Incidental Mutation 'R5560:Hist1h1c'
ID 436556
Institutional Source Beutler Lab
Gene Symbol Hist1h1c
Ensembl Gene ENSMUSG00000036181
Gene Name histone cluster 1, H1c
Synonyms H1.2, H1var1, H1f2, 0610008C09Rik, H1c
MMRRC Submission 043117-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5560 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 23738808-23740367 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23739407 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 187 (S187G)
Ref Sequence ENSEMBL: ENSMUSP00000045816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040914]
AlphaFold P15864
Predicted Effect probably benign
Transcript: ENSMUST00000040914
AA Change: S187G

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000045816
Gene: ENSMUSG00000036181
AA Change: S187G

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.7%
  • 20x: 92.8%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acyp2 C T 11: 30,506,354 (GRCm38) E98K possibly damaging Het
Adipor1 T C 1: 134,426,040 (GRCm38) W188R possibly damaging Het
Agrn T C 4: 156,178,497 (GRCm38) D441G probably damaging Het
Ankrd55 T C 13: 112,383,490 (GRCm38) S570P probably benign Het
Ano9 C G 7: 141,110,482 (GRCm38) G80R probably damaging Het
Arhgef2 T A 3: 88,634,437 (GRCm38) V250E probably damaging Het
Atp2b2 T C 6: 113,774,358 (GRCm38) D583G possibly damaging Het
Bcar3 T A 3: 122,426,575 (GRCm38) D40E possibly damaging Het
Capn12 A G 7: 28,882,860 (GRCm38) D133G probably benign Het
Ccna1 A T 3: 55,048,569 (GRCm38) Y269N probably damaging Het
Cct6b A T 11: 82,741,413 (GRCm38) Y250N probably damaging Het
Cep112 A C 11: 108,437,235 (GRCm38) K98Q probably damaging Het
Chst13 T C 6: 90,318,269 (GRCm38) D54G probably damaging Het
Clstn2 G T 9: 97,469,819 (GRCm38) H518N possibly damaging Het
Cntnap1 T A 11: 101,182,435 (GRCm38) L581M probably damaging Het
Cog3 T A 14: 75,729,393 (GRCm38) M446L probably damaging Het
D430042O09Rik T C 7: 125,854,561 (GRCm38) V1150A probably benign Het
Dennd2c T A 3: 103,161,555 (GRCm38) I756K probably damaging Het
Dennd3 T G 15: 73,532,895 (GRCm38) L273R probably damaging Het
Dhx34 C A 7: 16,218,541 (GRCm38) R53L probably benign Het
Dnah9 G A 11: 65,881,740 (GRCm38) T3722I probably benign Het
Dnajb12 GC G 10: 59,892,752 (GRCm38) probably null Het
Dusp6 A G 10: 99,266,241 (GRCm38) Y217C probably damaging Het
Dyrk1b G A 7: 28,184,253 (GRCm38) R178Q possibly damaging Het
Eif4g1 T A 16: 20,686,895 (GRCm38) C1009S probably benign Het
Fam198a T C 9: 121,978,223 (GRCm38) F478L possibly damaging Het
Frmpd1 A T 4: 45,243,697 (GRCm38) T57S probably damaging Het
Gjc2 A G 11: 59,177,359 (GRCm38) V99A possibly damaging Het
Gm9955 A T 18: 24,709,092 (GRCm38) probably benign Het
Gpr158 A G 2: 21,826,290 (GRCm38) I734V possibly damaging Het
Herc1 A T 9: 66,451,119 (GRCm38) H2494L probably benign Het
Hjurp GT GTT 1: 88,266,524 (GRCm38) probably null Het
Hmgcs1 A G 13: 119,699,815 (GRCm38) probably null Het
Invs A T 4: 48,416,084 (GRCm38) T655S probably benign Het
Ipo9 G A 1: 135,402,245 (GRCm38) L486F probably damaging Het
Kcnj6 A T 16: 94,832,965 (GRCm38) L96M probably benign Het
Lfng A G 5: 140,614,267 (GRCm38) D354G possibly damaging Het
Lgsn T C 1: 31,196,872 (GRCm38) L139P probably damaging Het
Madd C A 2: 91,163,545 (GRCm38) V923L probably damaging Het
Mfsd7a A T 5: 108,448,863 (GRCm38) M1K probably null Het
Mical1 A T 10: 41,478,965 (GRCm38) I157F probably damaging Het
Mis18bp1 T C 12: 65,152,816 (GRCm38) N154S possibly damaging Het
Mrps14 A G 1: 160,195,535 (GRCm38) K6R probably benign Het
Mug1 T A 6: 121,861,073 (GRCm38) C421S probably damaging Het
Myo18b A G 5: 112,868,295 (GRCm38) I696T probably damaging Het
Naf1 T C 8: 66,883,545 (GRCm38) Y375H probably damaging Het
Nsf T A 11: 103,863,255 (GRCm38) E485V possibly damaging Het
Nup188 A G 2: 30,309,885 (GRCm38) D307G probably damaging Het
Ocel1 C A 8: 71,372,478 (GRCm38) P108T probably damaging Het
Oip5 A G 2: 119,613,059 (GRCm38) S177P probably damaging Het
Olfr1436 G A 19: 12,298,644 (GRCm38) Q163* probably null Het
Olfr365 A G 2: 37,201,930 (GRCm38) I230V probably benign Het
Olfr51 A C 11: 51,007,523 (GRCm38) I184L possibly damaging Het
Olfr943 A C 9: 39,184,184 (GRCm38) E2A probably benign Het
Omg A G 11: 79,501,758 (GRCm38) W425R possibly damaging Het
Pikfyve A G 1: 65,253,407 (GRCm38) Y1339C probably damaging Het
Polr3e A G 7: 120,922,949 (GRCm38) D6G possibly damaging Het
Pou4f3 C A 18: 42,395,415 (GRCm38) P141Q probably benign Het
Rcsd1 T A 1: 165,655,501 (GRCm38) N337I possibly damaging Het
Rhoj C T 12: 75,391,712 (GRCm38) P91S probably damaging Het
Rnf10 A G 5: 115,249,998 (GRCm38) F367S probably damaging Het
Rnft1 A T 11: 86,493,196 (GRCm38) R307S probably benign Het
Ryr3 A T 2: 112,754,877 (GRCm38) F2788Y probably damaging Het
Scgb1c1 A G 7: 140,846,224 (GRCm38) K78E possibly damaging Het
Scn5a G T 9: 119,560,286 (GRCm38) A123E probably damaging Het
Setd2 T A 9: 110,549,839 (GRCm38) Y623* probably null Het
Tbl2 C T 5: 135,157,591 (GRCm38) Q216* probably null Het
Thegl A G 5: 77,016,486 (GRCm38) D112G possibly damaging Het
Tnc A G 4: 64,008,709 (GRCm38) I860T probably damaging Het
Trafd1 T C 5: 121,373,303 (GRCm38) K484R possibly damaging Het
Trank1 T C 9: 111,390,567 (GRCm38) V2124A probably damaging Het
Trpm4 A T 7: 45,310,332 (GRCm38) W713R probably damaging Het
Uap1l1 T C 2: 25,362,676 (GRCm38) T451A probably benign Het
Uba6 A T 5: 86,131,260 (GRCm38) C668S probably damaging Het
Ubxn11 T C 4: 134,126,624 (GRCm38) F441S probably damaging Het
Vmn1r22 C T 6: 57,900,738 (GRCm38) V85M probably damaging Het
Vmn2r72 T A 7: 85,751,942 (GRCm38) I90L probably damaging Het
Wdr60 T C 12: 116,218,113 (GRCm38) S769G probably damaging Het
Zfp330 T C 8: 82,764,956 (GRCm38) E196G probably benign Het
Zfp746 A G 6: 48,082,174 (GRCm38) V167A possibly damaging Het
Zfp994 T C 17: 22,201,713 (GRCm38) E85G possibly damaging Het
Other mutations in Hist1h1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00551:Hist1h1c APN 13 23,738,845 (GRCm38) utr 5 prime probably benign
R0234:Hist1h1c UTSW 13 23,739,123 (GRCm38) missense probably benign 0.03
R0234:Hist1h1c UTSW 13 23,739,123 (GRCm38) missense probably benign 0.03
R1954:Hist1h1c UTSW 13 23,739,402 (GRCm38) missense unknown
R2008:Hist1h1c UTSW 13 23,739,409 (GRCm38) missense probably benign 0.23
R2281:Hist1h1c UTSW 13 23,738,924 (GRCm38) missense probably benign 0.23
R3106:Hist1h1c UTSW 13 23,738,900 (GRCm38) missense unknown
R5688:Hist1h1c UTSW 13 23,739,165 (GRCm38) missense probably damaging 0.96
R9154:Hist1h1c UTSW 13 23,739,390 (GRCm38) missense unknown
Z1177:Hist1h1c UTSW 13 23,739,219 (GRCm38) missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-10-24