Incidental Mutation 'R6289:H1f5'
ID 508315
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 044459-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.388) question?
Stock # R6289 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 21964053-21964795 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 21964609 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 39 (P39Q)
Ref Sequence ENSEMBL: ENSMUSP00000079356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080511] [ENSMUST00000189457]
AlphaFold P43276
Predicted Effect probably damaging
Transcript: ENSMUST00000080511
AA Change: P39Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079356
Gene: ENSMUSG00000058773
AA Change: P39Q

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
Meta Mutation Damage Score 0.1753 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 100% (41/41)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 A G 12: 81,607,480 (GRCm39) V94A probably damaging Het
Ankrd36 T C 11: 5,578,837 (GRCm39) S34P probably damaging Het
Arid3c G A 4: 41,724,285 (GRCm39) probably benign Het
Atg16l1 C T 1: 87,683,937 (GRCm39) R6C probably damaging Het
Bex6 A G 16: 32,005,530 (GRCm39) I113V probably benign Het
Blk T C 14: 63,613,341 (GRCm39) probably null Het
C1s1 A G 6: 124,508,135 (GRCm39) F618S probably damaging Het
Casp8ap2 C T 4: 32,639,590 (GRCm39) H215Y probably damaging Het
Casp9 T A 4: 141,534,496 (GRCm39) V302E probably damaging Het
Ccl2 A C 11: 81,927,795 (GRCm39) K80Q probably benign Het
Cit T G 5: 116,144,385 (GRCm39) *2014E probably null Het
Dclk2 A T 3: 86,739,124 (GRCm39) S292T probably benign Het
Ddx23 T C 15: 98,547,765 (GRCm39) E463G probably benign Het
Dennd1b T C 1: 139,096,683 (GRCm39) probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fgf10 C A 13: 118,852,028 (GRCm39) Q37K probably benign Het
Fgf22 A G 10: 79,591,041 (GRCm39) D24G probably damaging Het
Gabra1 A G 11: 42,045,846 (GRCm39) I88T probably damaging Het
Grip2 A G 6: 91,755,852 (GRCm39) I586T probably benign Het
Hpse2 T A 19: 42,777,418 (GRCm39) N583Y probably null Het
Katnal2 A G 18: 77,105,151 (GRCm39) probably null Het
Keg1 T G 19: 12,691,937 (GRCm39) C85G probably damaging Het
Kidins220 T A 12: 25,106,615 (GRCm39) L1356H probably damaging Het
Lifr A G 15: 7,196,391 (GRCm39) K192E probably benign Het
Mks1 T C 11: 87,750,485 (GRCm39) probably null Het
Or5b110-ps1 T C 19: 13,260,158 (GRCm39) K88R possibly damaging Het
Rars1 C T 11: 35,716,894 (GRCm39) M207I probably damaging Het
Rbm6 T C 9: 107,655,147 (GRCm39) Y896C probably damaging Het
Scarf1 T A 11: 75,416,242 (GRCm39) W472R possibly damaging Het
Septin8 A G 11: 53,425,305 (GRCm39) N66S probably damaging Het
Smcr8 T C 11: 60,669,424 (GRCm39) F191L probably damaging Het
Tdrd6 A G 17: 43,935,411 (GRCm39) M1879T probably benign Het
Tlr3 C T 8: 45,849,966 (GRCm39) R901Q probably benign Het
Trpc4ap T C 2: 155,505,627 (GRCm39) T203A possibly damaging Het
Tubgcp5 A G 7: 55,445,671 (GRCm39) S58G probably benign Het
Ubtd2 A G 11: 32,466,177 (GRCm39) E132G probably damaging Het
Uggt2 T A 14: 119,279,014 (GRCm39) E831V probably damaging Het
Umodl1 A G 17: 31,201,325 (GRCm39) N418S probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Wdhd1 A C 14: 47,495,953 (GRCm39) I637S 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
R3120:H1f5 UTSW 13 21,964,215 (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
Z1176:H1f5 UTSW 13 21,964,264 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CCGCCTTCTTGTTAAGCTTGAAG -3'
(R):5'- CAAAATTTGCTCTTCGCGTTAG -3'

Sequencing Primer
(F):5'- GCCTTCTTGTTAAGCTTGAAGGAACC -3'
(R):5'- AAATTTGCTCTTCGCGTTAGATTTC -3'
Posted On 2018-03-15