Incidental Mutation 'IGL02630:H3c1'
ID 301274
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 # IGL02630
Quality Score
Status
Chromosome 13
Chromosomal Location 23945868-23946369 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 23946231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 36 (V36M)
Ref Sequence ENSEMBL: ENSMUSP00000089293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055770] [ENSMUST00000091701] [ENSMUST00000102964] [ENSMUST00000102965]
AlphaFold P68433
Predicted Effect probably benign
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 probably benign
Transcript: ENSMUST00000091701
AA Change: V36M

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000089293
Gene: ENSMUSG00000069265
AA Change: V36M

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 8,989,441 (GRCm39) V3575E probably damaging Het
Arfgef3 G A 10: 18,537,140 (GRCm39) probably benign Het
Arhgap23 A G 11: 97,345,123 (GRCm39) T631A probably benign Het
Chka T A 19: 3,942,112 (GRCm39) H355Q possibly damaging Het
Ctsj C T 13: 61,149,214 (GRCm39) A277T probably damaging Het
Ddx49 T C 8: 70,753,668 (GRCm39) D67G probably damaging Het
Dennd4b T C 3: 90,180,284 (GRCm39) S716P probably benign Het
Enpp5 G T 17: 44,393,766 (GRCm39) D321Y probably damaging Het
Espl1 A G 15: 102,205,253 (GRCm39) E17G probably benign Het
Fam161b G A 12: 84,400,688 (GRCm39) P428L probably benign Het
Fbxw7 T C 3: 84,872,586 (GRCm39) L256S probably damaging Het
Fgfr2 G T 7: 129,830,525 (GRCm39) probably null Het
Foxred2 C T 15: 77,831,362 (GRCm39) V484I probably benign Het
Gm4744 T A 6: 40,927,403 (GRCm39) probably benign Het
Hipk2 T C 6: 38,795,456 (GRCm39) N271S possibly damaging Het
Ifna1 A G 4: 88,768,496 (GRCm39) D58G possibly damaging Het
Igkv4-80 A T 6: 68,993,680 (GRCm39) Y70* probably null Het
Ivns1abp G A 1: 151,235,386 (GRCm39) R218H probably damaging Het
Kng1 A T 16: 22,898,595 (GRCm39) probably benign Het
Lars1 T C 18: 42,390,234 (GRCm39) D11G probably damaging Het
Lgals12 T C 19: 7,578,607 (GRCm39) probably benign Het
Lpar4 T A X: 105,974,817 (GRCm39) F334I probably benign Het
Muc5b G A 7: 141,416,968 (GRCm39) G3305S probably benign Het
Nalcn T C 14: 123,555,291 (GRCm39) D864G probably benign Het
Ndor1 T C 2: 25,145,299 (GRCm39) E22G probably damaging Het
Nt5c2 T A 19: 46,912,749 (GRCm39) M69L probably benign Het
Or52ab4 A C 7: 102,987,636 (GRCm39) Y125S probably damaging Het
Or8k22 T C 2: 86,163,212 (GRCm39) I163V probably benign Het
Pde12 A T 14: 26,387,552 (GRCm39) H455Q probably damaging Het
Pdia6 A G 12: 17,324,422 (GRCm39) H91R probably benign Het
Pdk4 A T 6: 5,491,671 (GRCm39) I179K possibly damaging Het
Prl2c1 T C 13: 28,041,480 (GRCm39) probably benign Het
Rasgrf2 C T 13: 92,267,900 (GRCm39) E35K probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sash1 T A 10: 8,620,299 (GRCm39) M454L probably benign Het
Secisbp2 C A 13: 51,832,942 (GRCm39) T608K possibly damaging Het
Slco1a7 T C 6: 141,668,836 (GRCm39) Y532C probably damaging Het
Slmap A G 14: 26,143,586 (GRCm39) V750A possibly damaging Het
Spaca6 T A 17: 18,051,351 (GRCm39) L9Q probably damaging Het
Sycp1 T C 3: 102,786,080 (GRCm39) probably benign Het
Sycp2 A T 2: 178,043,712 (GRCm39) D131E probably damaging Het
Tc2n A T 12: 101,659,404 (GRCm39) D176E probably damaging Het
Thoc7 T C 14: 13,953,154 (GRCm38) I83V probably damaging Het
Trank1 T C 9: 111,202,143 (GRCm39) V1590A possibly damaging Het
Tyrp1 T C 4: 80,758,994 (GRCm39) V289A possibly damaging Het
Ube2dnl1 T A X: 113,815,483 (GRCm39) C119* probably null Het
Vmn1r191 T A 13: 22,363,431 (GRCm39) I108F possibly damaging Het
Zfp710 T A 7: 79,731,789 (GRCm39) I322N 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
IGL03252:H3c1 APN 13 23,945,943 (GRCm39) splice site probably null
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 2015-04-16