Incidental Mutation 'R4418:H2bc4'
ID 326961
Institutional Source Beutler Lab
Gene Symbol H2bc4
Ensembl Gene ENSMUSG00000018102
Gene Name H2B clustered histone 4
Synonyms 2610022J01Rik, H2bfs, Hist1h2bc
MMRRC Submission 041139-MU
Accession Numbers
Essential gene? Not available question?
Stock # R4418 (G1)
Quality Score 101
Status Not validated
Chromosome 13
Chromosomal Location 23868182-23876805 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 23868486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 91 (T91M)
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: T91M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000018246
Gene: ENSMUSG00000018102
AA Change: T91M

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
H2B 28 124 1.43e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157405
Predicted Effect probably benign
Transcript: ENSMUST00000171127
SMART Domains Protein: ENSMUSP00000127684
Gene: ENSMUSG00000069270

DomainStartEndE-ValueType
H2A 3 123 8.07e-81 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197197
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 95% (72/76)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik A G 1: 159,872,372 (GRCm39) noncoding transcript Het
Acot12 A G 13: 91,932,524 (GRCm39) T507A possibly damaging Het
Agap2 T G 10: 126,927,519 (GRCm39) C1113W probably damaging Het
Ap3s1-ps2 A T 8: 95,131,921 (GRCm39) noncoding transcript Het
B3gnt3 T C 8: 72,146,413 (GRCm39) R39G probably benign Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Cdcp3 A T 7: 130,849,194 (GRCm39) D899V possibly damaging Het
Chad C T 11: 94,458,663 (GRCm39) H271Y possibly damaging Het
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Col6a1 T A 10: 76,554,239 (GRCm39) K323* probably null Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dclre1c T C 2: 3,453,972 (GRCm39) F285S possibly damaging Het
Dctn2 T G 10: 127,114,234 (GRCm39) M360R probably benign Het
Dele1 T C 18: 38,394,340 (GRCm39) probably null Het
Dgka A T 10: 128,563,963 (GRCm39) L462Q probably damaging Het
Drg2 A C 11: 60,358,972 (GRCm39) K364T probably damaging Het
Dync1li1 T A 9: 114,535,238 (GRCm39) S167R probably damaging Het
Entrep1 T C 19: 23,956,799 (GRCm39) T365A probably benign Het
Fer A T 17: 64,336,286 (GRCm39) D554V possibly damaging Het
Fignl2 A G 15: 100,951,830 (GRCm39) S151P possibly damaging Het
Gbgt1 A G 2: 28,388,420 (GRCm39) Y35C probably damaging Het
Gm6526 T A 14: 43,986,302 (GRCm39) I79K probably damaging Het
Gpr6 T G 10: 40,946,604 (GRCm39) N326T probably damaging Het
Hcn4 C T 9: 58,751,178 (GRCm39) T268M probably benign Het
Hnf4g A G 3: 3,713,154 (GRCm39) M243V possibly damaging Het
Homer1 A G 13: 93,538,577 (GRCm39) E314G probably damaging Het
Hs6st1 T C 1: 36,143,108 (GRCm39) Y348H probably damaging Het
Ifitm6 A T 7: 140,595,984 (GRCm39) I103N probably damaging Het
Ipo5 T G 14: 121,181,305 (GRCm39) C944G possibly damaging Het
Kcnb1 C A 2: 166,947,595 (GRCm39) E418* probably null Het
Kcnk2 G A 1: 188,988,924 (GRCm39) R207C probably damaging Het
Kctd8 T C 5: 69,498,505 (GRCm39) E47G probably damaging Het
Klhdc2 C T 12: 69,354,371 (GRCm39) probably benign Het
Lrrc37 T C 11: 103,509,140 (GRCm39) probably benign Het
Mgat1 A G 11: 49,152,072 (GRCm39) Y185C probably damaging Het
Mmp25 T A 17: 23,863,044 (GRCm39) R122S probably damaging Het
Mrpl39 C A 16: 84,522,012 (GRCm39) probably null Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Nek1 T C 8: 61,559,898 (GRCm39) F1007S probably damaging Het
Neto1 T C 18: 86,422,981 (GRCm39) M146T probably benign Het
Opn1sw G A 6: 29,379,423 (GRCm39) R45* probably null Het
Osbpl5 A T 7: 143,263,552 (GRCm39) C98* probably null Het
Pacc1 T A 1: 191,080,629 (GRCm39) V283E probably damaging Het
Pcdhb7 C T 18: 37,476,535 (GRCm39) A557V probably benign Het
Pecam1 A G 11: 106,586,748 (GRCm39) F155L possibly damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pmfbp1 C A 8: 110,257,265 (GRCm39) Q609K probably benign Het
Pnpo A T 11: 96,831,795 (GRCm39) probably null Het
Ppp2cb G A 8: 34,107,077 (GRCm39) R254Q probably benign Het
Qser1 A T 2: 104,619,766 (GRCm39) S349T probably damaging Het
Rnf167 T A 11: 70,538,743 (GRCm39) W17R probably damaging Het
Rpl21-ps4 A G 14: 11,227,879 (GRCm38) noncoding transcript Het
Rxfp2 A T 5: 149,972,265 (GRCm39) H158L probably benign Het
Ryr3 C T 2: 112,661,569 (GRCm39) C1807Y probably damaging Het
Scaper T A 9: 55,745,464 (GRCm39) E601D probably damaging Het
Secisbp2l A T 2: 125,594,835 (GRCm39) C542S probably benign Het
Slc6a19 A G 13: 73,832,514 (GRCm39) V393A possibly damaging Het
Stil A G 4: 114,866,574 (GRCm39) N176S probably benign Het
Tap1 T A 17: 34,407,353 (GRCm39) probably null Het
Tcl1b3 A T 12: 105,159,844 (GRCm39) Q105L probably damaging Het
Trappc10 G T 10: 78,053,022 (GRCm39) A251D probably damaging Het
Trim43a G T 9: 88,464,206 (GRCm39) C39F probably damaging Het
Ttn A T 2: 76,719,825 (GRCm39) probably benign Het
Vmn2r110 A T 17: 20,803,951 (GRCm39) L208* probably null Het
Vmn2r88 G T 14: 51,655,538 (GRCm39) L583F probably damaging Het
Wasf1 C T 10: 40,812,578 (GRCm39) H456Y unknown Het
Zfp120 A G 2: 149,960,105 (GRCm39) I73T possibly damaging Het
Zfp990 T C 4: 145,263,298 (GRCm39) C99R possibly damaging Het
Other mutations in H2bc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6784:H2bc4 UTSW 13 23,868,483 (GRCm39) missense probably damaging 0.98
R7406:H2bc4 UTSW 13 23,868,342 (GRCm39) missense probably damaging 1.00
R8797:H2bc4 UTSW 13 23,868,552 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGGAGAGCTACTCGGTGTAC -3'
(R):5'- AAGCACCTGTCATCTGCTTCTG -3'

Sequencing Primer
(F):5'- AGCTACTCGGTGTACGTGTACAAG -3'
(R):5'- CTGCTTCTGGGTAAAACTGAACGC -3'
Posted On 2015-07-07