Incidental Mutation 'R5650:H4c4'
ID 441386
Institutional Source Beutler Lab
Gene Symbol H4c4
Ensembl Gene ENSMUSG00000061482
Gene Name H4 clustered histone 4
Synonyms Hist1h4d
MMRRC Submission 043296-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # R5650 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 23765551-23765952 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 23765778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 65 (N65I)
Ref Sequence ENSEMBL: ENSMUSP00000100033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051091] [ENSMUST00000091704] [ENSMUST00000102968] [ENSMUST00000105105]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000051091
SMART Domains Protein: ENSMUSP00000061247
Gene: ENSMUSG00000047246

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
H2B 28 124 1.43e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000091704
SMART Domains Protein: ENSMUSP00000089296
Gene: ENSMUSG00000047246

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
H2B 28 124 1.43e-72 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000102968
AA Change: N65I

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000100033
Gene: ENSMUSG00000061482
AA Change: N65I

DomainStartEndE-ValueType
H4 16 90 2.59e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105105
SMART Domains Protein: ENSMUSP00000100737
Gene: ENSMUSG00000099583

DomainStartEndE-ValueType
H3 34 136 2.12e-75 SMART
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 96.0%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 T C 6: 85,597,253 (GRCm39) L693P probably damaging Het
Ankrd11 T C 8: 123,614,136 (GRCm39) T2524A probably damaging Het
Cdr2 A G 7: 120,557,559 (GRCm39) I322T probably damaging Het
Cep76 A T 18: 67,758,136 (GRCm39) C385S probably damaging Het
Cercam C T 2: 29,771,827 (GRCm39) S549F probably damaging Het
Coro1b C T 19: 4,200,610 (GRCm39) T209I possibly damaging Het
Dlec1 G T 9: 118,972,662 (GRCm39) E1462* probably null Het
Dlgap5 C T 14: 47,649,196 (GRCm39) G166D probably benign Het
Ep400 C T 5: 110,843,818 (GRCm39) probably null Het
Fam3d A T 14: 8,357,142 (GRCm38) V96E probably damaging Het
Fgr T G 4: 132,727,533 (GRCm39) V478G probably benign Het
Fmo9 T A 1: 166,491,015 (GRCm39) I437F probably damaging Het
Gabrd A T 4: 155,473,081 (GRCm39) V64E probably damaging Het
Gsap A G 5: 21,456,051 (GRCm39) Y385C probably damaging Het
Hat1 T C 2: 71,264,378 (GRCm39) V272A probably benign Het
Helz T A 11: 107,485,972 (GRCm39) M127K probably null Het
Hsp90b1 G A 10: 86,529,367 (GRCm39) A310V probably damaging Het
Hspa4 T C 11: 53,155,919 (GRCm39) Y662C probably damaging Het
Kif7 C T 7: 79,360,727 (GRCm39) R216H probably damaging Het
Klhl33 A G 14: 51,129,285 (GRCm39) I648T probably benign Het
Knl1 T A 2: 118,912,031 (GRCm39) L1716* probably null Het
Lgals9 T A 11: 78,863,980 (GRCm39) N55I probably damaging Het
Lmo7 A T 14: 102,136,110 (GRCm39) T606S probably damaging Het
Mdn1 A G 4: 32,667,467 (GRCm39) probably null Het
Mip A T 10: 128,061,934 (GRCm39) I62F possibly damaging Het
Naa35 G A 13: 59,770,680 (GRCm39) probably benign Het
Npepl1 T C 2: 173,963,329 (GRCm39) F454L possibly damaging Het
Or10h28 A T 17: 33,487,858 (GRCm39) E53D probably benign Het
Or1j21 T A 2: 36,683,277 (GRCm39) S10T probably benign Het
Or5ae1 T A 7: 84,565,626 (GRCm39) I213N possibly damaging Het
Or8b1b A T 9: 38,376,023 (GRCm39) K229* probably null Het
Oxct1 T A 15: 4,172,332 (GRCm39) V466D probably damaging Het
Piezo2 T A 18: 63,144,792 (GRCm39) I2768F probably damaging Het
Pitpnm1 C A 19: 4,153,319 (GRCm39) D158E possibly damaging Het
Plekho2 T C 9: 65,464,018 (GRCm39) N277S probably benign Het
Rab33b T C 3: 51,400,837 (GRCm39) Y104H probably damaging Het
Rpap1 T C 2: 119,604,331 (GRCm39) S473G probably benign Het
Serpina1b T A 12: 103,694,694 (GRCm39) probably null Het
Slc25a17 A T 15: 81,213,377 (GRCm39) probably null Het
Slc43a2 T C 11: 75,436,633 (GRCm39) C160R probably damaging Het
Slc7a4 G T 16: 17,393,548 (GRCm39) L84M possibly damaging Het
Slco1a4 T A 6: 141,755,120 (GRCm39) I561F possibly damaging Het
Sowahc GGGAGGAGGAGGAGGAGGAGGAGGAGGA GGGAGGAGGAGGAGGAGGAGGAGGA 10: 59,059,313 (GRCm39) probably benign Het
Specc1 T C 11: 62,008,793 (GRCm39) I183T probably damaging Het
Sucla2 A G 14: 73,828,569 (GRCm39) K362E probably benign Het
Tcf12 A T 9: 71,792,584 (GRCm39) probably null Het
Tlr11 C T 14: 50,598,658 (GRCm39) P215S probably benign Het
Tmem41b A G 7: 109,574,072 (GRCm39) S198P probably damaging Het
Tubgcp3 A G 8: 12,698,670 (GRCm39) F427S probably damaging Het
Wdr81 T A 11: 75,335,574 (GRCm39) S1752C probably damaging Het
Zbtb7a A G 10: 80,980,883 (GRCm39) Y359C probably damaging Het
Zfp37 T C 4: 62,110,002 (GRCm39) Y354C probably damaging Het
Zmpste24 T A 4: 120,940,074 (GRCm39) I191F possibly damaging Het
Other mutations in H4c4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2318:H4c4 UTSW 13 23,765,739 (GRCm39) missense probably damaging 1.00
R5558:H4c4 UTSW 13 23,765,779 (GRCm39) missense possibly damaging 0.92
R5753:H4c4 UTSW 13 23,765,587 (GRCm39) start codon destroyed probably null
Predicted Primers PCR Primer
(F):5'- GTTTGCTAACATGTCTGGACGC -3'
(R):5'- GCAGCTCCTTTAAGTGAGAAGG -3'

Sequencing Primer
(F):5'- CATGTCTGGACGCGGGAAAG -3'
(R):5'- CCTTTAAGTGAGAAGGTAGTGGCCC -3'
Posted On 2016-11-08