Incidental Mutation 'IGL00429:H2bc14'
ID 5950
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2bc14
Ensembl Gene ENSMUSG00000114279
Gene Name H2B clustered histone 14
Synonyms Hist1h2bm
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # IGL00429
Quality Score
Status
Chromosome 13
Chromosomal Location 21906214-21906696 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21906310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 15 (S15P)
Ref Sequence ENSEMBL: ENSMUSP00000153457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110476] [ENSMUST00000188775] [ENSMUST00000224651]
AlphaFold P10854
Predicted Effect noncoding transcript
Transcript: ENSMUST00000091710
Predicted Effect possibly damaging
Transcript: ENSMUST00000110476
AA Change: S15P

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106102
Gene: ENSMUSG00000069303
AA Change: S15P

DomainStartEndE-ValueType
low complexity region 6 18 N/A INTRINSIC
H2B 28 124 1.43e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188775
SMART Domains Protein: ENSMUSP00000140394
Gene: ENSMUSG00000101355

DomainStartEndE-ValueType
H3 34 136 1.5e-75 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195897
Predicted Effect possibly damaging
Transcript: ENSMUST00000224651
AA Change: S15P

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009J07Rik G A 10: 77,729,673 (GRCm39) probably benign Het
4933411K16Rik T C 19: 42,040,983 (GRCm39) L38P probably damaging Het
Abca1 A G 4: 53,059,255 (GRCm39) probably null Het
Abca15 T A 7: 119,996,277 (GRCm39) I1401N probably damaging Het
Adam3 A C 8: 25,184,294 (GRCm39) Y569D probably damaging Het
Ap2a1 T C 7: 44,555,192 (GRCm39) S458G probably damaging Het
Asxl3 C T 18: 22,658,280 (GRCm39) P2097S probably benign Het
AW551984 T C 9: 39,504,145 (GRCm39) D607G probably benign Het
Ccdc158 C A 5: 92,805,740 (GRCm39) M338I probably benign Het
Cdh23 A G 10: 60,256,920 (GRCm39) S735P probably damaging Het
Cdh9 T C 15: 16,828,448 (GRCm39) V180A probably damaging Het
Cyp4a31 A T 4: 115,432,171 (GRCm39) probably benign Het
Dus4l A G 12: 31,691,668 (GRCm39) V180A probably benign Het
Dysf A T 6: 84,166,826 (GRCm39) T1672S probably damaging Het
F830016B08Rik T A 18: 60,433,340 (GRCm39) L141Q probably damaging Het
Fhod3 A G 18: 25,127,597 (GRCm39) E313G probably damaging Het
Gm4884 A G 7: 40,693,809 (GRCm39) T593A probably benign Het
Il18r1 G A 1: 40,537,812 (GRCm39) E526K possibly damaging Het
Lama4 A T 10: 38,887,022 (GRCm39) H109L possibly damaging Het
Mab21l1 A C 3: 55,690,557 (GRCm39) Q48P probably damaging Het
Magi3 T A 3: 103,922,294 (GRCm39) K1474N probably damaging Het
Mre11a T C 9: 14,714,109 (GRCm39) F237L probably damaging Het
Mst1r A T 9: 107,790,449 (GRCm39) probably benign Het
Mtcl2 A C 2: 156,872,784 (GRCm39) F909C probably damaging Het
Myh2 C T 11: 67,071,616 (GRCm39) Q478* probably null Het
Mylip C A 13: 45,562,043 (GRCm39) P282T probably benign Het
Mymk T C 2: 26,952,799 (GRCm39) Y103C probably damaging Het
Necab1 A T 4: 15,052,656 (GRCm39) N107K probably damaging Het
Pclo T C 5: 14,730,753 (GRCm39) probably benign Het
Phgdh T C 3: 98,235,631 (GRCm39) K129E probably damaging Het
Plxna4 T C 6: 32,139,026 (GRCm39) Y1714C probably damaging Het
Pm20d2 A G 4: 33,187,205 (GRCm39) probably benign Het
Ppfibp2 A G 7: 107,296,801 (GRCm39) T172A probably benign Het
Prkca T C 11: 108,234,334 (GRCm39) T54A probably benign Het
Prlr A G 15: 10,328,410 (GRCm39) D295G probably benign Het
Rdh12 A G 12: 79,258,176 (GRCm39) I68V probably benign Het
Slc14a2 A G 18: 78,193,653 (GRCm39) F850L possibly damaging Het
Smad2 A T 18: 76,431,566 (GRCm39) S185C possibly damaging Het
Trav13n-4 T A 14: 53,601,288 (GRCm39) L19Q probably benign Het
Ush2a T A 1: 188,132,311 (GRCm39) C844* probably null Het
Vwce T A 19: 10,641,875 (GRCm39) probably null Het
Wdr95 T C 5: 149,518,709 (GRCm39) probably benign Het
Zfp143 T C 7: 109,690,979 (GRCm39) I510T probably damaging Het
Zfp930 G T 8: 69,680,634 (GRCm39) K90N probably damaging Het
Other mutations in H2bc14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:H2bc14 APN 13 21,906,545 (GRCm39) missense possibly damaging 0.92
IGL02890:H2bc14 APN 13 21,906,356 (GRCm39) missense probably benign
IGL03397:H2bc14 APN 13 21,906,551 (GRCm39) missense possibly damaging 0.81
R5910:H2bc14 UTSW 13 21,906,470 (GRCm39) missense probably benign
R8158:H2bc14 UTSW 13 21,906,631 (GRCm39) missense probably benign 0.01
Posted On 2012-04-20