Incidental Mutation 'R5452:Sirt3'
ID 432578
Institutional Source Beutler Lab
Gene Symbol Sirt3
Ensembl Gene ENSMUSG00000025486
Gene Name sirtuin 3
Synonyms Sir2l3, 2310003L23Rik
MMRRC Submission 042848-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5452 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 140443579-140462222 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 140444928 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 290 (T290I)
Ref Sequence ENSEMBL: ENSMUSP00000147716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026558] [ENSMUST00000026559] [ENSMUST00000106048] [ENSMUST00000137024] [ENSMUST00000211179] [ENSMUST00000210708] [ENSMUST00000210296] [ENSMUST00000209766] [ENSMUST00000147331]
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 possibly damaging
Transcript: ENSMUST00000026559
AA Change: T238I

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000026559
Gene: ENSMUSG00000025486
AA Change: T238I

DomainStartEndE-ValueType
Pfam:SIR2 3 184 5.3e-57 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106048
AA Change: T238I

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101663
Gene: ENSMUSG00000025486
AA Change: T238I

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 probably damaging
Transcript: ENSMUST00000211179
AA Change: T290I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210601
Predicted Effect probably benign
Transcript: ENSMUST00000210708
Predicted Effect probably benign
Transcript: ENSMUST00000210296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152212
Predicted Effect probably benign
Transcript: ENSMUST00000209766
Predicted Effect probably benign
Transcript: ENSMUST00000147331
SMART Domains Protein: ENSMUSP00000121151
Gene: ENSMUSG00000025486

DomainStartEndE-ValueType
low complexity region 16 36 N/A INTRINSIC
low complexity region 43 54 N/A INTRINSIC
Pfam:SIR2 80 258 1.9e-54 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.1%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 A T 8: 41,248,801 (GRCm39) I304F probably damaging Het
Adamts5 A G 16: 85,666,800 (GRCm39) probably benign Het
Akr1c6 A G 13: 4,504,544 (GRCm39) R132G probably benign Het
Ash1l T A 3: 88,892,183 (GRCm39) M1354K possibly damaging Het
C6 T C 15: 4,844,311 (GRCm39) I911T possibly damaging Het
Calm2 T C 17: 87,743,150 (GRCm39) probably null Het
Ccdc80 G A 16: 44,938,528 (GRCm39) R745Q probably damaging Het
Celsr3 T C 9: 108,721,233 (GRCm39) I2685T possibly damaging Het
Chkb T C 15: 89,313,788 (GRCm39) probably benign Het
Dennd5b T A 6: 148,943,011 (GRCm39) probably null Het
Dnah2 T C 11: 69,415,209 (GRCm39) Y175C probably damaging Het
Dnajc13 A G 9: 104,069,313 (GRCm39) S1154P probably benign Het
Ephb4 T C 5: 137,359,404 (GRCm39) S325P probably damaging Het
Fzd9 C T 5: 135,279,714 (GRCm39) R57H probably damaging Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Gm9949 A G 18: 62,313,587 (GRCm39) probably benign Het
Gnb4 A T 3: 32,643,994 (GRCm39) M188K probably benign Het
Hr G T 14: 70,794,067 (GRCm39) G109V probably damaging Het
Lrp1b A G 2: 40,812,328 (GRCm39) S2426P probably damaging Het
Map2k4 A G 11: 65,610,413 (GRCm39) W88R probably damaging Het
Map4 C T 9: 109,866,851 (GRCm39) probably benign Het
Moxd2 C T 6: 40,859,048 (GRCm39) probably null Het
Mrgprx1 T C 7: 47,671,556 (GRCm39) I64V probably benign Het
Mtrex T C 13: 113,049,715 (GRCm39) S232G probably null Het
Or5p68 A C 7: 107,945,312 (GRCm39) I292S probably damaging Het
Padi2 T C 4: 140,659,382 (GRCm39) F229S probably benign Het
Pappa2 T C 1: 158,666,172 (GRCm39) N1136S probably benign Het
Pcdhb1 A T 18: 37,398,811 (GRCm39) N254I possibly damaging Het
Plcb2 A G 2: 118,548,727 (GRCm39) Y400H probably damaging Het
Plce1 A C 19: 38,608,926 (GRCm39) T412P probably benign Het
Prg4 T C 1: 150,331,519 (GRCm39) probably benign Het
Prkdc A G 16: 15,586,501 (GRCm39) N2510S possibly damaging Het
Psme4 T A 11: 30,741,168 (GRCm39) S107T probably benign Het
Resf1 C A 6: 149,230,611 (GRCm39) S1219* probably null Het
Rint1 G T 5: 23,999,363 (GRCm39) A51S probably benign Het
Rsad1 T A 11: 94,434,515 (GRCm39) R306S probably damaging Het
Sema3c T G 5: 17,922,068 (GRCm39) probably null Het
Spam1 G A 6: 24,800,731 (GRCm39) G490D probably benign Het
Speer4f2 C T 5: 17,581,498 (GRCm39) R147W possibly damaging Het
Sppl2c A T 11: 104,078,126 (GRCm39) I309L probably benign Het
Srxn1 G A 2: 151,947,799 (GRCm39) V66M probably damaging Het
St3gal4 C T 9: 34,964,752 (GRCm39) R152H probably damaging Het
Sv2c A T 13: 96,114,591 (GRCm39) F532I probably damaging Het
Tacc1 C A 8: 25,654,431 (GRCm39) K705N probably null Het
Tekt3 G T 11: 62,985,619 (GRCm39) S475I probably damaging Het
Tjap1 T C 17: 46,571,101 (GRCm39) T139A probably damaging Het
Tnfrsf8 T A 4: 145,019,214 (GRCm39) K207M possibly damaging Het
Tnn T C 1: 159,937,831 (GRCm39) T965A probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trmt2a A G 16: 18,068,814 (GRCm39) H270R probably damaging Het
Ttc21a T C 9: 119,780,037 (GRCm39) L448P probably benign Het
Ttll4 C A 1: 74,718,480 (GRCm39) N110K probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Tut7 A G 13: 59,948,471 (GRCm39) Y215H probably damaging Het
Ubr1 A G 2: 120,698,783 (GRCm39) Y1595H possibly damaging Het
Unc45a G A 7: 79,978,787 (GRCm39) P621S probably damaging Het
Xrn2 A T 2: 146,866,633 (GRCm39) probably null Het
Other mutations in Sirt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01326:Sirt3 APN 7 140,444,006 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- AACCATGTCCCAGCAGAGAG -3'
(R):5'- ATGTCCTGATGTGCATGGTCAC -3'

Sequencing Primer
(F):5'- CAGAGAGCTGTAGAGTAGGAAGC -3'
(R):5'- ATGTGCATGGTCACACTGC -3'
Posted On 2016-10-06