Incidental Mutation 'IGL02057:Sirt1'
ID185278
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sirt1
Ensembl Gene ENSMUSG00000020063
Gene Namesirtuin 1
SynonymsSir2, Sir2alpha
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02057
Quality Score
Status
Chromosome10
Chromosomal Location63319005-63381704 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 63325203 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 357 (S357P)
Ref Sequence ENSEMBL: ENSMUSP00000137565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020257] [ENSMUST00000105442] [ENSMUST00000120239] [ENSMUST00000146028] [ENSMUST00000177694]
Predicted Effect probably damaging
Transcript: ENSMUST00000020257
AA Change: S357P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020257
Gene: ENSMUSG00000020063
AA Change: S357P

DomainStartEndE-ValueType
low complexity region 6 28 N/A INTRINSIC
low complexity region 46 94 N/A INTRINSIC
low complexity region 108 131 N/A INTRINSIC
low complexity region 136 148 N/A INTRINSIC
Pfam:SIR2 253 439 1.3e-62 PFAM
PDB:4KXQ|B 629 648 4e-6 PDB
low complexity region 649 667 N/A INTRINSIC
low complexity region 672 687 N/A INTRINSIC
low complexity region 702 713 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105442
AA Change: S318P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101082
Gene: ENSMUSG00000020063
AA Change: S318P

DomainStartEndE-ValueType
low complexity region 6 28 N/A INTRINSIC
low complexity region 46 94 N/A INTRINSIC
low complexity region 108 131 N/A INTRINSIC
Pfam:SIR2 214 400 4e-63 PFAM
PDB:4KXQ|B 590 609 3e-6 PDB
low complexity region 610 628 N/A INTRINSIC
low complexity region 633 648 N/A INTRINSIC
low complexity region 663 674 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000120239
AA Change: S357P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112595
Gene: ENSMUSG00000020063
AA Change: S357P

DomainStartEndE-ValueType
low complexity region 6 28 N/A INTRINSIC
low complexity region 46 94 N/A INTRINSIC
low complexity region 108 131 N/A INTRINSIC
low complexity region 136 148 N/A INTRINSIC
Pfam:SIR2 253 439 6.5e-64 PFAM
PDB:4KXQ|B 629 648 4e-6 PDB
low complexity region 649 667 N/A INTRINSIC
low complexity region 672 687 N/A INTRINSIC
low complexity region 702 713 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146028
SMART Domains Protein: ENSMUSP00000117819
Gene: ENSMUSG00000020063

DomainStartEndE-ValueType
Pfam:SIR2 83 140 1.9e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148516
Predicted Effect probably damaging
Transcript: ENSMUST00000177694
AA Change: S357P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137565
Gene: ENSMUSG00000020063
AA Change: S357P

DomainStartEndE-ValueType
low complexity region 6 28 N/A INTRINSIC
low complexity region 46 94 N/A INTRINSIC
low complexity region 108 131 N/A INTRINSIC
low complexity region 136 148 N/A INTRINSIC
Pfam:SIR2 253 439 7.3e-63 PFAM
low complexity region 465 483 N/A INTRINSIC
low complexity region 488 503 N/A INTRINSIC
low complexity region 518 529 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the sirtuin family of proteins, characterized by their deacetylase activity and proposed role in longevity. The encoded protein regulates gene expression in a wide range of cell and tissue types through its NAD+-dependent deacetylation of histones, transcription factors and transcriptional coactivators. Brain-specific overexpression of this gene has been shown to result in increased median lifespan. Viability of homozygous knockout mice for this gene varies with strain background. Homozygous knockout mice of strains that do not exhibit embryonic lethality are sterile and have a reduced lifespan. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele show embryonic and fetal lethality, abnormal embryogenesis, and abnormal cellular phenotypes of derived MEFs. Mice homozygous for other knock-out alleles may exhibit peri- and postnatal lethality and heart, mammary gland, eye, and reproductive system anomalies. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankk1 T C 9: 49,416,772 N369S probably damaging Het
Atp13a3 C T 16: 30,332,364 A1043T probably benign Het
AY358078 G A 14: 51,820,305 V287I unknown Het
Cemip T C 7: 83,987,453 E324G probably damaging Het
Ckap5 T A 2: 91,600,707 D1487E possibly damaging Het
Dscam G A 16: 96,716,073 Q879* probably null Het
Eci2 A G 13: 34,990,776 L50P probably damaging Het
Erp44 A T 4: 48,236,964 H65Q probably benign Het
Fahd1 A T 17: 24,849,596 I169N probably damaging Het
Galm T C 17: 80,181,567 I214T probably benign Het
Gipc3 T A 10: 81,343,134 N42Y probably damaging Het
Gm10696 T A 3: 94,176,355 S50C probably damaging Het
H2-Eb2 A T 17: 34,335,767 probably benign Het
Itgb3 A T 11: 104,632,348 I113F probably damaging Het
Lef1 T G 3: 131,200,402 Y342* probably null Het
Lilrb4a G A 10: 51,492,007 D168N possibly damaging Het
Olfr1023 T A 2: 85,886,931 F44I probably benign Het
Olfr623 T A 7: 103,660,653 Y199F probably damaging Het
Orc1 T G 4: 108,588,729 S15A possibly damaging Het
Pdk2 C T 11: 95,028,498 G317D probably benign Het
Rab37 T C 11: 115,160,717 S217P probably benign Het
Rere C T 4: 150,614,832 probably benign Het
Scn11a C T 9: 119,765,470 G1286S probably damaging Het
Smpdl3b T A 4: 132,733,713 E351V probably benign Het
Sox6 C A 7: 115,550,075 G355W probably damaging Het
Srpk2 G T 5: 23,518,707 A502E probably damaging Het
Trim67 G A 8: 124,823,130 V500I probably benign Het
Ube2v2 A G 16: 15,577,058 V83A probably benign Het
Usp43 A T 11: 67,856,287 S865T probably benign Het
Vdac1 G A 11: 52,376,544 probably null Het
Vmn2r69 T A 7: 85,411,782 H198L possibly damaging Het
Vmn2r93 T C 17: 18,325,770 C635R probably damaging Het
Other mutations in Sirt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02106:Sirt1 APN 10 63335829 missense probably damaging 1.00
PIT4283001:Sirt1 UTSW 10 63321786 missense probably benign 0.02
R0658:Sirt1 UTSW 10 63321736 unclassified probably benign
R0724:Sirt1 UTSW 10 63323973 missense possibly damaging 0.82
R1653:Sirt1 UTSW 10 63321809 missense probably benign
R1831:Sirt1 UTSW 10 63320646 missense probably benign 0.13
R4133:Sirt1 UTSW 10 63335659 missense probably null 0.42
R4250:Sirt1 UTSW 10 63337098 critical splice acceptor site probably null
R4378:Sirt1 UTSW 10 63338949 missense probably benign 0.00
R4396:Sirt1 UTSW 10 63321998 missense probably benign 0.00
R4776:Sirt1 UTSW 10 63335722 missense probably benign 0.17
R4898:Sirt1 UTSW 10 63322004 missense probably benign 0.35
R7151:Sirt1 UTSW 10 63323996 missense probably damaging 1.00
R7365:Sirt1 UTSW 10 63322003 missense probably benign
R7467:Sirt1 UTSW 10 63322150 missense probably benign 0.00
Posted On2014-05-07