Incidental Mutation 'IGL02108:H2ac4'
ID 280047
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2ac4
Ensembl Gene ENSMUSG00000061615
Gene Name H2A clustered histone 4
Synonyms Hist1h2ab, H2A.1, H2a-53
Accession Numbers
Essential gene? Not available question?
Stock # IGL02108
Quality Score
Status
Chromosome 13
Chromosomal Location 23935109-23935581 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23935207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 31 (V31A)
Ref Sequence ENSEMBL: ENSMUSP00000077477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078369] [ENSMUST00000091703] [ENSMUST00000099703]
AlphaFold C0HKE1
C0HKE2
C0HKE3
C0HKE4
C0HKE5
C0HKE6
C0HKE7
C0HKE8
C0HKE9
Predicted Effect probably benign
Transcript: ENSMUST00000078369
AA Change: V31A

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000077477
Gene: ENSMUSG00000061615
AA Change: V31A

DomainStartEndE-ValueType
H2A 3 123 8.07e-81 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000091703
SMART Domains Protein: ENSMUSP00000089295
Gene: ENSMUSG00000069267

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: ENSMUST00000139822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199263
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 H2A 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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T C 8: 56,325,346 (GRCm39) I369M probably damaging Het
Aff1 T G 5: 103,958,975 (GRCm39) probably null Het
Arid1a G T 4: 133,407,827 (GRCm39) P2227T unknown Het
Atp12a A T 14: 56,621,525 (GRCm39) D720V possibly damaging Het
Auh T C 13: 53,043,133 (GRCm39) probably benign Het
Bptf C A 11: 106,965,814 (GRCm39) V1012L probably benign Het
Cbr1 T C 16: 93,407,087 (GRCm39) F268L probably benign Het
Ccdc190 A G 1: 169,761,555 (GRCm39) D219G probably damaging Het
Ccnb1 C T 13: 100,917,665 (GRCm39) probably null Het
Cdh19 G T 1: 110,817,461 (GRCm39) S760R probably benign Het
Cecr2 G A 6: 120,739,519 (GRCm39) probably null Het
Chid1 A T 7: 141,112,841 (GRCm39) M1K probably null Het
Dzank1 T C 2: 144,348,143 (GRCm39) T208A probably benign Het
Ecm2 T A 13: 49,671,920 (GRCm39) Y140* probably null Het
Enox2 A G X: 48,102,393 (GRCm39) L533S possibly damaging Het
Fntb A G 12: 76,934,631 (GRCm39) E167G possibly damaging Het
Gpihbp1 T C 15: 75,469,461 (GRCm39) V92A probably benign Het
Grsf1 C T 5: 88,813,762 (GRCm39) R329Q probably benign Het
Gtpbp4 T A 13: 9,035,249 (GRCm39) D370V probably benign Het
Klhl14 T A 18: 21,690,977 (GRCm39) Y491F probably damaging Het
Lamb3 A T 1: 193,014,530 (GRCm39) Q563L probably damaging Het
Lcn2 A T 2: 32,277,617 (GRCm39) L124Q probably damaging Het
Mbl1 T C 14: 40,875,608 (GRCm39) S21P possibly damaging Het
Myrip G A 9: 120,296,631 (GRCm39) probably null Het
Nmur2 T C 11: 55,931,190 (GRCm39) T174A probably benign Het
Odf1 C A 15: 38,226,623 (GRCm39) Y174* probably null Het
Optn A G 2: 5,036,084 (GRCm39) V466A possibly damaging Het
Or5m12 A T 2: 85,734,494 (GRCm39) D301E possibly damaging Het
Or8b9 T A 9: 37,766,234 (GRCm39) V40E possibly damaging Het
Or8g54 A T 9: 39,706,808 (GRCm39) I46F probably damaging Het
Pde9a G A 17: 31,680,667 (GRCm39) S316N probably benign Het
Phf3 A T 1: 30,869,032 (GRCm39) I672K probably damaging Het
Pklr A T 3: 89,044,710 (GRCm39) I63F probably damaging Het
Plet1 T C 9: 50,410,387 (GRCm39) probably benign Het
Pp2d1 T A 17: 53,822,433 (GRCm39) D211V probably damaging Het
Ppp6r3 A T 19: 3,542,494 (GRCm39) W384R probably damaging Het
Prdm11 T C 2: 92,806,048 (GRCm39) I301V probably damaging Het
Prkar1a C T 11: 109,558,351 (GRCm39) R357C probably damaging Het
Ptchd1 T C X: 154,356,548 (GRCm39) T886A probably damaging Het
Ptpre A T 7: 135,260,831 (GRCm39) E156V possibly damaging Het
Ptprq T C 10: 107,482,478 (GRCm39) T1032A probably damaging Het
Rras2 A G 7: 113,659,623 (GRCm39) I47T probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Sh3rf3 T A 10: 58,971,650 (GRCm39) V826E probably damaging Het
Tmem127 T A 2: 127,099,026 (GRCm39) S132T probably damaging Het
Tnrc6c C A 11: 117,612,025 (GRCm39) P221Q probably benign Het
Tstd3 A T 4: 21,759,366 (GRCm39) probably benign Het
Usp46 T G 5: 74,189,867 (GRCm39) T55P probably damaging Het
Other mutations in H2ac4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03177:H2ac4 APN 13 23,935,509 (GRCm39) unclassified probably benign
R7213:H2ac4 UTSW 13 23,935,146 (GRCm39) missense unknown
R7367:H2ac4 UTSW 13 23,935,333 (GRCm39) missense possibly damaging 0.77
R8424:H2ac4 UTSW 13 23,935,267 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16