Incidental Mutation 'IGL00844:Sirt4'
ID 14023
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sirt4
Ensembl Gene ENSMUSG00000029524
Gene Name sirtuin 4
Synonyms 4930596O17Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00844
Quality Score
Status
Chromosome 5
Chromosomal Location 115616069-115622784 bp(-) (GRCm39)
Type of Mutation splice site (4918 bp from exon)
DNA Base Change (assembly) A to G at 115617685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031495] [ENSMUST00000112066] [ENSMUST00000112067] [ENSMUST00000145785]
AlphaFold Q8R216
Predicted Effect probably null
Transcript: ENSMUST00000031495
SMART Domains Protein: ENSMUSP00000031495
Gene: ENSMUSG00000029522

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
PA2c 23 146 1.34e-66 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112066
AA Change: F324L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000107697
Gene: ENSMUSG00000029524
AA Change: F324L

DomainStartEndE-ValueType
Pfam:SIR2 59 264 1.2e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112067
AA Change: F324L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000107698
Gene: ENSMUSG00000029524
AA Change: F324L

DomainStartEndE-ValueType
Pfam:SIR2 59 264 3.7e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127479
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131121
Predicted Effect probably null
Transcript: ENSMUST00000145785
SMART Domains Protein: ENSMUSP00000138683
Gene: ENSMUSG00000029522

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
PA2c 23 76 2.16e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154729
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202822
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A T 14: 32,384,956 (GRCm39) C336* probably null Het
Adgrv1 T C 13: 81,688,238 (GRCm39) D994G probably damaging Het
Arhgap36 G T X: 48,586,631 (GRCm39) Q421H probably damaging Het
Arhgef17 A G 7: 100,578,656 (GRCm39) V764A probably benign Het
Atf7ip T C 6: 136,537,679 (GRCm39) V304A probably benign Het
Babam2 T A 5: 32,164,651 (GRCm39) F299L probably damaging Het
Ceacam11 T G 7: 17,707,595 (GRCm39) D126E possibly damaging Het
Dlg3 C A X: 99,850,199 (GRCm39) H197Q probably damaging Het
Dnmt3a T A 12: 3,955,622 (GRCm39) L590Q probably damaging Het
Fras1 A G 5: 96,682,712 (GRCm39) probably benign Het
Gabarapl1 T C 6: 129,515,598 (GRCm39) F79L probably benign Het
Gabbr2 A G 4: 46,875,711 (GRCm39) V137A probably damaging Het
Gphn T C 12: 78,711,342 (GRCm39) probably benign Het
Hnrnpr A G 4: 136,066,516 (GRCm39) I399M probably benign Het
Madd A C 2: 90,998,213 (GRCm39) S636A probably damaging Het
Pi15 T C 1: 17,691,764 (GRCm39) probably benign Het
Ppp3cb A T 14: 20,581,754 (GRCm39) M87K possibly damaging Het
Ptpro C A 6: 137,391,237 (GRCm39) H786N probably damaging Het
Rnase11 T C 14: 51,287,213 (GRCm39) I114V possibly damaging Het
Stab1 T C 14: 30,869,023 (GRCm39) D1534G probably damaging Het
Sulf2 A G 2: 165,936,412 (GRCm39) S185P possibly damaging Het
Svs6 A C 2: 164,159,507 (GRCm39) K90T possibly damaging Het
Tdrd6 A G 17: 43,928,087 (GRCm39) M2102T probably benign Het
Ttll5 T C 12: 85,890,600 (GRCm39) V77A probably damaging Het
Usp9x T G X: 12,994,685 (GRCm39) S959A probably benign Het
Vps50 C T 6: 3,532,177 (GRCm39) Q227* probably null Het
Zfp57 C A 17: 37,320,514 (GRCm39) Q120K possibly damaging Het
Zswim2 T C 2: 83,754,115 (GRCm39) N182D probably benign Het
Other mutations in Sirt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02475:Sirt4 APN 5 115,621,055 (GRCm39) missense probably benign 0.00
IGL03198:Sirt4 APN 5 115,621,061 (GRCm39) missense probably benign
R0743:Sirt4 UTSW 5 115,621,014 (GRCm39) missense probably benign 0.03
R2136:Sirt4 UTSW 5 115,617,760 (GRCm39) missense probably benign 0.35
R3792:Sirt4 UTSW 5 115,618,351 (GRCm39) missense probably benign 0.33
R3793:Sirt4 UTSW 5 115,618,351 (GRCm39) missense probably benign 0.33
R4791:Sirt4 UTSW 5 115,618,373 (GRCm39) missense possibly damaging 0.52
R4810:Sirt4 UTSW 5 115,618,508 (GRCm39) missense probably damaging 0.99
R4818:Sirt4 UTSW 5 115,617,785 (GRCm39) missense possibly damaging 0.92
R4983:Sirt4 UTSW 5 115,620,850 (GRCm39) missense probably benign 0.06
R5726:Sirt4 UTSW 5 115,617,705 (GRCm39) missense probably benign 0.00
R6402:Sirt4 UTSW 5 115,618,370 (GRCm39) missense probably damaging 1.00
R7238:Sirt4 UTSW 5 115,621,049 (GRCm39) missense possibly damaging 0.76
R7799:Sirt4 UTSW 5 115,617,805 (GRCm39) missense probably benign 0.13
R8171:Sirt4 UTSW 5 115,621,082 (GRCm39) missense probably damaging 1.00
R8865:Sirt4 UTSW 5 115,620,704 (GRCm39) missense probably damaging 1.00
R9226:Sirt4 UTSW 5 115,618,372 (GRCm39) missense probably damaging 0.97
Posted On 2012-12-06