Incidental Mutation 'R6118:H2bc18'
ID 485198
Institutional Source Beutler Lab
Gene Symbol H2bc18
Ensembl Gene ENSMUSG00000105827
Gene Name H2B clustered histone 18
Synonyms H2b-616, Hist2h2bb
MMRRC Submission 044267-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.518) question?
Stock # R6118 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 96177068-96177448 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 96177267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 67 (V67E)
Ref Sequence ENSEMBL: ENSMUSP00000135427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098843] [ENSMUST00000177113]
AlphaFold Q64525
Predicted Effect noncoding transcript
Transcript: ENSMUST00000051089
SMART Domains Protein: ENSMUSP00000059105
Gene: ENSMUSG00000050936

DomainStartEndE-ValueType
H2B 28 112 1.48e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000098843
SMART Domains Protein: ENSMUSP00000096442
Gene: ENSMUSG00000074403

DomainStartEndE-ValueType
H3 34 136 2.12e-75 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000177113
AA Change: V67E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135427
Gene: ENSMUSG00000105827
AA Change: V67E

DomainStartEndE-ValueType
H2B 28 124 1.43e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177363
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193036
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 93.1%
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 encodes a replication-dependent histone that is a member of the histone H2B family. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T G 10: 10,307,035 (GRCm39) K316N probably damaging Het
Als2 A T 1: 59,242,228 (GRCm39) V609E possibly damaging Het
Ank3 A G 10: 69,830,231 (GRCm39) I71V probably damaging Het
Antxr2 T A 5: 98,097,060 (GRCm39) D351V probably damaging Het
Arel1 A G 12: 84,988,713 (GRCm39) V12A possibly damaging Het
Atad1 C T 19: 32,664,697 (GRCm39) R239H possibly damaging Het
B3galnt2 A G 13: 14,166,094 (GRCm39) T330A probably damaging Het
Bag6 T A 17: 35,362,600 (GRCm39) I636N probably damaging Het
C1qtnf6 T C 15: 78,409,595 (GRCm39) D84G probably damaging Het
Ceacam20 T C 7: 19,705,654 (GRCm39) V215A possibly damaging Het
Chtf18 C T 17: 25,938,133 (GRCm39) D967N probably damaging Het
Cntnap2 T A 6: 47,170,011 (GRCm39) I1159K possibly damaging Het
Col2a1 T C 15: 97,896,448 (GRCm39) D67G unknown Het
Csde1 T A 3: 102,962,070 (GRCm39) V627E probably benign Het
Epb41l1 G A 2: 156,364,397 (GRCm39) E969K probably benign Het
Fam53c A C 18: 34,901,743 (GRCm39) E220A probably damaging Het
Gabbr2 C T 4: 46,736,459 (GRCm39) R474Q probably damaging Het
Hap1 G T 11: 100,246,620 (GRCm39) T95N probably benign Het
Jmjd1c A G 10: 67,075,791 (GRCm39) K1886R probably damaging Het
Kndc1 A G 7: 139,503,717 (GRCm39) D1007G probably damaging Het
Mcm2 C T 6: 88,864,818 (GRCm39) A553T probably damaging Het
Memo1 T C 17: 74,509,302 (GRCm39) Y239C possibly damaging Het
Meox2 GCACCACCACCACCACCACCA GCACCACCACCACCACCA 12: 37,159,030 (GRCm39) probably benign Het
Mptx2 G A 1: 173,102,414 (GRCm39) L92F probably benign Het
Obsl1 A G 1: 75,468,722 (GRCm39) probably benign Het
Or4c107 T A 2: 88,789,462 (GRCm39) Y217* probably null Het
Or8k35 T A 2: 86,424,758 (GRCm39) H138L probably benign Het
Pold3 A G 7: 99,745,614 (GRCm39) S180P possibly damaging Het
Rbm12b2 T C 4: 12,095,135 (GRCm39) S665P probably benign Het
Rfc4 A T 16: 22,939,693 (GRCm39) S86T probably damaging Het
Rfx6 T A 10: 51,587,962 (GRCm39) N277K possibly damaging Het
Ryr2 C A 13: 11,807,575 (GRCm39) V865F possibly damaging Het
Skint4 T A 4: 111,977,019 (GRCm39) probably null Het
Slc38a10 T C 11: 120,023,669 (GRCm39) Y249C probably damaging Het
Slco1b2 A G 6: 141,603,236 (GRCm39) T206A probably benign Het
Slco3a1 C T 7: 73,968,254 (GRCm39) D489N probably benign Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Tbc1d1 C T 5: 64,441,380 (GRCm39) L655F probably damaging Het
Tpp2 A T 1: 43,979,306 (GRCm39) I68F probably damaging Het
Trim30c G T 7: 104,031,288 (GRCm39) T509K probably benign Het
Zfp827 G T 8: 79,803,067 (GRCm39) K546N possibly damaging Het
Other mutations in H2bc18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01474:H2bc18 APN 3 96,177,125 (GRCm39) unclassified probably benign
R0357:H2bc18 UTSW 3 96,177,104 (GRCm39) missense probably null 0.04
R0882:H2bc18 UTSW 3 96,177,060 (GRCm39) splice site probably null
R0976:H2bc18 UTSW 3 96,177,402 (GRCm39) missense probably benign 0.19
R1473:H2bc18 UTSW 3 96,177,388 (GRCm39) missense probably damaging 1.00
R1507:H2bc18 UTSW 3 96,177,189 (GRCm39) missense probably damaging 1.00
R4503:H2bc18 UTSW 3 96,177,240 (GRCm39) missense possibly damaging 0.84
R4751:H2bc18 UTSW 3 96,176,467 (GRCm39) unclassified probably benign
R4808:H2bc18 UTSW 3 96,177,329 (GRCm39) missense probably benign 0.00
R6585:H2bc18 UTSW 3 96,177,413 (GRCm39) missense probably benign 0.17
R7527:H2bc18 UTSW 3 96,177,186 (GRCm39) missense possibly damaging 0.94
R9093:H2bc18 UTSW 3 96,177,290 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- AAATGCCGGATCCAGCGAAG -3'
(R):5'- AATCACGTCTCTGCTGCAC -3'

Sequencing Primer
(F):5'- ATCCAGCGAAGTCTGCTCCTG -3'
(R):5'- CACTTCACTTGGAGCTGGTGTAC -3'
Posted On 2017-08-16