Incidental Mutation 'R4052:H3f3a'
ID 314182
Institutional Source Beutler Lab
Gene Symbol H3f3a
Ensembl Gene ENSMUSG00000060743
Gene Name H3.3 histone A
Synonyms H3.3A, H3-3a
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.453) question?
Stock # R4052 ()
Quality Score 104
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: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.5%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik T G 13: 119,624,738 (GRCm39) probably benign Het
Abca8b G A 11: 109,872,551 (GRCm39) Q17* probably null Het
Abcc6 A C 7: 45,635,987 (GRCm39) L1020R probably damaging Het
Ace2 A G X: 162,952,581 (GRCm39) I110V probably benign Het
Adam29 T C 8: 56,325,317 (GRCm39) Y379C probably damaging Het
Apol10a A T 15: 77,373,185 (GRCm39) I274L probably benign Het
BC005537 T A 13: 24,993,881 (GRCm39) F119I possibly damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Cts3 T A 13: 61,716,535 (GRCm39) I34L probably benign Het
Cyp4a30b A G 4: 115,311,539 (GRCm39) D69G probably benign Het
Dclk2 A G 3: 86,738,129 (GRCm39) probably null Het
Dhx30 A G 9: 109,929,889 (GRCm39) V69A possibly damaging Het
Dis3 T G 14: 99,332,752 (GRCm39) I227L probably benign Het
Dock3 A G 9: 106,850,995 (GRCm39) S836P probably damaging Het
Efhc2 T C X: 17,096,789 (GRCm39) N186S possibly damaging Het
Erap1 A G 13: 74,823,459 (GRCm39) N831S probably benign Het
Gimap3 T A 6: 48,743,447 (GRCm39) T3S possibly damaging Het
Gpr82 C T X: 13,531,898 (GRCm39) P149S probably damaging Het
Hcn2 A C 10: 79,569,521 (GRCm39) probably null Het
Helz2 A G 2: 180,882,268 (GRCm39) L175P probably damaging Het
Il36b T C 2: 24,049,844 (GRCm39) F152L probably damaging Het
Ino80b G C 6: 83,099,314 (GRCm39) P178R probably damaging Het
Ldlrad3 C T 2: 101,783,507 (GRCm39) D240N probably damaging Het
Lef1 A G 3: 130,988,338 (GRCm39) N236D probably damaging Het
Macf1 A G 4: 123,365,810 (GRCm39) S1419P probably benign Het
Me2 T C 18: 73,924,156 (GRCm39) K352R probably benign Het
Ncapd3 T A 9: 27,000,679 (GRCm39) probably null Het
Or52n3 A G 7: 104,530,810 (GRCm39) T299A probably damaging Het
P2rx7 T C 5: 122,804,340 (GRCm39) F293S probably damaging Het
Pabpc1l T C 2: 163,885,533 (GRCm39) W429R probably benign Het
Parp14 T C 16: 35,678,771 (GRCm39) E399G probably benign Het
Pde6h A G 6: 136,936,266 (GRCm39) D3G unknown Het
Pfkfb1 A T X: 149,405,184 (GRCm39) D208V possibly damaging Het
Rasgrp3 T C 17: 75,803,963 (GRCm39) F89L probably damaging Het
Rif1 A T 2: 51,988,483 (GRCm39) K741* probably null Het
Rnase4 A G 14: 51,342,462 (GRCm39) K62R probably benign Het
Rnf207 C A 4: 152,395,894 (GRCm39) Q533H probably benign Het
Slc24a2 A G 4: 87,145,442 (GRCm39) V204A probably damaging Het
Spry2 A T 14: 106,130,635 (GRCm39) C184S probably damaging Het
Sulf2 T C 2: 165,936,510 (GRCm39) Y152C probably damaging Het
Thrap3 G A 4: 126,070,012 (GRCm39) A625V probably damaging Het
Tmem39a T A 16: 38,406,650 (GRCm39) V329D probably damaging Het
Trav7-3 A G 14: 53,681,203 (GRCm39) T82A probably benign Het
Trim30b T A 7: 104,006,685 (GRCm39) Q57L possibly damaging Het
Uggt1 A G 1: 36,203,570 (GRCm39) V1020A probably damaging Het
Zfp941 T G 7: 140,392,340 (GRCm39) K340Q possibly damaging 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
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
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 2015-04-30