Incidental Mutation 'PIT4283001:Sirt6'
ID 554374
Institutional Source Beutler Lab
Gene Symbol Sirt6
Ensembl Gene ENSMUSG00000034748
Gene Name sirtuin 6
Synonyms 2810449N18Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.372) question?
Stock # PIT4283001 (G1)
Quality Score 161.009
Status Not validated
Chromosome 10
Chromosomal Location 81457621-81463631 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81458252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 334 (S334G)
Ref Sequence ENSEMBL: ENSMUSP00000048971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042923] [ENSMUST00000119324] [ENSMUST00000143424]
AlphaFold P59941
Predicted Effect possibly damaging
Transcript: ENSMUST00000042923
AA Change: S334G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000048971
Gene: ENSMUSG00000034748
AA Change: S334G

DomainStartEndE-ValueType
Pfam:SIR2 52 81 1.1e-7 PFAM
Pfam:SIR2 80 221 5.2e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000119324
AA Change: S294G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113953
Gene: ENSMUSG00000034748
AA Change: S294G

DomainStartEndE-ValueType
Pfam:SIR2 12 48 2.1e-7 PFAM
Pfam:SIR2 41 181 4.8e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143424
SMART Domains Protein: ENSMUSP00000118238
Gene: ENSMUSG00000034748

DomainStartEndE-ValueType
Pfam:SIR2 12 50 1.1e-8 PFAM
Coding Region Coverage
  • 1x: 93.2%
  • 3x: 91.1%
  • 10x: 86.5%
  • 20x: 76.2%
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 NAD-dependent enzymes that are implicated in cellular stress resistance, genomic stability, aging and energy homeostasis. The encoded protein is localized to the nucleus, exhibits ADP-ribosyl transferase and histone deacetylase activities, and plays a role in DNA repair, maintenance of telomeric chromatin, inflammation, lipid and glucose metabolism. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a null allele display late postnatal lethality with lordokyphosis, progressive lymphopenia, loss of subcutaneous fat, reduced bone density, decreased serum glucose, increased chromosomal instability, and increased sensitivity to ionizing radiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik A C 10: 76,285,093 (GRCm39) M1L probably benign Het
Aacs C A 5: 125,561,719 (GRCm39) A119D probably damaging Het
Abcb1b T A 5: 8,863,693 (GRCm39) V216D probably damaging Het
Adap2 T A 11: 80,068,089 (GRCm39) L367H probably damaging Het
Adcy7 T A 8: 89,042,120 (GRCm39) M373K probably damaging Het
Arhgap31 A G 16: 38,429,354 (GRCm39) L507P probably damaging Het
Brinp3 C T 1: 146,777,161 (GRCm39) T536I probably damaging Het
Cacna1b T C 2: 24,521,953 (GRCm39) D1718G probably damaging Het
Cacna2d1 A C 5: 16,507,292 (GRCm39) Y347S probably benign Het
Carf C A 1: 60,167,161 (GRCm39) P165T probably benign Het
Cplx3 T C 9: 57,523,359 (GRCm39) E66G probably damaging Het
Dnaaf5 A G 5: 139,151,917 (GRCm39) T523A probably benign Het
Dnajc10 T C 2: 80,161,739 (GRCm39) S326P probably benign Het
Eif4enif1 A T 11: 3,184,464 (GRCm39) E528D probably damaging Het
Elp2 G A 18: 24,755,187 (GRCm39) D392N probably damaging Het
Fat1 T C 8: 45,482,577 (GRCm39) S3079P probably damaging Het
Fat1 G T 8: 45,490,244 (GRCm39) V3719F probably damaging Het
Fat3 T A 9: 15,917,897 (GRCm39) S1509C possibly damaging Het
Fcsk A G 8: 111,614,064 (GRCm39) V693A probably benign Het
Frmpd4 C T X: 166,512,030 (GRCm39) R8H possibly damaging Het
Glud1 T A 14: 34,058,129 (GRCm39) I380N probably damaging Het
Gnl2 A G 4: 124,940,099 (GRCm39) S324G probably damaging Het
Gramd1b C T 9: 40,366,752 (GRCm39) G72D probably benign Het
Gramd2b A T 18: 56,622,735 (GRCm39) E299V probably damaging Het
Grin1 C T 2: 25,187,864 (GRCm39) R544H probably damaging Het
Ifitm7 A T 16: 13,801,471 (GRCm39) V96E probably damaging Het
Lsm14b T A 2: 179,674,336 (GRCm39) M293K probably benign Het
Marf1 T A 16: 13,946,432 (GRCm39) T1230S probably benign Het
Morc2b T A 17: 33,355,042 (GRCm39) H910L probably benign Het
Mylip A G 13: 45,560,110 (GRCm39) N247S possibly damaging Het
Nup50l A G 6: 96,142,696 (GRCm39) I116T probably benign Het
Or4a73 T C 2: 89,420,572 (GRCm39) M296V probably benign Het
Osbpl3 T C 6: 50,323,068 (GRCm39) S264G probably benign Het
Pds5b C T 5: 150,701,774 (GRCm39) R802W probably damaging Het
Pik3cg T C 12: 32,255,864 (GRCm39) E41G probably damaging Het
Plk3 A G 4: 116,990,489 (GRCm39) I112T probably damaging Het
Pwp2 A G 10: 78,020,921 (GRCm39) M1T probably null Het
Rtel1 T C 2: 180,988,683 (GRCm39) I417T probably benign Het
Sirt1 A T 10: 63,157,565 (GRCm39) N616K probably benign Het
Strc T C 2: 121,205,788 (GRCm39) Y827C probably damaging Het
Taf1b T C 12: 24,597,594 (GRCm39) Y385H possibly damaging Het
Tgm5 T C 2: 120,902,066 (GRCm39) E201G possibly damaging Het
Thbd G C 2: 148,249,003 (GRCm39) N288K probably benign Het
Ush2a T A 1: 188,169,064 (GRCm39) N1068K probably benign Het
Vmn2r52 T C 7: 9,904,756 (GRCm39) E361G possibly damaging Het
Vps13d T C 4: 144,835,158 (GRCm39) N2736S Het
Vwa5b1 A G 4: 138,327,574 (GRCm39) L334P probably damaging Het
Zan A G 5: 137,398,355 (GRCm39) S4226P unknown Het
Zdhhc24 T C 19: 4,928,778 (GRCm39) M1T probably null Het
Other mutations in Sirt6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02673:Sirt6 APN 10 81,461,671 (GRCm39) missense probably damaging 1.00
IGL03028:Sirt6 APN 10 81,463,375 (GRCm39) unclassified probably benign
R0927:Sirt6 UTSW 10 81,458,475 (GRCm39) missense probably damaging 1.00
R1792:Sirt6 UTSW 10 81,462,355 (GRCm39) missense possibly damaging 0.89
R4618:Sirt6 UTSW 10 81,462,408 (GRCm39) missense probably damaging 1.00
R6154:Sirt6 UTSW 10 81,462,339 (GRCm39) missense probably damaging 1.00
R7225:Sirt6 UTSW 10 81,458,315 (GRCm39) missense probably benign
R7986:Sirt6 UTSW 10 81,458,344 (GRCm39) missense probably benign 0.00
R8043:Sirt6 UTSW 10 81,458,240 (GRCm39) critical splice donor site probably null
R8406:Sirt6 UTSW 10 81,458,328 (GRCm39) missense probably benign 0.05
R8703:Sirt6 UTSW 10 81,461,548 (GRCm39) critical splice donor site probably benign
R8963:Sirt6 UTSW 10 81,462,378 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- AGGGACACAGTGAGACTTTG -3'
(R):5'- AGACTCATGAAGCATCTGGGG -3'

Sequencing Primer
(F):5'- GCTATAGCAGTGAGTTCCAGACC -3'
(R):5'- GAGATTCCAGCCTGGGATG -3'
Posted On 2019-06-07