Incidental Mutation 'IGL00582:Sirt7'
ID 4455
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sirt7
Ensembl Gene ENSMUSG00000025138
Gene Name sirtuin 7
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # IGL00582
Quality Score
Status
Chromosome 11
Chromosomal Location 120509197-120515840 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120509735 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8BKJ9
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: ENSMUST00000152331
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133625
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130743
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127882
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160059
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153018
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153532
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145356
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154714
Predicted Effect probably benign
Transcript: ENSMUST00000146809
SMART Domains Protein: ENSMUSP00000120405
Gene: ENSMUSG00000025138

DomainStartEndE-ValueType
Pfam:SIR2 1 89 1.6e-12 PFAM
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: 70,674,177 (GRCm39) T513K possibly damaging Het
Capn1 C A 19: 6,057,299 (GRCm39) G383V probably damaging Het
Csf1 A G 3: 107,664,043 (GRCm39) S42P probably benign Het
Hipk2 A G 6: 38,796,257 (GRCm39) probably benign Het
Knl1 A T 2: 118,932,980 (GRCm39) E2046D probably benign Het
Lamc3 T C 2: 31,790,593 (GRCm39) V271A probably damaging Het
Pik3c2a G T 7: 115,975,518 (GRCm39) T683K possibly damaging Het
Ranbp17 G A 11: 33,454,683 (GRCm39) T55I probably damaging Het
Sema3d C T 5: 12,635,162 (GRCm39) R743C probably damaging Het
Setbp1 G A 18: 78,798,894 (GRCm39) Q1429* probably null Het
Sis T C 3: 72,853,969 (GRCm39) I503V probably benign Het
Spmap2l A T 5: 77,208,678 (GRCm39) Y402F probably damaging Het
Usp17le T C 7: 104,417,994 (GRCm39) T383A probably benign Het
Zfp248 A T 6: 118,406,693 (GRCm39) Y299N probably damaging Het
Zfp420 T C 7: 29,574,518 (GRCm39) I246T probably damaging Het
Other mutations in Sirt7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02253:Sirt7 APN 11 120,511,693 (GRCm39) missense probably benign 0.00
IGL02928:Sirt7 APN 11 120,511,042 (GRCm39) missense probably benign 0.03
1mM(1):Sirt7 UTSW 11 120,512,970 (GRCm39) missense probably benign 0.00
R0634:Sirt7 UTSW 11 120,512,955 (GRCm39) unclassified probably benign
R1677:Sirt7 UTSW 11 120,515,365 (GRCm39) missense possibly damaging 0.92
R2279:Sirt7 UTSW 11 120,515,321 (GRCm39) missense probably damaging 1.00
R5260:Sirt7 UTSW 11 120,511,347 (GRCm39) intron probably benign
R5712:Sirt7 UTSW 11 120,511,677 (GRCm39) nonsense probably null
R7186:Sirt7 UTSW 11 120,511,311 (GRCm39) missense probably benign
R7194:Sirt7 UTSW 11 120,509,799 (GRCm39) missense probably benign 0.00
R7462:Sirt7 UTSW 11 120,511,618 (GRCm39) missense probably benign 0.01
R7491:Sirt7 UTSW 11 120,509,837 (GRCm39) missense probably benign 0.00
R7972:Sirt7 UTSW 11 120,510,016 (GRCm39) missense unknown
R8773:Sirt7 UTSW 11 120,514,888 (GRCm39) nonsense probably null
R9680:Sirt7 UTSW 11 120,511,296 (GRCm39) missense
Z1177:Sirt7 UTSW 11 120,509,872 (GRCm39) missense probably benign
Posted On 2012-04-20