Incidental Mutation 'R3120:H1f5'
ID 263187
Institutional Source Beutler Lab
Gene Symbol H1f5
Ensembl Gene ENSMUSG00000058773
Gene Name H1.5 linker histone, cluster member
Synonyms Hist1h1b, H1f5, H1s-3, H1B, H1.5
MMRRC Submission 040593-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.388) question?
Stock # R3120 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 21964053-21964795 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 21964215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 170 (S170R)
Ref Sequence ENSEMBL: ENSMUSP00000079356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080511] [ENSMUST00000189457]
AlphaFold P43276
Predicted Effect probably benign
Transcript: ENSMUST00000080511
AA Change: S170R

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000079356
Gene: ENSMUSG00000058773
AA Change: S170R

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
H15 34 99 5.02e-24 SMART
low complexity region 116 223 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189457
SMART Domains Protein: ENSMUSP00000139663
Gene: ENSMUSG00000101972

DomainStartEndE-ValueType
H3 34 136 1.5e-75 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
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]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bsx A G 9: 40,788,908 (GRCm39) K155R possibly damaging Het
Ccdc39 T C 3: 33,891,987 (GRCm39) K162E probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Dnah1 G A 14: 30,988,779 (GRCm39) R3351* probably null Het
Eml1 A G 12: 108,479,312 (GRCm39) R362G probably benign Het
Fam222b T C 11: 78,044,742 (GRCm39) L101P probably damaging Het
Fars2 A G 13: 36,430,400 (GRCm39) E276G probably damaging Het
Gatad1 G T 5: 3,691,456 (GRCm39) Y33* probably null Het
Gclc A C 9: 77,688,552 (GRCm39) E219A possibly damaging Het
Gm4846 A G 1: 166,319,117 (GRCm39) V207A probably benign Het
Hbq1a T C 11: 32,250,472 (GRCm39) L87P probably damaging Het
Magea6 A T X: 153,707,291 (GRCm39) I255N probably benign Het
Mfsd12 T G 10: 81,197,049 (GRCm39) V206G probably benign Het
Mis18bp1 T C 12: 65,203,762 (GRCm39) probably null Het
Nf1 C A 11: 79,455,725 (GRCm39) T550K probably damaging Het
Nlrp4f T C 13: 65,342,530 (GRCm39) T372A probably benign Het
Or5p70 T C 7: 107,994,930 (GRCm39) I201T possibly damaging Het
Pkdcc T C 17: 83,527,466 (GRCm39) Y215H probably damaging Het
Plekha5 A G 6: 140,537,367 (GRCm39) T253A probably benign Het
Polr2f T A 15: 79,028,788 (GRCm39) probably null Het
Prph2 C T 17: 47,234,298 (GRCm39) A289V possibly damaging Het
Ptdss2 C T 7: 140,732,132 (GRCm39) H140Y probably damaging Het
Rlf T A 4: 121,006,680 (GRCm39) I877L probably benign Het
Scgb2b2 T C 7: 31,003,001 (GRCm39) L32S possibly damaging Het
Sfpq T A 4: 126,915,926 (GRCm39) H239Q unknown Het
St6gal2 A T 17: 55,789,111 (GRCm39) R48S probably benign Het
Sybu T C 15: 44,536,355 (GRCm39) D657G possibly damaging Het
Syt15 A G 14: 33,944,950 (GRCm39) I166V probably benign Het
Taar7f C A 10: 23,925,478 (GRCm39) T24K probably benign Het
Tbcd T C 11: 121,499,474 (GRCm39) S1093P probably damaging Het
Tfap2c G A 2: 172,399,015 (GRCm39) V396M possibly damaging Het
Tnxb C T 17: 34,911,329 (GRCm39) T1544I possibly damaging Het
Trim28 A G 7: 12,762,341 (GRCm39) T322A probably damaging Het
Tubgcp3 G A 8: 12,707,626 (GRCm39) A121V possibly damaging Het
Vmn2r14 A T 5: 109,372,431 (GRCm39) W20R probably null Het
Zfp551 A G 7: 12,149,943 (GRCm39) F489L possibly damaging Het
Other mutations in H1f5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03026:H1f5 APN 13 21,964,117 (GRCm39) unclassified probably benign
R1104:H1f5 UTSW 13 21,964,451 (GRCm39) missense possibly damaging 0.66
R1295:H1f5 UTSW 13 21,964,169 (GRCm39) missense probably benign 0.23
R3147:H1f5 UTSW 13 21,964,285 (GRCm39) unclassified probably benign
R4222:H1f5 UTSW 13 21,964,147 (GRCm39) unclassified probably benign
R4597:H1f5 UTSW 13 21,964,681 (GRCm39) missense probably damaging 0.96
R6289:H1f5 UTSW 13 21,964,609 (GRCm39) missense probably damaging 1.00
Z1176:H1f5 UTSW 13 21,964,264 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCTCTAGGTGGCTCTGAAAAGAG -3'
(R):5'- AACAAGAAGGCGGCTTCTG -3'

Sequencing Primer
(F):5'- CTCTGAAAAGAGCCTTTGGGG -3'
(R):5'- AAGCCTAAGAAGACTGCG -3'
Posted On 2015-02-05