Incidental Mutation 'R2351:H3f3a'
ID 246095
Institutional Source Beutler Lab
Gene Symbol H3f3a
Ensembl Gene ENSMUSG00000060743
Gene Name H3.3 histone A
Synonyms H3.3A, H3-3a
MMRRC Submission 040333-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.453) question?
Stock # R2351 (G1)
Quality Score 210
Status Not validated
Chromosome 1
Chromosomal Location 180630125-180641127 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 180637723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 81 (T81A)
Ref Sequence ENSEMBL: ENSMUSP00000125104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081026] [ENSMUST00000159685] [ENSMUST00000159789] [ENSMUST00000161308] [ENSMUST00000162814] [ENSMUST00000162118]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000081026
AA Change: T81A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000079816
Gene: ENSMUSG00000060743
AA Change: T81A

DomainStartEndE-ValueType
H3 34 135 2.77e-70 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000097448
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159441
Predicted Effect probably benign
Transcript: ENSMUST00000159685
SMART Domains Protein: ENSMUSP00000124040
Gene: ENSMUSG00000060743

DomainStartEndE-ValueType
PDB:4HGA|B 1 52 7e-30 PDB
Blast:H3 8 52 9e-23 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159740
Predicted Effect probably benign
Transcript: ENSMUST00000159789
AA Change: T81A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125754
Gene: ENSMUSG00000060743
AA Change: T81A

DomainStartEndE-ValueType
H3 34 119 8.9e-51 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161308
AA Change: T81A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124509
Gene: ENSMUSG00000060743
AA Change: T81A

DomainStartEndE-ValueType
H3 34 136 4.79e-74 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162814
AA Change: T81A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125104
Gene: ENSMUSG00000060743
AA Change: T81A

DomainStartEndE-ValueType
H3 34 136 4.79e-74 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181811
Predicted Effect probably benign
Transcript: ENSMUST00000162118
SMART Domains Protein: ENSMUSP00000123946
Gene: ENSMUSG00000060743

DomainStartEndE-ValueType
PDB:4HGA|B 1 55 3e-32 PDB
Blast:H3 8 52 1e-22 BLAST
SCOP:d1hq3c_ 42 55 9e-5 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.2%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik A T 1: 138,779,846 (GRCm39) Y135* probably null Het
Aadacl4fm1 A T 4: 144,255,348 (GRCm39) Y256F probably damaging Het
Acad10 A T 5: 121,767,990 (GRCm39) I820K probably benign Het
Arl8b A T 6: 108,798,484 (GRCm39) I178F possibly damaging Het
Asap1 A T 15: 64,007,653 (GRCm39) probably null Het
Atp2b2 A T 6: 113,766,718 (GRCm39) I552N possibly damaging Het
C130074G19Rik G T 1: 184,615,060 (GRCm39) D43E probably benign Het
Ccdc162 C A 10: 41,431,968 (GRCm39) probably null Het
Ccdc186 T G 19: 56,787,129 (GRCm39) K613T possibly damaging Het
Cggbp1 T A 16: 64,676,046 (GRCm39) D37E possibly damaging Het
Cntn3 A T 6: 102,314,344 (GRCm39) N123K possibly damaging Het
Col18a1 C T 10: 76,948,538 (GRCm39) G325S probably benign Het
Cwc25 G T 11: 97,638,218 (GRCm39) T405K probably damaging Het
Cyp4a31 T C 4: 115,428,510 (GRCm39) V370A possibly damaging Het
Cyp4f13 T G 17: 33,144,570 (GRCm39) I309L probably benign Het
Dap3 A T 3: 88,840,870 (GRCm39) probably null Het
Dchs1 G T 7: 105,403,301 (GRCm39) D3080E probably benign Het
Ern2 A G 7: 121,770,731 (GRCm39) V762A probably damaging Het
Fgr C T 4: 132,724,548 (GRCm39) R255C probably damaging Het
Gcm2 A T 13: 41,257,094 (GRCm39) D218E probably benign Het
Gfi1 A G 5: 107,869,640 (GRCm39) S131P probably damaging Het
Grm8 A T 6: 28,126,118 (GRCm39) C3S possibly damaging Het
Gucy2d A G 7: 98,113,226 (GRCm39) D840G probably benign Het
Igsf23 C T 7: 19,678,723 (GRCm39) W22* probably null Het
Il12rb2 G A 6: 67,338,928 (GRCm39) Q3* probably null Het
Ino80d A T 1: 63,124,994 (GRCm39) L156H probably benign Het
Kdm2a G A 19: 4,379,154 (GRCm39) P554S probably benign Het
Lefty1 T A 1: 180,764,807 (GRCm39) L244H possibly damaging Het
Mdn1 T A 4: 32,750,010 (GRCm39) S4398T probably benign Het
Myh10 A G 11: 68,683,965 (GRCm39) D1126G probably damaging Het
Myo16 G A 8: 10,644,905 (GRCm39) D1746N possibly damaging Het
Myom1 A T 17: 71,341,574 (GRCm39) D111V probably damaging Het
Naip6 T A 13: 100,420,169 (GRCm39) D1367V probably damaging Het
Nbeal1 A T 1: 60,276,257 (GRCm39) H666L possibly damaging Het
Nsmaf T A 4: 6,437,921 (GRCm39) I77F probably damaging Het
Nvl T C 1: 180,958,357 (GRCm39) T231A probably benign Het
Obscn T C 11: 59,003,438 (GRCm39) R1287G probably damaging Het
Opn3 T C 1: 175,520,077 (GRCm39) D9G probably benign Het
Or4a81 T C 2: 89,619,522 (GRCm39) Y58C probably damaging Het
Or4c114 C T 2: 88,904,743 (GRCm39) G231S possibly damaging Het
Or6a2 A T 7: 106,600,883 (GRCm39) Y61* probably null Het
Or6c8b A G 10: 128,882,797 (GRCm39) V45A probably benign Het
Or6k2 T A 1: 173,986,486 (GRCm39) V49D probably damaging Het
Or8k24 C T 2: 86,216,471 (GRCm39) C97Y probably damaging Het
Parp10 A T 15: 76,127,056 (GRCm39) S101R probably benign Het
Pdhx T A 2: 102,854,562 (GRCm39) K399* probably null Het
Pdia4 A T 6: 47,773,848 (GRCm39) probably null Het
Pla2g4f T C 2: 120,130,923 (GRCm39) D844G probably benign Het
Prtg C A 9: 72,764,106 (GRCm39) D526E probably damaging Het
Rassf6 T C 5: 90,779,418 (GRCm39) D5G probably benign Het
Riok3 C T 18: 12,282,724 (GRCm39) Q388* probably null Het
Robo4 T A 9: 37,322,956 (GRCm39) F825L probably benign Het
Rpl13a-ps1 C T 19: 50,018,868 (GRCm39) E103K probably benign Het
Rpl18a A T 8: 71,348,864 (GRCm39) H37Q probably benign Het
Ryr1 A T 7: 28,774,718 (GRCm39) S2301T probably benign Het
Slc39a9 T A 12: 80,691,660 (GRCm39) D2E possibly damaging Het
Slco5a1 C T 1: 13,060,158 (GRCm39) V188I probably benign Het
Son T A 16: 91,454,547 (GRCm39) M1098K probably damaging Het
Spag9 A G 11: 93,983,726 (GRCm39) D701G probably damaging Het
Ssmem1 T C 6: 30,512,495 (GRCm39) F46S possibly damaging Het
Sspo C T 6: 48,441,803 (GRCm39) R1938W probably damaging Het
Sstr3 T C 15: 78,424,121 (GRCm39) I209V probably benign Het
Tlk2 A G 11: 105,100,656 (GRCm39) Y87C probably damaging Het
Traf4 G A 11: 78,051,002 (GRCm39) R385W probably damaging Het
Triobp G A 15: 78,888,780 (GRCm39) V1962M probably benign Het
Tspan12 T G 6: 21,835,506 (GRCm39) I56L probably benign Het
Upp2 T A 2: 58,653,674 (GRCm39) probably null Het
Vps13b T C 15: 35,869,457 (GRCm39) W2654R probably damaging Het
Zc3h18 C T 8: 123,129,926 (GRCm39) R435* probably null Het
Zfta T C 19: 7,399,609 (GRCm39) I247T 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
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'- GCATTAGGCTTTTGAACCAATTAGG -3'
(R):5'- CTTAACAGGGTTGAATATTCAGGTC -3'

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