Incidental Mutation 'R7800:H1f3'
ID 600494
Institutional Source Beutler Lab
Gene Symbol H1f3
Ensembl Gene ENSMUSG00000052565
Gene Name H1.3 linker histone, cluster member
Synonyms H1D, H1.3, H1f3, Hist1h1d, H1s-4
MMRRC Submission 045855-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7800 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 23739206-23739981 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 23739541 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 93 (T93N)
Ref Sequence ENSEMBL: ENSMUSP00000044395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045301] [ENSMUST00000102971]
AlphaFold P43277
Predicted Effect possibly damaging
Transcript: ENSMUST00000045301
AA Change: T93N

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000044395
Gene: ENSMUSG00000052565
AA Change: T93N

DomainStartEndE-ValueType
H15 35 100 4.02e-23 SMART
low complexity region 110 221 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102971
SMART Domains Protein: ENSMUSP00000100036
Gene: ENSMUSG00000069274

DomainStartEndE-ValueType
H4 16 90 2.59e-29 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 96% (47/49)
MGI Phenotype FUNCTION: Histones are basic nuclear proteins responsible for 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 is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for targeted null mutations are phenotypically normal. However, Hist1h1c/Hist1h1e/Hist1h1d triple knockout mice die by embryonic day 12.5, and heterozygotes are underrepresented. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,078,698 (GRCm39) D1264G probably benign Het
Ace T C 11: 105,876,884 (GRCm39) F1122S probably damaging Het
Actr10 T G 12: 70,990,283 (GRCm39) Y112D probably benign Het
Cacnb1 T G 11: 97,900,121 (GRCm39) I346L possibly damaging Het
Camsap2 T C 1: 136,209,639 (GRCm39) T607A probably damaging Het
Cby3 T C 11: 50,250,175 (GRCm39) F32S probably damaging Het
Cers5 G T 15: 99,634,122 (GRCm39) H409N probably benign Het
Ces1h A T 8: 94,106,322 (GRCm39) L11H Het
Clcnkb T C 4: 141,141,833 (GRCm39) Y51C probably benign Het
Cnnm2 A G 19: 46,866,420 (GRCm39) E856G probably benign Het
Cnot1 A G 8: 96,491,690 (GRCm39) V378A probably benign Het
Crisp4 A C 1: 18,198,973 (GRCm39) S154A probably benign Het
Disp1 C T 1: 182,880,550 (GRCm39) R241Q probably benign Het
Ermard G A 17: 15,277,065 (GRCm39) R429H probably benign Het
Extl1 C T 4: 134,098,929 (GRCm39) G34D probably benign Het
Gen1 T C 12: 11,291,863 (GRCm39) D707G probably benign Het
Igkv5-37 A C 6: 69,940,499 (GRCm39) S48R possibly damaging Het
Ilvbl C T 10: 78,419,809 (GRCm39) A571V possibly damaging Het
Itgb1 A G 8: 129,439,718 (GRCm39) K136E possibly damaging Het
Lhx8 A G 3: 154,027,284 (GRCm39) F253L probably damaging Het
Naa25 A G 5: 121,562,594 (GRCm39) T459A possibly damaging Het
Nr3c2 A G 8: 77,636,621 (GRCm39) Y574C probably damaging Het
Nrxn1 C T 17: 91,396,635 (GRCm39) probably benign Het
Ntrk3 T A 7: 77,952,488 (GRCm39) R576S probably benign Het
Nup210l A G 3: 90,041,904 (GRCm39) Y403C probably damaging Het
Or2ag12 A G 7: 106,276,781 (GRCm39) V304A probably benign Het
Or8b53 T G 9: 38,667,914 (GRCm39) L310W probably damaging Het
Otogl T A 10: 107,722,376 (GRCm39) Y326F probably damaging Het
Pcdha1 T A 18: 37,064,426 (GRCm39) D363E probably damaging Het
Pcdhb3 T A 18: 37,434,974 (GRCm39) N313K probably benign Het
Pcdhb9 A C 18: 37,534,602 (GRCm39) S199R probably benign Het
Pde4dip C T 3: 97,622,599 (GRCm39) D1537N probably damaging Het
Pinx1 A G 14: 64,156,984 (GRCm39) K304E probably benign Het
Pnlip T C 19: 58,670,134 (GRCm39) V458A probably benign Het
Polr3a C A 14: 24,534,455 (GRCm39) M60I probably null Het
Qrich2 G T 11: 116,347,686 (GRCm39) S1046* probably null Het
Rigi T C 4: 40,211,618 (GRCm39) E650G probably benign Het
Rps6ka5 G A 12: 100,524,824 (GRCm39) P638S probably damaging Het
Slc6a13 T A 6: 121,298,658 (GRCm39) N158K probably damaging Het
Sord T C 2: 122,089,561 (GRCm39) V187A probably damaging Het
Sult2a2 A G 7: 13,468,710 (GRCm39) T59A probably benign Het
Thbs2 T C 17: 14,896,558 (GRCm39) D777G probably damaging Het
Tmed9 A G 13: 55,743,345 (GRCm39) D159G probably benign Het
Trbc1 A G 6: 41,516,195 (GRCm39) I142V Het
Usp17ld A G 7: 102,900,041 (GRCm39) V297A probably damaging Het
Vmn1r167 A T 7: 23,204,069 (GRCm39) *316R probably null Het
Wdr59 C A 8: 112,248,570 (GRCm39) R15L Het
Zfp189 C T 4: 49,529,367 (GRCm39) P157S possibly damaging Het
Zfp407 C T 18: 84,578,800 (GRCm39) G771D probably damaging Het
Other mutations in H1f3
AlleleSourceChrCoordTypePredicted EffectPPH Score
Tease UTSW 13 23,739,451 (GRCm39) splice site probably null
R0485:H1f3 UTSW 13 23,739,924 (GRCm39) nonsense probably null
R1954:H1f3 UTSW 13 23,739,690 (GRCm39) unclassified probably benign
R4773:H1f3 UTSW 13 23,739,576 (GRCm39) missense probably damaging 1.00
R6599:H1f3 UTSW 13 23,739,451 (GRCm39) splice site probably null
R7818:H1f3 UTSW 13 23,739,165 (GRCm39) unclassified probably benign
R7902:H1f3 UTSW 13 23,739,505 (GRCm39) missense probably damaging 0.96
X0065:H1f3 UTSW 13 23,739,321 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TGCACCTGTGGAGAAGACAC -3'
(R):5'- TTGGAAACTTTCTTGGCGCC -3'

Sequencing Primer
(F):5'- CACCTGTGGAGAAGACACCTGTG -3'
(R):5'- CGGAGTCTTCTTGGCCGTC -3'
Posted On 2019-11-26