Incidental Mutation 'IGL00501:H2az1'
ID 6748
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2az1
Ensembl Gene ENSMUSG00000037894
Gene Name H2A.Z variant histone 1
Synonyms H2A.Z, H2A.Z1, H2afz
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00501
Quality Score
Status
Chromosome 3
Chromosomal Location 137570248-137572683 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 137571357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 53 (V53A)
Ref Sequence ENSEMBL: ENSMUSP00000134059 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041045] [ENSMUST00000090178] [ENSMUST00000172696] [ENSMUST00000173790] [ENSMUST00000174561] [ENSMUST00000197711]
AlphaFold P0C0S6
Predicted Effect possibly damaging
Transcript: ENSMUST00000041045
AA Change: V53A

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036907
Gene: ENSMUSG00000037894
AA Change: V53A

DomainStartEndE-ValueType
H2A 5 125 2.05e-73 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000090178
SMART Domains Protein: ENSMUSP00000087641
Gene: ENSMUSG00000074212

DomainStartEndE-ValueType
DnaJ 107 164 3.8e-28 SMART
low complexity region 226 242 N/A INTRINSIC
Pfam:DUF1977 265 371 1.1e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125226
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125821
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138010
Predicted Effect silent
Transcript: ENSMUST00000172696
SMART Domains Protein: ENSMUSP00000133541
Gene: ENSMUSG00000037894

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173666
Predicted Effect possibly damaging
Transcript: ENSMUST00000173790
AA Change: V53A

PolyPhen 2 Score 0.477 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000133339
Gene: ENSMUSG00000037894
AA Change: V53A

DomainStartEndE-ValueType
H2A 5 85 2.61e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000174561
AA Change: V53A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134059
Gene: ENSMUSG00000037894
AA Change: V53A

DomainStartEndE-ValueType
H2A 5 102 3.68e-43 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198830
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198011
Predicted Effect probably benign
Transcript: ENSMUST00000197711
SMART Domains Protein: ENSMUSP00000143194
Gene: ENSMUSG00000074212

DomainStartEndE-ValueType
DnaJ 57 114 2.4e-30 SMART
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. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone 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 encodes a replication-independent member of the histone H2A family that is distinct from other members of the family. Studies in mice have shown that this particular histone is required for embryonic development and indicate that lack of functional histone H2A leads to embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous disruption of this gene results in an abnormal inner cell mass and early embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 T C 9: 53,493,895 (GRCm39) I409V probably damaging Het
Adck1 A G 12: 88,335,192 (GRCm39) N26S probably benign Het
Adgrf5 G A 17: 43,760,806 (GRCm39) A834T possibly damaging Het
Agpat5 T C 8: 18,926,148 (GRCm39) probably null Het
Ano8 A C 8: 71,931,793 (GRCm39) probably null Het
Baz2a T A 10: 127,950,494 (GRCm39) M476K probably benign Het
Cgas G A 9: 78,342,869 (GRCm39) A311V probably damaging Het
Col16a1 A G 4: 129,988,345 (GRCm39) probably null Het
Cyp3a13 A T 5: 137,910,195 (GRCm39) I113N probably benign Het
Dstn A G 2: 143,784,094 (GRCm39) T146A probably benign Het
Eif2ak1 A T 5: 143,826,288 (GRCm39) M434L probably damaging Het
Gba2 G A 4: 43,568,477 (GRCm39) A663V probably damaging Het
Gja10 T C 4: 32,601,230 (GRCm39) T385A possibly damaging Het
Gm42878 A C 5: 121,671,406 (GRCm39) I209R probably damaging Het
Grk1 T A 8: 13,457,835 (GRCm39) V245E probably damaging Het
Hycc1 A G 5: 24,190,843 (GRCm39) probably benign Het
Kctd16 G A 18: 40,390,440 (GRCm39) probably benign Het
Klhdc8b C T 9: 108,326,105 (GRCm39) R263H probably benign Het
Lcn8 T C 2: 25,545,119 (GRCm39) probably benign Het
Ldlr T C 9: 21,646,657 (GRCm39) probably null Het
Lrrc40 T C 3: 157,766,919 (GRCm39) F458S probably damaging Het
Lypla1 T A 1: 4,898,810 (GRCm39) H35Q probably damaging Het
Mink1 C T 11: 70,494,638 (GRCm39) T273I probably damaging Het
Neb A G 2: 52,185,356 (GRCm39) F959L probably benign Het
Nedd4l A T 18: 65,341,163 (GRCm39) D704V probably damaging Het
Peak1 C T 9: 56,134,610 (GRCm39) E1274K probably damaging Het
Prkcz G T 4: 155,378,858 (GRCm39) probably benign Het
Rabgap1 T A 2: 37,359,558 (GRCm39) N40K probably damaging Het
Serpinb1c T C 13: 33,067,958 (GRCm39) K213E probably damaging Het
Spink5 A G 18: 44,110,806 (GRCm39) T126A probably damaging Het
Tanc2 T C 11: 105,814,046 (GRCm39) V1830A probably benign Het
Tmem104 T C 11: 115,134,763 (GRCm39) I433T probably damaging Het
Trim10 G A 17: 37,187,939 (GRCm39) R385K probably benign Het
Zbtb44 A G 9: 30,965,606 (GRCm39) I339V possibly damaging Het
Other mutations in H2az1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1957:H2az1 UTSW 3 137,571,275 (GRCm39) unclassified probably benign
R5775:H2az1 UTSW 3 137,571,380 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20