Incidental Mutation 'IGL03198:Sirt4'
ID412899
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sirt4
Ensembl Gene ENSMUSG00000029524
Gene Namesirtuin 4
Synonyms4930596O17Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03198
Quality Score
Status
Chromosome5
Chromosomal Location115478010-115484725 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 115483002 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 37 (D37G)
Ref Sequence ENSEMBL: ENSMUSP00000107698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112066] [ENSMUST00000112067]
Predicted Effect probably benign
Transcript: ENSMUST00000112066
AA Change: D37G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107697
Gene: ENSMUSG00000029524
AA Change: D37G

DomainStartEndE-ValueType
Pfam:SIR2 59 264 1.2e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112067
AA Change: D37G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107698
Gene: ENSMUSG00000029524
AA Change: D37G

DomainStartEndE-ValueType
Pfam:SIR2 59 264 3.7e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127479
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131121
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154729
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 knock-out allele are viable and fertile and display no apparent phenotypic abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adhfe1 A T 1: 9,549,952 probably benign Het
Atp6v0a2 T C 5: 124,712,361 probably null Het
Brca1 G T 11: 101,512,711 probably benign Het
Cd55 A T 1: 130,440,371 C372S probably benign Het
Clip2 A T 5: 134,498,082 probably benign Het
Dgkb A G 12: 38,136,616 N262D probably damaging Het
Fam227b C T 2: 126,124,579 probably null Het
Foxj2 G A 6: 122,833,007 probably null Het
Gm4297 T A X: 24,552,571 probably benign Het
Grik3 A G 4: 125,659,762 D429G probably benign Het
Hcfc1 T C X: 73,951,329 I924V possibly damaging Het
Lrrk1 A G 7: 66,306,894 V411A probably damaging Het
Mdh1 A T 11: 21,564,168 V83E probably damaging Het
Pa2g4 A G 10: 128,565,778 V17A probably damaging Het
Podnl1 G A 8: 84,132,189 V548I probably benign Het
Polg A G 7: 79,451,722 V1079A probably damaging Het
Polr2a G T 11: 69,747,281 probably null Het
Ptk2 C T 15: 73,236,216 S722N probably damaging Het
Rock2 A G 12: 16,975,507 D1243G probably benign Het
Slc35d1 T C 4: 103,184,888 Y249C probably damaging Het
Snrnp27 A T 6: 86,682,986 probably null Het
Srek1 T C 13: 103,744,935 probably null Het
Sspo A T 6: 48,477,582 I2951F probably benign Het
Stxbp3 A G 3: 108,827,089 F40L probably damaging Het
Sympk T C 7: 19,044,996 V604A possibly damaging Het
Tbc1d2b T C 9: 90,222,457 Y544C probably damaging Het
Tnpo2 C T 8: 85,051,718 T592I possibly damaging Het
Txndc16 T C 14: 45,151,484 probably benign Het
Ubr5 A T 15: 38,045,720 L120Q probably damaging Het
Wdfy4 A T 14: 33,125,887 M836K probably damaging Het
Wdr48 A G 9: 119,912,413 N141S probably benign Het
Zc3h7a A T 16: 11,162,664 Y28* probably null Het
Zfp423 T C 8: 87,781,676 D659G possibly damaging Het
Other mutations in Sirt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00844:Sirt4 APN 5 115479626 unclassified probably null
IGL02475:Sirt4 APN 5 115482996 missense probably benign 0.00
R0743:Sirt4 UTSW 5 115482955 missense probably benign 0.03
R2136:Sirt4 UTSW 5 115479701 missense probably benign 0.35
R3792:Sirt4 UTSW 5 115480292 missense probably benign 0.33
R3793:Sirt4 UTSW 5 115480292 missense probably benign 0.33
R4791:Sirt4 UTSW 5 115480314 missense possibly damaging 0.52
R4810:Sirt4 UTSW 5 115480449 missense probably damaging 0.99
R4818:Sirt4 UTSW 5 115479726 missense possibly damaging 0.92
R4983:Sirt4 UTSW 5 115482791 missense probably benign 0.06
R5726:Sirt4 UTSW 5 115479646 missense probably benign 0.00
R6402:Sirt4 UTSW 5 115480311 missense probably damaging 1.00
R7238:Sirt4 UTSW 5 115482990 missense possibly damaging 0.76
R7799:Sirt4 UTSW 5 115479746 missense probably benign 0.13
Posted On2016-08-02