Incidental Mutation 'R3760:H3c7'
ID 270513
Institutional Source Beutler Lab
Gene Symbol H3c7
Ensembl Gene ENSMUSG00000100210
Gene Name H3 clustered histone 7
Synonyms Hist1h3f, H3.2-221
MMRRC Submission 040740-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.256) question?
Stock # R3760 (G1)
Quality Score 124
Status Validated
Chromosome 13
Chromosomal Location 23728222-23729124 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23728985 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 111 (C111R)
Ref Sequence ENSEMBL: ENSMUSP00000074994 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075558] [ENSMUST00000224359]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000075558
AA Change: C111R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074994
Gene: ENSMUSG00000100210
AA Change: C111R

DomainStartEndE-ValueType
H3 34 136 2.12e-75 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000224359
Meta Mutation Damage Score 0.5900 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (33/33)
MGI Phenotype FUNCTION: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin 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; instead, they contain a palindromic termination element. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl2 T C 3: 148,522,871 (GRCm39) E1448G probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Ct45a C T X: 55,590,568 (GRCm39) V78I probably benign Het
Ell2 A T 13: 75,910,281 (GRCm39) Q163L probably benign Het
Epha6 T A 16: 60,041,347 (GRCm39) T423S possibly damaging Het
Fhad1 T C 4: 141,637,124 (GRCm39) E1114G probably damaging Het
Gpr83 A T 9: 14,772,034 (GRCm39) T69S probably benign Het
Gramd1c A T 16: 43,818,154 (GRCm39) M342K probably damaging Het
Idua T C 5: 108,817,978 (GRCm39) probably benign Het
Kcnh1 T C 1: 192,188,332 (GRCm39) L931P probably damaging Het
Map2 T A 1: 66,478,077 (GRCm39) S470T probably damaging Het
Map7 T C 10: 20,152,027 (GRCm39) probably benign Het
Obscn A G 11: 58,919,406 (GRCm39) L6213P probably damaging Het
Or5b109 T C 19: 13,212,250 (GRCm39) L212P probably damaging Het
Or8k38 G A 2: 86,488,232 (GRCm39) S190L possibly damaging Het
Pcnx4 C T 12: 72,613,780 (GRCm39) T575M probably damaging Het
Ppp1r12a A G 10: 108,100,595 (GRCm39) D348G probably damaging Het
Prrc2c T C 1: 162,520,420 (GRCm39) N730S probably damaging Het
Serpinb3d C T 1: 107,009,304 (GRCm39) probably benign Het
Skint6 T C 4: 112,794,655 (GRCm39) T705A possibly damaging Het
Slc6a20a A G 9: 123,492,054 (GRCm39) I50T probably damaging Het
Taf13 T C 3: 108,485,424 (GRCm39) probably benign Het
Tlr11 A T 14: 50,599,700 (GRCm39) E562V probably damaging Het
Uhrf2 T C 19: 30,051,331 (GRCm39) S302P probably benign Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Unc79 T A 12: 103,058,964 (GRCm39) L1036Q probably damaging Het
Vmn1r85 A T 7: 12,818,932 (GRCm39) S71T probably damaging Het
Vmn2r-ps158 G A 7: 42,673,502 (GRCm39) E187K probably benign Het
Vps52 T C 17: 34,179,162 (GRCm39) F200L possibly damaging Het
Zfp521 T C 18: 13,977,686 (GRCm39) H909R possibly damaging Het
Other mutations in H3c7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4655:H3c7 UTSW 13 23,728,923 (GRCm39) missense probably benign 0.08
R6288:H3c7 UTSW 13 23,728,664 (GRCm39) missense probably benign
R6860:H3c7 UTSW 13 23,728,760 (GRCm39) missense probably benign 0.11
R9627:H3c7 UTSW 13 23,728,793 (GRCm39) missense possibly damaging 0.51
Z1177:H3c7 UTSW 13 23,728,726 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TGGCTCGTACTAAGCAGACC -3'
(R):5'- GGTGGTGCTCATCATTGTCAAG -3'

Sequencing Primer
(F):5'- GGCGTGAAGAAACCTCACCG -3'
(R):5'- GTGCTCATCATTGTCAAGAAAGGC -3'
Posted On 2015-03-18