Incidental Mutation 'IGL02475:Sirt4'
ID294921
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 #IGL02475
Quality Score
Status
Chromosome5
Chromosomal Location115478010-115484725 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 115482996 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 39 (E39G)
Ref Sequence ENSEMBL: ENSMUSP00000107698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112066] [ENSMUST00000112067]
Predicted Effect probably benign
Transcript: ENSMUST00000112066
AA Change: E39G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000107697
Gene: ENSMUSG00000029524
AA Change: E39G

DomainStartEndE-ValueType
Pfam:SIR2 59 264 1.2e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112067
AA Change: E39G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000107698
Gene: ENSMUSG00000029524
AA Change: E39G

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik A T 5: 146,182,533 probably benign Het
5730409E04Rik A G 4: 126,611,949 E90G probably damaging Het
Abhd6 T A 14: 8,039,849 I27N probably damaging Het
Akap6 A T 12: 53,139,494 E1230D probably benign Het
Bcl2l12 A G 7: 44,996,893 V31A possibly damaging Het
Cep350 G A 1: 155,862,595 R2501W probably damaging Het
Cnga3 A G 1: 37,257,991 probably null Het
Crcp T C 5: 130,059,858 probably benign Het
Creb5 G A 6: 53,693,924 S304N probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnah5 A G 15: 28,219,150 D38G probably benign Het
Fam171a1 A G 2: 3,223,490 I293V possibly damaging Het
Fbxw10 T C 11: 62,857,735 V396A possibly damaging Het
Gm10340 G A 14: 3,140,482 probably benign Het
Gm20390 A G 11: 93,955,574 V16A probably damaging Het
Grik3 A G 4: 125,650,517 T344A probably benign Het
Itga7 T C 10: 128,934,089 F34S probably damaging Het
Musk T C 4: 58,353,936 probably benign Het
Neb G T 2: 52,292,819 N1038K probably damaging Het
Nf1 T C 11: 79,535,667 Y1636H probably damaging Het
Ngef G T 1: 87,479,150 T632K possibly damaging Het
Nts A G 10: 102,490,247 probably benign Het
Olfml2b A G 1: 170,682,174 D697G probably damaging Het
Olfr1031 T C 2: 85,992,032 F72L probably benign Het
Olfr1502 T A 19: 13,862,299 C169S probably damaging Het
Olfr205 A T 16: 59,328,725 H261Q probably benign Het
Otof T C 5: 30,376,682 R1428G probably damaging Het
Pgghg T C 7: 140,945,720 S479P Het
Rnaseh2b T A 14: 62,346,615 F37I probably damaging Het
Rtn4 T A 11: 29,733,801 I1031N probably damaging Het
Rxfp2 A G 5: 150,063,686 E344G probably benign Het
Scel A G 14: 103,537,008 R89G possibly damaging Het
Slc6a12 T A 6: 121,354,375 probably null Het
Snapc3 C A 4: 83,450,096 H277N probably benign Het
Susd2 A G 10: 75,637,499 probably null Het
Tagap1 T C 17: 6,956,427 Q290R probably benign Het
Tenm3 A T 8: 48,279,198 probably benign Het
Tmem54 A T 4: 129,108,280 H40L probably damaging Het
Tnks1bp1 T C 2: 85,059,377 S683P probably damaging Het
Tnpo2 A G 8: 85,050,502 D547G probably benign Het
Tpd52l2 G A 2: 181,499,874 V17M probably benign Het
Trip11 T A 12: 101,895,683 T208S probably benign Het
Ttc17 C A 2: 94,364,376 D551Y probably damaging Het
Ttll12 A T 15: 83,587,101 W222R probably damaging Het
Xkr8 A T 4: 132,728,201 I287N probably damaging Het
Zdhhc2 G T 8: 40,473,025 G354C probably null Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Other mutations in Sirt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00844:Sirt4 APN 5 115479626 splice site probably null
IGL03198:Sirt4 APN 5 115483002 missense probably benign
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
R8171:Sirt4 UTSW 5 115483023 missense probably damaging 1.00
Posted On2015-04-16