Incidental Mutation 'R5316:H1f1'
ID 405844
Institutional Source Beutler Lab
Gene Symbol H1f1
Ensembl Gene ENSMUSG00000049539
Gene Name H1.1 linker histone, cluster member
Synonyms H1.1, H1var3, H1a, Hist1h1a
MMRRC Submission 042899-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5316 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 23947649-23948389 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 23948085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000100029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055770] [ENSMUST00000091701] [ENSMUST00000102964]
AlphaFold P43275
Predicted Effect unknown
Transcript: ENSMUST00000055770
AA Change: S129F
SMART Domains Protein: ENSMUSP00000062030
Gene: ENSMUSG00000049539
AA Change: S129F

DomainStartEndE-ValueType
H15 36 101 3.22e-22 SMART
low complexity region 120 213 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000091701
SMART Domains Protein: ENSMUSP00000089293
Gene: ENSMUSG00000069265

DomainStartEndE-ValueType
H3 34 136 1.5e-75 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102964
SMART Domains Protein: ENSMUSP00000100029
Gene: ENSMUSG00000060093

DomainStartEndE-ValueType
H4 16 90 2.59e-29 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
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: Mice homozygous for a targeted null mutation are viable, fertile and do not exhibit any defects in the reproductive system or in spermatogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b G A 12: 113,455,013 (GRCm39) R610H probably damaging Het
Agap2 G A 10: 126,918,296 (GRCm39) probably null Het
Apol10a A G 15: 77,372,729 (GRCm39) T122A probably damaging Het
Arhgap17 G T 7: 122,895,750 (GRCm39) A458D possibly damaging Het
Cd80 C T 16: 38,294,239 (GRCm39) Q41* probably null Het
Cmss1 T G 16: 57,122,638 (GRCm39) K252T probably damaging Het
Cog2 A G 8: 125,255,779 (GRCm39) D122G probably benign Het
Dsc3 T A 18: 20,096,598 (GRCm39) D841V possibly damaging Het
Dst C A 1: 34,262,929 (GRCm39) Q4549K probably damaging Het
Efcab3 A G 11: 104,967,286 (GRCm39) I5275M possibly damaging Het
Epha6 A G 16: 59,775,083 (GRCm39) L711P probably damaging Het
Gabrg2 T A 11: 41,867,385 (GRCm39) N78I probably damaging Het
Htra3 T C 5: 35,821,420 (GRCm39) D319G probably damaging Het
Jph1 T C 1: 17,161,750 (GRCm39) Y304C probably damaging Het
Kat2a G T 11: 100,602,996 (GRCm39) Q79K possibly damaging Het
Klhl7 C T 5: 24,332,748 (GRCm39) A102V probably benign Het
Lamb3 A G 1: 193,012,501 (GRCm39) H426R probably benign Het
Lemd3 C A 10: 120,788,161 (GRCm39) probably null Het
Mcm3ap A C 10: 76,306,760 (GRCm39) D291A possibly damaging Het
Micos13 G A 17: 56,916,649 (GRCm39) S7L possibly damaging Het
Mme C G 3: 63,276,375 (GRCm39) F717L probably damaging Het
Mybpc2 T A 7: 44,169,806 (GRCm39) K171* probably null Het
Naip6 T C 13: 100,420,290 (GRCm39) N1327D probably benign Het
Nr2e1 A T 10: 42,447,487 (GRCm39) M175K probably benign Het
Or8a1b A T 9: 37,622,981 (GRCm39) V198D possibly damaging Het
Or8s5 G A 15: 98,238,246 (GRCm39) A208V probably benign Het
Ppef2 A T 5: 92,383,670 (GRCm39) M480K probably benign Het
Prkar2b A T 12: 32,110,984 (GRCm39) L33Q probably damaging Het
Ralgps2 A T 1: 156,641,067 (GRCm39) V496E probably damaging Het
Rbms2 G A 10: 127,981,606 (GRCm39) P81L probably damaging Het
Scara5 T C 14: 65,927,264 (GRCm39) S54P possibly damaging Het
Slc18a3 T C 14: 32,184,814 (GRCm39) D523G probably benign Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Srrt C A 5: 137,294,813 (GRCm39) A747S probably benign Het
Sycp2 C T 2: 177,998,296 (GRCm39) D1075N probably benign Het
Tasor A G 14: 27,193,992 (GRCm39) D1064G possibly damaging Het
Vat1l G A 8: 115,011,088 (GRCm39) V279I probably damaging Het
Zfp677 A G 17: 21,617,410 (GRCm39) K156E probably damaging Het
Other mutations in H1f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0414:H1f1 UTSW 13 23,948,141 (GRCm39) unclassified probably benign
R2080:H1f1 UTSW 13 23,947,932 (GRCm39) missense possibly damaging 0.81
R8099:H1f1 UTSW 13 23,947,832 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCTTCCAAAGAGCGCAGTG -3'
(R):5'- TTCGCCTTGGAAGCCTTAGG -3'

Sequencing Primer
(F):5'- TCAAGAAGTCGCTGGCTG -3'
(R):5'- GCTTCACTGCCTTCGCCTTG -3'
Posted On 2016-07-22