Incidental Mutation 'IGL02088:H1fnt'
ID279316
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: 0.225) question?
Stock #IGL02088
Quality Score
Status
Chromosome15
Chromosomal Location98255986-98257293 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 98257178 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 30 (T30K)
Ref Sequence ENSEMBL: ENSMUSP00000127616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060855]
Predicted Effect probably damaging
Transcript: ENSMUST00000060855
AA Change: T30K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127616
Gene: ENSMUSG00000048077
AA Change: T30K

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr4 T C 9: 104,098,881 E289G probably damaging Het
Aldh1l1 A T 6: 90,580,590 probably benign Het
Ampd3 T A 7: 110,793,686 D220E probably benign Het
Ank3 T C 10: 69,999,373 V136A probably damaging Het
Atg14 T C 14: 47,542,859 K486R probably benign Het
Axin1 A G 17: 26,188,695 I637V probably benign Het
Axin2 T A 11: 108,923,616 F110Y probably damaging Het
Cdh12 A T 15: 21,480,339 K214* probably null Het
Cfap44 A C 16: 44,451,628 E1248A possibly damaging Het
Cryba4 A G 5: 112,251,009 probably benign Het
Cyp2c68 A G 19: 39,703,521 probably benign Het
Dnah5 G T 15: 28,459,118 probably null Het
Dok3 A T 13: 55,524,370 V165E probably damaging Het
Etl4 A T 2: 20,806,548 R1147S probably damaging Het
Fam212a A G 9: 107,984,457 F220S probably damaging Het
Fbxl6 G T 15: 76,535,906 C502* probably null Het
Gp2 A T 7: 119,454,469 Y90N probably damaging Het
Itfg2 A G 6: 128,411,606 V306A probably benign Het
Lrig2 T C 3: 104,467,108 Y219C probably damaging Het
Mccc1 A T 3: 35,974,202 I485N probably damaging Het
Mettl25 A G 10: 105,823,250 F391L probably damaging Het
Muc19 C T 15: 91,891,168 noncoding transcript Het
Muc2 T C 7: 141,751,504 C182R probably damaging Het
Nlrp4g T C 9: 124,350,453 noncoding transcript Het
Nms A G 1: 38,939,277 probably benign Het
Nr3c1 T C 18: 39,424,391 N503S probably damaging Het
Olfr1495 T C 19: 13,768,666 F108S probably damaging Het
Olfr186 A G 16: 59,027,052 L285P probably damaging Het
Olfr828 C T 9: 18,815,923 V124I probably benign Het
Pcdhb5 G A 18: 37,321,959 S464N probably benign Het
Pcgf6 T C 19: 47,050,804 T6A unknown Het
Rdx A G 9: 52,060,883 probably benign Het
Shmt1 T C 11: 60,789,653 T403A probably damaging Het
Slc35d1 A G 4: 103,211,325 F148L probably benign Het
Tk1 A G 11: 117,824,665 probably benign Het
Tnks T A 8: 34,839,994 I1134F possibly damaging Het
Ttn A G 2: 76,726,691 V29990A probably damaging Het
Zcchc11 A G 4: 108,512,218 probably benign Het
Other mutations in H1fnt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01693:H1fnt APN 15 98256381 missense unknown
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 On2015-04-16