Incidental Mutation 'R1101:Sirt3'
ID 98092
Institutional Source Beutler Lab
Gene Symbol Sirt3
Ensembl Gene ENSMUSG00000025486
Gene Name sirtuin 3
Synonyms Sir2l3, 2310003L23Rik
MMRRC Submission 039174-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1101 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 140443579-140462222 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140449541 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 135 (V135A)
Ref Sequence ENSEMBL: ENSMUSP00000147504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026559] [ENSMUST00000106048] [ENSMUST00000137024] [ENSMUST00000147331] [ENSMUST00000210296] [ENSMUST00000211179]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000026559
AA Change: V135A

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000026559
Gene: ENSMUSG00000025486
AA Change: V135A

DomainStartEndE-ValueType
Pfam:SIR2 3 184 5.3e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106048
AA Change: V135A

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101663
Gene: ENSMUSG00000025486
AA Change: V135A

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

DomainStartEndE-ValueType
Pfam:SIR2 3 178 1.7e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000147331
AA Change: V212A

PolyPhen 2 Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000121151
Gene: ENSMUSG00000025486
AA Change: V212A

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 possibly damaging
Transcript: ENSMUST00000210296
AA Change: V135A

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210706
Predicted Effect possibly damaging
Transcript: ENSMUST00000211179
AA Change: V135A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 91.2%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T C 6: 146,853,909 (GRCm39) I249M possibly damaging Het
2610021A01Rik C A 7: 41,276,783 (GRCm39) H829N probably damaging Het
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Abi3bp G T 16: 56,426,521 (GRCm39) R512L probably damaging Het
Acot2 T G 12: 84,039,624 (GRCm39) S378A probably benign Het
Akap9 T C 5: 4,096,205 (GRCm39) I2360T probably benign Het
Bank1 T C 3: 135,989,625 (GRCm39) D155G probably benign Het
Bsn A G 9: 107,993,610 (GRCm39) V714A probably damaging Het
Cdh15 G A 8: 123,587,585 (GRCm39) V170I possibly damaging Het
Clcn2 G A 16: 20,522,345 (GRCm39) T787I probably damaging Het
Dapk1 A G 13: 60,864,599 (GRCm39) H131R probably damaging Het
Dct T G 14: 118,274,034 (GRCm39) D291A probably damaging Het
Dhx37 A G 5: 125,492,216 (GRCm39) Y1128H probably damaging Het
Dip2c A T 13: 9,684,780 (GRCm39) I1174F probably damaging Het
Eif3l A G 15: 78,959,467 (GRCm39) Y3C probably damaging Het
Enpp5 A G 17: 44,392,258 (GRCm39) N229S possibly damaging Het
Fam83b A T 9: 76,452,952 (GRCm39) H38Q possibly damaging Het
Fcamr T A 1: 130,742,223 (GRCm39) probably null Het
Hdac2 G A 10: 36,867,805 (GRCm39) V184I probably damaging Het
Igf2bp2 A T 16: 21,981,700 (GRCm39) L5Q probably damaging Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Ireb2 T A 9: 54,816,986 (GRCm39) H951Q probably benign Het
Lman1 T A 18: 66,120,969 (GRCm39) M418L probably benign Het
Lrrfip2 C T 9: 111,019,293 (GRCm39) R275W probably damaging Het
Mast3 T A 8: 71,239,307 (GRCm39) I424F probably damaging Het
Mep1a T C 17: 43,802,584 (GRCm39) D147G probably benign Het
Mtr C A 13: 12,204,411 (GRCm39) E1128D possibly damaging Het
Ogfod1 C A 8: 94,790,932 (GRCm39) S534R probably benign Het
Or4c107 A T 2: 88,789,328 (GRCm39) I173F possibly damaging Het
Or4k42 T C 2: 111,319,787 (GRCm39) T239A probably damaging Het
Or5k1 A G 16: 58,617,615 (GRCm39) V198A probably benign Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Pcdh18 T A 3: 49,707,828 (GRCm39) D882V probably damaging Het
Pik3cg C T 12: 32,245,645 (GRCm39) G868S probably null Het
Plppr5 T G 3: 117,456,172 (GRCm39) M231R probably damaging Het
Polr2a T C 11: 69,638,897 (GRCm39) T46A probably benign Het
Ppp4r3a C A 12: 101,017,830 (GRCm39) R440L probably damaging Het
Serpinb9e A T 13: 33,444,071 (GRCm39) T364S probably benign Het
Supt16 T C 14: 52,408,896 (GRCm39) N826S probably null Het
Tbr1 T C 2: 61,635,083 (GRCm39) I11T probably benign Het
Trim72 A G 7: 127,609,419 (GRCm39) E407G possibly damaging Het
Vps72 C A 3: 95,026,487 (GRCm39) T144K probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- TGAAAAGGTGACACCGTCAACCAG -3'
(R):5'- TGTTCAAGACGCCTACAAAGCACTC -3'

Sequencing Primer
(F):5'- GTCAACCAGGCCCTAGC -3'
(R):5'- GCTCCCCACATCTAAGAAATAGTTG -3'
Posted On 2014-01-05