Incidental Mutation 'R2298:H3f3a'
ID 245215
Institutional Source Beutler Lab
Gene Symbol H3f3a
Ensembl Gene ENSMUSG00000060743
Gene Name H3.3 histone A
Synonyms H3.3A, H3-3a
MMRRC Submission 040297-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.453) question?
Stock # R2298 (G1)
Quality Score 136
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: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A G 8: 73,209,247 (GRCm39) D459G probably benign Het
Abhd12 C A 2: 150,743,414 (GRCm39) probably benign Het
Atcay A T 10: 81,046,397 (GRCm39) I309N probably damaging Het
Capn8 T C 1: 182,440,985 (GRCm39) V473A probably benign Het
Cramp1 T C 17: 25,216,454 (GRCm39) I220V probably damaging Het
Creb3l1 G A 2: 91,822,321 (GRCm39) P222S probably damaging Het
Crocc G A 4: 140,752,770 (GRCm39) A1374V probably benign Het
Crybg1 A G 10: 43,875,218 (GRCm39) L630S probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Erbb4 C T 1: 68,081,690 (GRCm39) D1115N probably damaging Het
Fasn T A 11: 120,704,642 (GRCm39) L1314F possibly damaging Het
Galm T A 17: 80,489,126 (GRCm39) C84* probably null Het
Klf13 T C 7: 63,541,504 (GRCm39) K208E probably damaging Het
Kremen1 AGGCGG AGGCGGCGG 11: 5,151,788 (GRCm39) probably benign Het
Lgmn A G 12: 102,361,937 (GRCm39) F388S probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Msh2 T A 17: 88,015,930 (GRCm39) Y521N probably damaging Het
Myo5b G T 18: 74,758,676 (GRCm39) R219L probably damaging Het
Myzap A T 9: 71,456,039 (GRCm39) M327K probably damaging Het
Ngfr AAGCAGCAGCAGCAGCAGCAGCAG AAGCAGCAGCAGCAGCAGCAG 11: 95,478,316 (GRCm39) probably benign Het
Phf8-ps T C 17: 33,285,752 (GRCm39) E350G probably damaging Het
Rps6ka5 A G 12: 100,517,713 (GRCm39) F796S probably damaging Het
Srl T C 16: 4,300,762 (GRCm39) I332V probably damaging Het
Stab2 T A 10: 86,790,338 (GRCm39) probably null Het
Tenm2 T C 11: 35,937,604 (GRCm39) T1690A possibly damaging Het
Traf4 T A 11: 78,051,677 (GRCm39) D241V probably benign Het
Trpv6 A G 6: 41,613,010 (GRCm39) I52T possibly damaging Het
Zfp768 T A 7: 126,943,361 (GRCm39) M256L probably benign Het
Other mutations in H3f3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2297: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
R2300: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'- ACTTAGGCATCTTGACAGGTTTC -3'

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