Incidental Mutation 'R3114:H3c3'
ID 263940
Institutional Source Beutler Lab
Gene Symbol H3c3
Ensembl Gene ENSMUSG00000069310
Gene Name H3 clustered histone 3
Synonyms H3-143, Hist1h3c
MMRRC Submission 040587-MU
Accession Numbers
Essential gene? Not available question?
Stock # R3114 (G1)
Quality Score 145
Status Not validated
Chromosome 13
Chromosomal Location 23929025-23929504 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 23929290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 64 (R64L)
Ref Sequence ENSEMBL: ENSMUSP00000089346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040914] [ENSMUST00000091752] [ENSMUST00000099703]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000040914
SMART Domains Protein: ENSMUSP00000045816
Gene: ENSMUSG00000036181

DomainStartEndE-ValueType
low complexity region 3 29 N/A INTRINSIC
H15 34 99 2.8e-22 SMART
low complexity region 116 212 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000091752
AA Change: R64L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000089346
Gene: ENSMUSG00000069310
AA Change: R64L

DomainStartEndE-ValueType
H3 34 136 2.12e-75 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000099703
SMART Domains Protein: ENSMUSP00000097294
Gene: ENSMUSG00000075031

DomainStartEndE-ValueType
H2B 28 124 4.64e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118168
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199263
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (33/33)
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 is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atf7 C T 15: 102,442,858 (GRCm39) S417N probably benign Het
Cdt1 C T 8: 123,297,221 (GRCm39) Q305* probably null Het
Cfap65 T A 1: 74,966,291 (GRCm39) K345N probably damaging Het
Chrna3 C T 9: 54,923,334 (GRCm39) C158Y probably damaging Het
Cnot1 T C 8: 96,470,906 (GRCm39) E1314G possibly damaging Het
Col11a2 T G 17: 34,265,442 (GRCm39) V276G possibly damaging Het
Dnah8 A G 17: 31,052,542 (GRCm39) S4346G probably benign Het
Dnhd1 T C 7: 105,345,772 (GRCm39) probably null Het
Espl1 T A 15: 102,231,639 (GRCm39) F1945Y possibly damaging Het
Fzd5 A G 1: 64,774,739 (GRCm39) F341L probably benign Het
Gm1587 T G 14: 78,036,272 (GRCm39) E11D unknown Het
Ighv5-1 A G 12: 113,537,844 (GRCm39) probably benign Het
Klhl3 A G 13: 58,198,841 (GRCm39) probably null Het
Klhl33 A T 14: 51,128,972 (GRCm39) D752E possibly damaging Het
Krt24 T A 11: 99,173,262 (GRCm39) T298S possibly damaging Het
Marchf1 A C 8: 66,840,033 (GRCm39) H272P probably benign Het
Meak7 G A 8: 120,495,056 (GRCm39) A234V probably benign Het
Mei1 C T 15: 82,009,160 (GRCm39) A835V probably benign Het
Mier3 T A 13: 111,843,182 (GRCm39) I178N probably damaging Het
Mlxipl A G 5: 135,162,516 (GRCm39) probably benign Het
Mob3a A T 10: 80,527,136 (GRCm39) V63E probably damaging Het
Nos3 C T 5: 24,577,629 (GRCm39) probably benign Het
Or4a2 T A 2: 89,248,757 (GRCm39) probably null Het
Pcdha11 T A 18: 37,144,860 (GRCm39) I317K probably damaging Het
Pcdha4 T C 18: 37,086,603 (GRCm39) V262A probably benign Het
Pde4d T A 13: 110,084,792 (GRCm39) M519K probably damaging Het
Pds5a A G 5: 65,776,328 (GRCm39) S89P probably damaging Het
Ptar1 T A 19: 23,695,459 (GRCm39) C309S probably benign Het
Rint1 A G 5: 24,024,418 (GRCm39) N682S probably benign Het
Rnmt A G 18: 68,447,079 (GRCm39) E321G probably benign Het
Serpinb8 A G 1: 107,535,023 (GRCm39) I365V probably benign Het
Sik1 T C 17: 32,067,106 (GRCm39) T505A probably benign Het
Slfn10-ps T A 11: 82,919,955 (GRCm39) noncoding transcript Het
Spmip8 T C 8: 96,039,809 (GRCm39) probably null Het
Sspn A T 6: 145,880,095 (GRCm39) I66F possibly damaging Het
Tsc22d1 T C 14: 76,654,777 (GRCm39) S337P probably damaging Het
Wdfy4 A G 14: 32,811,860 (GRCm39) S1715P probably damaging Het
Other mutations in H3c3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03126:H3c3 APN 13 23,929,425 (GRCm39) missense possibly damaging 0.66
IGL03232:H3c3 APN 13 23,929,164 (GRCm39) missense probably damaging 0.96
R2043:H3c3 UTSW 13 23,929,278 (GRCm39) missense probably damaging 1.00
R8749:H3c3 UTSW 13 23,929,108 (GRCm39) missense probably benign 0.36
R8984:H3c3 UTSW 13 23,929,393 (GRCm39) missense probably benign 0.00
X0037:H3c3 UTSW 13 23,929,417 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TCCTTGGGCATGATGGTGAC -3'
(R):5'- AGGGCAAGATTTCTTTCGTCC -3'

Sequencing Primer
(F):5'- TGGTGTCCTCAAACAGAC -3'
(R):5'- ATGGCTCGTACTAAGCAGACCG -3'
Posted On 2015-02-05