Incidental Mutation 'IGL03252:H3c1'
ID 414549
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H3c1
Ensembl Gene ENSMUSG00000069265
Gene Name H3 clustered histone 1
Synonyms Hist1h3a
Accession Numbers
Essential gene? Not available question?
Stock # IGL03252
Quality Score
Status
Chromosome 13
Chromosomal Location 23945868-23946369 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 23945943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000062030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055770] [ENSMUST00000091701] [ENSMUST00000102964] [ENSMUST00000102965]
AlphaFold P68433
Predicted Effect probably null
Transcript: ENSMUST00000055770
SMART Domains Protein: ENSMUSP00000062030
Gene: ENSMUSG00000049539

DomainStartEndE-ValueType
H15 36 101 3.22e-22 SMART
low complexity region 120 213 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000091701
AA Change: R132C

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000089293
Gene: ENSMUSG00000069265
AA Change: R132C

DomainStartEndE-ValueType
H3 34 136 1.5e-75 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102964
SMART Domains Protein: ENSMUSP00000100029
Gene: ENSMUSG00000060093

DomainStartEndE-ValueType
H4 16 90 2.59e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102965
SMART Domains Protein: ENSMUSP00000100030
Gene: ENSMUSG00000069266

DomainStartEndE-ValueType
H4 16 90 2.59e-29 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139822
Coding Region Coverage
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
B4galnt2 A G 11: 95,764,757 (GRCm39) S237P probably damaging Het
Btla A G 16: 45,059,509 (GRCm39) H71R possibly damaging Het
Calml3 T A 13: 3,853,759 (GRCm39) K149* probably null Het
Cyp2c29 T C 19: 39,275,619 (GRCm39) W20R probably damaging Het
Dnah8 G A 17: 30,892,894 (GRCm39) probably null Het
Elf3 T C 1: 135,182,691 (GRCm39) T345A probably damaging Het
Erc2 T C 14: 28,197,606 (GRCm39) probably benign Het
Gm10375 C T 14: 43,842,289 (GRCm39) C147Y probably damaging Het
Gsdma2 A G 11: 98,539,916 (GRCm39) R13G probably damaging Het
Ighg3 G T 12: 113,324,184 (GRCm39) P101H unknown Het
L3mbtl3 A G 10: 26,207,710 (GRCm39) probably benign Het
Micall2 T C 5: 139,702,481 (GRCm39) N254S probably benign Het
Myh4 A T 11: 67,143,042 (GRCm39) D990V probably damaging Het
Ncapd3 T A 9: 26,962,745 (GRCm39) F394I probably damaging Het
Nek1 C T 8: 61,525,364 (GRCm39) Q601* probably null Het
Or4k37 T A 2: 111,159,125 (GRCm39) Y120* probably null Het
Or52n2c C T 7: 104,574,594 (GRCm39) V126I probably benign Het
Plcb1 C T 2: 135,212,348 (GRCm39) P980S probably benign Het
Puf60 T C 15: 75,943,699 (GRCm39) D224G probably damaging Het
Pus7l T A 15: 94,423,691 (GRCm39) H586L probably benign Het
Rims2 T C 15: 39,315,748 (GRCm39) S585P probably benign Het
Rxfp1 T A 3: 79,574,990 (GRCm39) D207V probably benign Het
Scgb2b7 A T 7: 31,404,506 (GRCm39) C65S probably damaging Het
Sptlc2 A G 12: 87,402,431 (GRCm39) I165T probably benign Het
Sult2a3 A G 7: 13,801,559 (GRCm39) V260A probably damaging Het
Tas2r125 A G 6: 132,887,553 (GRCm39) probably null Het
Tbx18 T A 9: 87,587,633 (GRCm39) I495F probably damaging Het
Top2b A T 14: 16,393,163 (GRCm38) N274I possibly damaging Het
Vmn2r53 T G 7: 12,340,318 (GRCm39) T52P probably damaging Het
Other mutations in H3c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00942:H3c1 APN 13 23,945,921 (GRCm39) unclassified probably benign
IGL00949:H3c1 APN 13 23,946,014 (GRCm39) missense probably damaging 1.00
IGL02630:H3c1 APN 13 23,946,231 (GRCm39) missense probably benign 0.07
R1709:H3c1 UTSW 13 23,945,964 (GRCm39) missense probably damaging 0.98
R8356:H3c1 UTSW 13 23,946,083 (GRCm39) missense probably damaging 0.99
R8456:H3c1 UTSW 13 23,946,083 (GRCm39) missense probably damaging 0.99
Z1177:H3c1 UTSW 13 23,946,233 (GRCm39) missense possibly damaging 0.70
Z1177:H3c1 UTSW 13 23,946,005 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02