Incidental Mutation 'R0050:H1f8'
ID 64256
Institutional Source Beutler Lab
Gene Symbol H1f8
Ensembl Gene ENSMUSG00000042279
Gene Name H1.8 linker histone
Synonyms H1foo, H1-8, H1oo
MMRRC Submission 038344-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0050 (G1)
Quality Score 174
Status Validated
Chromosome 6
Chromosomal Location 115921899-115927197 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 115924729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 78 (K78N)
Ref Sequence ENSEMBL: ENSMUSP00000123797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037831] [ENSMUST00000161617] [ENSMUST00000161969] [ENSMUST00000162084] [ENSMUST00000205177]
AlphaFold Q8VIK3
Predicted Effect probably damaging
Transcript: ENSMUST00000037831
AA Change: K78N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036951
Gene: ENSMUSG00000042279
AA Change: K78N

DomainStartEndE-ValueType
low complexity region 4 24 N/A INTRINSIC
H15 43 110 8.84e-11 SMART
low complexity region 123 146 N/A INTRINSIC
low complexity region 182 197 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000161617
AA Change: K78N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125701
Gene: ENSMUSG00000042279
AA Change: K78N

DomainStartEndE-ValueType
low complexity region 4 24 N/A INTRINSIC
H15 43 110 8.84e-11 SMART
low complexity region 123 146 N/A INTRINSIC
low complexity region 182 197 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000161969
AA Change: K78N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123797
Gene: ENSMUSG00000042279
AA Change: K78N

DomainStartEndE-ValueType
low complexity region 4 24 N/A INTRINSIC
H15 43 110 8.84e-11 SMART
low complexity region 123 146 N/A INTRINSIC
low complexity region 182 197 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162084
Predicted Effect probably benign
Transcript: ENSMUST00000205177
SMART Domains Protein: ENSMUSP00000144958
Gene: ENSMUSG00000042279

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Meta Mutation Damage Score 0.1230 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.6%
Validation Efficiency 98% (54/55)
MGI Phenotype FUNCTION: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. The protein encoded is a replication-independent histone that is a member of the histone H1 family. This gene contains introns, unlike most histone genes and the encoded protein is expressed only in oocytes. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a targeted mutation exhibit no detectable abnormalities. Oocytes develop normally and no defects in fertility or litter sizes are observed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 C T 11: 110,036,417 (GRCm39) C564Y probably damaging Het
Adamts2 T C 11: 50,666,222 (GRCm39) V406A probably damaging Het
Ankar T A 1: 72,695,323 (GRCm39) E1093D probably damaging Het
Arhgef38 C A 3: 132,837,957 (GRCm39) D75Y probably damaging Het
Atg4b T A 1: 93,715,440 (GRCm39) probably benign Het
Cadm2 A G 16: 66,750,154 (GRCm39) probably benign Het
Ces2c T A 8: 105,574,831 (GRCm39) M96K probably benign Het
Dmrt3 C A 19: 25,599,953 (GRCm39) P266H probably damaging Het
Dock9 A G 14: 121,844,637 (GRCm39) V1124A probably benign Het
Edem1 T C 6: 108,805,809 (GRCm39) F37L possibly damaging Het
Ermp1 C A 19: 29,606,184 (GRCm39) A190S probably damaging Het
Gm10267 T A 18: 44,289,520 (GRCm39) probably benign Het
Golga2 T A 2: 32,182,139 (GRCm39) V29D probably damaging Het
Gprc6a T A 10: 51,491,485 (GRCm39) M755L probably damaging Het
Lama3 T A 18: 12,537,160 (GRCm39) H268Q probably damaging Het
Lrriq1 A G 10: 102,904,792 (GRCm39) V1614A probably damaging Het
Oaz2 A G 9: 65,595,084 (GRCm39) E61G probably damaging Het
Pear1 G T 3: 87,663,294 (GRCm39) Y441* probably null Het
Pkhd1l1 A T 15: 44,437,203 (GRCm39) T3493S possibly damaging Het
Plekhg5 T C 4: 152,192,545 (GRCm39) probably null Het
Ppp3cb A G 14: 20,581,820 (GRCm39) V65A possibly damaging Het
Rheb A T 5: 25,022,832 (GRCm39) probably benign Het
Ros1 G A 10: 51,977,899 (GRCm39) T1449M probably damaging Het
Septin4 T C 11: 87,458,172 (GRCm39) L182S probably damaging Het
Slc6a12 T C 6: 121,337,378 (GRCm39) probably benign Het
Stx2 A G 5: 129,076,572 (GRCm39) probably null Het
Tnxb T A 17: 34,892,299 (GRCm39) D764E probably damaging Het
Trmt2a A T 16: 18,068,707 (GRCm39) E234D probably damaging Het
Other mutations in H1f8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:H1f8 APN 6 115,924,588 (GRCm39) unclassified probably benign
IGL00864:H1f8 APN 6 115,925,587 (GRCm39) missense probably damaging 0.99
R0050:H1f8 UTSW 6 115,924,729 (GRCm39) missense probably damaging 1.00
R0056:H1f8 UTSW 6 115,923,934 (GRCm39) unclassified probably benign
R0081:H1f8 UTSW 6 115,926,942 (GRCm39) missense probably benign
R0559:H1f8 UTSW 6 115,924,760 (GRCm39) missense probably damaging 1.00
R1302:H1f8 UTSW 6 115,924,610 (GRCm39) nonsense probably null
R1476:H1f8 UTSW 6 115,924,701 (GRCm39) missense possibly damaging 0.61
R1824:H1f8 UTSW 6 115,925,719 (GRCm39) missense probably null 0.97
R3778:H1f8 UTSW 6 115,926,708 (GRCm39) critical splice donor site probably null
R3928:H1f8 UTSW 6 115,925,757 (GRCm39) missense probably benign 0.12
R3929:H1f8 UTSW 6 115,925,757 (GRCm39) missense probably benign 0.12
R6316:H1f8 UTSW 6 115,925,876 (GRCm39) critical splice donor site probably null
R8356:H1f8 UTSW 6 115,925,745 (GRCm39) missense probably benign
R8456:H1f8 UTSW 6 115,925,745 (GRCm39) missense probably benign
R8869:H1f8 UTSW 6 115,926,911 (GRCm39) missense probably benign 0.00
R9628:H1f8 UTSW 6 115,924,700 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CTTGCAGCCTAGCAGCTAGTGATG -3'
(R):5'- AGCAGCGTGTACTAAGGGTCTGAG -3'

Sequencing Primer
(F):5'- TGCTCTGCCCCACCAAAG -3'
(R):5'- GGCCTCCCCCTCCTTCTC -3'
Posted On 2013-08-06