Incidental Mutation 'R7902:H1f3'
ID 610056
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 045954-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7902 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 23739206-23739981 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23739505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 81 (I81T)
Ref Sequence ENSEMBL: ENSMUSP00000044395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045301] [ENSMUST00000102971]
AlphaFold P43277
Predicted Effect probably damaging
Transcript: ENSMUST00000045301
AA Change: I81T

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000044395
Gene: ENSMUSG00000052565
AA Change: I81T

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: 99.1%
Validation Efficiency 97% (34/35)
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
A530084C06Rik G T 13: 31,742,978 (GRCm39) R92S unknown Het
Adamts14 T C 10: 61,041,176 (GRCm39) S842G possibly damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Ccdc7a A G 8: 129,562,654 (GRCm39) I1108T possibly damaging Het
Col12a1 T A 9: 79,548,863 (GRCm39) M2161L probably benign Het
Col14a1 T C 15: 55,364,832 (GRCm39) I1647T probably benign Het
Defb26 A T 2: 152,350,156 (GRCm39) C41* probably null Het
Dennd3 T G 15: 73,439,964 (GRCm39) probably benign Het
Edem1 C T 6: 108,831,338 (GRCm39) R600W possibly damaging Het
F13a1 C A 13: 37,172,913 (GRCm39) G156W probably damaging Het
Foxk2 A G 11: 121,190,553 (GRCm39) T565A probably benign Het
Fsip2 A T 2: 82,808,168 (GRCm39) I1496F possibly damaging Het
Fyb1 T C 15: 6,690,197 (GRCm39) probably null Het
Gapdhs T C 7: 30,436,146 (GRCm39) Y148C probably damaging Het
Hddc2 A T 10: 31,192,289 (GRCm39) R64S probably damaging Het
Hddc2 T A 10: 31,196,338 (GRCm39) probably null Het
Klk10 T A 7: 43,432,942 (GRCm39) S113T probably benign Het
Lin7a T C 10: 107,159,843 (GRCm39) S52P possibly damaging Het
Nbeal1 A T 1: 60,331,029 (GRCm39) I2213L probably damaging Het
Nbeal2 T C 9: 110,466,615 (GRCm39) T763A probably benign Het
Nlrp4a T A 7: 26,149,482 (GRCm39) I363N possibly damaging Het
Oat C T 7: 132,161,393 (GRCm39) V381I probably benign Het
Or52n2c A G 7: 104,574,557 (GRCm39) L138P probably damaging Het
Plpp2 A T 10: 79,363,378 (GRCm39) I207N possibly damaging Het
Rps6ka4 T C 19: 6,808,679 (GRCm39) E522G possibly damaging Het
Sars2 T C 7: 28,441,628 (GRCm39) V63A probably benign Het
Sgf29 C T 7: 126,271,350 (GRCm39) R209C probably damaging Het
Sptbn1 G A 11: 30,086,048 (GRCm39) A1220V probably damaging Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Tnrc18 T C 5: 142,757,902 (GRCm39) E1055G Het
Vmn1r158 A T 7: 22,489,433 (GRCm39) C259S possibly damaging Het
Vmn2r120 T G 17: 57,816,244 (GRCm39) I704L possibly damaging Het
Vwa8 A G 14: 79,329,731 (GRCm39) S1188G probably benign Het
Zfp12 A G 5: 143,231,535 (GRCm39) K653E probably damaging Het
Zfp933 T A 4: 147,911,058 (GRCm39) R179S probably damaging Het
Zfp937 A T 2: 150,080,681 (GRCm39) H237L probably damaging Het
Zkscan5 A C 5: 145,157,676 (GRCm39) H726P 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
R7800:H1f3 UTSW 13 23,739,541 (GRCm39) missense possibly damaging 0.93
R7818:H1f3 UTSW 13 23,739,165 (GRCm39) unclassified probably benign
X0065:H1f3 UTSW 13 23,739,321 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- CTTAGAACATGTCCGAGACCG -3'
(R):5'- AGCACCAGTCGCCTTCTTAG -3'

Sequencing Primer
(F):5'- CACCTGTGGAGAAGACACCTGTG -3'
(R):5'- GGCTTCTTGGCTGCTCC -3'
Posted On 2019-12-20