Incidental Mutation 'IGL00912:H3f3b'
ID 28504
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H3f3b
Ensembl Gene ENSMUSG00000016559
Gene Name H3.3 histone B
Synonyms 9430068D06Rik, H3-3b, H3.3B
Accession Numbers
Essential gene? Not available question?
Stock # IGL00912
Quality Score
Status
Chromosome 11
Chromosomal Location 115912738-115918788 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 115914270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 125 (I125N)
Ref Sequence ENSEMBL: ENSMUSP00000102062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016703] [ENSMUST00000106454]
AlphaFold P84244
Predicted Effect probably damaging
Transcript: ENSMUST00000016703
AA Change: I125N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000016703
Gene: ENSMUSG00000016559
AA Change: I125N

DomainStartEndE-ValueType
H3 34 136 4.79e-74 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106454
AA Change: I125N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102062
Gene: ENSMUSG00000016559
AA Change: I125N

DomainStartEndE-ValueType
H3 34 136 4.79e-74 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139378
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139623
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 contains introns and its mRNA is polyadenylated, unlike most histone genes. The protein encoded by this gene is a replication-independent histone that is a member of the histone H3 family. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice heterozygous for a reporter allele exhibit reduced body size and male infertility due to failure of spermiogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,529,270 (GRCm39) M957I probably benign Het
Cep83 C T 10: 94,573,728 (GRCm39) R206* probably null Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Jag1 G A 2: 136,957,493 (GRCm39) T73M probably damaging Het
Mrps35 T A 6: 146,957,419 (GRCm39) I148N possibly damaging Het
Nostrin G A 2: 69,013,163 (GRCm39) probably benign Het
Rer1 A G 4: 155,167,122 (GRCm39) probably null Het
Scaper A G 9: 55,593,239 (GRCm39) L466S probably damaging Het
Tmem87a T C 2: 120,234,417 (GRCm39) D42G possibly damaging Het
Ttn G T 2: 76,569,176 (GRCm39) T27239K probably damaging Het
Ugt3a1 G A 15: 9,310,698 (GRCm39) V327M probably damaging Het
Vmn2r100 A G 17: 19,751,654 (GRCm39) T566A possibly damaging Het
Other mutations in H3f3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
Z1177:H3f3b UTSW 11 115,914,733 (GRCm39) missense probably benign 0.02
Posted On 2013-04-17