Incidental Mutation 'R4853:H2ac13'
ID 373735
Institutional Source Beutler Lab
Gene Symbol H2ac13
Ensembl Gene ENSMUSG00000071516
Gene Name H2A clustered histone 13
Synonyms H2a-291A, Hist1h2ai
Accession Numbers
Essential gene? Not available question?
Stock # R4853 (G1)
Quality Score 139
Status Not validated
Chromosome 13
Chromosomal Location 21900592-21900984 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21900866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 92 (E92G)
Ref Sequence ENSEMBL: ENSMUSP00000088285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070124] [ENSMUST00000091756] [ENSMUST00000188775]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000070124
AA Change: E92G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000088285
Gene: ENSMUSG00000071516
AA Change: E92G

DomainStartEndE-ValueType
H2A 3 123 8.07e-81 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000091710
Predicted Effect probably benign
Transcript: ENSMUST00000091756
SMART Domains Protein: ENSMUSP00000089350
Gene: ENSMUSG00000094338

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
H2B 28 124 4.64e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188775
SMART Domains Protein: ENSMUSP00000140394
Gene: ENSMUSG00000101355

DomainStartEndE-ValueType
H3 34 136 1.5e-75 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195897
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196836
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.8%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Abr T C 11: 76,355,087 (GRCm39) T244A probably damaging Het
Adcy10 T A 1: 165,375,782 (GRCm39) N803K probably benign Het
Afm T C 5: 90,699,326 (GRCm39) F590S probably damaging Het
Agk T C 6: 40,360,753 (GRCm39) probably null Het
Agrn C T 4: 156,270,007 (GRCm39) probably null Het
Apon A G 10: 128,090,951 (GRCm39) S210G probably benign Het
Atad5 A G 11: 79,986,098 (GRCm39) E395G probably damaging Het
AU018091 A T 7: 3,205,861 (GRCm39) L671H probably damaging Het
Capn13 GCA G 17: 73,658,501 (GRCm39) probably null Het
Ccdc154 A T 17: 25,389,941 (GRCm39) I524F probably damaging Het
Clspn T A 4: 126,460,348 (GRCm39) I525K probably damaging Het
Cpne5 A T 17: 29,380,172 (GRCm39) V448E probably benign Het
Cps1 A G 1: 67,195,361 (GRCm39) I261V possibly damaging Het
Crybb2 T C 5: 113,211,054 (GRCm39) E78G probably damaging Het
Ctps1 G T 4: 120,411,207 (GRCm39) L270I probably damaging Het
Cyp19a1 T C 9: 54,074,060 (GRCm39) D431G probably benign Het
Cyp3a57 T G 5: 145,302,489 (GRCm39) V95G probably damaging Het
Ddx54 A G 5: 120,761,694 (GRCm39) D490G probably benign Het
Dnai2 A T 11: 114,635,917 (GRCm39) I301F probably benign Het
Dsg1b A G 18: 20,541,793 (GRCm39) S767G probably benign Het
Dsg1b A T 18: 20,523,189 (GRCm39) probably null Het
Ermap G A 4: 119,044,451 (GRCm39) P115L probably damaging Het
Esrra T G 19: 6,897,440 (GRCm39) T106P probably damaging Het
Exoc5 GTATT GT 14: 49,289,826 (GRCm39) probably benign Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gnl3 T C 14: 30,737,270 (GRCm39) K203E probably damaging Het
Habp2 G A 19: 56,299,623 (GRCm39) probably null Het
Kcnh3 A C 15: 99,139,970 (GRCm39) D952A possibly damaging Het
Kif27 T C 13: 58,459,072 (GRCm39) K920E probably benign Het
Kmt2e C T 5: 23,707,339 (GRCm39) P1634L probably damaging Het
Lamc1 A T 1: 153,104,846 (GRCm39) M1312K possibly damaging Het
Myh14 T A 7: 44,257,872 (GRCm39) Q1921L probably damaging Het
Ncor2 A G 5: 125,102,169 (GRCm39) V68A probably damaging Het
Ncor2 A G 5: 125,158,247 (GRCm39) F444L unknown Het
Nedd9 A G 13: 41,469,837 (GRCm39) Y439H probably benign Het
Nsd1 T A 13: 55,416,317 (GRCm39) H1454Q probably benign Het
Or10v9 T A 19: 11,832,645 (GRCm39) D224V probably benign Het
Or51v8 G T 7: 103,320,010 (GRCm39) T76K probably damaging Het
Or5i1 T G 2: 87,613,526 (GRCm39) F214C probably benign Het
Or9m1b A G 2: 87,836,448 (GRCm39) S216P probably damaging Het
P4ha2 G A 11: 54,010,996 (GRCm39) S337N probably benign Het
Pck1 T A 2: 172,996,507 (GRCm39) Y140* probably null Het
Phldb2 T C 16: 45,623,079 (GRCm39) M656V probably damaging Het
Pif1 T C 9: 65,500,858 (GRCm39) W559R probably damaging Het
Pllp T C 8: 95,406,022 (GRCm39) Y87C probably damaging Het
Ppp1r3a T C 6: 14,719,046 (GRCm39) N623D probably benign Het
Prkcg C T 7: 3,367,469 (GRCm39) R345C probably damaging Het
Rgl1 T C 1: 152,433,325 (GRCm39) I147V probably benign Het
Sdk1 T A 5: 142,132,018 (GRCm39) L1649Q probably damaging Het
Sema3b C T 9: 107,479,266 (GRCm39) probably null Het
Sh3rf3 G A 10: 58,919,341 (GRCm39) R486H probably damaging Het
Shoc1 T C 4: 59,072,345 (GRCm39) K624E possibly damaging Het
Slain2 A G 5: 73,105,941 (GRCm39) N192S probably benign Het
Slc22a16 T A 10: 40,450,047 (GRCm39) I161N probably damaging Het
Strip1 T C 3: 107,524,232 (GRCm39) K562E possibly damaging Het
Sumf1 A G 6: 108,162,456 (GRCm39) L21S probably benign Het
Sytl3 T A 17: 7,005,164 (GRCm39) S380T probably damaging Het
Tgfb1i1 T A 7: 127,847,840 (GRCm39) C74* probably null Het
Tmprss15 T G 16: 78,757,479 (GRCm39) I939L probably benign Het
Tpsb2 GGCTGCTGCTGCTGCTG GGCTGCTGCTGCTG 17: 25,585,536 (GRCm39) probably benign Het
Vwde A T 6: 13,215,639 (GRCm39) V139E probably damaging Het
Wdr27 A G 17: 15,137,475 (GRCm39) probably null Het
Zkscan14 A G 5: 145,132,001 (GRCm39) V510A probably benign Het
Other mutations in H2ac13
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6163:H2ac13 UTSW 13 21,900,859 (GRCm39) missense probably damaging 0.99
R8392:H2ac13 UTSW 13 21,900,656 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CAGCTGAGTTATGTCTGGACG -3'
(R):5'- TTGGAGAAAGTGAGTGGCTC -3'

Sequencing Primer
(F):5'- TATGTCTGGACGCGGCAAG -3'
(R):5'- CTCTGAAAAGAGCCTTTGGTGATTC -3'
Posted On 2016-03-01