Incidental Mutation 'IGL02322:H1f7'
ID 288287
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H1f7
Ensembl Gene ENSMUSG00000048077
Gene Name H1.7 linker histone
Synonyms H1T2, 1700026P10Rik, H1-7, H1fnt
Accession Numbers
Essential gene? Probably non essential (E-score: 0.224) question?
Stock # IGL02322
Quality Score
Status
Chromosome 15
Chromosomal Location 98153867-98155174 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98154757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 131 (T131A)
Ref Sequence ENSEMBL: ENSMUSP00000127616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060855]
AlphaFold Q8CJI4
Predicted Effect possibly damaging
Transcript: ENSMUST00000060855
AA Change: T131A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127616
Gene: ENSMUSG00000048077
AA Change: T131A

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acd G A 8: 106,425,268 (GRCm39) A355V probably benign Het
Adam9 A G 8: 25,445,990 (GRCm39) V801A probably damaging Het
Ankrd36 T A 11: 5,564,619 (GRCm39) V479D possibly damaging Het
Arid5a C T 1: 36,358,497 (GRCm39) P423L probably benign Het
Atp13a4 T C 16: 29,258,920 (GRCm39) I650V probably benign Het
B4gat1 C A 19: 5,089,155 (GRCm39) P51T possibly damaging Het
Caskin2 G A 11: 115,695,303 (GRCm39) T310M probably damaging Het
Ccdc121rt1 A G 1: 181,337,999 (GRCm39) S318P possibly damaging Het
Ccdc159 G T 9: 21,840,669 (GRCm39) V79L possibly damaging Het
Ccser2 A T 14: 36,631,086 (GRCm39) V18E probably damaging Het
Cct8l1 T C 5: 25,722,581 (GRCm39) V432A probably benign Het
Cdh11 A T 8: 103,374,151 (GRCm39) F529Y probably benign Het
Cep250 A G 2: 155,832,248 (GRCm39) E1370G probably damaging Het
Col22a1 C A 15: 71,694,502 (GRCm39) G717C unknown Het
Csmd2 T C 4: 128,357,520 (GRCm39) probably benign Het
Ctrb1 A C 8: 112,415,951 (GRCm39) probably null Het
Cyp2b19 T C 7: 26,461,803 (GRCm39) S208P possibly damaging Het
Dnmt3l T A 10: 77,888,572 (GRCm39) I158N possibly damaging Het
Evi5l T C 8: 4,237,236 (GRCm39) probably benign Het
Fkbpl A G 17: 34,864,298 (GRCm39) E22G probably benign Het
Flnb T A 14: 7,894,676 (GRCm38) F825I probably damaging Het
Gjb6 A T 14: 57,361,732 (GRCm39) N176K probably damaging Het
Gpc2 G T 5: 138,274,499 (GRCm39) probably null Het
Il20 C T 1: 130,837,313 (GRCm39) C104Y probably damaging Het
Mgat5 A G 1: 127,310,722 (GRCm39) N212S probably benign Het
Olfm5 C T 7: 103,803,608 (GRCm39) G210D probably damaging Het
Olig2 T C 16: 91,023,546 (GRCm39) S87P probably benign Het
Or2y15 A G 11: 49,350,784 (GRCm39) S93G probably benign Het
Or4c121 T A 2: 89,023,806 (GRCm39) T191S probably damaging Het
Osbpl7 G T 11: 96,946,950 (GRCm39) A418S probably benign Het
Otog G T 7: 45,950,881 (GRCm39) R2551L probably benign Het
Oxt A T 2: 130,418,200 (GRCm39) N24I probably damaging Het
Pibf1 A G 14: 99,448,419 (GRCm39) Y626C probably damaging Het
Plekhh2 A T 17: 84,896,894 (GRCm39) K934* probably null Het
Pramel14 G A 4: 143,718,591 (GRCm39) probably benign Het
Prdm9 A T 17: 15,783,110 (GRCm39) N57K probably damaging Het
Rapsn A G 2: 90,872,251 (GRCm39) D195G possibly damaging Het
Rimbp3 T G 16: 17,029,479 (GRCm39) F968V probably benign Het
Rpgrip1 A G 14: 52,387,499 (GRCm39) N1047S possibly damaging Het
Slc35g1 C T 19: 38,389,013 (GRCm39) R107* probably null Het
Ssh2 A C 11: 77,307,239 (GRCm39) probably null Het
Tiparp C A 3: 65,439,441 (GRCm39) C70* probably null Het
Vmn2r110 A G 17: 20,794,197 (GRCm39) I824T probably damaging Het
Vmn2r78 T C 7: 86,570,687 (GRCm39) S402P probably damaging Het
Vps13c A G 9: 67,845,183 (GRCm39) E2089G probably benign Het
Xirp2 A T 2: 67,339,082 (GRCm39) H441L probably benign Het
Zdhhc3 C T 9: 122,929,542 (GRCm39) G31D probably benign Het
Zfp330 A G 8: 83,497,450 (GRCm39) L64S probably damaging Het
Other mutations in H1f7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01693:H1f7 APN 15 98,154,262 (GRCm39) missense unknown
IGL02088:H1f7 APN 15 98,155,059 (GRCm39) missense probably damaging 0.98
IGL02697:H1f7 APN 15 98,155,050 (GRCm39) missense probably benign 0.02
F2404:H1f7 UTSW 15 98,155,090 (GRCm39) missense possibly damaging 0.95
R0584:H1f7 UTSW 15 98,154,958 (GRCm39) nonsense probably null
R1022:H1f7 UTSW 15 98,154,636 (GRCm39) missense unknown
R1024:H1f7 UTSW 15 98,154,636 (GRCm39) missense unknown
R1462:H1f7 UTSW 15 98,154,454 (GRCm39) missense unknown
R1462:H1f7 UTSW 15 98,154,454 (GRCm39) missense unknown
R1665:H1f7 UTSW 15 98,154,796 (GRCm39) missense probably benign 0.00
R1733:H1f7 UTSW 15 98,154,016 (GRCm39) missense unknown
R2213:H1f7 UTSW 15 98,154,219 (GRCm39) missense unknown
R4683:H1f7 UTSW 15 98,154,921 (GRCm39) missense probably damaging 0.99
R4969:H1f7 UTSW 15 98,154,216 (GRCm39) missense unknown
R6241:H1f7 UTSW 15 98,154,652 (GRCm39) missense unknown
R6489:H1f7 UTSW 15 98,154,888 (GRCm39) nonsense probably null
R6703:H1f7 UTSW 15 98,155,153 (GRCm39) start gained probably benign
R7131:H1f7 UTSW 15 98,154,250 (GRCm39) nonsense probably null
R7750:H1f7 UTSW 15 98,154,565 (GRCm39) missense unknown
R9454:H1f7 UTSW 15 98,154,823 (GRCm39) missense probably benign 0.01
R9461:H1f7 UTSW 15 98,155,138 (GRCm39) missense probably damaging 0.99
Z1177:H1f7 UTSW 15 98,155,128 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16