olfml3 A T 3: 103,644,515 (GRCm39) H51Q probably benign Het
Or11h6 C T 14: 50,880,710 (GRCm39) T324I possibly damaging Het
Pcdhb1 G A 18: 37,399,704 (GRCm39) V552I probably benign Het
Pm20d1 T A 1: 131,734,647 (GRCm39) I353N possibly damaging Het
Sbk2 A G 7: 4,965,966 (GRCm39) F73L possibly damaging Het
Scn10a A C 9: 119,490,298 (GRCm39) L548R possibly damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Slmap T C 14: 26,204,117 (GRCm39) Y68C probably damaging Het
Syde2 T C 3: 145,707,093 (GRCm39) V611A probably benign Het
Sympk A G 7: 18,769,814 (GRCm39) M164V probably benign Het
Syt17 T C 7: 118,041,626 (GRCm39) S43G probably benign Het
Ubr1 T C 2: 120,723,651 (GRCm39) T1303A possibly damaging Het
Vmn2r100 A G 17: 19,746,257 (GRCm39) Y535C possibly damaging 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
R5552:H3c4 UTSW 13 23,760,295 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCTGGAGAGATATTAGCAAATCTAC -3'
(R):5'- AGGTCGGTCTTGAAGTCCTG -3'

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