Incidental Mutation 'R2297:H3f3a'
ID 245193
Institutional Source Beutler Lab
Gene Symbol H3f3a
Ensembl Gene ENSMUSG00000060743
Gene Name H3.3 histone A
Synonyms H3.3A, H3-3a
MMRRC Submission 040296-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.453) question?
Stock # R2297 (G1)
Quality Score 160
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: 97.4%
  • 20x: 95.4%
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik G A 11: 3,840,127 (GRCm39) A90V probably damaging Het
Aco2 A T 15: 81,788,109 (GRCm39) D114V probably damaging Het
Cop1 C T 1: 159,080,124 (GRCm39) H185Y possibly damaging Het
Cyp2a12 A G 7: 26,734,057 (GRCm39) D330G possibly damaging Het
Dcaf6 T C 1: 165,227,431 (GRCm39) Y232C probably damaging Het
Ddx42 T G 11: 106,133,765 (GRCm39) D580E probably damaging Het
Dtl A G 1: 191,273,207 (GRCm39) V567A probably benign Het
Fem1c T C 18: 46,639,228 (GRCm39) K258R possibly damaging Het
Galnt12 T A 4: 47,113,834 (GRCm39) V84D probably damaging Het
Grm1 T G 10: 10,956,158 (GRCm39) D42A probably benign Het
Ncapd3 C T 9: 26,952,797 (GRCm39) R109* probably null Het
Or5c1 A G 2: 37,222,155 (GRCm39) N132S probably benign Het
Pimreg T C 11: 71,933,906 (GRCm39) S11P probably damaging Het
Ppp1r16b G A 2: 158,603,286 (GRCm39) E404K possibly damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Slc6a11 A G 6: 114,108,386 (GRCm39) N50S probably benign Het
Stab2 T A 10: 86,790,338 (GRCm39) probably null Het
Tmem132d T C 5: 128,345,608 (GRCm39) T305A possibly damaging Het
Tnfrsf13b A G 11: 61,038,271 (GRCm39) T185A probably benign Het
Trdn C A 10: 33,211,008 (GRCm39) P400Q probably damaging Het
Zfp119b T A 17: 56,246,355 (GRCm39) Y277F possibly damaging Het
Other mutations in H3f3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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'- GCATCTTGACAGGTTTCTATGTGAG -3'

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