Incidental Mutation 'R5578:H2ac21'
ID 437290
Institutional Source Beutler Lab
Gene Symbol H2ac21
Ensembl Gene ENSMUSG00000063689
Gene Name H2A clustered histone 21
Synonyms EG621893, Hist2h2ab, H2a-613a
MMRRC Submission 043133-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.354) question?
Stock # R5578 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 96127201-96127634 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96127554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 108 (V108A)
Ref Sequence ENSEMBL: ENSMUSP00000072858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073115] [ENSMUST00000090781] [ENSMUST00000090782] [ENSMUST00000177442]
AlphaFold Q64522
Predicted Effect probably damaging
Transcript: ENSMUST00000073115
AA Change: V108A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000072858
Gene: ENSMUSG00000063689
AA Change: V108A

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 benign
Transcript: ENSMUST00000090782
SMART Domains Protein: ENSMUSP00000088288
Gene: ENSMUSG00000068855

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
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. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 A G 16: 30,926,932 (GRCm39) S521P probably benign Het
Aqp11 A G 7: 97,386,665 (GRCm39) F177S probably damaging Het
Arhgap40 G T 2: 158,373,126 (GRCm39) G128V probably damaging Het
Aspm A T 1: 139,398,455 (GRCm39) K1011I probably damaging Het
Cachd1 A G 4: 100,722,203 (GRCm39) T89A probably benign Het
Cep89 ACTCCTCCTCCTCCTCCTCCTCCTC ACTCCTCCTCCTCCTCCTCCTC 7: 35,109,067 (GRCm39) probably benign Het
Cfhr2 A T 1: 139,758,806 (GRCm39) C81* probably null Het
Chd7 A G 4: 8,847,149 (GRCm39) T1631A probably benign Het
Clca4b T A 3: 144,638,196 (GRCm39) D22V probably benign Het
Csnk2a1-ps3 A G 1: 156,352,800 (GRCm39) M334V probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Cyp39a1 T A 17: 43,991,031 (GRCm39) N113K possibly damaging Het
Dnah11 A T 12: 117,982,537 (GRCm39) V2544D probably damaging Het
Dnai3 A T 3: 145,802,983 (GRCm39) Y69* probably null Het
Esr1 A C 10: 4,919,164 (GRCm39) Q418P probably damaging Het
Fam89a T A 8: 125,467,968 (GRCm39) K115* probably null Het
Fstl4 T A 11: 53,056,608 (GRCm39) V455D probably damaging Het
Gm20730 T A 6: 43,058,474 (GRCm39) M113L probably benign Het
Hk3 C T 13: 55,159,994 (GRCm39) V327M probably damaging Het
Itm2c T A 1: 85,830,774 (GRCm39) V57E possibly damaging Het
Lrba T C 3: 86,664,814 (GRCm39) Y565H probably benign Het
Mab21l1 C T 3: 55,691,435 (GRCm39) Q341* probably null Het
Mdm2 C T 10: 117,538,192 (GRCm39) E69K possibly damaging Het
Mdn1 A T 4: 32,728,167 (GRCm39) I2709F probably benign Het
Mpp7 T C 18: 7,355,101 (GRCm39) N442D probably benign Het
Ncoa3 A G 2: 165,896,248 (GRCm39) I384V probably benign Het
Pm20d1 A G 1: 131,743,760 (GRCm39) N475S probably benign Het
Rhpn2 A G 7: 35,070,135 (GRCm39) D131G probably damaging Het
S1pr5 T A 9: 21,155,847 (GRCm39) Y193F probably damaging Het
Sdk1 A T 5: 141,598,880 (GRCm39) K182* probably null Het
Slx4 T A 16: 3,804,726 (GRCm39) E696V probably damaging Het
Smyd4 C T 11: 75,295,602 (GRCm39) P753S probably benign Het
Stambp T G 6: 83,538,782 (GRCm39) D206A probably benign Het
Sult5a1 G T 8: 123,869,860 (GRCm39) Y262* probably null Het
Taar1 A T 10: 23,796,718 (GRCm39) I139F possibly damaging Het
Tchh A T 3: 93,351,618 (GRCm39) R353* probably null Het
Thnsl2 C T 6: 71,115,749 (GRCm39) V153I probably benign Het
Trmt5 C T 12: 73,331,837 (GRCm39) probably null Het
Trpa1 T A 1: 14,957,232 (GRCm39) Y728F probably damaging Het
Usp19 T C 9: 108,370,639 (GRCm39) V126A probably benign Het
Vcan A G 13: 89,839,622 (GRCm39) V1974A probably benign Het
Vmn2r120 T A 17: 57,829,514 (GRCm39) H461L probably benign Het
Zfp445 T C 9: 122,682,402 (GRCm39) Y513C probably benign Het
Zfp84 A C 7: 29,474,856 (GRCm39) M43L possibly damaging Het
Other mutations in H2ac21
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0837:H2ac21 UTSW 3 96,127,439 (GRCm39) missense probably damaging 1.00
R2229:H2ac21 UTSW 3 96,127,422 (GRCm39) missense possibly damaging 0.84
R5635:H2ac21 UTSW 3 96,127,593 (GRCm39) missense possibly damaging 0.52
R7034:H2ac21 UTSW 3 96,127,304 (GRCm39) nonsense probably null
R9495:H2ac21 UTSW 3 96,127,401 (GRCm39) missense probably damaging 1.00
R9514:H2ac21 UTSW 3 96,127,401 (GRCm39) missense probably damaging 1.00
Z1176:H2ac21 UTSW 3 96,127,367 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- GCTTATTCCGCCATGTCTGG -3'
(R):5'- TACAAAGGAGCTAGCTAACGC -3'

Sequencing Primer
(F):5'- TCTGGCCGTGGCAAACAAG -3'
(R):5'- TAACGCGCCAGTTTGTGAC -3'
Posted On 2016-10-26