Incidental Mutation 'IGL01719:H2al2a'
ID105019
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2al2a
Ensembl Gene ENSMUSG00000062651
Gene NameH2A histone family member L2A
SynonymsTseg1, H2AL2, H2afb1, 1700113O17Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.207) question?
Stock #IGL01719
Quality Score
Status
Chromosome2
Chromosomal Location17996417-17996958 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 17996635 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 80 (H80L)
Ref Sequence ENSEMBL: ENSMUSP00000100618 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105001]
Predicted Effect probably damaging
Transcript: ENSMUST00000105001
AA Change: H80L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000100618
Gene: ENSMUSG00000062651
AA Change: H80L

DomainStartEndE-ValueType
H2A 2 110 2.19e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117063
Coding Region Coverage
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 encodes a replication-independent histone that is a member of the histone H2A family. [provided by RefSeq, Nov 2015]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 G A 6: 85,628,094 R1773Q probably benign Het
Ankk1 A G 9: 49,416,781 V366A probably benign Het
Antxr2 C T 5: 97,948,273 R384Q possibly damaging Het
Cdh13 G A 8: 118,675,188 V110M probably benign Het
Ctnna2 T A 6: 77,636,975 K198* probably null Het
Dpf3 C A 12: 83,294,433 S223I probably damaging Het
Galnt5 A G 2: 57,998,543 R52G probably damaging Het
Gm4787 G A 12: 81,377,174 R737C possibly damaging Het
Grin2b T A 6: 135,733,381 I1056F probably damaging Het
Hipk3 T C 2: 104,437,089 H601R possibly damaging Het
Hivep2 T C 10: 14,130,523 L955P probably damaging Het
Jund C T 8: 70,699,236 A60V possibly damaging Het
Klhdc7a A G 4: 139,966,550 L362P probably damaging Het
Lpar5 T G 6: 125,082,006 V230G possibly damaging Het
Lrba C T 3: 86,327,596 probably benign Het
Olfr739 T C 14: 50,424,561 F14S possibly damaging Het
Pcdhb5 T G 18: 37,321,022 S152A probably benign Het
Plekha5 A C 6: 140,570,129 E702D probably damaging Het
Ppt1 A G 4: 122,844,067 Y66C probably damaging Het
S1pr5 C A 9: 21,243,954 R392L probably benign Het
Slc37a2 T C 9: 37,234,178 T410A probably damaging Het
St18 A G 1: 6,845,796 probably benign Het
Taar7d T A 10: 24,027,967 M249K probably benign Het
Vwa5b2 T C 16: 20,597,433 probably null Het
Zan T A 5: 137,395,654 T4512S unknown Het
Other mutations in H2al2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6738:H2al2a UTSW 2 17996618 missense possibly damaging 0.82
Posted On2014-01-21