Incidental Mutation 'IGL03229:H2ac20'
ID 413825
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2ac20
Ensembl Gene ENSMUSG00000068855
Gene Name H2A clustered histone 20
Synonyms Hist2h2ac, H2a-613b
Accession Numbers
Essential gene? Not available question?
Stock # IGL03229
Quality Score
Status
Chromosome 3
Chromosomal Location 96127728-96128209 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 96127953 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 70 (A70T)
Ref Sequence ENSEMBL: ENSMUSP00000088288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073115] [ENSMUST00000090781] [ENSMUST00000090782] [ENSMUST00000177442]
AlphaFold Q64523
Predicted Effect probably benign
Transcript: ENSMUST00000073115
SMART Domains Protein: ENSMUSP00000072858
Gene: ENSMUSG00000063689

DomainStartEndE-ValueType
H2A 3 123 8.91e-83 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000090781
SMART Domains Protein: ENSMUSP00000088287
Gene: ENSMUSG00000068854

DomainStartEndE-ValueType
low complexity region 5 18 N/A INTRINSIC
H2B 28 124 1.14e-71 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000090782
AA Change: A70T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088288
Gene: ENSMUSG00000068855
AA Change: A70T

DomainStartEndE-ValueType
H2A 3 123 1.1e-82 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148335
Predicted Effect probably benign
Transcript: ENSMUST00000177442
SMART Domains Protein: ENSMUSP00000134765
Gene: ENSMUSG00000015943

DomainStartEndE-ValueType
low complexity region 20 35 N/A INTRINSIC
Pfam:BolA 40 113 7.8e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197012
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. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,990,936 (GRCm39) I832T probably damaging Het
Adcyap1r1 T C 6: 55,455,108 (GRCm39) S124P probably damaging Het
Ccn3 A G 15: 54,612,704 (GRCm39) T238A probably benign Het
Coq4 A G 2: 29,678,497 (GRCm39) D41G probably benign Het
Cpb1 A T 3: 20,304,001 (GRCm39) Y354* probably null Het
Dip2b T C 15: 100,105,719 (GRCm39) probably benign Het
Dmxl2 C T 9: 54,311,456 (GRCm39) R1755H probably damaging Het
Dyrk4 G T 6: 126,863,605 (GRCm39) probably benign Het
E2f7 T C 10: 110,590,207 (GRCm39) V120A probably benign Het
Fsip2 A T 2: 82,808,420 (GRCm39) I1580F possibly damaging Het
Gm9755 C A 8: 67,967,324 (GRCm39) noncoding transcript Het
Gprc6a T G 10: 51,492,699 (GRCm39) N480T probably damaging Het
H2-T9 C T 17: 36,438,614 (GRCm39) G259E probably damaging Het
Hdlbp T C 1: 93,357,909 (GRCm39) I331V probably benign Het
Heatr6 G T 11: 83,672,271 (GRCm39) G1093V probably benign Het
Kri1 T C 9: 21,193,366 (GRCm39) E162G probably damaging Het
Nckipsd T C 9: 108,688,813 (GRCm39) V116A probably benign Het
Nek10 A G 14: 14,986,686 (GRCm38) H997R probably benign Het
Nxph1 A G 6: 9,247,830 (GRCm39) Y267C probably damaging Het
Or14a256 T C 7: 86,265,286 (GRCm39) D189G probably benign Het
Or8k40 A T 2: 86,584,360 (GRCm39) C241S probably damaging Het
Ppip5k2 A T 1: 97,656,686 (GRCm39) V829E probably damaging Het
Prkcz A C 4: 155,346,963 (GRCm39) S573A probably benign Het
Prl2c1 T A 13: 28,040,612 (GRCm39) probably benign Het
Rgs22 T A 15: 36,015,925 (GRCm39) probably benign Het
Scn1a T A 2: 66,130,057 (GRCm39) I1253F probably damaging Het
Tarm1 A G 7: 3,545,413 (GRCm39) C146R probably damaging Het
Tor2a A T 2: 32,649,704 (GRCm39) I189F probably damaging Het
Trappc9 A T 15: 72,930,305 (GRCm39) L17Q probably damaging Het
Trim45 T A 3: 100,830,385 (GRCm39) L53Q probably damaging Het
Ubr7 T C 12: 102,735,414 (GRCm39) L291P probably damaging Het
Unc79 T C 12: 103,100,798 (GRCm39) V1878A probably damaging Het
Wdr90 T C 17: 26,064,437 (GRCm39) probably benign Het
Xpnpep1 T C 19: 53,013,811 (GRCm39) H42R probably benign Het
Zfp750 G A 11: 121,403,778 (GRCm39) H366Y possibly damaging Het
Zmynd11 A G 13: 9,739,601 (GRCm39) C462R probably damaging Het
Other mutations in H2ac20
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5072:H2ac20 UTSW 3 96,128,099 (GRCm39) unclassified probably benign
R7686:H2ac20 UTSW 3 96,127,886 (GRCm39) missense probably damaging 1.00
R8023:H2ac20 UTSW 3 96,128,106 (GRCm39) missense unknown
Posted On 2016-08-02