Incidental Mutation 'IGL01693:H1fnt'
ID104171
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H1fnt
Ensembl Gene ENSMUSG00000048077
Gene NameH1 histone family, member N, testis-specific
Synonyms1700026P10Rik, H1T2
Accession Numbers

Genbank: NM_027304; MGI: 1917319

Is this an essential gene? Probably non essential (E-score: 0.242) question?
Stock #IGL01693
Quality Score
Status
Chromosome15
Chromosomal Location98255986-98257293 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 98256381 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 296 (Y296D)
Ref Sequence ENSEMBL: ENSMUSP00000127616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060855]
Predicted Effect unknown
Transcript: ENSMUST00000060855
AA Change: Y296D
SMART Domains Protein: ENSMUSP00000127616
Gene: ENSMUSG00000048077
AA Change: Y296D

DomainStartEndE-ValueType
low complexity region 134 245 N/A INTRINSIC
low complexity region 253 276 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
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. This gene is intronless and encodes a replication-independent histone that is a member of the histone H1 family. This gene encodes a testis specific protein that is required for spermatogenesis and male fertility. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous null male mice display reduced fertility with asthenozoospermia, oligozoospermia, and teratozoospermia. [provided by MGI curators]
Allele List at MGI

All alleles(2) : Targeted, knock-out(2)

Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3830406C13Rik T C 14: 12,287,380 L55P probably damaging Het
Akr1b8 T A 6: 34,363,336 M145K possibly damaging Het
Arhgap39 T C 15: 76,725,967 D943G probably null Het
Arhgap42 A T 9: 9,006,506 W630R probably damaging Het
Bbs5 T A 2: 69,663,080 S225T probably benign Het
Cacna1f A T X: 7,625,367 N1159Y probably damaging Het
Catsperg1 A G 7: 29,185,098 probably benign Het
Cep97 A T 16: 55,930,594 W20R probably damaging Het
Cmtm8 G A 9: 114,789,705 T160M probably damaging Het
Csf2ra A G 19: 61,225,996 S244P possibly damaging Het
Dnah7b C T 1: 46,358,147 P3913S probably benign Het
Ezh1 C T 11: 101,215,258 M100I probably benign Het
Gadl1 C A 9: 115,949,585 P189Q probably damaging Het
Gcnt2 G A 13: 40,888,073 S236N probably benign Het
Gm17689 G A 9: 36,581,366 T81I probably benign Het
Hmcn1 T A 1: 150,583,280 D5191V probably damaging Het
Mycbp2 A T 14: 103,127,979 D4194E probably damaging Het
Ncf2 C A 1: 152,824,323 T203K probably benign Het
Olfr76 C A 19: 12,120,557 V40L probably benign Het
Phf8 T A X: 151,550,875 V113E probably damaging Het
Pkm G T 9: 59,670,522 K207N probably damaging Het
Slco1a6 G T 6: 142,133,209 S120* probably null Het
Sox10 C T 15: 79,156,273 V195M possibly damaging Het
Swt1 A G 1: 151,422,104 I24T probably benign Het
Thada T C 17: 84,446,644 T300A probably benign Het
Tmem2 A C 19: 21,801,887 I354L probably benign Het
Vmn2r17 T C 5: 109,452,518 Y561H probably damaging Het
Wdr78 T C 4: 103,087,330 probably null Het
Other mutations in H1fnt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02088:H1fnt APN 15 98257178 missense probably damaging 0.98
IGL02322:H1fnt APN 15 98256876 missense possibly damaging 0.94
IGL02697:H1fnt APN 15 98257169 missense probably benign 0.02
F2404:H1fnt UTSW 15 98257209 missense possibly damaging 0.95
R0584:H1fnt UTSW 15 98257077 nonsense probably null
R1022:H1fnt UTSW 15 98256755 missense unknown
R1024:H1fnt UTSW 15 98256755 missense unknown
R1462:H1fnt UTSW 15 98256573 missense unknown
R1462:H1fnt UTSW 15 98256573 missense unknown
R1665:H1fnt UTSW 15 98256915 missense probably benign 0.00
R1733:H1fnt UTSW 15 98256135 missense unknown
R2213:H1fnt UTSW 15 98256338 missense unknown
R4683:H1fnt UTSW 15 98257040 missense probably damaging 0.99
R4969:H1fnt UTSW 15 98256335 missense unknown
R6241:H1fnt UTSW 15 98256771 missense unknown
R6489:H1fnt UTSW 15 98257007 nonsense probably null
R6703:H1fnt UTSW 15 98257272 start gained probably benign
R7131:H1fnt UTSW 15 98256369 nonsense probably null
R7750:H1fnt UTSW 15 98256684 missense unknown
Z1177:H1fnt UTSW 15 98257247 missense probably damaging 1.00
Posted On2014-01-21