Incidental Mutation 'IGL00777:Hist1h1e'
ID11274
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hist1h1e
Ensembl Gene ENSMUSG00000051627
Gene Namehistone cluster 1, H1e
SynonymsH1-4, H1var2, H1s-4, H1f4, H1e
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00777
Quality Score
Status
Chromosome13
Chromosomal Location23620629-23622558 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to A at 23622022 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000089296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051091] [ENSMUST00000062045] [ENSMUST00000091704]
Predicted Effect probably benign
Transcript: ENSMUST00000051091
SMART Domains Protein: ENSMUSP00000061247
Gene: ENSMUSG00000047246

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
H2B 28 124 1.43e-72 SMART
Predicted Effect unknown
Transcript: ENSMUST00000062045
AA Change: K159M
SMART Domains Protein: ENSMUSP00000057308
Gene: ENSMUSG00000051627
AA Change: K159M

DomainStartEndE-ValueType
low complexity region 5 15 N/A INTRINSIC
H15 34 99 7.5e-23 SMART
low complexity region 116 219 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000091704
SMART Domains Protein: ENSMUSP00000089296
Gene: ENSMUSG00000047246

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
H2B 28 124 1.43e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120330
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129312
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 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, Aug 2015]
PHENOTYPE: Homozygotes for targeted null mutations are normal, but Hist1h1e/Hist1h1c double knockout males are significantly smaller than normal. The Hist1h1e/Hist1h1d/Hist1h1e 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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik C A 1: 26,682,092 D1336Y probably damaging Het
Adgra3 A G 5: 50,025,758 I82T probably damaging Het
Cd72 T C 4: 43,448,365 Y305C possibly damaging Het
Cldn34c1 T C X: 123,142,873 L103P probably damaging Het
Dhtkd1 A T 2: 5,929,657 L234H probably damaging Het
Hgd A G 16: 37,613,249 T77A probably damaging Het
Itgad A T 7: 128,203,850 T1059S probably damaging Het
Klhl20 T C 1: 161,109,755 T17A probably benign Het
Lct T C 1: 128,287,556 D1761G probably benign Het
Mmp23 T G 4: 155,651,007 Y334S possibly damaging Het
Ncapg A G 5: 45,695,765 S858G possibly damaging Het
Nsd1 G A 13: 55,238,735 G101E probably damaging Het
Pdia3 T A 2: 121,429,556 L192Q probably damaging Het
Phex A G X: 157,177,532 L672P probably damaging Het
Reln A G 5: 22,018,850 probably null Het
Rfk T A 19: 17,395,336 V74E probably benign Het
Rubcn A G 16: 32,836,563 C467R probably damaging Het
Rufy2 G A 10: 62,991,054 C124Y probably damaging Het
Slc8a1 A G 17: 81,648,580 I343T probably damaging Het
Smyd4 T A 11: 75,390,808 M369K probably benign Het
Tmem131l G T 3: 83,899,290 P1408T probably damaging Het
Tmprss11f A G 5: 86,524,065 Y423H probably damaging Het
Wdr70 A T 15: 8,019,607 M303K probably benign Het
Other mutations in Hist1h1e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03354:Hist1h1e APN 13 23622077 unclassified probably benign
PIT4469001:Hist1h1e UTSW 13 23622379 missense probably damaging 1.00
R2339:Hist1h1e UTSW 13 23621960 unclassified probably benign
R3110:Hist1h1e UTSW 13 23621846 unclassified probably benign
R3112:Hist1h1e UTSW 13 23621846 unclassified probably benign
R3757:Hist1h1e UTSW 13 23622257 nonsense probably null
R3758:Hist1h1e UTSW 13 23622257 nonsense probably null
R5116:Hist1h1e UTSW 13 23622287 missense probably damaging 1.00
R6034:Hist1h1e UTSW 13 23622313 missense probably damaging 1.00
R6034:Hist1h1e UTSW 13 23622313 missense probably damaging 1.00
R7008:Hist1h1e UTSW 13 23622209 missense probably damaging 1.00
R7051:Hist1h1e UTSW 13 23622439 missense probably benign 0.00
R7317:Hist1h1e UTSW 13 23622367 missense probably damaging 1.00
R8220:Hist1h1e UTSW 13 23621939 missense probably benign 0.23
Posted On2012-12-06