Incidental Mutation 'IGL00230:H2bc14'
ID 306809
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 # IGL00230
Quality Score
Status
Chromosome 13
Chromosomal Location 21906214-21906696 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 21906545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 93 (R93L)
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: R93L

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106102
Gene: ENSMUSG00000069303
AA Change: R93L

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: R93L

PolyPhen 2 Score 0.920 (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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bin1 C T 18: 32,553,160 (GRCm39) A215V probably damaging Het
Cfap91 A G 16: 38,156,704 (GRCm39) probably null Het
Cyp2j6 C T 4: 96,424,283 (GRCm39) R158H possibly damaging Het
Dnaaf2 T C 12: 69,243,540 (GRCm39) D507G probably benign Het
Fam13b T C 18: 34,620,149 (GRCm39) E245G possibly damaging Het
Gal3st1 A T 11: 3,949,070 (GRCm39) probably benign Het
Galnt5 A T 2: 57,888,985 (GRCm39) Q195L probably benign Het
Gfm2 A G 13: 97,291,950 (GRCm39) T229A probably benign Het
Gigyf1 A G 5: 137,521,007 (GRCm39) probably benign Het
Gm4353 G T 7: 115,682,789 (GRCm39) T264K probably damaging Het
Gsk3b A T 16: 38,049,069 (GRCm39) I389F probably benign Het
Htt A G 5: 34,956,752 (GRCm39) T194A probably benign Het
Ighg3 T C 12: 113,323,457 (GRCm39) Y273C unknown Het
Kdm5b T A 1: 134,548,693 (GRCm39) V1066D probably damaging Het
Kif1a G T 1: 92,982,656 (GRCm39) A707E probably damaging Het
Mars1 A G 10: 127,133,875 (GRCm39) M674T probably benign Het
Mas1 T C 17: 13,060,877 (GRCm39) D182G probably benign Het
Metap1d T A 2: 71,342,506 (GRCm39) D178E probably damaging Het
Nhsl1 T A 10: 18,403,357 (GRCm39) D1329E probably benign Het
Ninl T C 2: 150,808,161 (GRCm39) E289G probably damaging Het
Pmel G T 10: 128,551,958 (GRCm39) G264V possibly damaging Het
Ruvbl1 T C 6: 88,461,385 (GRCm39) probably benign Het
Scn8a T A 15: 100,853,413 (GRCm39) probably benign Het
Septin9 T C 11: 117,245,630 (GRCm39) probably benign Het
Sgpp1 G T 12: 75,762,968 (GRCm39) Y404* probably null Het
Sgsm1 T C 5: 113,392,930 (GRCm39) I788V probably benign Het
Slc13a4 A T 6: 35,266,759 (GRCm39) M112K probably benign Het
Slc22a29 T C 19: 8,195,177 (GRCm39) M153V probably benign Het
Slc9c1 T G 16: 45,393,752 (GRCm39) V565G possibly damaging Het
Sox4 C A 13: 29,136,956 (GRCm39) G17W probably damaging Het
Tec C T 5: 72,926,111 (GRCm39) A314T probably damaging Het
Tg A G 15: 66,699,139 (GRCm39) I803V probably benign Het
Trav9-1 A T 14: 53,725,850 (GRCm39) I55F probably benign Het
Ttll12 C A 15: 83,462,857 (GRCm39) E536D probably benign Het
Ubqln1 C A 13: 58,325,806 (GRCm39) E152* probably null Het
Wwtr1 G A 3: 57,370,912 (GRCm39) T338I probably benign Het
Zdhhc16 T C 19: 41,928,099 (GRCm39) F206S probably benign Het
Other mutations in H2bc14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:H2bc14 APN 13 21,906,310 (GRCm39) missense possibly damaging 0.93
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 2015-04-16