Incidental Mutation 'R3112:H1f4'
ID 263751
Institutional Source Beutler Lab
Gene Symbol H1f4
Ensembl Gene ENSMUSG00000051627
Gene Name H1.4 linker histone, cluster member
Synonyms H1f4, H1-4, H1e, H1var2, Hist1h1e, H1s-4
MMRRC Submission 040585-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3112 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 23805760-23806541 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 23805829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000089296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051091] [ENSMUST00000062045] [ENSMUST00000091704]
AlphaFold P43274
Predicted Effect probably benign
Transcript: ENSMUST00000051091
SMART Domains Protein: ENSMUSP00000061247
Gene: ENSMUSG00000047246

low complexity region 2 18 N/A INTRINSIC
H2B 28 124 1.43e-72 SMART
Predicted Effect unknown
Transcript: ENSMUST00000062045
AA Change: K218E
SMART Domains Protein: ENSMUSP00000057308
Gene: ENSMUSG00000051627
AA Change: K218E

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

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
Meta Mutation Damage Score 0.3345 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (38/38)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,069,655 (GRCm39) K1554* probably null Het
Acads T C 5: 115,255,757 (GRCm39) H26R probably benign Het
Acer1 G A 17: 57,265,406 (GRCm39) T141I probably damaging Het
Adam15 C G 3: 89,254,764 (GRCm39) V99L probably benign Het
Ankrd13b A G 11: 77,368,331 (GRCm39) V97A possibly damaging Het
Anpep T C 7: 79,491,720 (GRCm39) T94A probably benign Het
Atp1a3 T C 7: 24,694,119 (GRCm39) N345S probably damaging Het
Btn1a1 T A 13: 23,645,721 (GRCm39) N216I possibly damaging Het
Cacna1s G A 1: 136,002,831 (GRCm39) W62* probably null Het
Ccdc141 C T 2: 76,869,830 (GRCm39) V892I probably benign Het
Ccdc180 T A 4: 45,900,470 (GRCm39) I278K possibly damaging Het
Cdc7 T G 5: 107,122,564 (GRCm39) probably null Het
Cpb1 C T 3: 20,319,521 (GRCm39) V188M probably damaging Het
Dock5 A G 14: 68,095,371 (GRCm39) I101T possibly damaging Het
Dqx1 T C 6: 83,035,953 (GRCm39) V95A probably damaging Het
Dvl1 T A 4: 155,938,123 (GRCm39) D90E probably damaging Het
Fam135b T C 15: 71,335,879 (GRCm39) I438M probably benign Het
Fpr1 A T 17: 18,096,897 (GRCm39) M364K probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Gpx7 C A 4: 108,260,470 (GRCm39) V109F probably damaging Het
Grhl2 T C 15: 37,336,591 (GRCm39) probably null Het
Grn A G 11: 102,324,069 (GRCm39) T53A probably benign Het
H2-T9 T C 17: 36,440,038 (GRCm39) Y32C probably damaging Het
Hmgxb3 T C 18: 61,280,454 (GRCm39) N683S probably damaging Het
Iigp1 T C 18: 60,523,983 (GRCm39) I367T probably benign Het
Itfg2 T C 6: 128,388,632 (GRCm39) E285G probably damaging Het
Itgav T A 2: 83,622,915 (GRCm39) C662* probably null Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Lipe T C 7: 25,097,848 (GRCm39) T32A probably benign Het
Lrrk2 A G 15: 91,698,898 (GRCm39) Y2475C probably benign Het
Mcc T C 18: 44,582,330 (GRCm39) D607G probably damaging Het
Mip T A 10: 128,061,875 (GRCm39) L42* probably null Het
Mlc1 A T 15: 88,850,199 (GRCm39) D192E probably benign Het
Muc2 T C 7: 141,299,225 (GRCm39) probably benign Het
Mybl1 T C 1: 9,752,095 (GRCm39) D260G probably damaging Het
Ncln C T 10: 81,323,519 (GRCm39) V51I probably benign Het
Nlrp9a T C 7: 26,257,297 (GRCm39) V305A probably benign Het
Nodal G A 10: 61,260,276 (GRCm39) R309Q possibly damaging Het
Olr1 T C 6: 129,476,881 (GRCm39) N128S possibly damaging Het
Or10ak14 A T 4: 118,611,421 (GRCm39) F105I probably damaging Het
Or12j5 A G 7: 140,083,832 (GRCm39) I180T probably damaging Het
Or14a256 T C 7: 86,264,884 (GRCm39) Y323C probably benign Het
Orc1 T A 4: 108,461,757 (GRCm39) C585S probably benign Het
Pcmtd2 A T 2: 181,496,922 (GRCm39) I300F probably damaging Het
Pfkfb4 C T 9: 108,854,110 (GRCm39) probably benign Het
Phactr3 T A 2: 177,920,810 (GRCm39) L180Q possibly damaging Het
Pigo T C 4: 43,021,083 (GRCm39) T612A probably benign Het
Plch1 T A 3: 63,616,952 (GRCm39) D766V probably damaging Het
Plekhh3 T C 11: 101,054,973 (GRCm39) probably benign Het
Potefam1 T G 2: 111,058,399 (GRCm39) L131F probably damaging Het
Ppp1r12b T A 1: 134,800,570 (GRCm39) T547S probably damaging Het
Prkcb T A 7: 122,116,079 (GRCm39) M186K probably damaging Het
Prpf3 A T 3: 95,757,112 (GRCm39) probably benign Het
Psg23 T C 7: 18,344,369 (GRCm39) D362G possibly damaging Het
Reg3a T C 6: 78,358,114 (GRCm39) L15P probably damaging Het
Scrib A T 15: 75,941,223 (GRCm39) I5N probably damaging Het
Speg C T 1: 75,399,326 (GRCm39) Q2005* probably null Het
Sppl3 A T 5: 115,212,923 (GRCm39) S51C possibly damaging Het
Sspo A G 6: 48,434,534 (GRCm39) T1009A probably damaging Het
Syce1l A G 8: 114,381,579 (GRCm39) Q164R probably benign Het
Sympk T C 7: 18,768,409 (GRCm39) V126A possibly damaging Het
Tas2r110 T A 6: 132,844,987 (GRCm39) I6K unknown Het
Tas2r120 A T 6: 132,634,731 (GRCm39) H271L probably damaging Het
Tlcd3a A G 11: 76,093,057 (GRCm39) D33G probably benign Het
Tnn T A 1: 159,943,856 (GRCm39) T986S possibly damaging Het
Trim5 T C 7: 103,928,845 (GRCm39) H32R probably damaging Het
Ttc13 A G 8: 125,410,573 (GRCm39) I360T possibly damaging Het
Uaca A G 9: 60,778,781 (GRCm39) E1054G probably damaging Het
Usp16 T A 16: 87,268,736 (GRCm39) probably null Het
Wee1 T A 7: 109,730,043 (GRCm39) S382R probably damaging Het
Wnt11 T C 7: 98,495,771 (GRCm39) S92P probably damaging Het
Zfp1004 C G 2: 150,034,141 (GRCm39) P185R probably damaging Het
Zfp786 A G 6: 47,797,160 (GRCm39) C593R probably damaging Het
Zfp879 T G 11: 50,723,989 (GRCm39) I283L possibly damaging Het
Other mutations in H1f4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00777:H1f4 APN 13 23,806,005 (GRCm39) unclassified probably benign
IGL03354:H1f4 APN 13 23,806,060 (GRCm39) unclassified probably benign
PIT4469001:H1f4 UTSW 13 23,806,362 (GRCm39) missense probably damaging 1.00
R2339:H1f4 UTSW 13 23,805,943 (GRCm39) unclassified probably benign
R3110:H1f4 UTSW 13 23,805,829 (GRCm39) unclassified probably benign
R3757:H1f4 UTSW 13 23,806,240 (GRCm39) nonsense probably null
R3758:H1f4 UTSW 13 23,806,240 (GRCm39) nonsense probably null
R5116:H1f4 UTSW 13 23,806,270 (GRCm39) missense probably damaging 1.00
R6034:H1f4 UTSW 13 23,806,296 (GRCm39) missense probably damaging 1.00
R6034:H1f4 UTSW 13 23,806,296 (GRCm39) missense probably damaging 1.00
R7008:H1f4 UTSW 13 23,806,192 (GRCm39) missense probably damaging 1.00
R7051:H1f4 UTSW 13 23,806,422 (GRCm39) missense probably benign 0.00
R7317:H1f4 UTSW 13 23,806,350 (GRCm39) missense probably damaging 1.00
R8220:H1f4 UTSW 13 23,805,922 (GRCm39) missense probably benign 0.23
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-02-05