Incidental Mutation 'R4222:H1f5'
ID 319416
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 041042-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.388) question?
Stock # R4222 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 21964053-21964795 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 21964147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080511] [ENSMUST00000189457]
AlphaFold P43276
Predicted Effect unknown
Transcript: ENSMUST00000080511
AA Change: V193E
SMART Domains Protein: ENSMUSP00000079356
Gene: ENSMUSG00000058773
AA Change: V193E

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 0.0741 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency 91% (49/54)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 A G 17: 56,092,121 (GRCm39) Y127C probably damaging Het
Aif1l A T 2: 31,852,251 (GRCm39) S40C probably damaging Het
Alkal1 A G 1: 6,458,839 (GRCm39) K76R probably damaging Het
Atm T C 9: 53,391,969 (GRCm39) S1807G probably benign Het
Bhmt-ps1 T A 4: 26,369,352 (GRCm39) noncoding transcript Het
Brd10 A T 19: 29,696,149 (GRCm39) S1115T probably benign Het
Cyp3a11 A T 5: 145,797,276 (GRCm39) Y368N probably damaging Het
Gar1 A T 3: 129,624,455 (GRCm39) probably benign Het
Gm5265 A T 1: 169,281,370 (GRCm39) noncoding transcript Het
Gm7964 T G 7: 83,406,030 (GRCm39) N281K probably damaging Het
Grin1 T C 2: 25,187,332 (GRCm39) probably benign Het
Hapln4 T A 8: 70,539,610 (GRCm39) W214R probably damaging Het
Ift56 A G 6: 38,372,010 (GRCm39) Y200C probably damaging Het
Irgq C A 7: 24,233,050 (GRCm39) A297D possibly damaging Het
Kri1 T C 9: 21,192,359 (GRCm39) E145G probably benign Het
Lama3 T C 18: 12,583,460 (GRCm39) C683R probably damaging Het
Mrpl22 T A 11: 58,062,693 (GRCm39) probably benign Het
Myo7a T A 7: 97,722,436 (GRCm39) Q1163L possibly damaging Het
Nipsnap3a T A 4: 52,997,251 (GRCm39) D172E probably benign Het
Nrxn3 G T 12: 89,499,762 (GRCm39) G718* probably null Het
Olfm3 C T 3: 114,883,820 (GRCm39) Q41* probably null Het
Or52z12 A G 7: 103,233,966 (GRCm39) T246A probably damaging Het
Or8u8 G T 2: 86,012,341 (GRCm39) T38K probably damaging Het
Parm1 G A 5: 91,741,726 (GRCm39) M31I probably benign Het
Phc3 A T 3: 30,990,968 (GRCm39) S383R probably damaging Het
Pkn2 A T 3: 142,499,627 (GRCm39) L950* probably null Het
Plec C T 15: 76,061,519 (GRCm39) R2671H probably damaging Het
Ptbp1 T C 10: 79,695,047 (GRCm39) I125T probably benign Het
Ptch1 C T 13: 63,682,143 (GRCm39) R537H probably damaging Het
Ptk7 A T 17: 46,885,389 (GRCm39) M679K probably benign Het
Ptx3 C T 3: 66,132,127 (GRCm39) T216I probably damaging Het
Rrp8 T C 7: 105,383,229 (GRCm39) I346V possibly damaging Het
Rsrc1 A G 3: 66,901,900 (GRCm39) K17E unknown Het
Ryr2 T A 13: 11,752,759 (GRCm39) E1854V possibly damaging Het
Semp2l2a T C 8: 13,888,061 (GRCm39) E10G probably benign Het
Slc25a45 A T 19: 5,930,146 (GRCm39) I39F probably damaging Het
Spag5 G A 11: 78,195,337 (GRCm39) V215I probably damaging Het
Ston1 A G 17: 88,944,199 (GRCm39) Y535C probably damaging Het
Tbc1d14 A T 5: 36,650,452 (GRCm39) S395T probably benign Het
Tlr11 C T 14: 50,599,306 (GRCm39) P431S probably damaging Het
Trerf1 G T 17: 47,625,727 (GRCm39) noncoding transcript Het
Trim43b T A 9: 88,972,692 (GRCm39) Q154L probably benign Het
Vmn1r49 A G 6: 90,049,228 (GRCm39) F258S probably benign Het
Vmn1r-ps103 C A 13: 22,626,198 (GRCm39) noncoding transcript Het
Vmn2r14 A G 5: 109,364,149 (GRCm39) M589T probably benign Het
Vmn2r60 A T 7: 41,765,952 (GRCm39) T20S probably benign Het
Zbtb5 A G 4: 44,993,855 (GRCm39) probably null Het
Zfp35 T G 18: 24,136,246 (GRCm39) F197V 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
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'- TAACTGTCCCAATCGAGACAG -3'
(R):5'- AAGAAGCCTGCAGGTGCTAC -3'

Sequencing Primer
(F):5'- AGCATAAGTGTGTACAGCTACATTC -3'
(R):5'- TGCAGGTGCTACCCCTAAAAAG -3'
Posted On 2015-06-10