Incidental Mutation 'R0081:H1f8'
ID 19672
Institutional Source Beutler Lab
Gene Symbol H1f8
Ensembl Gene ENSMUSG00000042279
Gene Name H1.8 linker histone
Synonyms H1foo, H1-8, H1oo
MMRRC Submission 038368-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0081 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 115921899-115927197 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115926942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 273 (E273G)
Ref Sequence ENSEMBL: ENSMUSP00000036951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015511] [ENSMUST00000037831] [ENSMUST00000161617] [ENSMUST00000161969] [ENSMUST00000162084] [ENSMUST00000205177]
AlphaFold Q8VIK3
Predicted Effect probably benign
Transcript: ENSMUST00000015511
SMART Domains Protein: ENSMUSP00000015511
Gene: ENSMUSG00000030123

DomainStartEndE-ValueType
signal peptide 1 48 N/A INTRINSIC
Sema 61 531 6.52e-90 SMART
PSI 550 603 6.06e-12 SMART
PSI 703 755 1.06e-2 SMART
Blast:PSI 850 891 9e-20 BLAST
IPT 892 981 4.43e-20 SMART
IPT 982 1068 6.61e-19 SMART
IPT 1070 1149 6.13e-14 SMART
transmembrane domain 1271 1293 N/A INTRINSIC
Pfam:Plexin_cytopl 1345 1888 5e-238 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000037831
AA Change: E273G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036951
Gene: ENSMUSG00000042279
AA Change: E273G

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: ENSMUST00000161617
SMART Domains Protein: ENSMUSP00000125701
Gene: ENSMUSG00000042279

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: ENSMUST00000161969
SMART Domains Protein: ENSMUSP00000123797
Gene: ENSMUSG00000042279

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.2%
  • 10x: 88.5%
  • 20x: 63.6%
Validation Efficiency 94% (159/169)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 T C 8: 25,271,703 (GRCm39) D485G probably damaging Het
Adamts19 T C 18: 59,036,137 (GRCm39) probably null Het
Adgrd1 A T 5: 129,255,146 (GRCm39) I598F probably damaging Het
Adh5 A G 3: 138,157,174 (GRCm39) D245G probably benign Het
Adra2b T C 2: 127,206,212 (GRCm39) V238A probably benign Het
Ank1 G A 8: 23,606,258 (GRCm39) V1188I possibly damaging Het
Asap1 C T 15: 63,971,413 (GRCm39) G905D probably damaging Het
AW554918 T C 18: 25,477,959 (GRCm39) V428A probably benign Het
Birc6 T A 17: 74,950,436 (GRCm39) S3226T probably benign Het
Cdh17 A T 4: 11,785,280 (GRCm39) probably benign Het
Cyfip2 A T 11: 46,144,825 (GRCm39) Y676* probably null Het
Dcaf17 T A 2: 70,908,812 (GRCm39) probably benign Het
Dclre1a A G 19: 56,531,139 (GRCm39) F736L probably damaging Het
Ddx41 A T 13: 55,683,193 (GRCm39) H171Q possibly damaging Het
Dennd5b G T 6: 148,895,257 (GRCm39) Q1258K probably benign Het
Dock10 T C 1: 80,584,295 (GRCm39) D137G probably damaging Het
Dpyd G A 3: 118,737,904 (GRCm39) V482I probably benign Het
Erich6 A T 3: 58,543,547 (GRCm39) probably benign Het
Fam193b A G 13: 55,702,024 (GRCm39) probably benign Het
Foxp2 T C 6: 15,405,643 (GRCm39) probably benign Het
Frmd4a T C 2: 4,577,252 (GRCm39) probably null Het
Gas2l2 A G 11: 83,313,693 (GRCm39) S540P possibly damaging Het
Glis2 T C 16: 4,431,517 (GRCm39) V348A probably benign Het
Gm14443 C A 2: 175,011,729 (GRCm39) G239V probably damaging Het
Gpr158 T C 2: 21,831,528 (GRCm39) V876A probably damaging Het
Hadh C T 3: 131,029,285 (GRCm39) D245N probably damaging Het
Hk2 A T 6: 82,711,957 (GRCm39) probably benign Het
Ice1 A T 13: 70,767,163 (GRCm39) Y108* probably null Het
Il10ra T G 9: 45,167,247 (GRCm39) M435L probably benign Het
Inpp5k GT G 11: 75,521,973 (GRCm39) probably null Het
Kank4 G T 4: 98,666,567 (GRCm39) P627T probably benign Het
Kif16b A G 2: 142,549,346 (GRCm39) probably benign Het
Lipn A G 19: 34,054,376 (GRCm39) I205V probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Myh1 T C 11: 67,106,683 (GRCm39) M1255T probably benign Het
Myl3 A C 9: 110,596,997 (GRCm39) D119A probably damaging Het
Myo1d T G 11: 80,448,349 (GRCm39) K925N probably benign Het
Myoz1 T A 14: 20,699,622 (GRCm39) M239L probably benign Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Nf1 C A 11: 79,344,805 (GRCm39) probably benign Het
Npepl1 C T 2: 173,957,879 (GRCm39) P239S probably damaging Het
Olfml1 A G 7: 107,170,506 (GRCm39) K131R probably benign Het
Or12k5 G A 2: 36,895,462 (GRCm39) L55F probably damaging Het
Or1e29 A G 11: 73,667,935 (GRCm39) F73L possibly damaging Het
Or1j15 T A 2: 36,458,893 (GRCm39) Y94* probably null Het
Or1j20 T C 2: 36,760,022 (GRCm39) L148S possibly damaging Het
Or4c10 T A 2: 89,760,423 (GRCm39) I90K possibly damaging Het
Or4f7 A C 2: 111,644,213 (GRCm39) I286S probably damaging Het
Or5p52 C T 7: 107,502,212 (GRCm39) T96I probably benign Het
Or6c202 C T 10: 128,996,707 (GRCm39) D49N possibly damaging Het
Pde7a T C 3: 19,295,697 (GRCm39) probably benign Het
Pik3c2g T C 6: 139,903,519 (GRCm39) C591R probably benign Het
Pkn2 T G 3: 142,559,343 (GRCm39) K61Q probably damaging Het
Ppfia1 C A 7: 144,058,711 (GRCm39) G722C probably damaging Het
Ppp1cb T C 5: 32,644,958 (GRCm39) V263A probably damaging Het
Rab11fip2 A T 19: 59,895,567 (GRCm39) N440K possibly damaging Het
Rbm34 T A 8: 127,676,234 (GRCm39) K340N probably damaging Het
Samd3 T C 10: 26,147,399 (GRCm39) probably benign Het
Sfi1 TCGC TC 11: 3,096,254 (GRCm39) probably null Het
Sigirr T C 7: 140,671,285 (GRCm39) D399G probably damaging Het
Slc17a7 A G 7: 44,824,371 (GRCm39) E554G probably benign Het
Smc3 A G 19: 53,589,993 (GRCm39) probably benign Het
Tdrd1 T C 19: 56,819,703 (GRCm39) Y68H probably benign Het
Tespa1 T A 10: 130,196,719 (GRCm39) L219Q probably damaging Het
Tmem144 G A 3: 79,746,580 (GRCm39) probably benign Het
Ttc38 A G 15: 85,740,673 (GRCm39) S436G probably benign Het
Ttn T A 2: 76,581,423 (GRCm39) I23157F probably damaging Het
Ubxn2b T A 4: 6,203,875 (GRCm39) probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vmn2r72 T C 7: 85,401,044 (GRCm39) E125G probably benign Het
Vmn2r78 A T 7: 86,572,235 (GRCm39) D532V probably benign Het
Vwa8 C A 14: 79,320,222 (GRCm39) L1078I probably benign Het
Vwce A T 19: 10,641,453 (GRCm39) probably null Het
Zpr1 A G 9: 46,190,995 (GRCm39) D300G 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
R0050:H1f8 UTSW 6 115,924,729 (GRCm39) missense probably damaging 1.00
R0056:H1f8 UTSW 6 115,923,934 (GRCm39) unclassified 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'- TAGAGCCTGTAGACCCTTTGTCCC -3'
(R):5'- CAGTCCAGTGTCCAATGTACCAGTG -3'

Sequencing Primer
(F):5'- ctgggaaggaagcctgtg -3'
(R):5'- GTCCAATGTACCAGTGTGTGAATAC -3'
Posted On 2013-04-11