Incidental Mutation 'R3792:Sirt4'
ID 272580
Institutional Source Beutler Lab
Gene Symbol Sirt4
Ensembl Gene ENSMUSG00000029524
Gene Name sirtuin 4
Synonyms 4930596O17Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3792 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 115616069-115622784 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115618351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 241 (D241G)
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: D241G

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000107697
Gene: ENSMUSG00000029524
AA Change: D241G

DomainStartEndE-ValueType
Pfam:SIR2 59 264 1.2e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112067
AA Change: D241G

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000107698
Gene: ENSMUSG00000029524
AA Change: D241G

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
Meta Mutation Damage Score 0.0888 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595M18Rik A G X: 80,464,423 (GRCm39) V428A probably benign Het
Aanat T C 11: 116,487,057 (GRCm39) L88P probably damaging Het
Arhgap5 A T 12: 52,566,671 (GRCm39) N1214I probably benign Het
BC034090 A T 1: 155,117,543 (GRCm39) S192T probably damaging Het
Bco1 G A 8: 117,857,415 (GRCm39) V461I possibly damaging Het
Cass4 C T 2: 172,274,478 (GRCm39) P753L probably damaging Het
Cripto C T 9: 110,772,258 (GRCm39) R46Q probably benign Het
Cubn G A 2: 13,432,725 (GRCm39) R1199C probably damaging Het
Dcaf12l1 T C X: 43,877,313 (GRCm39) N495S possibly damaging Het
Dop1b C A 16: 93,568,734 (GRCm39) Q1599K possibly damaging Het
Dyrk1a C A 16: 94,485,933 (GRCm39) L427I probably benign Het
Esp16 T C 17: 39,848,739 (GRCm39) I11T possibly damaging Het
Esyt3 A T 9: 99,197,334 (GRCm39) F832Y possibly damaging Het
F8 A T X: 74,328,971 (GRCm39) probably null Het
Fam135a T C 1: 24,067,392 (GRCm39) Y259C probably benign Het
Fbxo38 T C 18: 62,666,533 (GRCm39) probably null Het
Fbxo43 T C 15: 36,163,005 (GRCm39) I67M probably benign Het
Gcfc2 G T 6: 81,907,748 (GRCm39) C154F probably benign Het
Hipk2 C T 6: 38,675,491 (GRCm39) R1029H probably damaging Het
Ilk G A 7: 105,391,294 (GRCm39) W73* probably null Het
Ism1 T C 2: 139,582,173 (GRCm39) S162P probably damaging Het
Itpkb T A 1: 180,160,738 (GRCm39) L288Q possibly damaging Het
Itpr2 C A 6: 146,316,852 (GRCm39) K306N probably damaging Het
Kdm2a C T 19: 4,374,540 (GRCm39) E864K possibly damaging Het
Kdm4b G A 17: 56,662,944 (GRCm39) V172M probably damaging Het
Kyat3 A T 3: 142,443,605 (GRCm39) K406M probably null Het
Lipe T A 7: 25,097,045 (GRCm39) K299N possibly damaging Het
Lrrc2 T A 9: 110,795,585 (GRCm39) C123* probably null Het
Mptx2 T A 1: 173,102,240 (GRCm39) I150F probably damaging Het
Mroh2b G T 15: 4,953,102 (GRCm39) W612L probably damaging Het
Mucl2 T C 15: 103,928,692 (GRCm39) T27A possibly damaging Het
Nfx1 T A 4: 41,004,357 (GRCm39) C709* probably null Het
Oprm1 T C 10: 6,789,544 (GRCm39) S390P probably benign Het
Or2m12 A G 16: 19,104,696 (GRCm39) S266P possibly damaging Het
Or51v8 A T 7: 103,319,353 (GRCm39) I295N probably damaging Het
Pcdhb14 T C 18: 37,582,715 (GRCm39) L607P probably damaging Het
Rap1gds1 A T 3: 138,671,721 (GRCm39) I133N probably damaging Het
Rasl10a T C 11: 5,009,461 (GRCm39) L83S probably damaging Het
Satb2 C T 1: 56,884,779 (GRCm39) V382M probably damaging Het
Sh3gl1 T C 17: 56,325,949 (GRCm39) K160R probably damaging Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Spef2 A G 15: 9,704,622 (GRCm39) I454T probably damaging Het
Stag3 A G 5: 138,296,611 (GRCm39) K490E probably benign Het
Tcstv7b G T 13: 120,702,467 (GRCm39) V88F probably damaging Het
Tctn3 T C 19: 40,600,155 (GRCm39) K95R probably benign Het
Trp53bp1 T C 2: 121,030,810 (GRCm39) I1784V probably damaging Het
Ttc21a A T 9: 119,783,231 (GRCm39) E511V probably damaging Het
Ttn A G 2: 76,542,232 (GRCm39) F25258L probably damaging Het
Ttn A C 2: 76,639,290 (GRCm39) C13828G probably damaging Het
Vmn1r210 T A 13: 23,011,573 (GRCm39) M238L probably damaging Het
Vmn1r38 A G 6: 66,753,891 (GRCm39) I75T probably benign Het
Vmn2r84 T A 10: 130,221,669 (GRCm39) *850C probably null Het
Vwa7 T C 17: 35,244,135 (GRCm39) probably null Het
Zfp128 T A 7: 12,618,659 (GRCm39) D52E probably damaging Het
Zfp618 T C 4: 63,033,728 (GRCm39) probably benign Het
Zkscan2 T A 7: 123,084,225 (GRCm39) E633V possibly damaging Het
Other mutations in Sirt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00844:Sirt4 APN 5 115,617,685 (GRCm39) splice site probably null
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
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
Predicted Primers PCR Primer
(F):5'- TTGCCGGTTATAGTTCAACATGTAC -3'
(R):5'- AGTCCTGTGCCTGAACTGTG -3'

Sequencing Primer
(F):5'- AGTTCTCACCCTGTAGGA -3'
(R):5'- TGCTGCAGGAACGCTTC -3'
Posted On 2015-03-25