Incidental Mutation 'PIT4377001:H4c12'
ID 554946
Institutional Source Beutler Lab
Gene Symbol H4c12
Ensembl Gene ENSMUSG00000064288
Gene Name H4 clustered histone 12
Synonyms Hist1h4k
Accession Numbers
Essential gene? Probably non essential (E-score: 0.192) question?
Stock # PIT4377001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 21934364-21934675 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 21934654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 8 (G8R)
Ref Sequence ENSEMBL: ENSMUSP00000100048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074752] [ENSMUST00000091709] [ENSMUST00000102983]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000074752
SMART Domains Protein: ENSMUSP00000074310
Gene: ENSMUSG00000063021

DomainStartEndE-ValueType
H2A 3 123 1.22e-80 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000091709
SMART Domains Protein: ENSMUSP00000089301
Gene: ENSMUSG00000095217

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
H2B 28 124 4.64e-72 SMART
Predicted Effect unknown
Transcript: ENSMUST00000102983
AA Change: G8R
SMART Domains Protein: ENSMUSP00000100048
Gene: ENSMUSG00000064288
AA Change: G8R

DomainStartEndE-ValueType
H4 16 90 2.59e-29 SMART
Coding Region Coverage
  • 1x: 92.9%
  • 3x: 90.8%
  • 10x: 85.9%
  • 20x: 75.6%
Validation Efficiency
MGI Phenotype FUNCTION: Histones are basic nuclear proteins that are responsible for the 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 H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik T C 4: 39,451,129 (GRCm39) C112R possibly damaging Het
Acadl G A 1: 66,877,564 (GRCm39) T329M probably damaging Het
Adgrv1 A G 13: 81,677,104 (GRCm39) L1909P probably damaging Het
Aff3 A C 1: 38,578,044 (GRCm39) V31G probably damaging Het
Bag3 A G 7: 128,147,441 (GRCm39) D352G probably damaging Het
Bcas3 A T 11: 85,386,668 (GRCm39) T368S probably damaging Het
Bmp3 A G 5: 99,027,608 (GRCm39) I434V unknown Het
Casq1 T A 1: 172,039,568 (GRCm39) T336S probably benign Het
Cib2 T G 9: 54,467,271 (GRCm39) E11A probably damaging Het
Cttn C A 7: 143,993,833 (GRCm39) E393D possibly damaging Het
Dchs1 G A 7: 105,406,795 (GRCm39) R2237W probably damaging Het
Dclre1a C T 19: 56,532,837 (GRCm39) A586T probably benign Het
Defb1 C A 8: 22,266,716 (GRCm39) Q17K possibly damaging Het
Dgat2 T C 7: 98,806,342 (GRCm39) Y285C probably damaging Het
Dhx57 A T 17: 80,571,404 (GRCm39) F732Y probably damaging Het
Dock2 T G 11: 34,611,835 (GRCm39) D176A probably benign Het
Epha6 A G 16: 60,025,915 (GRCm39) I509T probably damaging Het
Fblim1 C T 4: 141,322,720 (GRCm39) R21H probably damaging Het
Fbxw20 T A 9: 109,050,795 (GRCm39) H371L probably benign Het
Foxa1 T A 12: 57,589,567 (GRCm39) I218F probably damaging Het
Fstl1 A T 16: 37,636,167 (GRCm39) I53F probably benign Het
Gdnf A G 15: 7,864,011 (GRCm39) R141G probably benign Het
Gemin7 G A 7: 19,299,242 (GRCm39) R118* probably null Het
Gm43218 T C 6: 70,217,565 (GRCm39) T64A probably benign Het
Gnat3 G A 5: 18,220,557 (GRCm39) M243I Het
Gramd1a A T 7: 30,843,095 (GRCm39) I71N possibly damaging Het
Htt A T 5: 35,033,309 (GRCm39) D1859V probably benign Het
Hyal1 T C 9: 107,456,468 (GRCm39) F415S probably damaging Het
Ighv1-47 T C 12: 114,954,858 (GRCm39) N74S probably benign Het
Igkv1-131 T C 6: 67,743,192 (GRCm39) R64G probably benign Het
Itgb1 T A 8: 129,436,864 (GRCm39) V95D probably damaging Het
Jak1 A C 4: 101,036,748 (GRCm39) N297K probably benign Het
Kcna4 T A 2: 107,127,205 (GRCm39) N646K possibly damaging Het
Krt42 A G 11: 100,153,931 (GRCm39) S442P probably damaging Het
Mcm3ap G A 10: 76,338,596 (GRCm39) S1408N possibly damaging Het
Mdga2 T A 12: 66,763,469 (GRCm39) Q278L probably damaging Het
Mkln1 C T 6: 31,451,289 (GRCm39) T410M probably damaging Het
Nav3 T C 10: 109,552,466 (GRCm39) E1792G probably damaging Het
Ndrg1 A G 15: 66,820,288 (GRCm39) C49R probably benign Het
Neurl4 A G 11: 69,801,232 (GRCm39) H1201R probably benign Het
Nfasc T C 1: 132,510,804 (GRCm39) Y1073C unknown Het
Nrbp2 A G 15: 75,958,945 (GRCm39) Y253H probably benign Het
Or10c1 T A 17: 37,521,980 (GRCm39) I255F probably benign Het
Or4g16 T A 2: 111,137,225 (GRCm39) V225D probably damaging Het
Or4k45 T C 2: 111,395,556 (GRCm39) T78A probably damaging Het
Pcsk5 A T 19: 17,416,466 (GRCm39) C1661S probably damaging Het
Qsox2 T G 2: 26,110,924 (GRCm39) D147A probably damaging Het
Siglec15 T A 18: 78,100,590 (GRCm39) probably benign Het
Skint5 T A 4: 113,454,900 (GRCm39) T1011S unknown Het
Slc9a2 A G 1: 40,783,001 (GRCm39) T422A probably damaging Het
Tert C T 13: 73,776,380 (GRCm39) T377I possibly damaging Het
Tex15 T A 8: 34,061,129 (GRCm39) S186R probably damaging Het
Tgfb1 A G 7: 25,396,343 (GRCm39) D212G probably benign Het
Tnc T G 4: 63,935,973 (GRCm39) D321A probably damaging Het
Topbp1 G A 9: 103,187,088 (GRCm39) E98K possibly damaging Het
Ugp2 C A 11: 21,320,203 (GRCm39) M1I probably null Het
Vipr2 G A 12: 116,058,418 (GRCm39) D112N probably benign Het
Vps13a T C 19: 16,718,265 (GRCm39) E485G probably damaging Het
Vps37a T A 8: 40,990,087 (GRCm39) I198N possibly damaging Het
Zbtb9 T C 17: 27,193,735 (GRCm39) V380A probably damaging Het
Zfhx4 G C 3: 5,307,802 (GRCm39) V343L probably damaging Het
Other mutations in H4c12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1931:H4c12 UTSW 13 21,934,682 (GRCm39) splice site probably null
R4032:H4c12 UTSW 13 21,934,588 (GRCm39) missense possibly damaging 0.58
R4445:H4c12 UTSW 13 21,934,513 (GRCm39) missense possibly damaging 0.64
R6699:H4c12 UTSW 13 21,934,674 (GRCm39) start codon destroyed probably null
R6838:H4c12 UTSW 13 21,934,375 (GRCm39) missense probably damaging 0.96
R9237:H4c12 UTSW 13 21,934,534 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTCCAGGAACACCTTCAGC -3'
(R):5'- GAGGAGCTAGTTCCCTCAGAAAG -3'

Sequencing Primer
(F):5'- GGAACACCTTCAGCACACCG -3'
(R):5'- TAGTTCCCTCAGAAAGCTCGG -3'
Posted On 2019-06-07