Incidental Mutation 'R3080:H3c2'
ID 265394
Institutional Source Beutler Lab
Gene Symbol H3c2
Ensembl Gene ENSMUSG00000069267
Gene Name H3 clustered histone 2
Synonyms H3-53, Hist1h3b
MMRRC Submission 040570-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3080 (G1)
Quality Score 85
Status Not validated
Chromosome 13
Chromosomal Location 23936328-23936823 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23936481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 40 (H40R)
Ref Sequence ENSEMBL: ENSMUSP00000089295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078369] [ENSMUST00000091703] [ENSMUST00000102965]
AlphaFold P84228
Predicted Effect probably benign
Transcript: ENSMUST00000078369
SMART Domains Protein: ENSMUSP00000077477
Gene: ENSMUSG00000061615

DomainStartEndE-ValueType
H2A 3 123 8.07e-81 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000091703
AA Change: H40R

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000089295
Gene: ENSMUSG00000069267
AA Change: H40R

DomainStartEndE-ValueType
H3 34 136 2.12e-75 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102965
SMART Domains Protein: ENSMUSP00000100030
Gene: ENSMUSG00000069266

DomainStartEndE-ValueType
H4 16 90 2.59e-29 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199873
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amer3 T G 1: 34,627,503 (GRCm39) L581V probably benign Het
Anks4b A T 7: 119,781,146 (GRCm39) D59V probably damaging Het
Cdc42bpb A G 12: 111,262,252 (GRCm39) I75T probably damaging Het
Ces1c A C 8: 93,846,975 (GRCm39) L93R probably damaging Het
Ciao2b G C 8: 105,368,259 (GRCm39) R22G possibly damaging Het
Clca4a T A 3: 144,669,551 (GRCm39) K333N probably damaging Het
Copa G T 1: 171,940,716 (GRCm39) D710Y probably damaging Het
Cyp3a25 T A 5: 145,935,341 (GRCm39) I92F probably benign Het
Dcx T A X: 142,706,266 (GRCm39) D175V probably damaging Het
Fam76b G A 9: 13,744,458 (GRCm39) G185D probably benign Het
Fastkd5 T C 2: 130,457,373 (GRCm39) M406V possibly damaging Het
Fbn2 G A 18: 58,282,122 (GRCm39) S298L probably damaging Het
Gak T C 5: 108,761,468 (GRCm39) K188E possibly damaging Het
Gemin2 G A 12: 59,071,877 (GRCm39) C230Y probably damaging Het
Gm5150 A C 3: 16,045,085 (GRCm39) S47A possibly damaging Het
Herc3 A T 6: 58,833,631 (GRCm39) probably null Het
Ighv5-6 T A 12: 113,589,237 (GRCm39) D81V probably damaging Het
Igkv13-54-1 A G 6: 69,594,454 (GRCm39) probably null Het
Itgad T C 7: 127,784,959 (GRCm39) I288T possibly damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Ltbp3 GTA GTATA 19: 5,806,916 (GRCm39) probably null Het
Map4k2 G A 19: 6,403,218 (GRCm39) E774K probably damaging Het
Mbtps1 A G 8: 120,257,944 (GRCm39) V431A probably benign Het
Mbtps1 T C 8: 120,265,602 (GRCm39) D315G probably damaging Het
Nebl A G 2: 17,381,462 (GRCm39) V738A possibly damaging Het
Npr3 G C 15: 11,905,235 (GRCm39) T164R probably benign Het
Or14j4 T C 17: 37,921,169 (GRCm39) T158A probably benign Het
Or6d14 T G 6: 116,534,178 (GRCm39) V264G probably damaging Het
Pcdhb3 T G 18: 37,434,535 (GRCm39) L167R probably damaging Het
Pcdhb8 A T 18: 37,489,219 (GRCm39) E299V probably damaging Het
Shcbp1l A G 1: 153,311,783 (GRCm39) E312G possibly damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc1a2 T G 2: 102,578,901 (GRCm39) L272R probably damaging Het
Slc35a5 A T 16: 44,964,758 (GRCm39) S152T probably benign Het
Tas2r136 C A 6: 132,754,972 (GRCm39) V52L probably damaging Het
Tbr1 C T 2: 61,637,635 (GRCm39) Q65* probably null Het
Tro G A X: 149,438,198 (GRCm39) T153I probably benign Het
Vmn1r222 A G 13: 23,416,631 (GRCm39) M194T possibly damaging Het
Vmn2r1 A G 3: 63,997,205 (GRCm39) D287G probably damaging Het
Vmn2r91 T G 17: 18,355,973 (GRCm39) probably null Het
Zfp35 T A 18: 24,136,367 (GRCm39) I237N probably damaging Het
Other mutations in H3c2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01728:H3c2 APN 13 23,936,712 (GRCm39) missense probably benign 0.35
R0158:H3c2 UTSW 13 23,936,693 (GRCm39) missense probably damaging 0.98
R1836:H3c2 UTSW 13 23,936,715 (GRCm39) missense probably damaging 1.00
R4439:H3c2 UTSW 13 23,936,708 (GRCm39) splice site probably null
R5138:H3c2 UTSW 13 23,936,613 (GRCm39) missense probably damaging 0.99
R6782:H3c2 UTSW 13 23,936,393 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTCCAATAGCGGATAGTCTGATTG -3'
(R):5'- TTGGTGTCCTCAAACAGACCC -3'

Sequencing Primer
(F):5'- TCTGATTGTATAAAAGGTGGACAGC -3'
(R):5'- ACAAGGTAGGCCTCGCTC -3'
Posted On 2015-02-05