Incidental Mutation 'IGL02503:H2bc21'
ID 296169
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2bc21
Ensembl Gene ENSMUSG00000068854
Gene Name H2B clustered histone 21
Synonyms Hist2h2be
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.254) question?
Stock # IGL02503
Quality Score
Status
Chromosome 3
Chromosomal Location 96128435-96131054 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96128539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 20 (T20A)
Ref Sequence ENSEMBL: ENSMUSP00000088287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073115] [ENSMUST00000090781] [ENSMUST00000090782] [ENSMUST00000177442]
AlphaFold Q64524
Predicted Effect probably benign
Transcript: ENSMUST00000073115
SMART Domains Protein: ENSMUSP00000072858
Gene: ENSMUSG00000063689

DomainStartEndE-ValueType
H2A 3 123 8.91e-83 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000090781
AA Change: T20A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000088287
Gene: ENSMUSG00000068854
AA Change: T20A

DomainStartEndE-ValueType
low complexity region 5 18 N/A INTRINSIC
H2B 28 124 1.14e-71 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000090782
SMART Domains Protein: ENSMUSP00000088288
Gene: ENSMUSG00000068855

DomainStartEndE-ValueType
H2A 3 123 1.1e-82 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148335
Predicted Effect probably benign
Transcript: ENSMUST00000177442
SMART Domains Protein: ENSMUSP00000134765
Gene: ENSMUSG00000015943

DomainStartEndE-ValueType
low complexity region 20 35 N/A INTRINSIC
Pfam:BolA 40 113 7.8e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197012
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 encodes a replication-dependent histone that is a member of the histone H2B family, and generates two transcripts through the use of a putative stem-loop termination motif, and the polyA addition motif. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit impaired olfactory function and an increased lifespan of mature olfactory sensory neurons associated with decreased neuron apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 A T 14: 56,008,962 (GRCm39) W822R probably damaging Het
Ago4 A T 4: 126,390,598 (GRCm39) Y807* probably null Het
Alkbh8 G A 9: 3,347,852 (GRCm39) G215D probably damaging Het
Cfap57 C T 4: 118,426,545 (GRCm39) probably null Het
Cspg4 G A 9: 56,804,687 (GRCm39) V1833M probably damaging Het
Cyp4f17 T C 17: 32,743,940 (GRCm39) probably null Het
Dapk1 T A 13: 60,909,621 (GRCm39) Y1411* probably null Het
Dmrtc1b T A X: 101,758,366 (GRCm39) S199T possibly damaging Het
Elk4 A G 1: 131,942,277 (GRCm39) N50D probably damaging Het
Filip1l T A 16: 57,391,938 (GRCm39) V604E probably benign Het
Fmo3 A T 1: 162,796,433 (GRCm39) H46Q probably benign Het
Fndc1 T A 17: 7,990,348 (GRCm39) Y1116F unknown Het
Fpr-rs3 T A 17: 20,844,817 (GRCm39) N108I probably damaging Het
Glmn A T 5: 107,710,644 (GRCm39) M316K probably damaging Het
Gm5591 C A 7: 38,219,433 (GRCm39) R480I probably damaging Het
Gm8122 G T 14: 43,092,645 (GRCm39) R39S unknown Het
Gprasp1 T A X: 134,703,279 (GRCm39) Y1157* probably null Het
Hsf1 T C 15: 76,382,870 (GRCm39) L370P probably benign Het
Iqsec1 T A 6: 90,645,770 (GRCm39) I809F probably damaging Het
Itsn1 G T 16: 91,686,092 (GRCm39) M54I possibly damaging Het
Klra2 T C 6: 131,207,057 (GRCm39) N184S probably benign Het
Lifr T A 15: 7,215,104 (GRCm39) V737E probably damaging Het
Lrpprc T C 17: 85,033,767 (GRCm39) T1037A probably benign Het
Map3k13 A T 16: 21,727,454 (GRCm39) I439F possibly damaging Het
Megf8 T C 7: 25,062,988 (GRCm39) V2448A possibly damaging Het
Mthfd1l T A 10: 4,033,824 (GRCm39) V737D probably damaging Het
Mtm1 A G X: 70,343,276 (GRCm39) T386A probably damaging Het
Muc5b T C 7: 141,421,404 (GRCm39) V4298A probably benign Het
Or10ag2 T G 2: 87,248,636 (GRCm39) F81L probably benign Het
Or5w18 A T 2: 87,632,864 (GRCm39) I44F probably benign Het
Or8k21 C T 2: 86,144,983 (GRCm39) G216R possibly damaging Het
Plch1 A G 3: 63,605,285 (GRCm39) S1531P probably damaging Het
Poc1b T A 10: 98,980,210 (GRCm39) probably benign Het
Rictor T A 15: 6,815,924 (GRCm39) N1065K probably benign Het
Rpsa A G 9: 119,957,659 (GRCm39) E35G possibly damaging Het
Scfd1 T A 12: 51,469,704 (GRCm39) D416E possibly damaging Het
Sdad1 A T 5: 92,449,661 (GRCm39) probably benign Het
Skor1 A G 9: 63,053,397 (GRCm39) S191P probably damaging Het
Slc28a2 T C 2: 122,288,693 (GRCm39) F600L probably benign Het
Tmem229b-ps A G 10: 53,351,250 (GRCm39) noncoding transcript Het
Top2b A G 14: 16,407,163 (GRCm38) M678V possibly damaging Het
Ttn T C 2: 76,617,107 (GRCm39) N8092S probably damaging Het
Ttn C T 2: 76,572,033 (GRCm39) V26287I probably damaging Het
Tulp4 T A 17: 6,263,666 (GRCm39) I345N probably damaging Het
U2surp C T 9: 95,384,622 (GRCm39) V21I probably benign Het
Ubr5 T C 15: 38,018,564 (GRCm39) T859A possibly damaging Het
Ubr5 T C 15: 38,018,558 (GRCm39) K861E probably damaging Het
Unc13d A G 11: 115,959,628 (GRCm39) V617A possibly damaging Het
Vmn2r10 T C 5: 109,151,341 (GRCm39) Y91C probably damaging Het
Vmn2r120 T A 17: 57,816,385 (GRCm39) I657F probably benign Het
Wwc2 T C 8: 48,302,418 (GRCm39) R931G unknown Het
Other mutations in H2bc21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02941:H2bc21 APN 3 96,128,732 (GRCm39) missense possibly damaging 0.70
R0648:H2bc21 UTSW 3 96,128,851 (GRCm39) missense probably benign
R2414:H2bc21 UTSW 3 96,128,750 (GRCm39) missense possibly damaging 0.50
R5783:H2bc21 UTSW 3 96,128,615 (GRCm39) missense possibly damaging 0.86
R7002:H2bc21 UTSW 3 96,128,689 (GRCm39) missense probably benign 0.00
R7782:H2bc21 UTSW 3 96,128,487 (GRCm39) splice site probably null
R9173:H2bc21 UTSW 3 96,128,615 (GRCm39) missense possibly damaging 0.86
R9318:H2bc21 UTSW 3 96,128,681 (GRCm39) missense probably benign 0.03
Posted On 2015-04-16