Incidental Mutation 'IGL01728:H3c2'
ID 105374
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H3c2
Ensembl Gene ENSMUSG00000069267
Gene Name H3 clustered histone 2
Synonyms H3-53, Hist1h3b
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01728
Quality Score
Status
Chromosome 13
Chromosomal Location 23936328-23936823 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 23936712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 117 (R117H)
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 probably benign
Transcript: ENSMUST00000091703
AA Change: R117H

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000089295
Gene: ENSMUSG00000069267
AA Change: R117H

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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik A G 1: 53,221,668 (GRCm39) S54P probably benign Het
Adamtsl1 T C 4: 86,029,074 (GRCm39) I71T probably damaging Het
Agbl3 T C 6: 34,759,092 (GRCm39) M1T probably null Het
Ankib1 A G 5: 3,751,992 (GRCm39) probably benign Het
Brinp3 T G 1: 146,707,289 (GRCm39) probably null Het
Chuk T C 19: 44,087,085 (GRCm39) N138S possibly damaging Het
Dock7 G A 4: 98,850,568 (GRCm39) T1588M probably damaging Het
Ehbp1 G A 11: 22,051,115 (GRCm39) T479I probably damaging Het
Gpn2 T C 4: 133,311,813 (GRCm39) I15T possibly damaging Het
Haao A G 17: 84,142,658 (GRCm39) F149S probably damaging Het
Iqsec3 T A 6: 121,389,623 (GRCm39) probably benign Het
Lrrc39 G T 3: 116,373,149 (GRCm39) probably benign Het
Ltbp2 C A 12: 84,837,783 (GRCm39) S1199I probably damaging Het
Mageb3 G T 2: 121,784,941 (GRCm39) P254T probably damaging Het
Mapkbp1 C T 2: 119,854,302 (GRCm39) P1300S probably damaging Het
Mtfmt T A 9: 65,343,100 (GRCm39) L2H probably damaging Het
Myo18a G T 11: 77,668,682 (GRCm39) G181W probably damaging Het
Mzf1 T C 7: 12,785,654 (GRCm39) probably benign Het
Nfatc2 A T 2: 168,378,162 (GRCm39) L280Q probably damaging Het
Nudt15 A G 14: 73,760,736 (GRCm39) probably null Het
Or51k2 T C 7: 103,595,959 (GRCm39) F62S probably damaging Het
Or8b53 A G 9: 38,667,391 (GRCm39) M136V possibly damaging Het
Parp14 A G 16: 35,677,805 (GRCm39) V721A probably damaging Het
Pbp2 G T 6: 135,287,073 (GRCm39) N91K probably damaging Het
Pde7b C A 10: 20,310,210 (GRCm39) probably null Het
Pramel7 C A 2: 87,321,674 (GRCm39) E120D possibly damaging Het
Rbbp5 C T 1: 132,425,818 (GRCm39) T516M probably benign Het
Slc16a12 A G 19: 34,668,071 (GRCm39) V28A possibly damaging Het
Slc6a9 T C 4: 117,721,802 (GRCm39) F276S probably damaging Het
Spata9 A T 13: 76,141,193 (GRCm39) I147L probably benign Het
Tenm4 A T 7: 96,545,271 (GRCm39) Y2429F probably damaging Het
Tmtc1 A G 6: 148,312,564 (GRCm39) S212P probably benign Het
Unc5cl A T 17: 48,766,991 (GRCm39) I122F probably damaging Het
Unc79 T A 12: 103,131,943 (GRCm39) F2350I probably damaging Het
Other mutations in H3c2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R3080:H3c2 UTSW 13 23,936,481 (GRCm39) missense possibly damaging 0.58
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
Posted On 2014-01-21