Incidental Mutation 'R6599:H1f3'
ID 525143
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 044723-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6599 (G1)
Quality Score 199.009
Status Validated
Chromosome 13
Chromosomal Location 23739206-23739981 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 23739451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000100036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045301] [ENSMUST00000102971]
AlphaFold P43277
Predicted Effect probably damaging
Transcript: ENSMUST00000045301
AA Change: L63P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044395
Gene: ENSMUSG00000052565
AA Change: L63P

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

DomainStartEndE-ValueType
H4 16 90 2.59e-29 SMART
Meta Mutation Damage Score 0.9358 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 95.9%
Validation Efficiency 94% (32/34)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T C 3: 137,882,250 (GRCm39) H150R probably benign Het
Acbd5 C T 2: 22,959,092 (GRCm39) probably benign Het
Adcyap1r1 G A 6: 55,456,979 (GRCm39) V237M probably damaging Het
Akr1c6 T G 13: 4,499,318 (GRCm39) probably null Het
Ccdc7b T A 8: 129,893,462 (GRCm39) F96L probably benign Het
Cubn T C 2: 13,315,484 (GRCm39) H2983R possibly damaging Het
Dhx40 T A 11: 86,695,175 (GRCm39) I112L possibly damaging Het
Dnmbp A T 19: 43,845,025 (GRCm39) D1070E probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Ep300 G C 15: 81,470,914 (GRCm39) D29H unknown Het
Exoc3 T C 13: 74,337,277 (GRCm39) probably null Het
Fcsk A T 8: 111,619,915 (GRCm39) probably null Het
Gm6401 C A 14: 41,788,821 (GRCm39) E83* probably null Het
Gm8267 G T 14: 44,955,367 (GRCm39) T218K possibly damaging Het
Hif3a T A 7: 16,776,530 (GRCm39) D470V possibly damaging Het
Igf2r T C 17: 12,917,505 (GRCm39) S1526G possibly damaging Het
Lrp2 T C 2: 69,299,749 (GRCm39) D3101G probably damaging Het
Megf6 A G 4: 154,342,544 (GRCm39) probably null Het
Mthfs G A 9: 89,121,961 (GRCm39) G149D probably damaging Het
Nnmt T C 9: 48,514,669 (GRCm39) D116G probably benign Het
Nqo2 T C 13: 34,163,539 (GRCm39) F22S probably damaging Het
Or1e29 T A 11: 73,667,506 (GRCm39) M216L probably benign Het
Or7e175 T C 9: 20,049,239 (GRCm39) S276P probably damaging Het
Parm1 T C 5: 91,741,718 (GRCm39) S29P possibly damaging Het
Prokr2 C T 2: 132,215,469 (GRCm39) V331M possibly damaging Het
Ptch1 T A 13: 63,670,918 (GRCm39) I871F probably damaging Het
Rps6ka5 C A 12: 100,564,168 (GRCm39) G227V probably damaging Het
Tcaim C T 9: 122,663,844 (GRCm39) Q445* probably null Het
Trappc14 G T 5: 138,261,720 (GRCm39) probably null Het
Trpc7 T C 13: 56,958,193 (GRCm39) probably null Het
Ubxn7 A G 16: 32,203,743 (GRCm39) E465G probably damaging Het
Unk G A 11: 115,938,628 (GRCm39) R77Q probably damaging Het
Vmn1r226 A T 17: 20,908,551 (GRCm39) N261I probably benign Het
Vmn1r87 T A 7: 12,865,886 (GRCm39) K134* probably null Het
Vmn2r10 T A 5: 109,143,944 (GRCm39) I669L probably benign Het
Vmn2r115 A G 17: 23,565,006 (GRCm39) I298V probably benign Het
Yipf2 T C 9: 21,501,144 (GRCm39) K85E probably damaging Het
Zfp979 A T 4: 147,698,083 (GRCm39) C209S probably benign 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
R7800:H1f3 UTSW 13 23,739,541 (GRCm39) missense possibly damaging 0.93
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'- AAGCTTAGAACATGTCCGAGAC -3'
(R):5'- AGCACCAGTCGCCTTCTTAG -3'

Sequencing Primer
(F):5'- TTAGAACATGTCCGAGACCGCTC -3'
(R):5'- GCTTCTTGGCCTTGGCCG -3'
Posted On 2018-06-22