Incidental Mutation 'IGL01326:Sirt3'
ID 74293
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sirt3
Ensembl Gene ENSMUSG00000025486
Gene Name sirtuin 3
Synonyms Sir2l3, 2310003L23Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01326
Quality Score
Status
Chromosome 7
Chromosomal Location 140443579-140462222 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 140444006 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026558] [ENSMUST00000026559] [ENSMUST00000106048] [ENSMUST00000137024] [ENSMUST00000210296] [ENSMUST00000211179] [ENSMUST00000210708] [ENSMUST00000209766]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000026558
SMART Domains Protein: ENSMUSP00000026558
Gene: ENSMUSG00000025485

DomainStartEndE-ValueType
Pfam:Ric8 66 505 2.3e-125 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000026559
SMART Domains Protein: ENSMUSP00000026559
Gene: ENSMUSG00000025486

DomainStartEndE-ValueType
Pfam:SIR2 3 184 5.3e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106048
SMART Domains Protein: ENSMUSP00000101663
Gene: ENSMUSG00000025486

DomainStartEndE-ValueType
Pfam:SIR2 3 184 8.7e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123925
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131850
Predicted Effect probably benign
Transcript: ENSMUST00000137024
SMART Domains Protein: ENSMUSP00000114247
Gene: ENSMUSG00000025486

DomainStartEndE-ValueType
Pfam:SIR2 3 178 1.7e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147815
Predicted Effect probably benign
Transcript: ENSMUST00000210296
Predicted Effect probably benign
Transcript: ENSMUST00000211179
Predicted Effect probably benign
Transcript: ENSMUST00000210708
Predicted Effect probably benign
Transcript: ENSMUST00000209766
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210601
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152212
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Two alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one null allele exhibit increased systolic blood pressure while mice homozygous for another allele exhibit reduced ATP production. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 G A 3: 137,992,672 (GRCm39) V263M probably damaging Het
Akap13 T A 7: 75,375,096 (GRCm39) H1909Q probably benign Het
Atg2b C T 12: 105,588,403 (GRCm39) A1936T probably damaging Het
Atp8b3 G T 10: 80,360,210 (GRCm39) L954M probably damaging Het
C8a T C 4: 104,713,617 (GRCm39) Y171C probably damaging Het
Cd6 A G 19: 10,768,466 (GRCm39) S508P probably benign Het
Cdk4 A G 10: 126,900,492 (GRCm39) D86G possibly damaging Het
Cdr2l G T 11: 115,281,796 (GRCm39) R100S probably benign Het
Cndp1 T A 18: 84,640,357 (GRCm39) T283S probably benign Het
Cr2 T C 1: 194,823,529 (GRCm39) Y1023C probably null Het
Csmd3 A G 15: 47,713,181 (GRCm39) F1494L probably benign Het
Eeig2 A G 3: 108,887,101 (GRCm39) V299A possibly damaging Het
Eng G T 2: 32,562,394 (GRCm39) G231W probably benign Het
Erp44 A G 4: 48,218,126 (GRCm39) V181A probably benign Het
Fkbp15 A G 4: 62,241,487 (GRCm39) S553P probably damaging Het
Glg1 A G 8: 111,909,205 (GRCm39) V495A probably damaging Het
Gm9631 A T 11: 121,836,454 (GRCm39) D28E possibly damaging Het
Gnptab G T 10: 88,268,927 (GRCm39) L543F probably damaging Het
H4c3 A T 13: 23,882,353 (GRCm39) I27N probably damaging Het
Khdrbs2 T G 1: 32,696,558 (GRCm39) L329R possibly damaging Het
Kidins220 C A 12: 25,088,498 (GRCm39) H1080Q probably damaging Het
Maml1 G A 11: 50,156,715 (GRCm39) P487S probably benign Het
Me1 C T 9: 86,480,771 (GRCm39) probably null Het
Morc2a C T 11: 3,631,775 (GRCm39) R569C probably benign Het
Mrc1 A G 2: 14,271,335 (GRCm39) Q413R probably damaging Het
Mrgprx1 A T 7: 47,671,517 (GRCm39) C77S probably benign Het
Mtarc2 T C 1: 184,566,048 (GRCm39) probably benign Het
Myo1d A T 11: 80,575,147 (GRCm39) probably benign Het
Nr4a1 T G 15: 101,171,940 (GRCm39) L538R probably damaging Het
Olfm1 T C 2: 28,119,564 (GRCm39) Y385H probably damaging Het
Or4a39 A T 2: 89,236,675 (GRCm39) F249L possibly damaging Het
Or5m9 A G 2: 85,877,627 (GRCm39) E267G probably damaging Het
Pkd1 T A 17: 24,795,148 (GRCm39) Y2278* probably null Het
Plcg2 T C 8: 118,300,738 (GRCm39) probably benign Het
Prkdc G T 16: 15,647,556 (GRCm39) C3660F probably benign Het
Ptpn11 T C 5: 121,281,199 (GRCm39) D493G probably damaging Het
Rad23b T A 4: 55,383,601 (GRCm39) F278I possibly damaging Het
Saxo2 T C 7: 82,297,613 (GRCm39) I9V probably benign Het
Scn7a T C 2: 66,582,604 (GRCm39) I98V probably benign Het
Serac1 T A 17: 6,124,528 (GRCm39) probably benign Het
Simc1 T C 13: 54,672,473 (GRCm39) C274R probably benign Het
Tctn3 A G 19: 40,585,880 (GRCm39) L555P probably damaging Het
Ttc14 A G 3: 33,855,507 (GRCm39) I151V probably benign Het
Ush2a T A 1: 187,995,518 (GRCm39) Y96* probably null Het
Usp42 T C 5: 143,706,970 (GRCm39) T270A possibly damaging Het
Vmn1r31 A G 6: 58,449,784 (GRCm39) I27T probably benign Het
Vmn2r93 G A 17: 18,536,906 (GRCm39) A530T possibly damaging Het
Other mutations in Sirt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03100:Sirt3 APN 7 140,445,030 (GRCm39) missense probably damaging 1.00
R0478:Sirt3 UTSW 7 140,458,027 (GRCm39) missense
R0549:Sirt3 UTSW 7 140,449,400 (GRCm39) critical splice donor site probably null
R1101:Sirt3 UTSW 7 140,449,541 (GRCm39) missense possibly damaging 0.94
R3983:Sirt3 UTSW 7 140,458,025 (GRCm39) nonsense probably null
R4461:Sirt3 UTSW 7 140,444,913 (GRCm39) missense possibly damaging 0.74
R5369:Sirt3 UTSW 7 140,449,406 (GRCm39) missense probably damaging 1.00
R5452:Sirt3 UTSW 7 140,444,928 (GRCm39) missense probably damaging 1.00
R7313:Sirt3 UTSW 7 140,458,039 (GRCm39) missense
R7755:Sirt3 UTSW 7 140,457,963 (GRCm39) missense
R8260:Sirt3 UTSW 7 140,456,319 (GRCm39) missense
R8702:Sirt3 UTSW 7 140,458,027 (GRCm39) missense
R9117:Sirt3 UTSW 7 140,449,362 (GRCm39) intron probably benign
Z1176:Sirt3 UTSW 7 140,461,757 (GRCm39) missense
Posted On 2013-10-07