Incidental Mutation 'IGL03232:H3c3'
ID 413939
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 # IGL03232
Quality Score
Status
Chromosome 13
Chromosomal Location 23929025-23929504 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 23929164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 106 (E106A)
Ref Sequence ENSEMBL: ENSMUSP00000089346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040914] [ENSMUST00000091752] [ENSMUST00000099703]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000040914
SMART Domains Protein: ENSMUSP00000045816
Gene: ENSMUSG00000036181

DomainStartEndE-ValueType
low complexity region 3 29 N/A INTRINSIC
H15 34 99 2.8e-22 SMART
low complexity region 116 212 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000091752
AA Change: E106A

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000089346
Gene: ENSMUSG00000069310
AA Change: E106A

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c19 A G 13: 4,288,462 (GRCm39) T147A probably damaging Het
Bdp1 A G 13: 100,187,989 (GRCm39) L1532S probably damaging Het
Btbd3 G A 2: 138,126,063 (GRCm39) A416T probably damaging Het
Cacna1e C T 1: 154,369,104 (GRCm39) R311H probably damaging Het
Cers2 T G 3: 95,227,468 (GRCm39) V32G probably damaging Het
Cimip2a A T 2: 25,111,751 (GRCm39) R277* probably null Het
Cog4 A G 8: 111,607,314 (GRCm39) probably null Het
Crybg3 C A 16: 59,350,731 (GRCm39) G870C probably damaging Het
Dmxl1 C T 18: 50,011,247 (GRCm39) H1135Y probably benign Het
Esr1 A C 10: 4,919,270 (GRCm39) K453N probably damaging Het
Gprc5d T C 6: 135,093,662 (GRCm39) I82V probably benign Het
Hmcn1 A G 1: 150,646,103 (GRCm39) probably benign Het
Loxhd1 A G 18: 77,496,446 (GRCm39) T17A probably damaging Het
Lrp1 C T 10: 127,375,245 (GRCm39) A4452T probably damaging Het
Morc1 A G 16: 48,451,165 (GRCm39) E948G probably benign Het
Mug1 A G 6: 121,855,494 (GRCm39) K943E probably benign Het
Or5b109 T A 19: 13,212,341 (GRCm39) C242* probably null Het
Or5b12b C A 19: 12,861,636 (GRCm39) Y130* probably null Het
Or5p73 A G 7: 108,064,812 (GRCm39) T94A probably benign Het
Rab21 T C 10: 115,130,767 (GRCm39) probably benign Het
Selenoi T C 5: 30,461,259 (GRCm39) F140S probably damaging Het
Serpini1 T C 3: 75,545,317 (GRCm39) probably benign Het
Sgip1 T C 4: 102,772,251 (GRCm39) probably benign Het
Smc1b T C 15: 85,013,921 (GRCm39) I83M possibly damaging Het
Smg7 T C 1: 152,715,907 (GRCm39) Y1061C probably damaging Het
Thbs2 A T 17: 14,911,675 (GRCm39) M1K probably null Het
Ubqlnl A G 7: 103,797,836 (GRCm39) S554P possibly damaging Het
Other mutations in H3c3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03126:H3c3 APN 13 23,929,425 (GRCm39) missense possibly damaging 0.66
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