Incidental Mutation 'R4439:H3c2'
ID 329689
Institutional Source Beutler Lab
Gene Symbol H3c2
Ensembl Gene ENSMUSG00000069267
Gene Name H3 clustered histone 2
Synonyms H3-53, Hist1h3b
MMRRC Submission 041704-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4439 (G1)
Quality Score 193
Status Validated
Chromosome 13
Chromosomal Location 23936328-23936823 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 23936708 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000100030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078369] [ENSMUST00000091703] [ENSMUST00000102965]
AlphaFold P84228
Predicted Effect probably benign
Transcript: ENSMUST00000078369
SMART Domains Protein: ENSMUSP00000077477
Gene: ENSMUSG00000061615

DomainStartEndE-ValueType
H2A 3 123 8.07e-81 SMART
Predicted Effect probably null
Transcript: ENSMUST00000091703
AA Change: K116*
SMART Domains Protein: ENSMUSP00000089295
Gene: ENSMUSG00000069267
AA Change: K116*

DomainStartEndE-ValueType
H3 34 136 2.12e-75 SMART
Predicted Effect probably null
Transcript: ENSMUST00000102965
SMART Domains Protein: ENSMUSP00000100030
Gene: ENSMUSG00000069266

DomainStartEndE-ValueType
H4 16 90 2.59e-29 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199873
Meta Mutation Damage Score 0.9665 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 94% (50/53)
MGI Phenotype FUNCTION: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an 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 H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C T 5: 114,384,557 (GRCm39) T2237I possibly damaging Het
Adgre1 T A 17: 57,754,954 (GRCm39) L684Q probably damaging Het
Cfap157 T A 2: 32,667,877 (GRCm39) Y488F probably benign Het
D630045J12Rik A G 6: 38,171,696 (GRCm39) I824T probably benign Het
Eno2 T C 6: 124,739,922 (GRCm39) probably benign Het
Fam78b C A 1: 166,906,491 (GRCm39) Q217K probably damaging Het
Fpgs C T 2: 32,577,513 (GRCm39) C219Y probably damaging Het
Garem2 G T 5: 30,318,344 (GRCm39) V106L possibly damaging Het
Grk3 A T 5: 113,094,543 (GRCm39) probably null Het
Hint2 T A 4: 43,654,919 (GRCm39) Y70F probably damaging Het
Ipp A G 4: 116,372,274 (GRCm39) N101S probably benign Het
Kcnj1 A T 9: 32,305,414 (GRCm39) probably benign Het
Kcnk4 T C 19: 6,910,129 (GRCm39) D44G probably benign Het
Kif5c T C 2: 49,578,737 (GRCm39) S122P possibly damaging Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Nipbl T A 15: 8,368,208 (GRCm39) K1171N probably damaging Het
Or4k39 T A 2: 111,239,653 (GRCm39) noncoding transcript Het
Pcf11 A C 7: 92,307,225 (GRCm39) L981R probably damaging Het
Pias2 T A 18: 77,185,399 (GRCm39) L153H probably damaging Het
Pjvk T C 2: 76,481,750 (GRCm39) S68P probably damaging Het
Pkd1 T C 17: 24,804,666 (GRCm39) V3130A probably damaging Het
Plpp4 C A 7: 128,858,813 (GRCm39) probably benign Het
Plxnd1 T A 6: 115,970,937 (GRCm39) H277L probably damaging Het
Pramel26 A T 4: 143,538,143 (GRCm39) V276E possibly damaging Het
Rasgrf2 T C 13: 92,131,797 (GRCm39) D620G possibly damaging Het
Rd3l C A 12: 111,946,092 (GRCm39) S63I possibly damaging Het
Scfd2 G C 5: 74,558,368 (GRCm39) A503G possibly damaging Het
Slco4a1 T C 2: 180,114,455 (GRCm39) V549A probably benign Het
Tenm4 A G 7: 96,545,022 (GRCm39) N2375S probably benign Het
Tespa1 C T 10: 130,197,826 (GRCm39) R283C probably damaging Het
Tle2 A G 10: 81,417,516 (GRCm39) E227G possibly damaging Het
Tnn T G 1: 159,943,650 (GRCm39) E1054D probably benign Het
Tnrc6a A T 7: 122,751,405 (GRCm39) K54* probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpr T A 1: 150,279,712 (GRCm39) D206E probably benign Het
Ugt2b34 A T 5: 87,040,726 (GRCm39) F399I probably damaging Het
Usp3 A T 9: 66,425,776 (GRCm39) D456E probably benign Het
Vmn1r60 T A 7: 5,547,488 (GRCm39) H204L probably damaging Het
Vmn2r97 G T 17: 19,150,616 (GRCm39) A488S probably benign Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Wdr86 T C 5: 24,935,235 (GRCm39) D36G probably damaging Het
Zc3h4 C T 7: 16,163,036 (GRCm39) P479S unknown Het
Zfhx4 A T 3: 5,279,875 (GRCm39) probably benign Het
Zfp607b T A 7: 27,402,149 (GRCm39) C202S probably damaging Het
Zfp882 T A 8: 72,667,453 (GRCm39) F93L probably damaging Het
Other mutations in H3c2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01728:H3c2 APN 13 23,936,712 (GRCm39) missense probably benign 0.35
R0158:H3c2 UTSW 13 23,936,693 (GRCm39) missense probably damaging 0.98
R1836:H3c2 UTSW 13 23,936,715 (GRCm39) missense probably damaging 1.00
R3080:H3c2 UTSW 13 23,936,481 (GRCm39) missense possibly damaging 0.58
R5138:H3c2 UTSW 13 23,936,613 (GRCm39) missense probably damaging 0.99
R6782:H3c2 UTSW 13 23,936,393 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTACTAAGCAGACCGCTCGCAA -3'
(R):5'- CCTGACAGTCCATTACTTTTGGC -3'

Sequencing Primer
(F):5'- TGAAGAAGCCTCACCGCTAC -3'
(R):5'- TTAAAGGCAGTTTCCAGGAC -3'
Posted On 2015-07-21