Incidental Mutation 'R0478:Sirt3'
ID98867
Institutional Source Beutler Lab
Gene Symbol Sirt3
Ensembl Gene ENSMUSG00000025486
Gene Namesirtuin 3
SynonymsSir2l3, 2310003L23Rik
MMRRC Submission 038678-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0478 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location140863666-140882309 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 140878114 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 41 (C41S)
Ref Sequence ENSEMBL: ENSMUSP00000121151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026559] [ENSMUST00000026560] [ENSMUST00000106048] [ENSMUST00000137024] [ENSMUST00000137710] [ENSMUST00000147331] [ENSMUST00000163610] [ENSMUST00000164681] [ENSMUST00000166889] [ENSMUST00000210296] [ENSMUST00000211179]
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: ENSMUST00000026560
SMART Domains Protein: ENSMUSP00000026560
Gene: ENSMUSG00000025487

DomainStartEndE-ValueType
low complexity region 9 14 N/A INTRINSIC
PINT 263 356 2.26e-21 SMART
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: ENSMUST00000129683
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 benign
Transcript: ENSMUST00000137710
SMART Domains Protein: ENSMUSP00000115202
Gene: ENSMUSG00000025486

DomainStartEndE-ValueType
Pfam:SIR2 3 99 1.2e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140411
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146875
Predicted Effect probably benign
Transcript: ENSMUST00000147331
AA Change: C41S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121151
Gene: ENSMUSG00000025486
AA Change: C41S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151644
Predicted Effect probably benign
Transcript: ENSMUST00000163610
SMART Domains Protein: ENSMUSP00000130580
Gene: ENSMUSG00000025487

DomainStartEndE-ValueType
low complexity region 9 14 N/A INTRINSIC
PDB:4CR4|O 16 347 7e-44 PDB
Blast:PINT 245 329 9e-26 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000164681
SMART Domains Protein: ENSMUSP00000132405
Gene: ENSMUSG00000025487

DomainStartEndE-ValueType
low complexity region 9 14 N/A INTRINSIC
PDB:4CR4|O 16 184 1e-12 PDB
low complexity region 217 232 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166889
SMART Domains Protein: ENSMUSP00000126532
Gene: ENSMUSG00000025487

DomainStartEndE-ValueType
low complexity region 9 14 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000210296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210398
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210706
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210974
Predicted Effect probably benign
Transcript: ENSMUST00000211179
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (49/49)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A T 7: 29,562,589 noncoding transcript Het
4930556J24Rik T G 11: 3,976,259 probably benign Het
Acnat1 T G 4: 49,450,901 D70A probably damaging Het
Adnp2 A G 18: 80,129,334 V620A probably benign Het
Aldoart1 T A 4: 72,852,343 H21L probably benign Het
Birc3 A G 9: 7,860,347 V290A probably damaging Het
Bpifb3 C T 2: 153,931,480 probably benign Het
Camta1 C A 4: 151,075,140 R1614L probably damaging Het
Clmn A G 12: 104,785,491 M235T probably damaging Het
Dmbt1 A G 7: 131,041,187 E245G possibly damaging Het
Epgn G T 5: 91,031,128 V36L probably benign Het
Ets2 C A 16: 95,716,262 P346Q probably damaging Het
Fam222b T C 11: 78,153,856 L81P probably damaging Het
Fancf A C 7: 51,861,692 L188R probably damaging Het
Fibin T C 2: 110,362,734 D21G possibly damaging Het
Fzd6 A G 15: 39,034,034 probably null Het
Gbp4 T A 5: 105,119,433 Q540L probably benign Het
Greb1l T A 18: 10,509,281 L531Q probably damaging Het
Il5ra A G 6: 106,738,462 V137A probably benign Het
Kif26a G A 12: 112,175,789 A826T probably damaging Het
Kiz T C 2: 146,942,158 V537A possibly damaging Het
Klhl32 C T 4: 24,792,777 G15D probably damaging Het
Kmt2d G A 15: 98,853,581 probably benign Het
Lbp T C 2: 158,317,528 probably benign Het
Mmp25 T C 17: 23,632,782 T318A probably benign Het
Mrpl50 A G 4: 49,514,513 C53R probably damaging Het
Msl3l2 G C 10: 56,115,315 E45D probably damaging Het
Nfxl1 A G 5: 72,524,645 probably null Het
Noc3l A G 19: 38,810,006 probably null Het
Olfr1126 T A 2: 87,458,026 V287E probably damaging Het
Olfr1375 T C 11: 51,048,712 S202P probably benign Het
Pgm5 A T 19: 24,834,869 S100T possibly damaging Het
Pi4ka C T 16: 17,309,311 G1093S possibly damaging Het
Pitrm1 T A 13: 6,559,395 S350T probably damaging Het
Ptk2b G T 14: 66,213,372 N48K probably damaging Het
Sept3 T C 15: 82,290,806 L172P probably damaging Het
Sphkap C T 1: 83,278,711 R152H probably damaging Het
St3gal1 T C 15: 67,113,730 Y25C probably damaging Het
Tbc1d31 T C 15: 57,932,536 F175S probably damaging Het
Tfdp2 T A 9: 96,290,583 D43E probably benign Het
Tgm1 G A 14: 55,700,334 Q773* probably null Het
Tmc3 A T 7: 83,622,152 R837S possibly damaging Het
Unc13a A G 8: 71,651,148 V880A possibly damaging Het
Vmn1r237 T A 17: 21,314,819 V268E probably damaging Het
Zan C T 5: 137,400,526 probably benign Het
Zfp760 G T 17: 21,722,014 E57* probably null Het
Other mutations in Sirt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01326:Sirt3 APN 7 140864093 splice site probably benign
IGL03100:Sirt3 APN 7 140865117 missense probably damaging 1.00
R0549:Sirt3 UTSW 7 140869487 critical splice donor site probably null
R1101:Sirt3 UTSW 7 140869628 missense possibly damaging 0.94
R3983:Sirt3 UTSW 7 140878112 nonsense probably null
R4461:Sirt3 UTSW 7 140865000 missense possibly damaging 0.74
R5369:Sirt3 UTSW 7 140869493 missense probably damaging 1.00
R5452:Sirt3 UTSW 7 140865015 missense probably damaging 1.00
R7313:Sirt3 UTSW 7 140878126 missense
R7755:Sirt3 UTSW 7 140878050 missense
Z1176:Sirt3 UTSW 7 140881844 missense
Predicted Primers
Posted On2014-01-10