Incidental Mutation 'R4208:H3f3a'
ID 319006
Institutional Source Beutler Lab
Gene Symbol H3f3a
Ensembl Gene ENSMUSG00000060743
Gene Name H3.3 histone A
Synonyms H3.3A, H3-3a
MMRRC Submission 041037-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.453) question?
Stock # R4208 (G1)
Quality Score 196
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: 98.5%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency 100% (57/57)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T C 19: 31,910,060 (GRCm39) L284P 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
Adamts12 A G 15: 11,071,840 (GRCm39) H128R probably benign Het
Aoc1l2 A T 6: 48,908,581 (GRCm39) D527V probably damaging Het
Apol9a G C 15: 77,288,596 (GRCm39) T257S probably benign Het
B4galnt3 A G 6: 120,192,063 (GRCm39) S557P probably damaging Het
C3 C T 17: 57,512,303 (GRCm39) D1542N possibly damaging Het
Casp12 T C 9: 5,346,629 (GRCm39) L52P probably damaging Het
Cep126 C T 9: 8,100,822 (GRCm39) E571K probably damaging Het
Cfhr1 A G 1: 139,475,616 (GRCm39) probably benign Het
Cmah A G 13: 24,601,410 (GRCm39) probably null Het
Col10a1 C T 10: 34,271,539 (GRCm39) P504S probably damaging Het
Ctnna3 T A 10: 64,795,557 (GRCm39) D758E probably benign Het
Cyp2c65 T C 19: 39,079,099 (GRCm39) S393P probably damaging Het
Dclk2 A G 3: 86,738,129 (GRCm39) probably null Het
Dis3 T G 14: 99,332,752 (GRCm39) I227L probably benign Het
Efhc2 T C X: 17,096,789 (GRCm39) N186S possibly damaging Het
F13b G T 1: 139,444,079 (GRCm39) W471L probably damaging Het
Fam181a A G 12: 103,282,173 (GRCm39) D26G probably damaging Het
Gabpb2 A G 3: 95,111,245 (GRCm39) probably benign Het
Gm7293 A G 9: 51,534,879 (GRCm39) noncoding transcript Het
Ino80b G C 6: 83,099,314 (GRCm39) P178R probably damaging Het
Kif3b G A 2: 153,165,477 (GRCm39) R628Q probably damaging Het
Lars1 T C 18: 42,362,768 (GRCm39) E557G probably benign Het
Ldlrad3 C T 2: 101,783,507 (GRCm39) D240N probably damaging Het
Lingo2 T C 4: 35,709,810 (GRCm39) I57V probably benign Het
Lsr A G 7: 30,672,519 (GRCm39) I27T probably benign Het
Me2 T C 18: 73,924,156 (GRCm39) K352R probably benign Het
Met T C 6: 17,548,728 (GRCm39) V924A possibly damaging Het
Mpp3 T C 11: 101,891,426 (GRCm39) T571A probably benign Het
Or4c1 A T 2: 89,133,270 (GRCm39) I222N probably damaging Het
Or52n3 A G 7: 104,530,810 (GRCm39) T299A probably damaging Het
Padi1 C A 4: 140,544,538 (GRCm39) V552L possibly damaging Het
Pfkfb1 A T X: 149,405,184 (GRCm39) D208V possibly damaging Het
Rnase4 A G 14: 51,342,462 (GRCm39) K62R probably benign Het
RP24-126A19.1 C A 5: 146,832,606 (GRCm39) R123L noncoding transcript Het
Scn10a T A 9: 119,445,842 (GRCm39) E1438V probably damaging Het
Sfmbt2 T A 2: 10,547,793 (GRCm39) D458E probably damaging Het
Slitrk3 T A 3: 72,958,490 (GRCm39) Y94F possibly damaging Het
Sstr2 A C 11: 113,515,482 (GRCm39) T134P probably damaging Het
Steap4 A G 5: 8,030,404 (GRCm39) Y420C probably damaging Het
Tamm41 AGGG AGG 6: 114,989,320 (GRCm39) probably benign Het
Trav7-3 A G 14: 53,681,203 (GRCm39) T82A probably benign Het
Trbv23 A T 6: 41,193,022 (GRCm39) I6F probably benign Het
Vmn1r87 A G 7: 12,866,185 (GRCm39) V34A probably benign Het
Zc3h7a C T 16: 10,982,508 (GRCm39) E6K possibly damaging Het
Zfp606 G A 7: 12,228,102 (GRCm39) C683Y probably 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
R4052: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'- GTGGAGAAACGCCAATACCTG -3'
(R):5'- CTTGACAGGTTTCTATGTGAGC -3'

Sequencing Primer
(F):5'- GGAGAAACGCCAATACCTGATTCTG -3'
(R):5'- GAGCGTTTGATAAATTCTTTAAAGGG -3'
Posted On 2015-06-10