Incidental Mutation 'IGL00912:H3f3b'
ID 28504
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H3f3b
Ensembl Gene ENSMUSG00000016559
Gene Name H3 histone, family 3B
Synonyms H3.3B, 9430068D06Rik
Accession Numbers
Is this an essential gene? Not available question?
Stock # IGL00912
Quality Score
Status
Chromosome 11
Chromosomal Location 116021912-116027962 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 116023444 bp (GRCm38)
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: 128,552,307 M957I probably benign Het
Cep83 C T 10: 94,737,866 R206* probably null Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Jag1 G A 2: 137,115,573 T73M probably damaging Het
Mrps35 T A 6: 147,055,921 I148N possibly damaging Het
Nostrin G A 2: 69,182,819 probably benign Het
Rer1 A G 4: 155,082,665 probably null Het
Scaper A G 9: 55,685,955 L466S probably damaging Het
Tmem87a T C 2: 120,403,936 D42G possibly damaging Het
Ttn G T 2: 76,738,832 T27239K probably damaging Het
Ugt3a1 G A 15: 9,310,612 V327M probably damaging Het
Vmn2r100 A G 17: 19,531,392 T566A possibly damaging Het
Other mutations in H3f3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
Z1177:H3f3b UTSW 11 116023907 missense probably benign 0.02
Posted On 2013-04-17