Incidental Mutation 'R9627:H3c7'
ID 725236
Institutional Source Beutler Lab
Gene Symbol H3c7
Ensembl Gene ENSMUSG00000100210
Gene Name H3 clustered histone 7
Synonyms Hist1h3f, H3.2-221
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.256) question?
Stock # R9627 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 23728222-23729124 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 23728793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 47 (V47L)
Ref Sequence ENSEMBL: ENSMUSP00000074994 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075558] [ENSMUST00000224359]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000075558
AA Change: V47L

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000074994
Gene: ENSMUSG00000100210
AA Change: V47L

DomainStartEndE-ValueType
H3 34 136 2.12e-75 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000224359
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A T 2: 68,487,834 (GRCm39) probably benign Het
Abca14 T C 7: 119,854,530 (GRCm39) V898A probably benign Het
Adamtsl1 A T 4: 86,306,762 (GRCm39) D1400V possibly damaging Het
Akap6 T A 12: 53,151,413 (GRCm39) M1159K Het
Atg13 C A 2: 91,509,098 (GRCm39) G446* probably null Het
Atp6v1g2 G T 17: 35,454,956 (GRCm39) probably null Het
Bmp2k C T 5: 97,201,028 (GRCm39) A316V possibly damaging Het
Ccdc34 AAGA AA 2: 109,871,010 (GRCm39) probably null Het
Cfap251 A G 5: 123,460,557 (GRCm39) D1173G probably benign Het
Cln6 T A 9: 62,754,303 (GRCm39) I115N probably damaging Het
Cma1 T C 14: 56,181,289 (GRCm39) T39A probably benign Het
Cpsf1 A T 15: 76,484,088 (GRCm39) M744K probably damaging Het
Csf1r A G 18: 61,260,972 (GRCm39) Y721C probably damaging Het
Dcaf12 A G 4: 41,293,976 (GRCm39) L387P probably benign Het
Ephb1 T C 9: 101,918,468 (GRCm39) E347G possibly damaging Het
Fig4 T A 10: 41,108,178 (GRCm39) H674L probably benign Het
Foxa3 T A 7: 18,748,458 (GRCm39) K223* probably null Het
Gimap7 T C 6: 48,700,600 (GRCm39) V62A probably damaging Het
Glrx3 T A 7: 137,046,755 (GRCm39) V49E probably benign Het
Greb1 T C 12: 16,756,167 (GRCm39) Y823C probably damaging Het
Hapln4 C A 8: 70,539,520 (GRCm39) R184S possibly damaging Het
Hmcn1 C T 1: 150,506,054 (GRCm39) C3824Y probably damaging Het
Hrnr T C 3: 93,233,235 (GRCm39) S1158P unknown Het
Itln1 A G 1: 171,360,985 (GRCm39) S36P probably benign Het
Kcnh5 A C 12: 75,160,990 (GRCm39) I306S probably damaging Het
Kctd19 T A 8: 106,113,997 (GRCm39) M559L probably benign Het
Kif2a A G 13: 107,158,558 (GRCm39) I9T possibly damaging Het
Klra5 G A 6: 129,883,701 (GRCm39) T142I probably benign Het
Ldlrad3 A G 2: 101,785,423 (GRCm39) V184A probably damaging Het
Lrrc27 T C 7: 138,808,582 (GRCm39) probably benign Het
Mark1 A G 1: 184,646,817 (GRCm39) V340A probably benign Het
Mrps31 T C 8: 22,901,558 (GRCm39) V26A probably benign Het
Mtrr G A 13: 68,725,756 (GRCm39) L118F probably damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Nbas G T 12: 13,350,203 (GRCm39) V285F possibly damaging Het
Nfrkb T C 9: 31,321,189 (GRCm39) L675P possibly damaging Het
Or10v9 T A 19: 11,832,910 (GRCm39) I136F possibly damaging Het
Or1q1 T A 2: 36,887,665 (GRCm39) V281E Het
Or5k15 T A 16: 58,709,771 (GRCm39) I271L probably benign Het
Phkg1 C T 5: 129,893,376 (GRCm39) W358* probably null Het
Plekhj1 A C 10: 80,633,494 (GRCm39) I51S possibly damaging Het
Plxnd1 C T 6: 115,940,274 (GRCm39) R1370Q possibly damaging Het
Prkg2 T C 5: 99,079,869 (GRCm39) *763W probably null Het
Rhobtb2 A G 14: 70,034,349 (GRCm39) F292S probably damaging Het
Rlf A T 4: 121,007,002 (GRCm39) C769* probably null Het
Rmi1 C A 13: 58,557,366 (GRCm39) D538E possibly damaging Het
Scn4a C T 11: 106,212,839 (GRCm39) V1389I probably benign Het
Serpinc1 A T 1: 160,821,101 (GRCm39) K183* probably null Het
Setd4 A T 16: 93,380,562 (GRCm39) M399K possibly damaging Het
Setx T C 2: 29,034,661 (GRCm39) M382T probably damaging Het
Slc6a9 A G 4: 117,721,210 (GRCm39) Y208C probably damaging Het
Slfn2 A T 11: 82,960,367 (GRCm39) K115N Het
Snrk A T 9: 121,966,427 (GRCm39) K117* probably null Het
Spata31 A G 13: 65,065,409 (GRCm39) Y38C possibly damaging Het
Stab2 T C 10: 86,793,704 (GRCm39) T464A probably damaging Het
Tagap1 C T 17: 7,224,327 (GRCm39) G123D probably benign Het
Tas2r136 T C 6: 132,754,948 (GRCm39) K60E possibly damaging Het
Tasor T C 14: 27,194,123 (GRCm39) S1108P probably benign Het
Tmem200b A C 4: 131,649,437 (GRCm39) Y119S probably damaging Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Wwp2 T G 8: 108,278,959 (GRCm39) L578W probably damaging Het
Zfp53 T A 17: 21,728,745 (GRCm39) C259* probably null Het
Other mutations in H3c7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3760:H3c7 UTSW 13 23,728,985 (GRCm39) missense probably damaging 1.00
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
Z1177:H3c7 UTSW 13 23,728,726 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CCAATCAGGAGCATGTTCCTTC -3'
(R):5'- GTTGGTGTCCTCAAACAGACC -3'

Sequencing Primer
(F):5'- CAGGAGCATGTTCCTTCTATAAAAGG -3'
(R):5'- CCACAAGGTAGGCCTCGCTC -3'
Posted On 2022-09-12