Incidental Mutation 'R2213:H1f7'
ID 239553
Institutional Source Beutler Lab
Gene Symbol H1f7
Ensembl Gene ENSMUSG00000048077
Gene Name H1.7 linker histone
Synonyms H1T2, 1700026P10Rik, H1-7, H1fnt
MMRRC Submission 040215-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.224) question?
Stock # R2213 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 98153867-98155174 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 98154219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 310 (Q310L)
Ref Sequence ENSEMBL: ENSMUSP00000127616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060855]
AlphaFold Q8CJI4
Predicted Effect unknown
Transcript: ENSMUST00000060855
AA Change: Q310L
SMART Domains Protein: ENSMUSP00000127616
Gene: ENSMUSG00000048077
AA Change: Q310L

DomainStartEndE-ValueType
low complexity region 134 245 N/A INTRINSIC
low complexity region 253 276 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 T C 13: 4,326,247 (GRCm39) D78G probably damaging Het
Anxa1 C T 19: 20,360,239 (GRCm39) R124H probably damaging Het
Arhgef4 G A 1: 34,846,230 (GRCm39) probably null Het
C87436 G A 6: 86,422,455 (GRCm39) V10I probably benign Het
Ces1a G T 8: 93,751,853 (GRCm39) P427Q probably damaging Het
Cpm T C 10: 117,495,744 (GRCm39) Y78H probably damaging Het
Csmd3 G A 15: 47,683,843 (GRCm39) T1663I possibly damaging Het
Cul7 T C 17: 46,962,398 (GRCm39) F10L probably damaging Het
Cyp2j5 T C 4: 96,547,852 (GRCm39) N130S probably benign Het
Dclk1 G A 3: 55,387,854 (GRCm39) C100Y probably damaging Het
Ddb1 T C 19: 10,585,691 (GRCm39) L135P probably damaging Het
Dixdc1 A G 9: 50,613,245 (GRCm39) S211P probably benign Het
Dnah12 G T 14: 26,460,485 (GRCm39) K970N probably benign Het
Eps15 A G 4: 109,218,417 (GRCm39) K391E probably damaging Het
Fabp9 A G 3: 10,259,860 (GRCm39) V51A probably damaging Het
Flg T C 3: 93,200,335 (GRCm39) probably benign Het
Flnb AAGGAG AAG 14: 7,881,652 (GRCm38) probably benign Het
Fscb A T 12: 64,520,890 (GRCm39) I192N possibly damaging Het
Galntl5 A G 5: 25,422,527 (GRCm39) I333V probably benign Het
Gcnt3 A T 9: 69,941,989 (GRCm39) V193E probably benign Het
Gle1 T C 2: 29,839,313 (GRCm39) F535S probably damaging Het
Gpr87 A T 3: 59,086,465 (GRCm39) S347T probably damaging Het
Gstm2 C T 3: 107,893,409 (GRCm39) R18H probably damaging Het
Haus6 C T 4: 86,500,229 (GRCm39) E927K possibly damaging Het
Hunk A G 16: 90,229,505 (GRCm39) N122S probably damaging Het
Itih4 T A 14: 30,612,670 (GRCm39) V232E probably damaging Het
Jag1 G T 2: 136,931,812 (GRCm39) D586E probably benign Het
Klk1b1 T C 7: 43,619,905 (GRCm39) S155P probably damaging Het
Lama1 G T 17: 68,084,029 (GRCm39) G1424* probably null Het
Lrp1 T A 10: 127,376,571 (GRCm39) N4279I probably damaging Het
Lrrc43 G A 5: 123,641,640 (GRCm39) V525I possibly damaging Het
Lrrc4c G A 2: 97,460,816 (GRCm39) V481M probably benign Het
Mecr T A 4: 131,581,126 (GRCm39) probably null Het
Megf10 T A 18: 57,421,081 (GRCm39) Y906* probably null Het
Mpdz A G 4: 81,228,409 (GRCm39) F1319L probably damaging Het
Mtf2 A G 5: 108,248,780 (GRCm39) E364G possibly damaging Het
Nelfe T A 17: 35,072,859 (GRCm39) D160E probably benign Het
Nin A G 12: 70,092,128 (GRCm39) L727P probably damaging Het
Npat A G 9: 53,463,681 (GRCm39) T155A probably benign Het
Nup58 T C 14: 60,476,945 (GRCm39) D242G probably benign Het
Or4a78 A T 2: 89,497,891 (GRCm39) L113Q probably damaging Het
Pnlip T C 19: 58,662,202 (GRCm39) V116A probably benign Het
Prl7a2 T A 13: 27,849,051 (GRCm39) L79F probably benign Het
Rbm25 A T 12: 83,722,856 (GRCm39) I760L probably benign Het
Rbms3 A T 9: 116,788,534 (GRCm39) probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rps10 C A 17: 27,849,473 (GRCm39) probably benign Het
Slc35e4 T C 11: 3,863,159 (GRCm39) E10G possibly damaging Het
Smad2 A T 18: 76,437,697 (GRCm39) T434S probably damaging Het
Sox30 C T 11: 45,875,679 (GRCm39) S477F probably damaging Het
Speer4a3 G T 5: 26,158,175 (GRCm39) T59K probably benign Het
Stat4 A T 1: 52,053,014 (GRCm39) D65V probably damaging Het
Strip2 A G 6: 29,931,147 (GRCm39) D366G probably damaging Het
Syngap1 C A 17: 27,172,043 (GRCm39) R84S probably damaging Het
Synpo2l A G 14: 20,710,734 (GRCm39) Y629H probably damaging Het
Taf4 A T 2: 179,577,683 (GRCm39) probably null Het
Ttc21a A G 9: 119,769,527 (GRCm39) H68R probably benign Het
Txndc8 T A 4: 57,984,199 (GRCm39) Q144L probably benign Het
Tyr T G 7: 87,142,086 (GRCm39) Q158P probably damaging Het
Uchl3 T A 14: 101,904,106 (GRCm39) probably null Het
Vwa5b1 T C 4: 138,332,123 (GRCm39) K298R probably benign Het
Wrn T C 8: 33,747,043 (GRCm39) N891S probably benign Het
Ylpm1 A G 12: 85,116,492 (GRCm39) S2125G probably benign 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
IGL02322:H1f7 APN 15 98,154,757 (GRCm39) missense possibly damaging 0.94
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
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
Predicted Primers PCR Primer
(F):5'- AAGACTTTGTGCATGCTTTTCC -3'
(R):5'- GACCTAGTGCGTTCCAAAGC -3'

Sequencing Primer
(F):5'- GAGCGTTGTCCAGAGCTG -3'
(R):5'- TTCCAAAGCCCGGGAACAGG -3'
Posted On 2014-10-15