Incidental Mutation 'IGL01474:H2bc18'
ID 88393
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2bc18
Ensembl Gene ENSMUSG00000105827
Gene Name H2B clustered histone 18
Synonyms H2b-616, Hist2h2bb
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.490) question?
Stock # IGL01474
Quality Score
Status
Chromosome 3
Chromosomal Location 96177068-96177448 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 96177125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000096442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098843] [ENSMUST00000177113]
AlphaFold Q64525
Predicted Effect noncoding transcript
Transcript: ENSMUST00000051089
SMART Domains Protein: ENSMUSP00000059105
Gene: ENSMUSG00000050936

DomainStartEndE-ValueType
H2B 28 112 1.48e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000098843
SMART Domains Protein: ENSMUSP00000096442
Gene: ENSMUSG00000074403

DomainStartEndE-ValueType
H3 34 136 2.12e-75 SMART
Predicted Effect unknown
Transcript: ENSMUST00000177113
AA Change: T20A
SMART Domains Protein: ENSMUSP00000135427
Gene: ENSMUSG00000105827
AA Change: T20A

DomainStartEndE-ValueType
H2B 28 124 1.43e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177363
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193036
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. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A T 13: 91,920,902 (GRCm39) K336I possibly damaging Het
Acsbg2 A G 17: 57,168,621 (GRCm39) I166T possibly damaging Het
Adrm1b G T 3: 92,335,650 (GRCm39) Q351K probably damaging Het
Bpifc T A 10: 85,836,503 (GRCm39) M1L probably damaging Het
Ccnb2 T A 9: 70,326,305 (GRCm39) N44I probably benign Het
Cdc73 C T 1: 143,547,070 (GRCm39) V276M probably benign Het
Cnot7 A G 8: 40,960,490 (GRCm39) probably null Het
Col11a1 T A 3: 114,010,783 (GRCm39) probably benign Het
Coro1c T C 5: 114,020,216 (GRCm39) probably benign Het
Crocc A G 4: 140,762,703 (GRCm39) probably benign Het
Dync2h1 A T 9: 7,102,493 (GRCm39) Y396N probably benign Het
Gm2888 T A 14: 3,032,041 (GRCm38) D116E probably damaging Het
Gm29326 A T 7: 29,262,014 (GRCm39) noncoding transcript Het
Greb1 A G 12: 16,734,502 (GRCm39) V1496A probably benign Het
Hdac7 A G 15: 97,695,820 (GRCm39) probably null Het
Hectd4 A G 5: 121,474,712 (GRCm39) T2778A possibly damaging Het
Hivep2 A T 10: 14,019,406 (GRCm39) H2059L probably damaging Het
Ift88 A T 14: 57,715,531 (GRCm39) I525F probably benign Het
Irag1 A T 7: 110,470,640 (GRCm39) S898T possibly damaging Het
Itga5 G A 15: 103,262,697 (GRCm39) Q324* probably null Het
Klhl14 T G 18: 21,690,911 (GRCm39) H513P probably damaging Het
Lama5 A T 2: 179,838,363 (GRCm39) D837E probably damaging Het
Muc6 C A 7: 141,237,572 (GRCm39) C215F probably damaging Het
Myh15 A G 16: 48,952,461 (GRCm39) K844E probably damaging Het
Neb A G 2: 52,218,917 (GRCm39) V31A unknown Het
Nipbl A G 15: 8,340,693 (GRCm39) I2009T possibly damaging Het
Or2ag18 A G 7: 106,405,147 (GRCm39) I174T probably benign Het
Piwil2 T C 14: 70,635,667 (GRCm39) R536G probably benign Het
Pld3 A G 7: 27,232,044 (GRCm39) V412A probably damaging Het
Prkaa2 A C 4: 104,906,529 (GRCm39) probably null Het
Rdh9 T C 10: 127,626,814 (GRCm39) L289P probably damaging Het
Rusc2 C T 4: 43,416,434 (GRCm39) S580L probably damaging Het
Sidt2 A G 9: 45,858,280 (GRCm39) probably null Het
Slc18b1 A T 10: 23,679,748 (GRCm39) K92N probably benign Het
Slc20a2 G A 8: 23,025,573 (GRCm39) V92M possibly damaging Het
Slc4a11 A T 2: 130,527,464 (GRCm39) F644I probably damaging Het
Spata31d1d A T 13: 59,878,029 (GRCm39) probably benign Het
Spef2 T C 15: 9,663,244 (GRCm39) M846V probably benign Het
Syncrip T C 9: 88,362,800 (GRCm39) T3A probably benign Het
Other mutations in H2bc18
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0357:H2bc18 UTSW 3 96,177,104 (GRCm39) missense probably null 0.04
R0882:H2bc18 UTSW 3 96,177,060 (GRCm39) splice site probably null
R0976:H2bc18 UTSW 3 96,177,402 (GRCm39) missense probably benign 0.19
R1473:H2bc18 UTSW 3 96,177,388 (GRCm39) missense probably damaging 1.00
R1507:H2bc18 UTSW 3 96,177,189 (GRCm39) missense probably damaging 1.00
R4503:H2bc18 UTSW 3 96,177,240 (GRCm39) missense possibly damaging 0.84
R4751:H2bc18 UTSW 3 96,176,467 (GRCm39) unclassified probably benign
R4808:H2bc18 UTSW 3 96,177,329 (GRCm39) missense probably benign 0.00
R6118:H2bc18 UTSW 3 96,177,267 (GRCm39) missense probably damaging 1.00
R6585:H2bc18 UTSW 3 96,177,413 (GRCm39) missense probably benign 0.17
R7527:H2bc18 UTSW 3 96,177,186 (GRCm39) missense possibly damaging 0.94
R9093:H2bc18 UTSW 3 96,177,290 (GRCm39) missense probably benign 0.21
Posted On 2013-11-18