Incidental Mutation 'R9713:H2ac8'
ID 730328
Institutional Source Beutler Lab
Gene Symbol H2ac8
Ensembl Gene ENSMUSG00000069272
Gene Name H2A clustered histone 8
Synonyms Hist1h2ae
MMRRC Submission
Accession Numbers
Essential gene? Not available question?
Stock # R9713 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 23754837-23755394 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 23755041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 81 (P81L)
Ref Sequence ENSEMBL: ENSMUSP00000100034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079251] [ENSMUST00000090776] [ENSMUST00000102969] [ENSMUST00000105105] [ENSMUST00000105106]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000079251
SMART Domains Protein: ENSMUSP00000078239
Gene: ENSMUSG00000058385

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
H2B 28 124 1.43e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000090776
SMART Domains Protein: ENSMUSP00000088281
Gene: ENSMUSG00000071478

DomainStartEndE-ValueType
H2A 3 123 8.07e-81 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102969
AA Change: P81L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100034
Gene: ENSMUSG00000069272
AA Change: P81L

DomainStartEndE-ValueType
H2A 3 123 8.07e-81 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105105
SMART Domains Protein: ENSMUSP00000100737
Gene: ENSMUSG00000099583

DomainStartEndE-ValueType
H3 34 136 2.12e-75 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105106
SMART Domains Protein: ENSMUSP00000100738
Gene: ENSMUSG00000069268

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
H2B 28 124 4.64e-72 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024B05Rik A T 14: 41,820,060 (GRCm39) I107F probably benign Het
Adam20 G A 8: 41,248,490 (GRCm39) R200H probably benign Het
Ahnak GATCTCTAT GAT 19: 8,984,393 (GRCm39) probably benign Het
Arfgef3 A T 10: 18,528,556 (GRCm39) I277N probably damaging Het
Atp11b A T 3: 35,885,560 (GRCm39) Y851F probably damaging Het
Cdhr1 A G 14: 36,801,751 (GRCm39) S731P probably damaging Het
Csf2rb2 A G 15: 78,176,730 (GRCm39) S221P possibly damaging Het
Dact3 A T 7: 16,620,292 (GRCm39) I596F unknown Het
Eya4 A T 10: 23,027,870 (GRCm39) Y287* probably null Het
Folr2 T C 7: 101,489,809 (GRCm39) D153G probably benign Het
Gal3st2b A T 1: 93,866,409 (GRCm39) I37L probably benign Het
Hectd1 A G 12: 51,823,328 (GRCm39) M1027T probably benign Het
Hectd4 A T 5: 121,448,744 (GRCm39) Y364F probably benign Het
Hsd17b2 A T 8: 118,485,342 (GRCm39) probably null Het
Igkv4-74 A G 6: 69,161,993 (GRCm39) Y59H probably damaging Het
Ilvbl T C 10: 78,412,489 (GRCm39) V70A probably benign Het
Klrh1 A G 6: 129,752,359 (GRCm39) V52A possibly damaging Het
Ly9 A C 1: 171,428,756 (GRCm39) I288S probably damaging Het
Muc5b A G 7: 141,416,678 (GRCm39) E3208G probably benign Het
Myo1b G A 1: 51,818,766 (GRCm39) T503I possibly damaging Het
Ntm T A 9: 29,090,327 (GRCm39) I131F possibly damaging Het
Odad1 T G 7: 45,578,562 (GRCm39) V45G probably damaging Het
Or1p4-ps1 A G 11: 74,208,078 (GRCm39) T76A probably damaging Het
Or51f23c-ps1 T C 7: 102,431,633 (GRCm39) *317Q probably null Het
Or52ae7 C T 7: 103,119,914 (GRCm39) L223F possibly damaging Het
Or5b108 A T 19: 13,168,727 (GRCm39) Y232F probably benign Het
Or8k38 T C 2: 86,488,041 (GRCm39) T254A possibly damaging Het
Pbrm1 T C 14: 30,828,123 (GRCm39) S1317P probably damaging Het
Spaca6 T A 17: 18,058,498 (GRCm39) Y39* probably null Het
Spen G A 4: 141,244,331 (GRCm39) R235C unknown Het
Sycp2l C A 13: 41,326,183 (GRCm39) A746D probably damaging Het
Tgm3 A G 2: 129,867,229 (GRCm39) E158G possibly damaging Het
Trim26 A T 17: 37,168,307 (GRCm39) D324V probably damaging Het
Ttc9b T C 7: 27,353,475 (GRCm39) S42P probably benign Het
Ttn C A 2: 76,682,434 (GRCm39) E952* probably null Het
Ulk4 C A 9: 120,873,862 (GRCm39) E1190* probably null Het
Vmn1r85 A T 7: 12,818,458 (GRCm39) S229T probably damaging Het
Wwc1 C A 11: 35,766,576 (GRCm39) A560S probably benign Het
Zfp787 A G 7: 6,146,059 (GRCm39) probably null Het
Other mutations in H2ac8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1458:H2ac8 UTSW 13 23,755,221 (GRCm39) unclassified probably benign
R1546:H2ac8 UTSW 13 23,755,119 (GRCm39) missense probably damaging 1.00
R2884:H2ac8 UTSW 13 23,755,047 (GRCm39) missense probably damaging 1.00
R3885:H2ac8 UTSW 13 23,755,053 (GRCm39) missense possibly damaging 0.90
R6450:H2ac8 UTSW 13 23,755,119 (GRCm39) missense probably damaging 1.00
R9502:H2ac8 UTSW 13 23,755,045 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGGACAATTGACAGGTTGAATTTTC -3'
(R):5'- TGTCTGGACGTGGCAAACAG -3'

Sequencing Primer
(F):5'- GCACTTTACTGAATTAAGTGAATGGC -3'
(R):5'- ACAGGGTGGCAAGGCTC -3'
Posted On 2022-10-06