Incidental Mutation 'R5106:Macroh2a1'
ID 392646
Institutional Source Beutler Lab
Gene Symbol Macroh2a1
Ensembl Gene ENSMUSG00000015937
Gene Name macroH2A.1 histone
Synonyms mH2a1, MACROH2A1.2, H2AF12M, H2afy
MMRRC Submission 042694-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5106 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 56221435-56283439 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56236106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 213 (V213A)
Ref Sequence ENSEMBL: ENSMUSP00000038221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016081] [ENSMUST00000045788]
AlphaFold Q9QZQ8
Predicted Effect probably benign
Transcript: ENSMUST00000016081
SMART Domains Protein: ENSMUSP00000016081
Gene: ENSMUSG00000015937

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 possibly damaging
Transcript: ENSMUST00000045788
AA Change: V213A

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000038221
Gene: ENSMUSG00000015937
AA Change: V213A

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: ENSMUST00000137835
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141589
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225993
Meta Mutation Damage Score 0.5920 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.0%
Validation Efficiency 100% (62/62)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C1qtnf2 G A 11: 43,376,880 (GRCm39) R84Q possibly damaging Het
Carmil2 T A 8: 106,420,638 (GRCm39) probably null Het
Cenpf A T 1: 189,416,005 (GRCm39) C107S probably benign Het
Cideb T C 14: 55,991,982 (GRCm39) M191V probably benign Het
Cope C A 8: 70,763,097 (GRCm39) R213S possibly damaging Het
Ctcf T C 8: 106,408,130 (GRCm39) probably benign Het
Daam2 T C 17: 49,783,489 (GRCm39) Y647C probably damaging Het
Dlg2 T C 7: 92,091,894 (GRCm39) Y920H probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Fdps C A 3: 89,006,710 (GRCm39) R127L probably damaging Het
G6pd2 C T 5: 61,967,695 (GRCm39) T490I probably benign Het
Gm6401 A G 14: 41,787,463 (GRCm39) M121T probably damaging Het
Gnl2 T C 4: 124,947,329 (GRCm39) probably null Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Gtf2a1l A G 17: 89,002,073 (GRCm39) S310G possibly damaging Het
Igdcc4 T C 9: 65,031,983 (GRCm39) F500L probably damaging Het
Lgr4 A T 2: 109,827,940 (GRCm39) H207L probably damaging Het
Llcfc1 A G 6: 41,662,310 (GRCm39) M105V probably benign Het
Map2k3 A G 11: 60,832,708 (GRCm39) K18E probably damaging Het
Mccc1 T A 3: 36,026,713 (GRCm39) D528V probably benign Het
Nedd4l C T 18: 65,326,376 (GRCm39) T568M probably damaging Het
Nr3c1 A C 18: 39,619,654 (GRCm39) I211S possibly damaging Het
Nudt5 C T 2: 5,859,640 (GRCm39) probably benign Het
Or2ag20 T A 7: 106,464,595 (GRCm39) M136K probably damaging Het
Or5d46 T C 2: 88,170,454 (GRCm39) Y182H probably benign Het
Or6c202 T C 10: 128,996,106 (GRCm39) Y249C probably damaging Het
Or9k2b A T 10: 130,016,177 (GRCm39) S191T probably benign Het
Pcid2 A T 8: 13,129,648 (GRCm39) F326I probably damaging Het
Pcnt A T 10: 76,237,278 (GRCm39) I1336N probably damaging Het
Pomk T C 8: 26,476,404 (GRCm39) D50G probably benign Het
Ppp2r2a T C 14: 67,260,546 (GRCm39) Y244C probably damaging Het
Ptprz1 A G 6: 23,000,027 (GRCm39) T706A probably benign Het
Rad54l G A 4: 115,956,961 (GRCm39) probably benign Het
Raph1 T C 1: 60,572,459 (GRCm39) D36G probably damaging Het
Rgs7 A G 1: 174,904,416 (GRCm39) S166P possibly damaging Het
Rnf183 C G 4: 62,346,465 (GRCm39) R111P probably damaging Het
Rp1l1 A T 14: 64,265,395 (GRCm39) D327V probably damaging Het
Rpl3l A G 17: 24,951,411 (GRCm39) Y156C probably damaging Het
Slc25a54 G T 3: 109,020,180 (GRCm39) C398F probably benign Het
Slc39a2 A G 14: 52,132,988 (GRCm39) *310W probably null Het
Slit3 T C 11: 35,503,194 (GRCm39) C464R probably damaging Het
Smu1 A T 4: 40,743,104 (GRCm39) F345I possibly damaging Het
Ssc5d T A 7: 4,939,664 (GRCm39) V700E probably benign Het
Stxbp3 T C 3: 108,702,243 (GRCm39) Y521C probably benign Het
Tenm4 T C 7: 96,492,356 (GRCm39) S1061P probably damaging Het
Thoc5 T C 11: 4,860,630 (GRCm39) S103P probably damaging Het
Tmem221 A G 8: 72,008,522 (GRCm39) F173L probably benign Het
Trit1 T C 4: 122,948,106 (GRCm39) probably benign Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Vmn2r106 T C 17: 20,499,395 (GRCm39) probably null Het
Vmn2r38 C A 7: 9,078,169 (GRCm39) V738L possibly damaging Het
Zfp160 T A 17: 21,247,023 (GRCm39) H524Q probably damaging Het
Zfp791 T A 8: 85,837,259 (GRCm39) K202* probably null Het
Zfp985 T A 4: 147,668,612 (GRCm39) S493R probably damaging Het
Zkscan7 T C 9: 122,725,198 (GRCm39) probably benign Het
Zwilch A C 9: 64,060,866 (GRCm39) F329V 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
R5161:Macroh2a1 UTSW 13 56,237,594 (GRCm39) missense probably benign 0.05
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'- AGTTTCCAAACCAGAAGTGCCC -3'
(R):5'- CTGGGCTCATATGTTGGAATCG -3'

Sequencing Primer
(F):5'- TTCACAACCCAGGGATGAAGGTC -3'
(R):5'- GCTCATATGTTGGAATCGACCAG -3'
Posted On 2016-06-15