Incidental Mutation 'R8158:H2bc14'
ID 633389
Institutional Source Beutler Lab
Gene Symbol H2bc14
Ensembl Gene ENSMUSG00000114279
Gene Name H2B clustered histone 14
Synonyms Hist1h2bm
MMRRC Submission 067584-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R8158 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 21906214-21906696 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21906631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 122 (Y122H)
Ref Sequence ENSEMBL: ENSMUSP00000153457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000188775] [ENSMUST00000224651]
AlphaFold P10854
Predicted Effect probably benign
Transcript: ENSMUST00000188775
SMART Domains Protein: ENSMUSP00000140394
Gene: ENSMUSG00000101355

DomainStartEndE-ValueType
H3 34 136 1.5e-75 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000224651
AA Change: Y122H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 T A 1: 156,469,639 (GRCm39) S968T probably benign Het
Adcy8 T C 15: 64,655,655 (GRCm39) D608G probably benign Het
Adgb C T 10: 10,254,478 (GRCm39) V1162M probably benign Het
Agrn A G 4: 156,258,346 (GRCm39) V1040A probably benign Het
Amer3 A T 1: 34,626,741 (GRCm39) T327S possibly damaging Het
Apaf1 C T 10: 90,895,520 (GRCm39) C426Y probably benign Het
Bsn T C 9: 107,987,232 (GRCm39) D2840G unknown Het
Camsap1 A T 2: 25,834,440 (GRCm39) C406* probably null Het
Cbr2 A T 11: 120,621,123 (GRCm39) M158K probably damaging Het
Cgrrf1 T C 14: 47,091,192 (GRCm39) S239P probably benign Het
Clnk C A 5: 38,952,254 (GRCm39) probably null Het
Csad T C 15: 102,086,197 (GRCm39) M445V probably damaging Het
Dnajb7 T A 15: 81,291,600 (GRCm39) N246Y probably damaging Het
Dok6 T C 18: 89,492,071 (GRCm39) I169V probably benign Het
Il1f10 T G 2: 24,181,267 (GRCm39) I11R possibly damaging Het
Irs1 C T 1: 82,267,254 (GRCm39) V321M probably damaging Het
Itga9 T C 9: 118,706,211 (GRCm39) F938L probably damaging Het
Kif7 T C 7: 79,354,442 (GRCm39) D781G probably damaging Het
Klhl41 A T 2: 69,501,505 (GRCm39) N322I probably damaging Het
Krtap31-1 T G 11: 99,798,901 (GRCm39) C35G possibly damaging Het
Lsm11 A T 11: 45,824,824 (GRCm39) D234E probably benign Het
Med6 T C 12: 81,620,677 (GRCm39) K223R probably benign Het
Mfsd4b2 G A 10: 39,798,064 (GRCm39) T97I probably benign Het
Mrgpra1 A T 7: 46,985,204 (GRCm39) C158* probably null Het
Nr2e1 T C 10: 42,458,881 (GRCm39) T8A probably benign Het
Oas2 T C 5: 120,887,838 (GRCm39) M1V probably null Het
Or13a27 T C 7: 139,925,162 (GRCm39) I247V probably benign Het
Or14a260 T A 7: 85,984,885 (GRCm39) I240F probably benign Het
Or1e33 T A 11: 73,738,697 (GRCm39) M85L probably benign Het
Or8k17 T C 2: 86,066,504 (GRCm39) Y218C probably damaging Het
Or8w1 T A 2: 87,465,233 (GRCm39) N286I probably damaging Het
Otof C T 5: 30,537,538 (GRCm39) G1257D probably benign Het
Phf2 T C 13: 48,971,236 (GRCm39) T479A probably benign Het
Pik3c2a T C 7: 115,942,232 (GRCm39) N1516S probably benign Het
Qrich1 C A 9: 108,433,236 (GRCm39) T622K probably damaging Het
Rasip1 A G 7: 45,281,943 (GRCm39) K482R probably damaging Het
Rgl2 T C 17: 34,155,918 (GRCm39) F698L probably benign Het
Scarb1 T C 5: 125,380,201 (GRCm39) D124G probably benign Het
Sclt1 A G 3: 41,625,917 (GRCm39) I350T probably benign Het
Sec23ip T G 7: 128,369,364 (GRCm39) V696G probably damaging Het
Serpina1e G T 12: 103,917,354 (GRCm39) T105K probably benign Het
Sin3a A G 9: 57,020,828 (GRCm39) probably null Het
Slc34a2 A G 5: 53,218,182 (GRCm39) T154A probably damaging Het
Slc9a3 T C 13: 74,303,241 (GRCm39) L178P probably damaging Het
Smarca2 A C 19: 26,659,448 (GRCm39) I913L probably benign Het
Spaca7b T A 8: 11,715,056 (GRCm39) D46V probably damaging Het
Tcea3 G A 4: 136,001,027 (GRCm39) probably null Het
Tektl1 G C 10: 78,584,509 (GRCm39) Q338E probably benign Het
Tmcc1 T A 6: 116,020,435 (GRCm39) H339L Het
Trpm2 G T 10: 77,783,731 (GRCm39) H247Q probably damaging Het
Tyr T A 7: 87,121,724 (GRCm39) D356V probably damaging Het
Vmn2r54 A T 7: 12,349,888 (GRCm39) C565S probably damaging Het
Vmn2r82 A C 10: 79,213,636 (GRCm39) N74T probably benign Het
Zcchc4 T C 5: 52,973,260 (GRCm39) Y375H probably damaging Het
Zfhx3 T A 8: 109,675,353 (GRCm39) D2134E possibly damaging Het
Zfhx4 T A 3: 5,464,010 (GRCm39) Y1414* probably null Het
Zfp282 A T 6: 47,867,626 (GRCm39) E267D possibly damaging Het
Zfp442 A T 2: 150,251,096 (GRCm39) C269S possibly damaging Het
Zp3 T A 5: 136,014,418 (GRCm39) S246T probably benign Het
Other mutations in H2bc14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:H2bc14 APN 13 21,906,545 (GRCm39) missense possibly damaging 0.92
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
Predicted Primers PCR Primer
(F):5'- ATGGGCATCATGAACTCGTTCG -3'
(R):5'- TGGCAACCTTCCAGTTTGAG -3'

Sequencing Primer
(F):5'- GCATTACAACAAGCGCTC -3'
(R):5'- TATCAAAACCAGATTAACAGAAGGGC -3'
Posted On 2020-06-30