Incidental Mutation 'IGL01685:Macroh2a2'
ID 103924
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Macroh2a2
Ensembl Gene ENSMUSG00000020086
Gene Name macroH2A.2 histone
Synonyms H2afy2
Accession Numbers
Essential gene? Possibly essential (E-score: 0.570) question?
Stock # IGL01685
Quality Score
Status
Chromosome 10
Chromosomal Location 61574444-61619926 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 61593550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 42 (S42N)
Ref Sequence ENSEMBL: ENSMUSP00000020283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020283]
AlphaFold Q8CCK0
Predicted Effect probably damaging
Transcript: ENSMUST00000020283
AA Change: S42N

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000020283
Gene: ENSMUSG00000020086
AA Change: S42N

DomainStartEndE-ValueType
H2A 3 120 5.3e-67 SMART
low complexity region 134 151 N/A INTRINSIC
low complexity region 157 167 N/A INTRINSIC
Pfam:Macro 216 330 1.8e-28 PFAM
low complexity region 339 345 N/A INTRINSIC
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. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and may participate in stable X chromosome inactivation. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a knock-out allele do not exhibit any developmental or reproductive abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 G T 15: 94,301,327 (GRCm39) R66S possibly damaging Het
Adamtsl4 A G 3: 95,591,905 (GRCm39) V61A possibly damaging Het
Arnt A G 3: 95,381,992 (GRCm39) Y195C probably damaging Het
Brd3 A G 2: 27,349,500 (GRCm39) I351T probably damaging Het
Cd28 T A 1: 60,802,307 (GRCm39) Y75* probably null Het
Cyfip2 A G 11: 46,098,315 (GRCm39) probably benign Het
Dip2a T G 10: 76,163,583 (GRCm39) E39A probably damaging Het
Dst T C 1: 34,209,533 (GRCm39) V1200A probably damaging Het
Dync2h1 A G 9: 7,142,297 (GRCm39) L1216P probably damaging Het
Ecm2 A T 13: 49,682,374 (GRCm39) I468F probably damaging Het
Gucy1b1 C A 3: 81,942,592 (GRCm39) V517F probably benign Het
H2-T23 T C 17: 36,343,536 (GRCm39) Q9R probably benign Het
Huwe1 T C X: 150,681,666 (GRCm39) probably benign Het
Hydin A T 8: 111,081,665 (GRCm39) K354* probably null Het
Ighv14-2 A T 12: 113,958,121 (GRCm39) S107T probably damaging Het
Klk1b8 A C 7: 43,604,294 (GRCm39) K254T possibly damaging Het
Lama3 T A 18: 12,586,937 (GRCm39) probably benign Het
Mbd6 G T 10: 127,120,601 (GRCm39) probably benign Het
Mob1a A T 6: 83,309,485 (GRCm39) E32D probably benign Het
Mrps27 A T 13: 99,551,428 (GRCm39) Q397L possibly damaging Het
Or8b3 T C 9: 38,314,317 (GRCm39) I46T possibly damaging Het
Pcdhb18 A C 18: 37,624,984 (GRCm39) K771N probably benign Het
Pcdhgc5 T G 18: 37,954,808 (GRCm39) L694R probably damaging Het
Pi4ka A T 16: 17,143,066 (GRCm39) D815E probably benign Het
Plin4 T C 17: 56,414,362 (GRCm39) K88E probably damaging Het
Rint1 A T 5: 23,992,832 (GRCm39) probably benign Het
Ssbp1 A G 6: 40,453,699 (GRCm39) T82A probably damaging Het
Trpm5 A T 7: 142,636,091 (GRCm39) S558T probably benign Het
Tti1 A G 2: 157,842,705 (GRCm39) S775P probably benign Het
Zic3 T C X: 57,077,088 (GRCm39) V183A probably benign Het
Other mutations in Macroh2a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
lown UTSW 10 61,593,614 (GRCm39) missense probably damaging 0.99
R0551:Macroh2a2 UTSW 10 61,576,945 (GRCm39) missense probably damaging 0.99
R1371:Macroh2a2 UTSW 10 61,585,112 (GRCm39) missense possibly damaging 0.70
R4830:Macroh2a2 UTSW 10 61,575,132 (GRCm39) missense possibly damaging 0.95
R5394:Macroh2a2 UTSW 10 61,587,466 (GRCm39) missense possibly damaging 0.89
R5541:Macroh2a2 UTSW 10 61,583,496 (GRCm39) missense probably benign 0.20
R6029:Macroh2a2 UTSW 10 61,583,541 (GRCm39) missense possibly damaging 0.75
R6498:Macroh2a2 UTSW 10 61,593,614 (GRCm39) missense probably damaging 0.99
R6735:Macroh2a2 UTSW 10 61,577,046 (GRCm39) missense probably damaging 0.98
R7139:Macroh2a2 UTSW 10 61,593,674 (GRCm39) start codon destroyed unknown
R8753:Macroh2a2 UTSW 10 61,585,113 (GRCm39) missense possibly damaging 0.85
R8955:Macroh2a2 UTSW 10 61,593,610 (GRCm39) missense probably damaging 0.98
Z1177:Macroh2a2 UTSW 10 61,575,129 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21