Incidental Mutation 'IGL03331:H2bc12'
ID 416889
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2bc12
Ensembl Gene ENSMUSG00000062727
Gene Name H2B clustered histone 12
Synonyms Hist1h2bk
Accession Numbers
Essential gene? Not available question?
Stock # IGL03331
Quality Score
Status
Chromosome 13
Chromosomal Location 22220040-22220515 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to C at 22220443 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091742] [ENSMUST00000102977] [ENSMUST00000110455]
AlphaFold Q8CGP1
Predicted Effect probably benign
Transcript: ENSMUST00000091742
SMART Domains Protein: ENSMUSP00000089336
Gene: ENSMUSG00000069302

DomainStartEndE-ValueType
H2A 3 123 8.07e-81 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102977
SMART Domains Protein: ENSMUSP00000100042
Gene: ENSMUSG00000060639

DomainStartEndE-ValueType
H4 16 90 2.59e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110455
SMART Domains Protein: ENSMUSP00000106085
Gene: ENSMUSG00000062727

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
H2B 28 124 4.64e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146121
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197533
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 C A 14: 78,751,305 (GRCm39) D361Y probably damaging Het
Arhgap10 T C 8: 78,146,711 (GRCm39) N231S probably damaging Het
Asb15 A T 6: 24,556,523 (GRCm39) D6V possibly damaging Het
C1qb G A 4: 136,607,604 (GRCm39) A253V probably damaging Het
Ccdc178 G T 18: 21,944,640 (GRCm39) probably null Het
Chst15 A G 7: 131,864,442 (GRCm39) L387P probably damaging Het
Clca3b T A 3: 144,533,724 (GRCm39) E550D probably benign Het
Dnah5 A G 15: 28,420,086 (GRCm39) K3795E probably damaging Het
Dppa2 T C 16: 48,134,242 (GRCm39) probably benign Het
Epb41l5 T C 1: 119,545,149 (GRCm39) Y220C probably damaging Het
Fkbpl C T 17: 34,864,661 (GRCm39) T143I probably damaging Het
Gbe1 T G 16: 70,230,466 (GRCm39) Y155D probably damaging Het
Gm1979 T C 5: 26,207,008 (GRCm39) K69R probably damaging Het
Gna14 G A 19: 16,586,832 (GRCm39) V336M probably damaging Het
Gpr37 A G 6: 25,669,728 (GRCm39) V372A probably benign Het
Herc2 C A 7: 55,785,015 (GRCm39) probably benign Het
Krt20 T C 11: 99,326,256 (GRCm39) probably null Het
Lman1 T C 18: 66,126,275 (GRCm39) T284A probably benign Het
Matn2 A T 15: 34,345,503 (GRCm39) D170V probably damaging Het
Morc1 C A 16: 48,432,731 (GRCm39) probably benign Het
Necap1 T A 6: 122,857,376 (GRCm39) S34T probably benign Het
Nt5c3b T C 11: 100,327,041 (GRCm39) Y85C probably damaging Het
Or2t6 C A 14: 14,176,017 (GRCm38) A22S probably benign Het
Or5b102 T A 19: 13,041,231 (GRCm39) L152H probably damaging Het
Papln A G 12: 83,830,435 (GRCm39) M1016V probably benign Het
Pld1 T C 3: 28,139,994 (GRCm39) F605L probably damaging Het
Rbms2 T A 10: 127,969,504 (GRCm39) probably benign Het
Rps6kb1 A T 11: 86,423,656 (GRCm39) V108E probably damaging Het
Scap T C 9: 110,209,304 (GRCm39) probably null Het
Serpina1f T C 12: 103,657,150 (GRCm39) I307M probably benign Het
Tchh A G 3: 93,350,725 (GRCm39) D55G probably damaging Het
Tnfaip3 G T 10: 18,887,349 (GRCm39) Q59K possibly damaging Het
Vcan A G 13: 89,810,051 (GRCm39) C2287R probably damaging Het
Vmn2r6 T C 3: 64,445,428 (GRCm39) N766D probably damaging Het
Other mutations in H2bc12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0924:H2bc12 UTSW 13 22,220,210 (GRCm39) missense probably damaging 0.98
R6631:H2bc12 UTSW 13 22,220,391 (GRCm39) missense probably damaging 0.96
R6797:H2bc12 UTSW 13 22,220,259 (GRCm39) missense probably benign 0.41
R7884:H2bc12 UTSW 13 22,220,225 (GRCm39) missense probably damaging 1.00
R8407:H2bc12 UTSW 13 22,220,217 (GRCm39) missense probably damaging 1.00
R9601:H2bc12 UTSW 13 22,220,393 (GRCm39) missense probably benign 0.42
Posted On 2016-08-02