Incidental Mutation 'IGL02245:H2ac6'
ID 286166
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 # IGL02245
Quality Score
Status
Chromosome 13
Chromosomal Location 23867456-23867942 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 23867783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 40 (Y40N)
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 damaging
Transcript: ENSMUST00000171127
AA Change: Y40N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127684
Gene: ENSMUSG00000069270
AA Change: Y40N

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,381,772 (GRCm39) I1398V probably benign Het
Abca5 G A 11: 110,188,995 (GRCm39) Q821* probably null Het
Bcl9 A T 3: 97,116,009 (GRCm39) L895Q probably damaging Het
Cpne7 A G 8: 123,844,357 (GRCm39) D41G probably damaging Het
Daxx A G 17: 34,131,351 (GRCm39) probably benign Het
Dbx2 A G 15: 95,522,628 (GRCm39) Y360H probably damaging Het
Dpy19l2 T C 9: 24,607,321 (GRCm39) T47A probably benign Het
Ephb3 T C 16: 21,040,174 (GRCm39) V512A probably benign Het
Exoc2 T C 13: 31,090,842 (GRCm39) D254G probably benign Het
Gtpbp1 G T 15: 79,575,127 (GRCm39) R7L probably benign Het
Gucy2c A T 6: 136,706,201 (GRCm39) I500N probably benign Het
Hormad2 T C 11: 4,358,580 (GRCm39) probably benign Het
Impg2 A G 16: 56,089,445 (GRCm39) Q1130R probably damaging Het
Itga4 T A 2: 79,150,903 (GRCm39) D836E probably benign Het
Loxhd1 A T 18: 77,427,797 (GRCm39) T456S possibly damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Map1b T C 13: 99,568,036 (GRCm39) T1562A unknown Het
Mre11a C T 9: 14,726,572 (GRCm39) probably benign Het
Myh1 A C 11: 67,102,313 (GRCm39) E868A possibly damaging Het
Nlrp4e T G 7: 23,020,300 (GRCm39) S262R probably damaging Het
Nlrp9a C T 7: 26,257,318 (GRCm39) T223I probably benign Het
Nosip A G 7: 44,723,466 (GRCm39) D44G probably benign Het
Nr6a1 C T 2: 38,630,565 (GRCm39) M217I probably benign Het
Numa1 A G 7: 101,649,601 (GRCm39) T1111A probably benign Het
Or6c6c T A 10: 129,541,608 (GRCm39) I287N probably damaging Het
Pms1 A G 1: 53,246,519 (GRCm39) L340P probably damaging Het
Prmt7 T C 8: 106,963,937 (GRCm39) V277A probably benign Het
Pxmp4 T C 2: 154,429,870 (GRCm39) Y173C probably damaging Het
Rbm11 G T 16: 75,389,896 (GRCm39) V21L possibly damaging Het
Rims1 A G 1: 22,416,712 (GRCm39) S1123P probably damaging Het
Rnf220 C T 4: 117,156,734 (GRCm39) probably benign Het
Rnf41 T G 10: 128,273,196 (GRCm39) *123G probably null Het
Samhd1 C T 2: 156,952,475 (GRCm39) D426N possibly damaging Het
Scn10a A G 9: 119,501,218 (GRCm39) W189R probably damaging Het
Slco1a6 A G 6: 142,055,150 (GRCm39) F265L probably damaging Het
Spag16 A G 1: 69,897,661 (GRCm39) D137G probably benign Het
Srsf12 G A 4: 33,209,103 (GRCm39) probably benign Het
Suclg2 A G 6: 95,572,722 (GRCm39) I81T possibly damaging Het
Tmc1 C T 19: 20,776,556 (GRCm39) R601H probably damaging Het
Trim33 T C 3: 103,254,086 (GRCm39) probably null Het
Vit A G 17: 78,932,480 (GRCm39) D529G probably damaging Het
Wbp1l C T 19: 46,643,057 (GRCm39) H353Y possibly damaging Het
Wdr70 A T 15: 8,075,965 (GRCm39) V170D possibly damaging Het
Ythdc2 T A 18: 44,995,751 (GRCm39) I947N possibly damaging Het
Zfp280b T C 10: 75,875,197 (GRCm39) S359P probably benign Het
Zfp936 T C 7: 42,836,722 (GRCm39) probably null Het
Zscan4d T A 7: 10,896,716 (GRCm39) Y218F probably benign Het
Other mutations in H2ac6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01390:H2ac6 APN 13 23,867,499 (GRCm39) utr 3 prime probably benign
IGL02245:H2ac6 APN 13 23,867,784 (GRCm39) missense possibly damaging 0.84
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 2015-04-16