Incidental Mutation 'IGL00582:Sirt7'
ID4455
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sirt7
Ensembl Gene ENSMUSG00000025138
Gene Namesirtuin 7
Synonyms
Accession Numbers

Genbank: NM_153056.2; Ensembl: ENSMUST00000080202

Is this an essential gene? Possibly non essential (E-score: 0.449) question?
Stock #IGL00582
Quality Score
Status
Chromosome11
Chromosomal Location120618372-120625240 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 120618909 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 383 (I383T)
Ref Sequence ENSEMBL: ENSMUSP00000079093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026129] [ENSMUST00000080202] [ENSMUST00000106188] [ENSMUST00000146809]
Predicted Effect probably benign
Transcript: ENSMUST00000026129
SMART Domains Protein: ENSMUSP00000026129
Gene: ENSMUSG00000025137

DomainStartEndE-ValueType
Pfam:CTP_transf_like 26 152 2.6e-32 PFAM
Pfam:CTP_transf_like 235 384 8.9e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000080202
AA Change: I383T

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000079093
Gene: ENSMUSG00000025138
AA Change: I383T

DomainStartEndE-ValueType
coiled coil region 24 48 N/A INTRINSIC
low complexity region 65 78 N/A INTRINSIC
Pfam:SIR2 134 276 1.1e-22 PFAM
low complexity region 393 400 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000106187
Predicted Effect probably benign
Transcript: ENSMUST00000106188
SMART Domains Protein: ENSMUSP00000101794
Gene: ENSMUSG00000025137

DomainStartEndE-ValueType
Pfam:CTP_transf_2 26 152 9.8e-25 PFAM
Pfam:CTP_transf_2 217 332 2e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126148
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127882
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130743
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133625
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145356
Predicted Effect probably benign
Transcript: ENSMUST00000146809
SMART Domains Protein: ENSMUSP00000120405
Gene: ENSMUSG00000025138

DomainStartEndE-ValueType
Pfam:SIR2 1 89 1.6e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152331
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153018
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153532
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154714
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160059
Coding Region Coverage
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 IV of the sirtuin family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit premature aging and death associated with inflammatory, degenerative cardiac hypertrophy and cardiac fibrosis. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted, knock-out(2) Targeted, other(1)

Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam10 C A 9: 70,766,895 T513K possibly damaging Het
Capn1 C A 19: 6,007,269 G383V probably damaging Het
Csf1 A G 3: 107,756,727 S42P probably benign Het
Hipk2 A G 6: 38,819,322 probably benign Het
Knl1 A T 2: 119,102,499 E2046D probably benign Het
Lamc3 T C 2: 31,900,581 V271A probably damaging Het
Pik3c2a G T 7: 116,376,283 T683K possibly damaging Het
Ranbp17 G A 11: 33,504,683 T55I probably damaging Het
Sema3d C T 5: 12,585,195 R743C probably damaging Het
Setbp1 G A 18: 78,755,679 Q1429* probably null Het
Sis T C 3: 72,946,636 I503V probably benign Het
Thegl A T 5: 77,060,831 Y402F probably damaging Het
Usp17le T C 7: 104,768,787 T383A probably benign Het
Zfp248 A T 6: 118,429,732 Y299N probably damaging Het
Zfp420 T C 7: 29,875,093 I246T probably damaging Het
Other mutations in Sirt7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02253:Sirt7 APN 11 120620867 missense probably benign 0.00
IGL02928:Sirt7 APN 11 120620216 missense probably benign 0.03
1mM(1):Sirt7 UTSW 11 120622144 missense probably benign 0.00
R0634:Sirt7 UTSW 11 120622129 unclassified probably benign
R1677:Sirt7 UTSW 11 120624539 missense possibly damaging 0.92
R2279:Sirt7 UTSW 11 120624495 missense probably damaging 1.00
R5260:Sirt7 UTSW 11 120620521 intron probably benign
R5712:Sirt7 UTSW 11 120620851 nonsense probably null
R7186:Sirt7 UTSW 11 120620485 missense probably benign
R7194:Sirt7 UTSW 11 120618973 missense probably benign 0.00
R7462:Sirt7 UTSW 11 120620792 missense probably benign 0.01
R7491:Sirt7 UTSW 11 120619011 missense probably benign 0.00
Z1177:Sirt7 UTSW 11 120619046 missense not run
Posted On2012-04-20