Incidental Mutation 'IGL01390:H2ac6'
ID 79186
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2ac6
Ensembl Gene ENSMUSG00000069270
Gene Name H2A clustered histone 6
Synonyms Hist1h2ac
Accession Numbers
Essential gene? Not available question?
Stock # IGL01390
Quality Score
Status
Chromosome 13
Chromosomal Location 23867456-23867942 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to C at 23867499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018246] [ENSMUST00000171127]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000018246
SMART Domains Protein: ENSMUSP00000018246
Gene: ENSMUSG00000018102

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
H2B 28 124 1.43e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157405
Predicted Effect probably benign
Transcript: ENSMUST00000171127
SMART Domains Protein: ENSMUSP00000127684
Gene: ENSMUSG00000069270

DomainStartEndE-ValueType
H2A 3 123 8.07e-81 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197197
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 H2A 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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6v0a1 A G 11: 100,934,628 (GRCm39) K565R probably benign Het
Cacna2d3 T C 14: 28,665,548 (GRCm39) T158A possibly damaging Het
Dnah5 A G 15: 28,411,686 (GRCm39) D3685G probably benign Het
Dock1 T C 7: 134,346,776 (GRCm39) I236T possibly damaging Het
Dock6 A G 9: 21,714,341 (GRCm39) V1803A probably damaging Het
Epb41 T C 4: 131,731,048 (GRCm39) I178V probably benign Het
Gm10110 C A 14: 90,135,677 (GRCm39) noncoding transcript Het
Hoxb7 A C 11: 96,177,837 (GRCm39) N95T probably benign Het
Ikzf2 C A 1: 69,609,801 (GRCm39) C116F probably damaging Het
Ints8 A T 4: 11,218,679 (GRCm39) probably benign Het
Itprid1 C T 6: 55,874,983 (GRCm39) P311L probably benign Het
Man2a1 T C 17: 65,017,700 (GRCm39) Y649H probably benign Het
Mcm8 T C 2: 132,679,998 (GRCm39) probably benign Het
Msi1 T A 5: 115,576,780 (GRCm39) D137E possibly damaging Het
Or8u10 T C 2: 85,915,984 (GRCm39) I46V probably benign Het
Pde6c A G 19: 38,150,376 (GRCm39) Y507C probably benign Het
Prl7d1 A G 13: 27,894,149 (GRCm39) V140A possibly damaging Het
Rb1 T A 14: 73,532,439 (GRCm39) I132F probably benign Het
Rgl1 A G 1: 152,447,339 (GRCm39) probably benign Het
Rpl18a G T 8: 71,348,154 (GRCm39) probably benign Het
Sf3b1 T C 1: 55,026,588 (GRCm39) I1274V probably benign Het
Slc9a3 A C 13: 74,298,880 (GRCm39) I100L probably benign Het
Sorcs3 T A 19: 48,778,570 (GRCm39) Y996N probably damaging Het
Sra1 A G 18: 36,803,134 (GRCm39) L37P probably damaging Het
Stim1 A G 7: 102,076,369 (GRCm39) Q440R possibly damaging Het
Tacc3 C T 5: 33,825,405 (GRCm39) probably benign Het
Tas2r104 T A 6: 131,662,448 (GRCm39) Y87F probably benign Het
Tbl2 T C 5: 135,185,217 (GRCm39) probably benign Het
Vsig10l C T 7: 43,115,889 (GRCm39) S410F probably damaging Het
Other mutations in H2ac6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02245:H2ac6 APN 13 23,867,784 (GRCm39) missense possibly damaging 0.84
IGL02245:H2ac6 APN 13 23,867,783 (GRCm39) missense probably damaging 1.00
palsy UTSW 13 23,867,593 (GRCm39) missense probably damaging 1.00
R5762:H2ac6 UTSW 13 23,867,888 (GRCm39) missense probably damaging 0.97
R7239:H2ac6 UTSW 13 23,867,593 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-05