Incidental Mutation 'R8023:H2ac20'
ID 617509
Institutional Source Beutler Lab
Gene Symbol H2ac20
Ensembl Gene ENSMUSG00000068855
Gene Name H2A clustered histone 20
Synonyms Hist2h2ac, H2a-613b
MMRRC Submission 067462-MU
Accession Numbers
Essential gene? Not available question?
Stock # R8023 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 96127728-96128209 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96128106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 19 (S19P)
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 unknown
Transcript: ENSMUST00000090782
AA Change: S19P
SMART Domains Protein: ENSMUSP00000088288
Gene: ENSMUSG00000068855
AA Change: S19P

DomainStartEndE-ValueType
H2A 3 123 1.1e-82 SMART
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg2 A G 17: 57,152,448 (GRCm39) Y665H probably damaging Het
Acte1 T C 7: 143,445,528 (GRCm39) S192P probably damaging Het
Agbl4 T A 4: 111,474,345 (GRCm39) V378E probably benign Het
Card9 T C 2: 26,247,327 (GRCm39) D274G probably benign Het
Ccnc T C 4: 21,747,578 (GRCm39) probably null Het
Col1a2 T G 6: 4,533,847 (GRCm39) S843A unknown Het
Cux1 T A 5: 136,402,251 (GRCm39) I111F probably damaging Het
Fam24b A C 7: 130,927,869 (GRCm39) S107A probably benign Het
Fndc7 C T 3: 108,774,461 (GRCm39) C599Y probably damaging Het
Gm3604 G A 13: 62,517,683 (GRCm39) A225V probably damaging Het
Grhl3 A G 4: 135,277,640 (GRCm39) V475A probably benign Het
Heg1 T A 16: 33,550,895 (GRCm39) V958E possibly damaging Het
Hibch T C 1: 52,899,197 (GRCm39) M30T probably benign Het
Hk2 T A 6: 82,705,790 (GRCm39) M838L probably benign Het
Hpd A G 5: 123,314,297 (GRCm39) F206S probably damaging Het
Il34 C T 8: 111,469,284 (GRCm39) C177Y probably damaging Het
Il6ra A G 3: 89,820,260 (GRCm39) probably null Het
Itpr2 A G 6: 146,088,988 (GRCm39) I2240T probably damaging Het
Med24 A G 11: 98,609,321 (GRCm39) probably null Het
Mpz A G 1: 170,987,602 (GRCm39) D246G probably damaging Het
Ncam1 C A 9: 49,421,057 (GRCm39) A753S probably benign Het
Ndufs2 A T 1: 171,064,263 (GRCm39) M375K probably damaging Het
Obox2 A G 7: 15,131,145 (GRCm39) K84E possibly damaging Het
Or4c31 A G 2: 88,292,022 (GRCm39) I132V probably benign Het
Or51k1 A G 7: 103,661,006 (GRCm39) I301T probably damaging Het
Or7e178 C T 9: 20,225,545 (GRCm39) V224I probably benign Het
Pds5a A T 5: 65,795,241 (GRCm39) L665Q probably damaging Het
Prr29 A G 11: 106,267,099 (GRCm39) E38G probably benign Het
Ptpn3 G C 4: 57,248,688 (GRCm39) D215E probably benign Het
Ptprq G A 10: 107,488,477 (GRCm39) Q987* probably null Het
Ranbp6 T C 19: 29,789,222 (GRCm39) S377G possibly damaging Het
Rps6ka1 A T 4: 133,594,506 (GRCm39) L168Q probably damaging Het
Sall1 A G 8: 89,759,171 (GRCm39) I311T probably damaging Het
Satb2 T C 1: 56,930,390 (GRCm39) Y211C probably damaging Het
Sis T A 3: 72,859,813 (GRCm39) Y314F probably damaging Het
Slc1a7 G A 4: 107,869,473 (GRCm39) V513M probably benign Het
Slc6a20a T C 9: 123,489,657 (GRCm39) N129D probably damaging Het
Slu7 G A 11: 43,336,975 (GRCm39) R572Q probably benign Het
Tbx6 C T 7: 126,382,031 (GRCm39) A123V possibly damaging Het
Tcn2 A T 11: 3,877,579 (GRCm39) I23K possibly damaging Het
Tiparp A G 3: 65,439,224 (GRCm39) D180G probably benign Het
Tln2 A G 9: 67,131,346 (GRCm39) L1400P probably damaging Het
Ttf2 T C 3: 100,863,571 (GRCm39) T588A probably benign Het
Ttn A G 2: 76,769,564 (GRCm39) V2741A unknown Het
Txlna A T 4: 129,533,278 (GRCm39) S83R probably damaging Het
Vmn2r16 C T 5: 109,488,272 (GRCm39) Q382* probably null Het
Vmn2r76 A G 7: 85,879,028 (GRCm39) V424A probably benign Het
Zfc3h1 T A 10: 115,256,553 (GRCm39) L1508I probably damaging Het
Zfp189 G A 4: 49,530,312 (GRCm39) G472R probably damaging Het
Zfp462 G A 4: 55,073,106 (GRCm39) probably null Het
Other mutations in H2ac20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03229:H2ac20 APN 3 96,127,953 (GRCm39) missense probably damaging 1.00
R5072:H2ac20 UTSW 3 96,128,099 (GRCm39) unclassified probably benign
R7686:H2ac20 UTSW 3 96,127,886 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTGCCCAGCAGCTTGTTG -3'
(R):5'- ACTTCTCAGGGGCCAAATAACC -3'

Sequencing Primer
(F):5'- ATGGCCAGCTGCAGATG -3'
(R):5'- GGGGCCAAATAACCACCAATG -3'
Posted On 2020-01-23