Incidental Mutation 'R4830:H2afy2'
ID372747
Institutional Source Beutler Lab
Gene Symbol H2afy2
Ensembl Gene ENSMUSG00000020086
Gene NameH2A histone family, member Y2
SynonymsmacroH2A2
MMRRC Submission 042446-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.511) question?
Stock #R4830 (G1)
Quality Score225
Status Validated
Chromosome10
Chromosomal Location61738665-61784147 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 61739353 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 355 (D355N)
Ref Sequence ENSEMBL: ENSMUSP00000020283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020283] [ENSMUST00000067857] [ENSMUST00000080099] [ENSMUST00000099706] [ENSMUST00000105455]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020283
AA Change: D355N

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000020283
Gene: ENSMUSG00000020086
AA Change: D355N

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
Predicted Effect probably benign
Transcript: ENSMUST00000067857
SMART Domains Protein: ENSMUSP00000070054
Gene: ENSMUSG00000020085

DomainStartEndE-ValueType
Pfam:Pyr_redox_2 13 291 3.2e-20 PFAM
Pfam:K_oxygenase 89 193 1.4e-7 PFAM
Pfam:Pyr_redox 145 233 4e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000080099
SMART Domains Protein: ENSMUSP00000078998
Gene: ENSMUSG00000020085

DomainStartEndE-ValueType
Pfam:Pyr_redox_2 12 302 5.4e-43 PFAM
Pfam:K_oxygenase 94 190 5.2e-7 PFAM
Pfam:Pyr_redox 144 230 7.2e-10 PFAM
low complexity region 328 342 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099706
SMART Domains Protein: ENSMUSP00000097297
Gene: ENSMUSG00000020085

DomainStartEndE-ValueType
Pfam:Pyr_redox_2 13 291 3.2e-20 PFAM
Pfam:K_oxygenase 89 193 1.4e-7 PFAM
Pfam:Pyr_redox 145 233 4e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105455
SMART Domains Protein: ENSMUSP00000101095
Gene: ENSMUSG00000020085

DomainStartEndE-ValueType
Pfam:Pyr_redox_2 13 291 3.2e-20 PFAM
Pfam:K_oxygenase 89 193 1.4e-7 PFAM
Pfam:Pyr_redox 145 233 4e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140664
Meta Mutation Damage Score 0.2322 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 97% (71/73)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 C A 3: 121,760,284 G643V probably damaging Het
Adamtsl1 A G 4: 86,356,382 E1225G probably damaging Het
Agbl5 G A 5: 30,890,715 R111H probably damaging Het
Ankle2 A C 5: 110,242,013 K446Q probably damaging Het
Boc A C 16: 44,490,157 M800R probably damaging Het
Ccnt1 A T 15: 98,543,451 N645K probably damaging Het
Cd93 G A 2: 148,443,379 Q16* probably null Het
Cpsf4l G T 11: 113,709,502 probably benign Het
Cuzd1 T A 7: 131,318,054 D111V probably damaging Het
Dab2 T C 15: 6,427,527 C232R probably benign Het
Dmpk A T 7: 19,087,528 Y237F probably damaging Het
Dnah6 T A 6: 73,044,762 T3526S possibly damaging Het
Dock2 T C 11: 34,273,767 probably null Het
Dsp G A 13: 38,192,864 V1542I probably benign Het
Dst T A 1: 34,198,505 probably null Het
Esd T C 14: 74,741,160 L54S probably damaging Het
Exd1 C T 2: 119,520,326 A485T probably benign Het
Gm3604 A T 13: 62,369,043 N500K probably damaging Het
Gm7102 C T 19: 61,175,926 G24R unknown Het
Grhl2 T A 15: 37,335,659 probably null Het
Gsto1 C T 19: 47,864,391 R222C probably benign Het
Inpp4a T A 1: 37,371,780 M343K probably damaging Het
Itpripl2 T C 7: 118,491,057 Q93R probably benign Het
Jakmip2 G A 18: 43,567,143 T450I probably benign Het
Kdm6b A T 11: 69,403,794 I1186N unknown Het
Kif1a T C 1: 93,021,209 probably null Het
Klhl20 T C 1: 161,098,376 K434R probably benign Het
Lemd3 T C 10: 120,931,948 D697G probably damaging Het
Lipo1 A G 19: 33,776,587 S383P probably damaging Het
Ltn1 C A 16: 87,379,694 K1741N probably damaging Het
Lvrn A T 18: 46,905,351 T991S probably damaging Het
Mast3 C A 8: 70,788,915 R151L possibly damaging Het
Muc4 G C 16: 32,753,919 R1265P probably benign Het
Myoz1 T C 14: 20,655,309 K14E probably damaging Het
Neb G T 2: 52,192,520 Q5450K probably damaging Het
Nedd1 T A 10: 92,686,258 N639I probably damaging Het
Nlrp4e A T 7: 23,336,740 N673Y probably benign Het
Nop53 C T 7: 15,942,204 R190Q probably damaging Het
Notch4 T C 17: 34,570,118 Y468H probably damaging Het
Obscn T C 11: 59,067,607 T3507A probably damaging Het
Olfr724 T C 14: 49,960,224 N283D probably damaging Het
Opn5 T C 17: 42,611,296 H5R probably benign Het
Patl1 T C 19: 11,925,151 M349T probably benign Het
Phactr3 A G 2: 178,284,018 N362S probably damaging Het
Pirb C T 7: 3,717,603 G299S probably benign Het
Rapgef5 G A 12: 117,756,074 R579Q probably damaging Het
Rgl1 T C 1: 152,554,330 D234G probably benign Het
Serpinb3a C T 1: 107,048,586 E122K probably benign Het
Slc22a15 T C 3: 101,875,603 probably benign Het
Slc25a12 A T 2: 71,296,805 V344E probably damaging Het
Slc43a2 T C 11: 75,543,293 L99P probably damaging Het
Smim27 G T 4: 40,269,719 probably null Het
Smtn A G 11: 3,520,736 probably benign Het
Szt2 A T 4: 118,369,248 Y3001N unknown Het
Tgfbr3 G T 5: 107,109,719 P825T probably damaging Het
Tnpo3 T C 6: 29,568,938 T472A probably benign Het
Trf T A 9: 103,227,915 D66V probably damaging Het
Vmn1r124 A G 7: 21,259,699 C307R probably damaging Het
Vps13b T A 15: 35,452,224 F656Y possibly damaging Het
Zic1 G T 9: 91,362,531 S358R probably damaging Het
Other mutations in H2afy2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01685:H2afy2 APN 10 61757771 missense probably damaging 0.96
lown UTSW 10 61757835 missense probably damaging 0.99
R0551:H2afy2 UTSW 10 61741166 missense probably damaging 0.99
R1371:H2afy2 UTSW 10 61749333 missense possibly damaging 0.70
R5394:H2afy2 UTSW 10 61751687 missense possibly damaging 0.89
R5541:H2afy2 UTSW 10 61747717 missense probably benign 0.20
R6029:H2afy2 UTSW 10 61747762 missense possibly damaging 0.75
R6498:H2afy2 UTSW 10 61757835 missense probably damaging 0.99
R6735:H2afy2 UTSW 10 61741267 missense probably damaging 0.98
R7139:H2afy2 UTSW 10 61757895 start codon destroyed unknown
Z1177:H2afy2 UTSW 10 61739350 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGGAAGAGAGGCCCTTTG -3'
(R):5'- CCCCAGACTAGGAGAGAATTATACG -3'

Sequencing Primer
(F):5'- TTCACCAGGCAGGCAGGAC -3'
(R):5'- ATTATACGGTGGTGACAGGGGC -3'
Posted On2016-03-01