Incidental Mutation 'R9128:H3f3a'
ID 693378
Institutional Source Beutler Lab
Gene Symbol H3f3a
Ensembl Gene ENSMUSG00000060743
Gene Name H3.3 histone A
Synonyms H3.3A, H3-3a
MMRRC Submission 068927-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.453) question?
Stock # R9128 (G1)
Quality Score 80.0075
Status Not validated
Chromosome 1
Chromosomal Location 180630125-180641127 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 180630660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 131 (I131M)
Ref Sequence ENSEMBL: ENSMUSP00000124509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081026] [ENSMUST00000159789] [ENSMUST00000161308] [ENSMUST00000162814]
AlphaFold no structure available at present
Predicted Effect
SMART Domains Protein: ENSMUSP00000079816
Gene: ENSMUSG00000060743
AA Change: I130M

DomainStartEndE-ValueType
H3 34 135 2.77e-70 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159789
SMART Domains Protein: ENSMUSP00000125754
Gene: ENSMUSG00000060743

DomainStartEndE-ValueType
H3 34 119 8.9e-51 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000161308
AA Change: I131M

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124509
Gene: ENSMUSG00000060743
AA Change: I131M

DomainStartEndE-ValueType
H3 34 136 4.79e-74 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000162814
AA Change: I131M

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125104
Gene: ENSMUSG00000060743
AA Change: I131M

DomainStartEndE-ValueType
H3 34 136 4.79e-74 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,838,352 (GRCm39) V542A possibly damaging Het
Abhd8 G T 8: 71,914,389 (GRCm39) R80S probably benign Het
Actc1 T C 2: 113,880,946 (GRCm39) Y93C possibly damaging Het
Actn4 G T 7: 28,593,929 (GRCm39) D859E possibly damaging Het
Adcy2 C T 13: 68,773,927 (GRCm39) G1039R probably damaging Het
Als2 A G 1: 59,219,709 (GRCm39) M1202T probably benign Het
Aste1 T A 9: 105,273,908 (GRCm39) Y49* probably null Het
Atp8b4 T C 2: 126,234,750 (GRCm39) D422G probably benign Het
Bag6 T A 17: 35,363,688 (GRCm39) S791T probably damaging Het
Bivm T A 1: 44,167,949 (GRCm39) W222R probably null Het
Bod1l A C 5: 41,946,266 (GRCm39) V3003G probably benign Het
Bsn T C 9: 107,993,349 (GRCm39) D801G probably benign Het
Ccdc14 G A 16: 34,527,159 (GRCm39) D403N probably damaging Het
Cenpj T A 14: 56,780,319 (GRCm39) E964V probably damaging Het
Cep250 C T 2: 155,812,042 (GRCm39) A446V unknown Het
Clca3a1 G A 3: 144,463,795 (GRCm39) R161W probably damaging Het
Dcxr A T 11: 120,617,372 (GRCm39) V57E Het
Dnah17 T G 11: 117,937,004 (GRCm39) N3400T possibly damaging Het
Dnaja3 C T 16: 4,520,164 (GRCm39) T444I possibly damaging Het
Dop1a T C 9: 86,395,208 (GRCm39) S772P probably benign Het
Ednrb T C 14: 104,080,528 (GRCm39) N129D probably damaging Het
Ep300 T A 15: 81,533,946 (GRCm39) M2001K unknown Het
Fam3b A G 16: 97,302,200 (GRCm39) I8T probably benign Het
Fam98c A T 7: 28,854,115 (GRCm39) S85T Het
Fat1 G A 8: 45,462,878 (GRCm39) V1232I probably benign Het
Fzd3 T A 14: 65,449,626 (GRCm39) Y484F probably damaging Het
Ifi206 A T 1: 173,299,022 (GRCm39) D861E unknown Het
Ihh T C 1: 74,985,498 (GRCm39) Y329C probably damaging Het
Jak2 A G 19: 29,278,462 (GRCm39) N909D probably damaging Het
Krtap12-1 C A 10: 77,556,623 (GRCm39) C55* probably null Het
Mical2 A C 7: 111,870,589 (GRCm39) K26T possibly damaging Het
Mreg T C 1: 72,231,216 (GRCm39) T81A probably benign Het
Muc16 T C 9: 18,558,878 (GRCm39) T2472A unknown Het
Nanos3 A T 8: 84,903,080 (GRCm39) D27E probably benign Het
Nox3 T G 17: 3,720,136 (GRCm39) S350R probably damaging Het
Or4m1 A G 14: 50,558,214 (GRCm39) V26A probably benign Het
Or8k18 T A 2: 86,086,022 (GRCm39) N5I probably damaging Het
Pafah2 C T 4: 134,147,281 (GRCm39) T310M probably damaging Het
Pals1 A G 12: 78,843,832 (GRCm39) E12G probably benign Het
Pianp A G 6: 124,977,658 (GRCm39) I185V probably benign Het
Pja2 T C 17: 64,616,470 (GRCm39) T142A probably benign Het
Poln G A 5: 34,171,658 (GRCm39) P747L probably damaging Het
Pramel25 T A 4: 143,520,178 (GRCm39) S141T probably benign Het
Rdx T A 9: 51,976,179 (GRCm39) L39* probably null Het
Rnf146 A G 10: 29,223,539 (GRCm39) W116R probably damaging Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Sec24d A G 3: 123,087,810 (GRCm39) T224A probably benign Het
Serpinb9 T A 13: 33,190,686 (GRCm39) I54K possibly damaging Het
Slc25a13 A T 6: 6,109,987 (GRCm39) L324Q probably null Het
Slc9c1 T C 16: 45,400,490 (GRCm39) L700P probably benign Het
Snta1 T C 2: 154,222,856 (GRCm39) K289R probably benign Het
Sppl2a A G 2: 126,765,393 (GRCm39) F243S probably damaging Het
Syne1 T C 10: 5,058,556 (GRCm39) E7319G probably benign Het
Taf5l G A 8: 124,730,014 (GRCm39) P225L probably benign Het
Tet2 A T 3: 133,175,374 (GRCm39) N1324K possibly damaging Het
Usp5 A T 6: 124,800,414 (GRCm39) probably null Het
Vmn2r124 G T 17: 18,294,439 (GRCm39) R842L probably benign Het
Vps16 A G 2: 130,266,319 (GRCm39) D2G possibly damaging Het
Vwf T C 6: 125,619,693 (GRCm39) L1457P Het
Xpo1 A G 11: 23,235,058 (GRCm39) T576A probably damaging Het
Zdhhc6 A T 19: 55,301,680 (GRCm39) Y100* probably null Het
Zfp534 T A 4: 147,760,082 (GRCm39) R196* probably null Het
Zfp710 C T 7: 79,731,122 (GRCm39) R100W probably damaging Het
Zfp750 T C 11: 121,404,674 (GRCm39) K67R probably benign Het
Zmynd10 T C 9: 107,426,326 (GRCm39) S158P Het
Zmynd8 A T 2: 165,700,058 (GRCm39) M1K probably null 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
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
R9678:H3f3a UTSW 1 180,637,680 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AACGCCAATACCTGATTCTGTC -3'
(R):5'- GCATCTTGACAGGTTTCTATGTGAG -3'

Sequencing Primer
(F):5'- AATACCTGATTCTGTCCCCTATG -3'
(R):5'- GAGCGTTTGATAAATTCTTTAAAGGG -3'
Posted On 2022-01-20