Incidental Mutation 'R2300:H3f3a'
ID 245290
Institutional Source Beutler Lab
Gene Symbol H3f3a
Ensembl Gene ENSMUSG00000060743
Gene Name H3.3 histone A
Synonyms H3.3A, H3-3a
MMRRC Submission 040299-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.453) question?
Stock # R2300 (G1)
Quality Score 118
Status Not validated
Chromosome 1
Chromosomal Location 180630125-180641127 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 180630703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 117 (R117H)
Ref Sequence ENSEMBL: ENSMUSP00000125104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081026] [ENSMUST00000159789] [ENSMUST00000161308] [ENSMUST00000162814]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000081026
AA Change: R116H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000079816
Gene: ENSMUSG00000060743
AA Change: R116H

DomainStartEndE-ValueType
H3 34 135 2.77e-70 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159789
AA Change: R117H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125754
Gene: ENSMUSG00000060743
AA Change: R117H

DomainStartEndE-ValueType
H3 34 119 8.9e-51 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161308
AA Change: R117H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000124509
Gene: ENSMUSG00000060743
AA Change: R117H

DomainStartEndE-ValueType
H3 34 136 4.79e-74 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162814
AA Change: R117H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000125104
Gene: ENSMUSG00000060743
AA Change: R117H

DomainStartEndE-ValueType
H3 34 136 4.79e-74 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181811
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.5%
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 is a replication-independent member of the histone H3 family. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous mutants for a hypomorphic gene trap allele display partial neonatal lethality, reduced fertility, growth abnormalities and neuromuscular defects. Mice homozygous for a reporter allele exhibit reduced body size and male fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 G T 8: 84,656,746 (GRCm39) E355* probably null Het
Aldh6a1 G T 12: 84,486,303 (GRCm39) T205N probably damaging Het
Arhgap24 A G 5: 103,008,291 (GRCm39) I71V probably damaging Het
Arid2 A T 15: 96,299,887 (GRCm39) E1800V probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Cd53 T C 3: 106,670,572 (GRCm39) T154A probably benign Het
Chd7 G A 4: 8,855,241 (GRCm39) A2157T probably benign Het
Clca4b A T 3: 144,622,432 (GRCm39) N544K probably benign Het
Cntrl A G 2: 35,017,525 (GRCm39) E444G probably benign Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Gabrr1 A G 4: 33,152,449 (GRCm39) K130E probably benign Het
Jag1 T C 2: 136,938,235 (GRCm39) Y255C probably damaging Het
Kif11 A G 19: 37,399,987 (GRCm39) T825A probably benign Het
Lama4 T A 10: 38,963,316 (GRCm39) M1296K probably benign Het
Lrp1 G T 10: 127,392,784 (GRCm39) C2760* probably null Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Nolc1 CAG CAGAAG 19: 46,069,798 (GRCm39) probably benign Het
Nolc1 CAG CAGTAG 19: 46,069,807 (GRCm39) probably benign Het
Nop16 A G 13: 54,733,679 (GRCm39) probably null Het
Or2n1 T A 17: 38,486,441 (GRCm39) Y155* probably null Het
Or5ak22 T C 2: 85,230,476 (GRCm39) I134V probably benign Het
Ostf1 T C 19: 18,558,644 (GRCm39) D213G probably damaging Het
Slc28a2 C T 2: 122,272,259 (GRCm39) Q34* probably null Het
St18 A G 1: 6,925,626 (GRCm39) D928G probably damaging Het
Stag1 T C 9: 100,594,553 (GRCm39) V31A possibly damaging Het
Tcl1b1 G A 12: 105,130,783 (GRCm39) A89T probably benign Het
Tsen54 A T 11: 115,712,904 (GRCm39) S464C probably damaging Het
Ttn A G 2: 76,737,792 (GRCm39) F4249S probably benign Het
Xdh A G 17: 74,198,260 (GRCm39) F1209S probably damaging Het
Ylpm1 G A 12: 85,107,093 (GRCm39) probably null Het
Other mutations in H3f3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2297:H3f3a UTSW 1 180,630,703 (GRCm39) missense probably benign 0.00
R2298:H3f3a UTSW 1 180,630,703 (GRCm39) missense probably benign 0.00
R2299:H3f3a UTSW 1 180,630,703 (GRCm39) missense probably benign 0.00
R2351:H3f3a UTSW 1 180,637,723 (GRCm39) missense probably benign
R2895:H3f3a UTSW 1 180,630,703 (GRCm39) missense probably benign 0.00
R4052:H3f3a UTSW 1 180,630,703 (GRCm39) missense probably benign 0.00
R4208:H3f3a UTSW 1 180,630,703 (GRCm39) missense probably benign 0.00
R4455:H3f3a UTSW 1 180,630,668 (GRCm39) missense probably benign 0.00
R5582:H3f3a UTSW 1 180,637,650 (GRCm39) intron probably benign
R7870:H3f3a UTSW 1 180,639,490 (GRCm39) start codon destroyed probably null 0.61
R9128:H3f3a UTSW 1 180,630,660 (GRCm39) missense possibly damaging 0.95
R9678:H3f3a UTSW 1 180,637,680 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- ACGCCAATACCTGATTCTGTCC -3'
(R):5'- GCATCTTGACAGGTTTCTATGTGAG -3'

Sequencing Primer
(F):5'- TCCACTCGCAATCATATACTTAGG -3'
(R):5'- GAGCGTTTGATAAATTCTTTAAAGGG -3'
Posted On 2014-10-30