Incidental Mutation 'IGL03126:H3c3'
ID 410164
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H3c3
Ensembl Gene ENSMUSG00000069310
Gene Name H3 clustered histone 3
Synonyms H3-143, Hist1h3c
Accession Numbers
Essential gene? Not available question?
Stock # IGL03126
Quality Score
Status
Chromosome 13
Chromosomal Location 23929025-23929504 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23929425 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 19 (K19R)
Ref Sequence ENSEMBL: ENSMUSP00000089346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091752] [ENSMUST00000099703]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000091752
AA Change: K19R

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000089346
Gene: ENSMUSG00000069310
AA Change: K19R

DomainStartEndE-ValueType
H3 34 136 2.12e-75 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000099703
SMART Domains Protein: ENSMUSP00000097294
Gene: ENSMUSG00000075031

DomainStartEndE-ValueType
H2B 28 124 4.64e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118168
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199263
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. 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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,617,563 (GRCm39) N562S probably benign Het
Abi1 A G 2: 22,843,479 (GRCm39) V316A probably benign Het
Acsm1 A T 7: 119,232,403 (GRCm39) Q100L possibly damaging Het
Akr1c21 T C 13: 4,627,457 (GRCm39) Y184H possibly damaging Het
Anks3 T C 16: 4,775,891 (GRCm39) T104A probably damaging Het
Bcl2l2 A G 14: 55,122,224 (GRCm39) Y129C probably damaging Het
Cenpf T A 1: 189,391,207 (GRCm39) K875I probably damaging Het
Cntnap1 T C 11: 101,067,127 (GRCm39) V15A probably benign Het
Dnaaf9 A T 2: 130,633,915 (GRCm39) probably null Het
Elmo3 C A 8: 106,033,013 (GRCm39) R66S probably damaging Het
Elp1 A G 4: 56,779,717 (GRCm39) S565P probably benign Het
Epn1 C A 7: 5,098,684 (GRCm39) A370E probably benign Het
Esrrg T C 1: 187,730,184 (GRCm39) probably benign Het
Fgd5 T G 6: 92,042,145 (GRCm39) L1034R probably damaging Het
Fpgs A G 2: 32,573,135 (GRCm39) V567A possibly damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Hsd17b14 T C 7: 45,205,503 (GRCm39) F38S possibly damaging Het
Larp1 T C 11: 57,941,703 (GRCm39) V712A possibly damaging Het
Mep1b T C 18: 21,221,617 (GRCm39) F189S probably damaging Het
Mill1 T C 7: 17,989,832 (GRCm39) V38A probably benign Het
Niban2 C T 2: 32,766,398 (GRCm39) R13W possibly damaging Het
Npy4r T C 14: 33,868,290 (GRCm39) I333V probably benign Het
Numa1 G T 7: 101,649,874 (GRCm39) E1202* probably null Het
Or3a1b C T 11: 74,012,610 (GRCm39) A165V probably benign Het
Or6k6 A G 1: 173,945,276 (GRCm39) I102T probably benign Het
Oxr1 A T 15: 41,683,645 (GRCm39) Q356L possibly damaging Het
Prdx2 T C 8: 85,698,198 (GRCm39) F130L probably damaging Het
Rasa1 A T 13: 85,404,515 (GRCm39) S248R possibly damaging Het
Rgs19 A G 2: 181,333,114 (GRCm39) S49P probably benign Het
Rinl A G 7: 28,495,075 (GRCm39) probably benign Het
Serpinb11 T C 1: 107,307,654 (GRCm39) F362L probably damaging Het
Slamf8 T C 1: 172,411,736 (GRCm39) H253R possibly damaging Het
Tet3 C A 6: 83,353,769 (GRCm39) R829L probably damaging Het
Trappc8 A G 18: 20,996,652 (GRCm39) L420P probably damaging Het
Ube2u A T 4: 100,407,199 (GRCm39) *353Y probably null Het
Wbp1l A C 19: 46,632,838 (GRCm39) D46A probably damaging Het
Zbtb21 A G 16: 97,752,945 (GRCm39) V474A probably damaging Het
Other mutations in H3c3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03232:H3c3 APN 13 23,929,164 (GRCm39) missense probably damaging 0.96
R2043:H3c3 UTSW 13 23,929,278 (GRCm39) missense probably damaging 1.00
R3114:H3c3 UTSW 13 23,929,290 (GRCm39) missense probably benign 0.00
R8749:H3c3 UTSW 13 23,929,108 (GRCm39) missense probably benign 0.36
R8984:H3c3 UTSW 13 23,929,393 (GRCm39) missense probably benign 0.00
X0037:H3c3 UTSW 13 23,929,417 (GRCm39) missense possibly damaging 0.95
Posted On 2016-08-02