Incidental Mutation 'PIT4576001:H2ac15'
ID 556388
Institutional Source Beutler Lab
Gene Symbol H2ac15
Ensembl Gene ENSMUSG00000063021
Gene Name H2A clustered histone 15
Synonyms Hist1h2ak
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.295) question?
Stock # PIT4576001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 21937605-21937997 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 21937781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 73 (D73Y)
Ref Sequence ENSEMBL: ENSMUSP00000074310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074752] [ENSMUST00000091709] [ENSMUST00000102983]
AlphaFold Q8CGP7
Predicted Effect probably damaging
Transcript: ENSMUST00000074752
AA Change: D73Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074310
Gene: ENSMUSG00000063021
AA Change: D73Y

DomainStartEndE-ValueType
H2A 3 123 1.22e-80 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000091709
SMART Domains Protein: ENSMUSP00000089301
Gene: ENSMUSG00000095217

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
H2B 28 124 4.64e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102983
SMART Domains Protein: ENSMUSP00000100048
Gene: ENSMUSG00000064288

DomainStartEndE-ValueType
H4 16 90 2.59e-29 SMART
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.8%
  • 10x: 85.3%
  • 20x: 72.8%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik T C 6: 65,929,983 (GRCm39) S73P probably damaging Het
5730596B20Rik G T 6: 52,156,449 (GRCm39) V172F unknown Het
Brms1 A G 19: 5,096,229 (GRCm39) K69E probably damaging Het
Calr4 A C 4: 109,093,053 (GRCm39) Q44H possibly damaging Het
Dnmt1 G A 9: 20,823,071 (GRCm39) T1242I probably benign Het
Dyrk3 A G 1: 131,057,918 (GRCm39) V85A probably damaging Het
Eif2a T C 3: 58,452,974 (GRCm39) Y250H probably damaging Het
Esco1 T C 18: 10,572,093 (GRCm39) E749G probably damaging Het
Fat1 A G 8: 45,477,682 (GRCm39) I2243V probably damaging Het
Gh A T 11: 106,191,659 (GRCm39) F128I possibly damaging Het
Gm17669 TAA TAAA 18: 67,695,819 (GRCm39) probably null Het
Gtpbp4 A G 13: 9,041,763 (GRCm39) Y150H probably damaging Het
Itga8 A G 2: 12,234,903 (GRCm39) S452P probably benign Het
Kcnma1 C T 14: 23,359,103 (GRCm39) probably null Het
Macf1 T C 4: 123,367,114 (GRCm39) E2549G probably benign Het
Mindy1 C T 3: 95,195,380 (GRCm39) A41V probably benign Het
Mypn T A 10: 62,955,850 (GRCm39) K1201M probably damaging Het
Ncor1 A G 11: 62,224,543 (GRCm39) S906P probably damaging Het
Npy1r T C 8: 67,156,874 (GRCm39) V98A probably benign Het
Pate2 A G 9: 35,581,889 (GRCm39) Y61C probably damaging Het
Pfdn2 A G 1: 171,173,310 (GRCm39) S11G unknown Het
Prdm1 T C 10: 44,334,504 (GRCm39) M1V probably null Het
Prelp A G 1: 133,842,903 (GRCm39) S81P possibly damaging Het
Prss12 T C 3: 123,280,764 (GRCm39) V483A probably damaging Het
Prss43 G C 9: 110,656,955 (GRCm39) V154L probably damaging Het
Ptpru G A 4: 131,529,855 (GRCm39) R618* probably null Het
Rpa1 A G 11: 75,203,984 (GRCm39) S288P probably damaging Het
Semp2l1 T C 1: 32,585,553 (GRCm39) E119G probably damaging Het
Siglec1 A G 2: 130,920,081 (GRCm39) F817L probably damaging Het
Skint6 T A 4: 112,910,564 (GRCm39) S545C possibly damaging Het
Slit1 A T 19: 41,612,988 (GRCm39) V844D possibly damaging Het
Suclg2 G T 6: 95,563,999 (GRCm39) D195E possibly damaging Het
Tln1 G T 4: 43,539,998 (GRCm39) A1537D probably damaging Het
Trpv2 A G 11: 62,472,027 (GRCm39) D73G probably damaging Het
Ucp3 T C 7: 100,129,458 (GRCm39) S98P probably benign Het
Usp19 T A 9: 108,369,931 (GRCm39) probably null Het
Vmn2r112 T C 17: 22,833,912 (GRCm39) F527L probably benign Het
Vmn2r93 T C 17: 18,533,473 (GRCm39) V459A probably benign Het
Other mutations in H2ac15
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4585:H2ac15 UTSW 13 21,937,882 (GRCm39) missense possibly damaging 0.92
R4586:H2ac15 UTSW 13 21,937,882 (GRCm39) missense possibly damaging 0.92
R7627:H2ac15 UTSW 13 21,937,916 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TATCAAGGGCCTCACTTCCC -3'
(R):5'- TTCTACCATGTCAGGAAGAGGC -3'

Sequencing Primer
(F):5'- CCCCTTGGCCTTGTGGTG -3'
(R):5'- AGCAGGGTGGCAAGGCTC -3'
Posted On 2019-06-07