Incidental Mutation 'R5827:H1f6'
ID 450225
Institutional Source Beutler Lab
Gene Symbol H1f6
Ensembl Gene ENSMUSG00000036211
Gene Name H1.6 linker histone, cluster member
Synonyms H1ft, H1t, Hist1h1t
MMRRC Submission 043218-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5827 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 23879794-23880528 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23880185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 113 (K113E)
Ref Sequence ENSEMBL: ENSMUSP00000037304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018246] [ENSMUST00000041052] [ENSMUST00000102967]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000018246
SMART Domains Protein: ENSMUSP00000018246
Gene: ENSMUSG00000018102

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
H2B 28 124 1.43e-72 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000041052
AA Change: K113E

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000037304
Gene: ENSMUSG00000036211
AA Change: K113E

DomainStartEndE-ValueType
H15 37 102 5.15e-21 SMART
low complexity region 111 135 N/A INTRINSIC
low complexity region 142 161 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102967
SMART Domains Protein: ENSMUSP00000100032
Gene: ENSMUSG00000060678

DomainStartEndE-ValueType
H4 16 90 2.59e-29 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
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, Aug 2015]
PHENOTYPE: Homozygous null mice develop normally and exhibit normal testicular morphology, spermatogenesis and fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Agl T C 3: 116,574,703 (GRCm39) I34V probably damaging Het
Cavin4 A T 4: 48,672,074 (GRCm39) D173V probably damaging Het
Chd9 A G 8: 91,716,078 (GRCm39) D884G probably damaging Het
Col6a5 G A 9: 105,805,319 (GRCm39) R1196* probably null Het
Disc1 T C 8: 125,862,104 (GRCm39) L492P probably damaging Het
Dscam A G 16: 96,451,191 (GRCm39) probably null Het
Fbxw4 T C 19: 45,568,096 (GRCm39) T26A probably benign Het
Klhl24 T A 16: 19,938,871 (GRCm39) Y475* probably null Het
Map4k3 C T 17: 80,900,712 (GRCm39) probably null Het
Mfsd6 T C 1: 52,701,551 (GRCm39) E633G probably damaging Het
Mycn G A 12: 12,989,794 (GRCm39) R201* probably null Het
Nek11 T C 9: 105,191,944 (GRCm39) I155M probably damaging Het
Notch2 G A 3: 97,980,178 (GRCm39) V231I possibly damaging Het
Npnt A C 3: 132,612,536 (GRCm39) V187G possibly damaging Het
Nr1d2 C A 14: 18,222,248 (GRCm38) V8L possibly damaging Het
Nup188 C T 2: 30,229,859 (GRCm39) T1359I probably damaging Het
Or2m12 T A 16: 19,105,182 (GRCm39) I104L probably benign Het
Or4k35 A T 2: 111,100,266 (GRCm39) W149R probably damaging Het
Or5m11b C A 2: 85,805,650 (GRCm39) P21Q probably benign Het
Or8g36 T A 9: 39,422,354 (GRCm39) I221F probably damaging Het
P2rx2 C T 5: 110,488,195 (GRCm39) R453Q probably benign Het
Pcdhb7 A G 18: 37,475,077 (GRCm39) E71G probably benign Het
Pcdhb9 A T 18: 37,535,011 (GRCm39) D335V possibly damaging Het
Pcsk9 C T 4: 106,306,144 (GRCm39) G368R probably damaging Het
Ptgr2 G A 12: 84,342,110 (GRCm39) probably null Het
Rhebl1 T A 15: 98,776,151 (GRCm39) I168F probably damaging Het
Serpina3b A G 12: 104,097,036 (GRCm39) T106A probably benign Het
Sh3pxd2b A G 11: 32,372,422 (GRCm39) I530V probably benign Het
Skint10 T C 4: 112,603,972 (GRCm39) T72A probably benign Het
Slx4 G T 16: 3,819,148 (GRCm39) F8L possibly damaging Het
Tdp2 T C 13: 25,015,836 (GRCm39) L41P probably damaging Het
Tiam2 A G 17: 3,498,764 (GRCm39) I847V probably benign Het
Tmem200c A G 17: 69,149,004 (GRCm39) E529G probably benign Het
Tnpo1 T C 13: 98,993,416 (GRCm39) D590G probably damaging Het
Ube3d T C 9: 86,254,489 (GRCm39) T331A possibly damaging Het
Ugt1a2 T A 1: 88,128,787 (GRCm39) S143R probably damaging Het
Zfp58 A T 13: 67,639,412 (GRCm39) C360S probably damaging Het
Other mutations in H1f6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:H1f6 APN 13 23,880,032 (GRCm39) missense probably damaging 0.98
FR4304:H1f6 UTSW 13 23,879,903 (GRCm39) unclassified probably benign
FR4342:H1f6 UTSW 13 23,879,896 (GRCm39) unclassified probably benign
FR4548:H1f6 UTSW 13 23,879,903 (GRCm39) unclassified probably benign
R0167:H1f6 UTSW 13 23,879,886 (GRCm39) missense probably benign 0.02
R0238:H1f6 UTSW 13 23,880,307 (GRCm39) missense possibly damaging 0.92
R0238:H1f6 UTSW 13 23,880,307 (GRCm39) missense possibly damaging 0.92
R0564:H1f6 UTSW 13 23,880,307 (GRCm39) missense possibly damaging 0.92
R0726:H1f6 UTSW 13 23,880,307 (GRCm39) missense possibly damaging 0.92
R0827:H1f6 UTSW 13 23,880,204 (GRCm39) missense probably benign 0.01
R0972:H1f6 UTSW 13 23,880,307 (GRCm39) missense possibly damaging 0.92
R1128:H1f6 UTSW 13 23,880,307 (GRCm39) missense possibly damaging 0.92
R1129:H1f6 UTSW 13 23,880,307 (GRCm39) missense possibly damaging 0.92
R1130:H1f6 UTSW 13 23,880,307 (GRCm39) missense possibly damaging 0.92
R5652:H1f6 UTSW 13 23,880,219 (GRCm39) missense probably benign 0.01
R6538:H1f6 UTSW 13 23,879,904 (GRCm39) missense probably benign 0.06
R7729:H1f6 UTSW 13 23,880,455 (GRCm39) missense possibly damaging 0.93
R7774:H1f6 UTSW 13 23,880,183 (GRCm39) missense possibly damaging 0.91
R9229:H1f6 UTSW 13 23,880,029 (GRCm39) missense probably damaging 1.00
R9723:H1f6 UTSW 13 23,879,906 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCCAAGCTGATTCCTGAGG -3'
(R):5'- GGCTTTTACGTTGCTGCACG -3'

Sequencing Primer
(F):5'- TTTCCACATCGCAGGAACGG -3'
(R):5'- GTTGCTGCACGCCCTTG -3'
Posted On 2016-12-20