Incidental Mutation 'IGL02475:Sirt4'
ID 294921
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 # IGL02475
Quality Score
Status
Chromosome 5
Chromosomal Location 115616069-115622784 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115621055 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8R216
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: 146,119,343 (GRCm39) probably benign Het
5730409E04Rik A G 4: 126,505,742 (GRCm39) E90G probably damaging Het
Abhd6 T A 14: 8,039,849 (GRCm38) I27N probably damaging Het
Akap6 A T 12: 53,186,277 (GRCm39) E1230D probably benign Het
Bcl2l12 A G 7: 44,646,317 (GRCm39) V31A possibly damaging Het
Cep350 G A 1: 155,738,341 (GRCm39) R2501W probably damaging Het
Cnga3 A G 1: 37,297,072 (GRCm39) probably null Het
Crcp T C 5: 130,088,699 (GRCm39) probably benign Het
Creb5 G A 6: 53,670,909 (GRCm39) S304N probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnah5 A G 15: 28,219,296 (GRCm39) D38G probably benign Het
Fam171a1 A G 2: 3,224,527 (GRCm39) I293V possibly damaging Het
Fbxw10 T C 11: 62,748,561 (GRCm39) V396A possibly damaging Het
Gm10340 G A 14: 14,832,274 (GRCm39) probably benign Het
Grik3 A G 4: 125,544,310 (GRCm39) T344A probably benign Het
Itga7 T C 10: 128,769,958 (GRCm39) F34S probably damaging Het
Musk T C 4: 58,353,936 (GRCm39) probably benign Het
Neb G T 2: 52,182,831 (GRCm39) N1038K probably damaging Het
Nf1 T C 11: 79,426,493 (GRCm39) Y1636H probably damaging Het
Ngef G T 1: 87,406,872 (GRCm39) T632K possibly damaging Het
Nme1nme2 A G 11: 93,846,400 (GRCm39) V16A probably damaging Het
Nts A G 10: 102,326,108 (GRCm39) probably benign Het
Olfml2b A G 1: 170,509,743 (GRCm39) D697G probably damaging Het
Or5ac23 A T 16: 59,149,088 (GRCm39) H261Q probably benign Het
Or5m8 T C 2: 85,822,376 (GRCm39) F72L probably benign Het
Or9i1 T A 19: 13,839,663 (GRCm39) C169S probably damaging Het
Otof T C 5: 30,534,026 (GRCm39) R1428G probably damaging Het
Pgghg T C 7: 140,525,633 (GRCm39) S479P Het
Rnaseh2b T A 14: 62,584,064 (GRCm39) F37I probably damaging Het
Rtn4 T A 11: 29,683,801 (GRCm39) I1031N probably damaging Het
Rxfp2 A G 5: 149,987,151 (GRCm39) E344G probably benign Het
Scel A G 14: 103,774,444 (GRCm39) R89G possibly damaging Het
Slc6a12 T A 6: 121,331,334 (GRCm39) probably null Het
Snapc3 C A 4: 83,368,333 (GRCm39) H277N probably benign Het
Susd2 A G 10: 75,473,333 (GRCm39) probably null Het
Tagap1 T C 17: 7,223,826 (GRCm39) Q290R probably benign Het
Tenm3 A T 8: 48,732,233 (GRCm39) probably benign Het
Tmem54 A T 4: 129,002,073 (GRCm39) H40L probably damaging Het
Tnks1bp1 T C 2: 84,889,721 (GRCm39) S683P probably damaging Het
Tnpo2 A G 8: 85,777,131 (GRCm39) D547G probably benign Het
Tpd52l2 G A 2: 181,141,667 (GRCm39) V17M probably benign Het
Trip11 T A 12: 101,861,942 (GRCm39) T208S probably benign Het
Ttc17 C A 2: 94,194,721 (GRCm39) D551Y probably damaging Het
Ttll12 A T 15: 83,471,302 (GRCm39) W222R probably damaging Het
Xkr8 A T 4: 132,455,512 (GRCm39) I287N probably damaging Het
Zdhhc2 G T 8: 40,926,066 (GRCm39) G354C probably null Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Other mutations in Sirt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00844:Sirt4 APN 5 115,617,685 (GRCm39) splice site probably null
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 2015-04-16