Incidental Mutation 'R2228:Macroh2a1'
ID 239873
Institutional Source Beutler Lab
Gene Symbol Macroh2a1
Ensembl Gene ENSMUSG00000015937
Gene Name macroH2A.1 histone
Synonyms mH2a1, MACROH2A1.2, H2AF12M, H2afy
MMRRC Submission 040229-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2228 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 56221435-56283439 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 56232075 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 235 (G235S)
Ref Sequence ENSEMBL: ENSMUSP00000038221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016081] [ENSMUST00000045788]
AlphaFold Q9QZQ8
Predicted Effect probably damaging
Transcript: ENSMUST00000016081
AA Change: G238S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000016081
Gene: ENSMUSG00000015937
AA Change: G238S

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 damaging
Transcript: ENSMUST00000045788
AA Change: G235S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038221
Gene: ENSMUSG00000015937
AA Change: G235S

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
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 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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A G 2: 68,559,935 (GRCm39) T242A probably benign Het
Adam24 A T 8: 41,133,404 (GRCm39) I291L probably benign Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Adcy8 C A 15: 64,694,056 (GRCm39) R407L possibly damaging Het
Aldh3b2 C T 19: 4,031,133 (GRCm39) P461S probably benign Het
Araf T C X: 20,717,912 (GRCm39) F144L probably benign Het
Atp11b G T 3: 35,861,091 (GRCm39) D193Y probably damaging Het
Atp6v1b2 C A 8: 69,555,411 (GRCm39) probably null Het
Bclaf1 T A 10: 20,215,624 (GRCm39) probably benign Het
Cadps A G 14: 12,465,935 (GRCm38) Y987H probably benign Het
Capn6 T G X: 142,587,785 (GRCm39) T498P possibly damaging Het
Ccdc153 T A 9: 44,154,314 (GRCm39) L47Q probably damaging Het
Ccdc180 G T 4: 45,948,856 (GRCm39) probably null Het
Cep162 G T 9: 87,126,384 (GRCm39) T176K probably benign Het
Cpsf2 A G 12: 101,956,088 (GRCm39) D297G probably benign Het
Entpd8 T C 2: 24,975,028 (GRCm39) M453T probably damaging Het
Eprs1 T A 1: 185,099,734 (GRCm39) L18Q probably damaging Het
Fem1b G T 9: 62,704,020 (GRCm39) C413* probably null Het
Flrt1 T A 19: 7,072,723 (GRCm39) D608V probably damaging Het
Fstl5 C A 3: 76,389,659 (GRCm39) N285K probably damaging Het
Golga1 T C 2: 38,913,183 (GRCm39) D543G probably benign Het
Hivep2 A G 10: 14,004,107 (GRCm39) H235R probably damaging Het
Htr2c G C X: 145,977,186 (GRCm39) W325C probably damaging Het
Htr2c G T X: 145,977,188 (GRCm39) C326F probably damaging Het
Ifit1bl2 G T 19: 34,596,630 (GRCm39) L329M possibly damaging Het
Igsf9b T C 9: 27,244,792 (GRCm39) S920P probably damaging Het
Mcm8 T A 2: 132,662,041 (GRCm39) I125K possibly damaging Het
Micall1 C T 15: 79,014,036 (GRCm39) R644W probably damaging Het
Myo16 G A 8: 10,644,905 (GRCm39) D1746N possibly damaging Het
Myo9a A G 9: 59,801,463 (GRCm39) E1887G probably benign Het
Nbn A G 4: 15,970,904 (GRCm39) T296A probably benign Het
Nckap1l T C 15: 103,364,361 (GRCm39) probably null Het
Neb T C 2: 52,123,007 (GRCm39) R3734G probably benign Het
Nup93 C T 8: 95,030,819 (GRCm39) T305I probably benign Het
Or5bw2 A T 7: 6,573,802 (GRCm39) M271L probably benign Het
P2ry4 A G X: 99,637,553 (GRCm39) L115P probably damaging Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Ppp1r26 T C 2: 28,343,798 (GRCm39) F1143L possibly damaging Het
Ppp1r3c C A 19: 36,711,098 (GRCm39) R224L probably benign Het
Ptafr T G 4: 132,306,691 (GRCm39) I27R possibly damaging Het
Pwwp2b T C 7: 138,835,104 (GRCm39) C182R probably damaging Het
Reln A G 5: 22,192,076 (GRCm39) F1455L possibly damaging Het
Rufy1 C T 11: 50,288,611 (GRCm39) probably null Het
Samd9l T C 6: 3,376,910 (GRCm39) H117R probably benign Het
Sfxn4 C T 19: 60,839,458 (GRCm39) G200E probably damaging Het
Sipa1l3 T A 7: 29,077,364 (GRCm39) K803* probably null Het
Smim23 C A 11: 32,771,870 (GRCm39) Q65H probably damaging Het
Spata18 A T 5: 73,824,244 (GRCm39) I156L possibly damaging Het
Sppl2b G A 10: 80,701,451 (GRCm39) V389M probably damaging Het
Srbd1 T C 17: 86,292,651 (GRCm39) I973V probably damaging Het
Ssx2ip C T 3: 146,123,531 (GRCm39) P10L probably damaging Het
Taf2 A C 15: 54,928,042 (GRCm39) D120E possibly damaging Het
Tanc1 T C 2: 59,555,068 (GRCm39) L42S probably benign Het
Tex15 C A 8: 34,061,265 (GRCm39) H232N probably benign Het
Tg A T 15: 66,545,860 (GRCm39) Q194L probably damaging Het
Tnfrsf22 C T 7: 143,198,513 (GRCm39) probably null Het
Tro A T X: 149,438,477 (GRCm39) M60K probably benign Het
Ttc38 G A 15: 85,728,704 (GRCm39) V219I probably benign Het
U2af2 T C 7: 5,078,672 (GRCm39) I417T probably damaging Het
Ube2r2 C T 4: 41,174,044 (GRCm39) H61Y probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn1r113 C T 7: 20,521,832 (GRCm39) S208F probably damaging Het
Wdr35 A G 12: 9,024,955 (GRCm39) K16E possibly damaging Het
Wwp1 A T 4: 19,641,745 (GRCm39) Y437N probably damaging Het
Zdhhc4 A C 5: 143,306,162 (GRCm39) W189G probably damaging Het
Zfp512 A T 5: 31,622,919 (GRCm39) K73N 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
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
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'- ACAGGCCTTCTACCTTGCAG -3'
(R):5'- CCAGAAAGCACAGTGTTGC -3'

Sequencing Primer
(F):5'- TCTACCTTGCAGACAGTGGCAC -3'
(R):5'- TGGCCAAGGGTAAATCCTTC -3'
Posted On 2014-10-15