Incidental Mutation 'R5161:Macroh2a1'
ID 397014
Institutional Source Beutler Lab
Gene Symbol Macroh2a1
Ensembl Gene ENSMUSG00000015937
Gene Name macroH2A.1 histone
Synonyms mH2a1, MACROH2A1.2, H2AF12M, H2afy
MMRRC Submission 042743-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5161 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 56221435-56283439 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56237594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 222 (D222G)
Ref Sequence ENSEMBL: ENSMUSP00000016081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016081] [ENSMUST00000045788]
AlphaFold Q9QZQ8
Predicted Effect probably benign
Transcript: ENSMUST00000016081
AA Change: D222G

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000016081
Gene: ENSMUSG00000015937
AA Change: D222G

DomainStartEndE-ValueType
H2A 1 120 3.52e-72 SMART
low complexity region 130 163 N/A INTRINSIC
A1pp 196 330 2.72e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000045788
SMART Domains Protein: ENSMUSP00000038221
Gene: ENSMUSG00000015937

DomainStartEndE-ValueType
H2A 1 120 3.52e-72 SMART
low complexity region 130 163 N/A INTRINSIC
A1pp 196 327 4.88e-39 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141589
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225993
Meta Mutation Damage Score 0.0982 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (56/57)
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 participates in stable X chromosome inactivation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for one knock-out allele are viable and fertile and display no gross phenotypic abnormalities. Mice homozygous for a different knock-out allele exhibit female-specific hepatic steatosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,055,344 (GRCm39) E27* probably null Het
4930407I10Rik G T 15: 81,947,542 (GRCm39) E480* probably null Het
Acad11 T C 9: 104,001,227 (GRCm39) I591T probably benign Het
Acsbg3 A T 17: 57,189,888 (GRCm39) I305F possibly damaging Het
Adamts13 G A 2: 26,883,020 (GRCm39) E857K probably benign Het
Atf2 A C 2: 73,660,134 (GRCm39) probably null Het
Cass4 C A 2: 172,274,244 (GRCm39) A675E probably damaging Het
Coa8 C A 12: 111,689,208 (GRCm39) Q97K possibly damaging Het
Ctsd A T 7: 141,930,881 (GRCm39) L283Q probably damaging Het
Ddrgk1 A T 2: 130,505,296 (GRCm39) M1K probably null Het
Dipk1b C T 2: 26,526,260 (GRCm39) T398M possibly damaging Het
Dock1 G A 7: 134,335,791 (GRCm39) A62T possibly damaging Het
Ehmt1 T C 2: 24,748,207 (GRCm39) D407G possibly damaging Het
Eif1ad17 T A 12: 87,978,887 (GRCm39) D90E possibly damaging Het
Eml6 A G 11: 29,974,467 (GRCm39) V37A probably damaging Het
Fam20a C T 11: 109,564,196 (GRCm39) R519Q probably benign Het
Fat1 A G 8: 45,405,549 (GRCm39) T767A probably benign Het
Fbxl8 A T 8: 105,995,538 (GRCm39) H350L possibly damaging Het
Gm10226 A C 17: 21,910,834 (GRCm39) Q23P possibly damaging Het
Gm38706 A T 6: 130,459,868 (GRCm39) noncoding transcript Het
Gpatch2l G T 12: 86,313,950 (GRCm39) R362L probably benign Het
Hyal5 A T 6: 24,891,602 (GRCm39) D472V probably benign Het
Ighv5-9-1 T C 12: 113,699,777 (GRCm39) S102G possibly damaging Het
Itpripl1 A C 2: 126,983,777 (GRCm39) L115R probably damaging Het
Itsn1 G A 16: 91,705,726 (GRCm39) C169Y possibly damaging Het
Krt88 T A 15: 101,348,349 (GRCm39) C12S probably benign Het
Muc4 G A 16: 32,582,895 (GRCm39) V2557M probably damaging Het
Myh7b G C 2: 155,474,293 (GRCm39) R1669S possibly damaging Het
Nbeal2 G T 9: 110,458,936 (GRCm39) Q1996K probably benign Het
Obscn T C 11: 58,919,430 (GRCm39) E6205G probably damaging Het
Obscn A G 11: 58,955,136 (GRCm39) Y3926H possibly damaging Het
Or14a259 T C 7: 86,013,546 (GRCm39) probably null Het
Or5an10 A T 19: 12,276,153 (GRCm39) S114R probably damaging Het
P2ry2 A T 7: 100,648,136 (GRCm39) Y56* probably null Het
Pate10 T A 9: 35,652,884 (GRCm39) L42* probably null Het
Pde1a T C 2: 79,708,488 (GRCm39) N242S probably null Het
Pik3cg C T 12: 32,254,977 (GRCm39) E337K possibly damaging Het
Plxna2 A G 1: 194,433,712 (GRCm39) N587S probably benign Het
Pmpca T C 2: 26,285,183 (GRCm39) probably null Het
Ptpn4 C T 1: 119,635,593 (GRCm39) W370* probably null Het
Qki A T 17: 10,434,419 (GRCm39) probably null Het
Rapgef3 A G 15: 97,655,606 (GRCm39) V427A probably damaging Het
Rbbp8 T G 18: 11,855,171 (GRCm39) D465E probably damaging Het
Scn2a A G 2: 65,594,935 (GRCm39) K1928R probably benign Het
Slc5a5 A C 8: 71,341,492 (GRCm39) C346G probably damaging Het
Spata2l A G 8: 123,962,288 (GRCm39) L91P probably damaging Het
Syt3 C A 7: 44,045,439 (GRCm39) H560N possibly damaging Het
Timm23 G A 14: 31,915,882 (GRCm39) P63L probably damaging Het
Tmem191 T C 16: 17,094,743 (GRCm39) S108P possibly damaging Het
Ttc21b A G 2: 66,059,367 (GRCm39) C545R probably damaging Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Usp17ld A T 7: 102,899,579 (GRCm39) L451* probably null Het
Vmn1r15 T C 6: 57,235,497 (GRCm39) Y122H probably benign Het
Vxn G T 1: 9,692,902 (GRCm39) G145* probably null Het
Zfp1002 A T 2: 150,097,135 (GRCm39) I98K probably damaging Het
Other mutations in Macroh2a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00954:Macroh2a1 APN 13 56,222,132 (GRCm39) missense possibly damaging 0.75
IGL01294:Macroh2a1 APN 13 56,222,113 (GRCm39) missense probably damaging 1.00
IGL02505:Macroh2a1 APN 13 56,222,143 (GRCm39) missense probably damaging 1.00
IGL02994:Macroh2a1 APN 13 56,252,112 (GRCm39) splice site probably benign
R0270:Macroh2a1 UTSW 13 56,243,927 (GRCm39) splice site probably benign
R0988:Macroh2a1 UTSW 13 56,231,109 (GRCm39) critical splice acceptor site probably null
R1464:Macroh2a1 UTSW 13 56,230,949 (GRCm39) missense probably damaging 0.98
R1464:Macroh2a1 UTSW 13 56,230,949 (GRCm39) missense probably damaging 0.98
R1638:Macroh2a1 UTSW 13 56,252,722 (GRCm39) missense probably damaging 1.00
R1782:Macroh2a1 UTSW 13 56,222,134 (GRCm39) missense probably damaging 0.99
R1850:Macroh2a1 UTSW 13 56,244,052 (GRCm39) splice site probably benign
R1860:Macroh2a1 UTSW 13 56,231,017 (GRCm39) missense probably damaging 1.00
R2228:Macroh2a1 UTSW 13 56,232,075 (GRCm39) missense probably damaging 1.00
R4674:Macroh2a1 UTSW 13 56,230,997 (GRCm39) missense possibly damaging 0.91
R5102:Macroh2a1 UTSW 13 56,243,936 (GRCm39) critical splice donor site probably null
R5106:Macroh2a1 UTSW 13 56,236,106 (GRCm39) missense possibly damaging 0.75
R5862:Macroh2a1 UTSW 13 56,222,084 (GRCm39) missense probably damaging 1.00
R6165:Macroh2a1 UTSW 13 56,252,268 (GRCm39) missense probably damaging 0.97
R6588:Macroh2a1 UTSW 13 56,252,302 (GRCm39) missense possibly damaging 0.90
R6994:Macroh2a1 UTSW 13 56,237,643 (GRCm39) missense probably benign 0.11
R7669:Macroh2a1 UTSW 13 56,276,146 (GRCm39) missense probably damaging 1.00
R9152:Macroh2a1 UTSW 13 56,232,004 (GRCm39) frame shift probably null
R9732:Macroh2a1 UTSW 13 56,243,976 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- GAGTGAGTCAATGCTCAGGG -3'
(R):5'- TGAAGTAGACCCACACTAGCCG -3'

Sequencing Primer
(F):5'- GAGTCAATGCTCAGGGTCTACAATC -3'
(R):5'- GCCCTGTGCACTGCGAG -3'
Posted On 2016-06-21