Incidental Mutation 'R5077:H4c16'
ID 401934
Institutional Source Beutler Lab
Gene Symbol H4c16
Ensembl Gene ENSMUSG00000096010
Gene Name H4 histone 16
Synonyms H4-16, H4f16, B130044J01Rik, Hist4h4
MMRRC Submission 042666-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R5077 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 136780991-136781429 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 136781113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 89 (Y89H)
Ref Sequence ENSEMBL: ENSMUSP00000136357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074556] [ENSMUST00000179285] [ENSMUST00000203982]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000074556
SMART Domains Protein: ENSMUSP00000074142
Gene: ENSMUSG00000060032

DomainStartEndE-ValueType
H2A 3 123 2.32e-81 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000179285
AA Change: Y89H

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000136357
Gene: ENSMUSG00000096010
AA Change: Y89H

DomainStartEndE-ValueType
H4 16 90 2.59e-29 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198368
Predicted Effect probably benign
Transcript: ENSMUST00000203982
SMART Domains Protein: ENSMUSP00000144974
Gene: ENSMUSG00000060032

DomainStartEndE-ValueType
H2A 3 123 9.8e-84 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204833
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 93% (51/55)
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-dependent histone that is a member of the histone H4 family. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l A G 8: 44,080,200 (GRCm39) V8A possibly damaging Het
Agbl4 A T 4: 111,423,939 (GRCm39) M322L probably benign Het
Ankrd55 A G 13: 112,492,522 (GRCm39) K231R probably benign Het
Asap1 A C 15: 63,999,272 (GRCm39) M534R probably damaging Het
B4galnt2 T A 11: 95,767,140 (GRCm39) probably benign Het
Cacna1e A T 1: 154,437,475 (GRCm39) probably null Het
Cacna1h T C 17: 25,594,224 (GRCm39) I2311M probably benign Het
Capn2 G T 1: 182,300,138 (GRCm39) D617E possibly damaging Het
Catsper1 A G 19: 5,385,998 (GRCm39) D77G probably damaging Het
Cdc42bpa A T 1: 179,922,098 (GRCm39) probably benign Het
Cdca8 T C 4: 124,820,470 (GRCm39) K109E probably damaging Het
Dbx1 A G 7: 49,283,242 (GRCm39) S223P probably damaging Het
Dlg4 A G 11: 69,917,852 (GRCm39) N45S possibly damaging Het
Dlgap2 T G 8: 14,872,691 (GRCm39) V723G probably benign Het
Efl1 C A 7: 82,307,295 (GRCm39) Q64K probably damaging Het
Eml1 T A 12: 108,472,871 (GRCm39) probably benign Het
Fbxw16 A G 9: 109,270,117 (GRCm39) probably null Het
Gm10800 A T 2: 98,497,379 (GRCm39) L80M probably benign Het
Insig2 A T 1: 121,239,964 (GRCm39) V112E probably damaging Het
Kcnip3 A G 2: 127,307,797 (GRCm39) S123P probably damaging Het
Map3k9 T C 12: 81,780,851 (GRCm39) probably null Het
Myo16 T C 8: 10,372,658 (GRCm39) V119A probably damaging Het
Naa25 G A 5: 121,562,639 (GRCm39) V474M probably benign Het
Nckap1 A T 2: 80,379,277 (GRCm39) V219E probably damaging Het
Niban1 A G 1: 151,590,274 (GRCm39) I523V probably benign Het
Nrp1 G T 8: 129,227,154 (GRCm39) probably null Het
Nsun4 A T 4: 115,905,781 (GRCm39) D58E probably benign Het
Obscn G T 11: 58,934,883 (GRCm39) A5249D probably damaging Het
Or8k53 A T 2: 86,177,683 (GRCm39) H142Q probably benign Het
Osmr A T 15: 6,873,874 (GRCm39) Y174* probably null Het
Pi4k2a T C 19: 42,108,275 (GRCm39) probably null Het
Pram1 C T 17: 33,863,878 (GRCm39) Q572* probably null Het
Prdm5 C A 6: 65,756,158 (GRCm39) T25K probably damaging Het
Psen1 T C 12: 83,771,439 (GRCm39) Y240H probably damaging Het
Pygl C T 12: 70,248,666 (GRCm39) G318S probably benign Het
Rbck1 A C 2: 152,160,371 (GRCm39) M436R probably benign Het
Resf1 T G 6: 149,227,528 (GRCm39) S191R probably benign Het
Rmnd1 T C 10: 4,377,488 (GRCm39) N64D possibly damaging Het
Rsph4a A G 10: 33,784,275 (GRCm39) D299G probably damaging Het
Sema4c T C 1: 36,590,812 (GRCm39) S480G probably benign Het
Srp68 T C 11: 116,136,638 (GRCm39) D552G probably damaging Het
Syde2 G T 3: 145,707,764 (GRCm39) A568S probably damaging Het
Szrd1 G T 4: 140,867,092 (GRCm39) probably null Het
Szt2 A T 4: 118,226,813 (GRCm39) probably null Het
Tbc1d31 A G 15: 57,818,797 (GRCm39) E800G probably benign Het
Tmprss11d C A 5: 86,457,122 (GRCm39) probably null Het
Usp37 A G 1: 74,480,720 (GRCm39) V895A probably damaging Het
Vmn1r19 T C 6: 57,382,026 (GRCm39) I193T probably benign Het
Vmn2r102 T C 17: 19,897,834 (GRCm39) V283A probably benign Het
Vps13d C T 4: 144,814,811 (GRCm39) G3180D probably damaging Het
Xirp2 A C 2: 67,344,821 (GRCm39) D2354A probably benign Het
Zc3h14 T A 12: 98,723,465 (GRCm39) probably null Het
Other mutations in H4c16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02567:H4c16 APN 6 136,781,272 (GRCm39) missense probably damaging 0.97
IGL02625:H4c16 APN 6 136,781,335 (GRCm39) unclassified probably benign
R2044:H4c16 UTSW 6 136,781,101 (GRCm39) missense possibly damaging 0.73
R2276:H4c16 UTSW 6 136,781,299 (GRCm39) missense probably damaging 1.00
R5868:H4c16 UTSW 6 136,781,292 (GRCm39) missense probably damaging 1.00
R7774:H4c16 UTSW 6 136,781,281 (GRCm39) missense possibly damaging 0.93
R8076:H4c16 UTSW 6 136,781,124 (GRCm39) missense probably benign 0.15
Predicted Primers PCR Primer
(F):5'- GCAGCTCAATTTGCATACAAGAC -3'
(R):5'- ATTACCAAGCCCGCTATCCG -3'

Sequencing Primer
(F):5'- GCTCAATTTGCATACAAGACAAAGC -3'
(R):5'- TATCCGGCGGTTGGCTC -3'
Posted On 2016-07-22