Incidental Mutation 'IGL02862:H2bc11'
ID 362194
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2bc11
Ensembl Gene ENSMUSG00000069300
Gene Name H2B clustered histone 11
Synonyms Hist1h2bj
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.279) question?
Stock # IGL02862
Quality Score
Status
Chromosome 13
Chromosomal Location 22227368-22227828 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 22227515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 39 (S39L)
Ref Sequence ENSEMBL: ENSMUSP00000106082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091741] [ENSMUST00000102977] [ENSMUST00000110452]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000091741
SMART Domains Protein: ENSMUSP00000089335
Gene: ENSMUSG00000069301

DomainStartEndE-ValueType
H2A 3 123 8.07e-81 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102977
SMART Domains Protein: ENSMUSP00000100042
Gene: ENSMUSG00000060639

DomainStartEndE-ValueType
H4 16 90 2.59e-29 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000110452
AA Change: S39L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106082
Gene: ENSMUSG00000069300
AA Change: S39L

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
H2B 28 124 4.64e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198508
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A G 7: 28,611,659 (GRCm39) probably benign Het
Adhfe1 T C 1: 9,624,036 (GRCm39) L170P probably damaging Het
Adprh C T 16: 38,266,396 (GRCm39) V249I probably benign Het
Akr1e1 T C 13: 4,659,092 (GRCm39) T11A possibly damaging Het
Arhgap23 A G 11: 97,347,306 (GRCm39) E668G probably damaging Het
Ccdc163 G A 4: 116,569,910 (GRCm39) probably null Het
Egfr A T 11: 16,833,562 (GRCm39) Y610F probably benign Het
Ercc3 T C 18: 32,376,255 (GRCm39) probably null Het
Fasn G T 11: 120,709,805 (GRCm39) H417Q possibly damaging Het
Gjd2 A G 2: 113,843,624 (GRCm39) probably benign Het
Grip2 C T 6: 91,765,085 (GRCm39) R59H probably damaging Het
Ighv1-43 A G 12: 114,909,859 (GRCm39) V21A probably damaging Het
Ltbp1 G A 17: 75,697,466 (GRCm39) G1368D probably damaging Het
Mogs G T 6: 83,092,871 (GRCm39) G104C probably damaging Het
Nfix T A 8: 85,440,475 (GRCm39) T472S probably benign Het
Or5m9 T C 2: 85,877,648 (GRCm39) V274A probably benign Het
Ovch2 A T 7: 107,394,138 (GRCm39) V105E probably damaging Het
Pex1 G T 5: 3,655,424 (GRCm39) probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Prl7a1 T C 13: 27,823,872 (GRCm39) T70A probably benign Het
Shmt2 C T 10: 127,354,743 (GRCm39) R311Q probably benign Het
St3gal4 A G 9: 34,963,543 (GRCm39) I255T probably benign Het
Taf8 C T 17: 47,805,339 (GRCm39) A187T probably damaging Het
Tm6sf1 T A 7: 81,520,504 (GRCm39) V62D probably damaging Het
Trpm5 A T 7: 142,636,262 (GRCm39) W537R probably damaging Het
Vmn2r101 T A 17: 19,831,867 (GRCm39) L621H probably damaging Het
Other mutations in H2bc11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02559:H2bc11 APN 13 22,227,533 (GRCm39) missense possibly damaging 0.87
R4716:H2bc11 UTSW 13 22,227,533 (GRCm39) missense possibly damaging 0.87
R4850:H2bc11 UTSW 13 22,227,421 (GRCm39) unclassified probably benign
R4851:H2bc11 UTSW 13 22,227,421 (GRCm39) unclassified probably benign
V8831:H2bc11 UTSW 13 22,227,451 (GRCm39) unclassified probably benign
Posted On 2015-12-18