Incidental Mutation 'IGL00551:Hist1h1c'
ID28806
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hist1h1c
Ensembl Gene ENSMUSG00000036181
Gene Namehistone cluster 1, H1c
SynonymsH1.2, H1var1, H1f2, 0610008C09Rik, H1c
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00551
Quality Score
Status
Chromosome13
Chromosomal Location23738808-23740367 bp(+) (GRCm38)
Type of Mutationutr 5 prime
DNA Base Change (assembly) C to A at 23738845 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000045816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040914]
Predicted Effect probably benign
Transcript: ENSMUST00000040914
SMART Domains Protein: ENSMUSP00000045816
Gene: ENSMUSG00000036181

DomainStartEndE-ValueType
low complexity region 3 29 N/A INTRINSIC
H15 34 99 2.8e-22 SMART
low complexity region 116 212 N/A INTRINSIC
Coding Region Coverage
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 member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygotes for targeted null mutations are normal, but Hist1h1c/Hist1h1e double knockout males are significantly smaller than normal. The Hist1h1c/Hist1h1e/Hist1h1d triple knockout is lethal by embryonic day 12.5, and heterozygotes are underrepresented. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Art2b C T 7: 101,580,569 C41Y probably damaging Het
Btk A G X: 134,573,934 Y42H probably damaging Het
Cacna1e T C 1: 154,403,683 D1720G probably damaging Het
Ccr5 T C 9: 124,124,588 I76T probably damaging Het
Chd3 A G 11: 69,346,629 V1913A probably damaging Het
Dmxl2 A G 9: 54,450,838 Y526H probably damaging Het
Dnah8 A T 17: 30,663,478 K675* probably null Het
Eif2b1 A G 5: 124,576,869 F115L probably damaging Het
Erlin1 T C 19: 44,059,146 D112G probably damaging Het
Fabp12 A G 3: 10,246,055 probably benign Het
Fam47c A G X: 78,738,454 E214G probably damaging Het
Fkbp5 G T 17: 28,401,046 probably benign Het
Kidins220 G T 12: 25,038,560 probably benign Het
Limd2 T C 11: 106,159,205 E15G probably benign Het
Mga T A 2: 119,919,814 C696S possibly damaging Het
Naa16 A G 14: 79,355,729 F468L probably damaging Het
Ndufaf1 A G 2: 119,660,469 S37P probably damaging Het
Phrf1 A G 7: 141,258,877 probably benign Het
Prr14 A G 7: 127,474,647 T228A probably benign Het
Rfc1 A T 5: 65,296,009 F265L probably benign Het
Selenos A G 7: 66,087,194 E137G probably benign Het
Tars T C 15: 11,388,221 probably null Het
Tpcn1 A G 5: 120,560,325 I44T probably benign Het
Usp26 A G X: 51,757,305 V31A probably benign Het
Other mutations in Hist1h1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0234:Hist1h1c UTSW 13 23739123 missense probably benign 0.03
R0234:Hist1h1c UTSW 13 23739123 missense probably benign 0.03
R1954:Hist1h1c UTSW 13 23739402 missense unknown
R2008:Hist1h1c UTSW 13 23739409 missense probably benign 0.23
R2281:Hist1h1c UTSW 13 23738924 missense probably benign 0.23
R3106:Hist1h1c UTSW 13 23738900 missense unknown
R5560:Hist1h1c UTSW 13 23739407 missense probably benign 0.23
R5688:Hist1h1c UTSW 13 23739165 missense probably damaging 0.96
Z1177:Hist1h1c UTSW 13 23739219 missense unknown
Posted On2013-04-17