Incidental Mutation 'IGL00429:Hist1h2bm'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hist1h2bm
Ensembl Gene ENSMUSG00000114279
Gene Namehistone cluster 1, H2bm
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.150) question?
Stock #IGL00429
Quality Score
Chromosomal Location21722044-21722567 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 21722140 bp
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]
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

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

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: 77,893,839 probably benign Het
4933411K16Rik T C 19: 42,052,544 L38P probably damaging Het
Abca1 A G 4: 53,059,255 probably null Het
Abca15 T A 7: 120,397,054 I1401N probably damaging Het
Adam3 A C 8: 24,694,278 Y569D probably damaging Het
Ap2a1 T C 7: 44,905,768 S458G probably damaging Het
Asxl3 C T 18: 22,525,223 P2097S probably benign Het
AW551984 T C 9: 39,592,849 D607G probably benign Het
Ccdc158 C A 5: 92,657,881 M338I probably benign Het
Cdh23 A G 10: 60,421,141 S735P probably damaging Het
Cdh9 T C 15: 16,828,362 V180A probably damaging Het
Cyp4a31 A T 4: 115,574,974 probably benign Het
Dus4l A G 12: 31,641,669 V180A probably benign Het
Dysf A T 6: 84,189,844 T1672S probably damaging Het
F830016B08Rik T A 18: 60,300,268 L141Q probably damaging Het
Fhod3 A G 18: 24,994,540 E313G probably damaging Het
Gm4884 A G 7: 41,044,385 T593A probably benign Het
Il18r1 G A 1: 40,498,652 E526K possibly damaging Het
Lama4 A T 10: 39,011,026 H109L possibly damaging Het
Mab21l1 A C 3: 55,783,136 Q48P probably damaging Het
Magi3 T A 3: 104,014,978 K1474N probably damaging Het
Mre11a T C 9: 14,802,813 F237L probably damaging Het
Mst1r A T 9: 107,913,250 probably benign Het
Myh2 C T 11: 67,180,790 Q478* probably null Het
Mylip C A 13: 45,408,567 P282T probably benign Het
Mymk T C 2: 27,062,787 Y103C probably damaging Het
Necab1 A T 4: 15,052,656 N107K probably damaging Het
Pclo T C 5: 14,680,739 probably benign Het
Phgdh T C 3: 98,328,315 K129E probably damaging Het
Plxna4 T C 6: 32,162,091 Y1714C probably damaging Het
Pm20d2 A G 4: 33,187,205 probably benign Het
Ppfibp2 A G 7: 107,697,594 T172A probably benign Het
Prkca T C 11: 108,343,508 T54A probably benign Het
Prlr A G 15: 10,328,324 D295G probably benign Het
Rdh12 A G 12: 79,211,402 I68V probably benign Het
Slc14a2 A G 18: 78,150,438 F850L possibly damaging Het
Smad2 A T 18: 76,298,495 S185C possibly damaging Het
Soga1 A C 2: 157,030,864 F909C probably damaging Het
Trav13n-4 T A 14: 53,363,831 L19Q probably benign Het
Ush2a T A 1: 188,400,114 C844* probably null Het
Vwce T A 19: 10,664,511 probably null Het
Wdr95 T C 5: 149,595,244 probably benign Het
Zfp143 T C 7: 110,091,772 I510T probably damaging Het
Zfp930 G T 8: 69,227,982 K90N probably damaging Het
Other mutations in Hist1h2bm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Hist1h2bm APN 13 21722375 missense possibly damaging 0.92
IGL02890:Hist1h2bm APN 13 21722186 missense probably benign
IGL03397:Hist1h2bm APN 13 21722381 missense possibly damaging 0.81
R5910:Hist1h2bm UTSW 13 21722300 missense probably benign
R8158:Hist1h2bm UTSW 13 21722461 missense probably benign 0.01
Posted On2012-04-20