Incidental Mutation 'R7406:H2bc4'
ID 574759
Institutional Source Beutler Lab
Gene Symbol H2bc4
Ensembl Gene ENSMUSG00000018102
Gene Name H2B clustered histone 4
Synonyms 2610022J01Rik, H2bfs, Hist1h2bc
MMRRC Submission 045487-MU
Accession Numbers
Essential gene? Not available question?
Stock # R7406 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 23868182-23876805 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23868342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 43 (Y43C)
Ref Sequence ENSEMBL: ENSMUSP00000018246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018246] [ENSMUST00000171127]
AlphaFold Q6ZWY9
Predicted Effect probably damaging
Transcript: ENSMUST00000018246
AA Change: Y43C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018246
Gene: ENSMUSG00000018102
AA Change: Y43C

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
H2B 28 124 1.43e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171127
SMART Domains Protein: ENSMUSP00000127684
Gene: ENSMUSG00000069270

DomainStartEndE-ValueType
H2A 3 123 8.07e-81 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (60/61)
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 encodes a replication-dependent histone that is a member of the histone H2B family and generates two transcripts through the use of the conserved stem-loop termination motif, and the polyA addition motif. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810459M11Rik T C 1: 85,974,231 (GRCm39) S183P possibly damaging Het
2900092C05Rik A G 7: 12,249,391 (GRCm39) T75A possibly damaging Het
Abhd8 A G 8: 71,914,406 (GRCm39) V74A probably benign Het
Agrn A C 4: 156,256,758 (GRCm39) S1282R possibly damaging Het
Atf5 T C 7: 44,462,380 (GRCm39) N248S possibly damaging Het
Atp2a3 A G 11: 72,869,576 (GRCm39) Y497C probably damaging Het
Bpifa2 T G 2: 153,851,739 (GRCm39) S58R probably benign Het
Cacna1h C T 17: 25,604,600 (GRCm39) E1238K possibly damaging Het
Ccdc71 T A 9: 108,340,523 (GRCm39) L112* probably null Het
Cd300e A T 11: 114,946,128 (GRCm39) I111N probably damaging Het
Cdkl3 A T 11: 51,924,369 (GRCm39) E552D probably benign Het
Chst5 A G 8: 112,617,245 (GRCm39) V125A probably benign Het
Clock A T 5: 76,414,692 (GRCm39) M1K probably null Het
Cops7b T A 1: 86,528,852 (GRCm39) L193Q probably benign Het
Csmd1 T C 8: 16,338,707 (GRCm39) T467A probably damaging Het
Ctr9 A G 7: 110,652,615 (GRCm39) E971G unknown Het
Dcp2 A G 18: 44,543,254 (GRCm39) T271A probably benign Het
Dsp A G 13: 38,381,172 (GRCm39) N2639S possibly damaging Het
Fhip1a T C 3: 85,637,784 (GRCm39) I172V probably benign Het
Gm11168 C G 9: 3,006,912 (GRCm39) C212W probably benign Het
Gpr179 G T 11: 97,242,420 (GRCm39) D141E probably damaging Het
Hdhd2 C T 18: 77,031,811 (GRCm39) T89M probably benign Het
Krt6b T G 15: 101,587,513 (GRCm39) T194P probably benign Het
Lrp1b T C 2: 41,266,030 (GRCm39) probably null Het
Maneal A T 4: 124,754,161 (GRCm39) I214N possibly damaging Het
Map1lc3b T A 8: 122,317,355 (GRCm39) C11S unknown Het
Mapt G A 11: 104,213,350 (GRCm39) G296E possibly damaging Het
Mgam A G 6: 40,640,459 (GRCm39) N509S probably benign Het
Mrgprx1 T A 7: 47,671,733 (GRCm39) I5F possibly damaging Het
Mroh5 T C 15: 73,659,583 (GRCm39) D416G probably benign Het
Ncan T G 8: 70,562,749 (GRCm39) D503A probably benign Het
Nedd1 A T 10: 92,547,185 (GRCm39) probably null Het
Ogdh A G 11: 6,298,351 (GRCm39) T641A probably benign Het
Or2b6 T C 13: 21,823,316 (GRCm39) I126V probably benign Het
Or4k2 T A 14: 50,424,015 (GRCm39) I221F probably damaging Het
Or6c219 A T 10: 129,781,435 (GRCm39) D50E probably benign Het
Or8b1b T A 9: 38,375,439 (GRCm39) M34K possibly damaging Het
Pcdhga8 A C 18: 37,859,238 (GRCm39) Q98P possibly damaging Het
Pik3c2a A G 7: 115,953,242 (GRCm39) Y1218H probably damaging Het
Ppp3cc A T 14: 70,483,387 (GRCm39) S229T possibly damaging Het
Prss43 T G 9: 110,657,764 (GRCm39) I221S probably damaging Het
Rasal1 A T 5: 120,801,002 (GRCm39) T221S probably benign Het
Serpinb9f G T 13: 33,518,543 (GRCm39) E348* probably null Het
Sfxn5 A G 6: 85,244,889 (GRCm39) Y169H probably damaging Het
Skint9 T C 4: 112,246,428 (GRCm39) N228S probably benign Het
Slx4ip A T 2: 136,842,162 (GRCm39) D29V probably damaging Het
Snx29 G T 16: 11,573,180 (GRCm39) G474V probably damaging Het
Spata6 T A 4: 111,638,017 (GRCm39) D282E possibly damaging Het
Srek1 A T 13: 103,905,890 (GRCm39) V77E probably damaging Het
Timd6 A G 11: 46,468,285 (GRCm39) T120A possibly damaging Het
Tmt1a3 T C 15: 100,233,289 (GRCm39) V160A probably benign Het
Tnfrsf22 T C 7: 143,194,564 (GRCm39) D121G probably damaging Het
Ucma G A 2: 4,990,170 (GRCm39) W122* probably null Het
Vmn2r124 T C 17: 18,282,306 (GRCm39) M113T unknown Het
Vmn2r54 A T 7: 12,350,150 (GRCm39) probably null Het
Vmn2r8 A G 5: 108,948,442 (GRCm39) L482S probably benign Het
Vwa3a T A 7: 120,378,138 (GRCm39) I476N probably damaging Het
Vwa8 A C 14: 79,219,674 (GRCm39) probably null Het
Wdr26 A T 1: 181,015,240 (GRCm39) S390R probably damaging Het
Zbtb40 A T 4: 136,728,205 (GRCm39) S471T probably benign Het
Other mutations in H2bc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4418:H2bc4 UTSW 13 23,868,486 (GRCm39) missense probably damaging 1.00
R6784:H2bc4 UTSW 13 23,868,483 (GRCm39) missense probably damaging 0.98
R8797:H2bc4 UTSW 13 23,868,552 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCTTCATTAGCATAAACGCCC -3'
(R):5'- AGGATCACTTGGAGCTGGTG -3'

Sequencing Primer
(F):5'- TAGCATAAACGCCCTATAAGTAGG -3'
(R):5'- TTGGTGCCCTCCGACAC -3'
Posted On 2019-10-07