Incidental Mutation 'R4935:H2aj'
ID 380300
Institutional Source Beutler Lab
Gene Symbol H2aj
Ensembl Gene ENSMUSG00000060032
Gene Name H2J.A histone
Synonyms H2afj
MMRRC Submission 042535-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.375) question?
Stock # R4935 (G1)
Quality Score 93
Status Not validated
Chromosome 6
Chromosomal Location 136785246-136787072 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 136785681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 115 (V115E)
Ref Sequence ENSEMBL: ENSMUSP00000074142 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074556] [ENSMUST00000116514] [ENSMUST00000179285] [ENSMUST00000203982]
AlphaFold Q8R1M2
Predicted Effect possibly damaging
Transcript: ENSMUST00000074556
AA Change: V115E

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000074142
Gene: ENSMUSG00000060032
AA Change: V115E

DomainStartEndE-ValueType
H2A 3 123 2.32e-81 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116514
SMART Domains Protein: ENSMUSP00000112213
Gene: ENSMUSG00000030216

DomainStartEndE-ValueType
Pfam:Wbp11 12 94 1e-26 PFAM
low complexity region 191 209 N/A INTRINSIC
low complexity region 263 284 N/A INTRINSIC
low complexity region 344 367 N/A INTRINSIC
low complexity region 380 532 N/A INTRINSIC
low complexity region 549 565 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179285
SMART Domains Protein: ENSMUSP00000136357
Gene: ENSMUSG00000096010

DomainStartEndE-ValueType
H4 16 90 2.59e-29 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198368
Predicted Effect probably benign
Transcript: ENSMUST00000203982
AA Change: V115E

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000144974
Gene: ENSMUSG00000060032
AA Change: V115E

DomainStartEndE-ValueType
H2A 3 123 9.8e-84 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204833
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.8%
  • 20x: 86.9%
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 is located on chromosome 6 and encodes a replication-independent histone that is member of the histone H2A family. [provided by RefSeq, Nov 2015]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730071L15Rik A G 11: 6,150,442 (GRCm39) *138W probably null Het
Abcb1a T A 5: 8,787,773 (GRCm39) probably null Het
Acp6 T C 3: 97,079,060 (GRCm39) probably null Het
Adcyap1 A T 17: 93,511,541 (GRCm39) I172L probably benign Het
Adgrf1 A C 17: 43,606,130 (GRCm39) I85L probably benign Het
Afdn A T 17: 14,111,228 (GRCm39) T1604S probably benign Het
Angpt2 T C 8: 18,742,131 (GRCm39) Y475C probably damaging Het
Ank2 A G 3: 126,749,713 (GRCm39) S439P probably damaging Het
Ank3 T A 10: 69,812,033 (GRCm39) N366K probably damaging Het
Ankrd11 A G 8: 123,626,922 (GRCm39) S87P probably benign Het
Ano7 T A 1: 93,323,036 (GRCm39) S459T possibly damaging Het
Asxl3 G A 18: 22,656,369 (GRCm39) V1460M probably benign Het
Atg16l1 A C 1: 87,694,764 (GRCm39) N147T possibly damaging Het
Atp10a T C 7: 58,463,512 (GRCm39) V1015A probably damaging Het
Atxn7 T A 14: 14,100,401 (GRCm38) S696T probably benign Het
Babam1 C T 8: 71,852,446 (GRCm39) T184I probably benign Het
Blk A G 14: 63,618,711 (GRCm39) S175P possibly damaging Het
Col5a1 T A 2: 27,914,754 (GRCm39) F123L probably damaging Het
Csmd3 T C 15: 48,024,480 (GRCm39) Y496C probably damaging Het
Dnah3 A T 7: 119,615,700 (GRCm39) Y1676* probably null Het
Fdxacb1 T A 9: 50,683,243 (GRCm39) M402K probably benign Het
Frmd5 A G 2: 121,393,405 (GRCm39) V141A possibly damaging Het
Gapvd1 G A 2: 34,594,504 (GRCm39) R685* probably null Het
Grik2 A G 10: 49,116,826 (GRCm39) L645P probably damaging Het
Hrh3 T C 2: 179,743,061 (GRCm39) Y189C probably damaging Het
Kcnc2 A G 10: 112,108,133 (GRCm39) T175A probably benign Het
Kcnv2 A G 19: 27,300,332 (GRCm39) Y61C probably damaging Het
Kif24 T C 4: 41,394,939 (GRCm39) R645G probably damaging Het
Knl1 A G 2: 118,899,438 (GRCm39) I380V possibly damaging Het
Lamb2 A G 9: 108,364,700 (GRCm39) I1151M possibly damaging Het
Leo1 A G 9: 75,353,159 (GRCm39) D234G probably benign Het
Lrp1b T G 2: 41,388,405 (GRCm39) N407H probably benign Het
Matn2 T C 15: 34,428,831 (GRCm39) S732P probably damaging Het
Mrps30 A T 13: 118,523,431 (GRCm39) F114I possibly damaging Het
Or1l8 T C 2: 36,817,713 (GRCm39) N138D probably benign Het
Or4f17-ps1 G A 2: 111,357,793 (GRCm39) V45I probably damaging Het
Or5b123 T C 19: 13,597,066 (GRCm39) I180T probably benign Het
Oxr1 T C 15: 41,676,980 (GRCm39) V179A probably benign Het
Plaur A T 7: 24,166,141 (GRCm39) S71C possibly damaging Het
Plbd2 T C 5: 120,624,786 (GRCm39) N461D possibly damaging Het
Plcb2 T A 2: 118,549,396 (GRCm39) Y322F probably damaging Het
Prkab2 T C 3: 97,569,671 (GRCm39) V79A probably damaging Het
Ptpn3 A T 4: 57,197,568 (GRCm39) C774S probably damaging Het
Ring1 A C 17: 34,242,016 (GRCm39) L131R probably benign Het
Rxfp2 G A 5: 149,975,097 (GRCm39) probably null Het
Selenbp1 A T 3: 94,845,269 (GRCm39) I122F probably benign Het
Septin7 A G 9: 25,217,468 (GRCm39) H394R probably benign Het
Slc1a7 G A 4: 107,864,758 (GRCm39) V266I probably damaging Het
Slc2a10 A G 2: 165,359,578 (GRCm39) T481A probably benign Het
Spmap2l T C 5: 77,185,200 (GRCm39) probably null Het
Tapbp A G 17: 34,144,596 (GRCm39) M231V probably benign Het
Tbxas1 A T 6: 38,999,981 (GRCm39) N256I probably benign Het
Uimc1 A G 13: 55,240,998 (GRCm39) I30T probably damaging Het
Usp48 C A 4: 137,377,669 (GRCm39) N231K probably benign Het
Zfhx3 T G 8: 109,674,482 (GRCm39) V1844G possibly damaging Het
Znrf3 A T 11: 5,233,422 (GRCm39) C212S probably damaging Het
Other mutations in H2aj
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0294:H2aj UTSW 6 136,785,602 (GRCm39) missense probably damaging 1.00
R0295:H2aj UTSW 6 136,785,602 (GRCm39) missense probably damaging 1.00
R4895:H2aj UTSW 6 136,785,660 (GRCm39) missense possibly damaging 0.95
R6712:H2aj UTSW 6 136,785,524 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GAGCTGATTGGGTACGGTAC -3'
(R):5'- TCACGCTCAAAGTTGGAACTCG -3'

Sequencing Primer
(F):5'- GTACGGTACCTGCCTGTCAC -3'
(R):5'- GGAACTCGTCCCCACCC -3'
Posted On 2016-04-15