Incidental Mutation 'R5260:Sirt7'
ID 401394
Institutional Source Beutler Lab
Gene Symbol Sirt7
Ensembl Gene ENSMUSG00000025138
Gene Name sirtuin 7
MMRRC Submission 042829-MU
Accession Numbers

Genbank: NM_153056.2; Ensembl: ENSMUST00000080202

Is this an essential gene? Probably non essential (E-score: 0.143) question?
Stock # R5260 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 120618372-120625240 bp(-) (GRCm38)
Type of Mutation intron
DNA Base Change (assembly) A to C at 120620521 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026129] [ENSMUST00000058162] [ENSMUST00000080202] [ENSMUST00000106183] [ENSMUST00000106188] [ENSMUST00000146809]
AlphaFold Q8BKJ9
Predicted Effect probably benign
Transcript: ENSMUST00000026129
SMART Domains Protein: ENSMUSP00000026129
Gene: ENSMUSG00000025137

Pfam:CTP_transf_like 26 152 2.6e-32 PFAM
Pfam:CTP_transf_like 235 384 8.9e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058162
SMART Domains Protein: ENSMUSP00000053899
Gene: ENSMUSG00000051510

BRLZ 46 113 4.43e-7 SMART
low complexity region 125 143 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000080202
SMART Domains Protein: ENSMUSP00000079093
Gene: ENSMUSG00000025138

coiled coil region 24 48 N/A INTRINSIC
low complexity region 65 78 N/A INTRINSIC
Pfam:SIR2 134 276 1.1e-22 PFAM
low complexity region 393 400 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106183
SMART Domains Protein: ENSMUSP00000101789
Gene: ENSMUSG00000025138

coiled coil region 24 48 N/A INTRINSIC
low complexity region 65 78 N/A INTRINSIC
SCOP:d1icia_ 92 113 7e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000106187
Predicted Effect probably benign
Transcript: ENSMUST00000106188
SMART Domains Protein: ENSMUSP00000101794
Gene: ENSMUSG00000025137

Pfam:CTP_transf_2 26 152 9.8e-25 PFAM
Pfam:CTP_transf_2 217 332 2e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126148
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127882
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130743
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133625
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134255
Predicted Effect probably benign
Transcript: ENSMUST00000146809
SMART Domains Protein: ENSMUSP00000120405
Gene: ENSMUSG00000025138

Pfam:SIR2 1 89 1.6e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152331
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160059
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153018
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154714
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153532
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 99% (77/78)
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 null allele exhibit premature aging and death associated with inflammatory, degenerative cardiac hypertrophy and cardiac fibrosis. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted, knock-out(2) Targeted, other(1)

Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310007B03Rik A T 1: 93,159,978 V51E probably damaging Het
Abraxas2 A T 7: 132,859,274 I14F probably damaging Het
Acin1 T C 14: 54,642,822 probably benign Het
Adamts9 C A 6: 92,807,137 V1579L probably benign Het
Adra2a T A 19: 54,046,608 C132S probably damaging Het
Aif1 T A 17: 35,171,941 probably null Het
Atf5 A T 7: 44,815,086 Y27* probably null Het
Atm A G 9: 53,506,611 S799P probably damaging Het
Bmp2k T G 5: 97,087,351 probably benign Het
Chaf1a C T 17: 56,065,000 H723Y probably damaging Het
Clint1 T C 11: 45,907,942 W493R probably damaging Het
Cyb561a3 T A 19: 10,587,866 V198D possibly damaging Het
Cyp2j8 T C 4: 96,501,064 E174G possibly damaging Het
Cyp4v3 C T 8: 45,306,980 G512S probably damaging Het
Dnah8 T A 17: 30,700,419 V1122D probably benign Het
Doc2b C A 11: 75,786,163 G128V probably damaging Het
Dysf T C 6: 84,150,034 V1378A probably damaging Het
Efcab5 A T 11: 77,137,651 S421T possibly damaging Het
Efcab6 T G 15: 83,945,123 D672A probably benign Het
Eif2ak3 C A 6: 70,893,129 H933Q probably damaging Het
Erc1 A T 6: 119,761,159 N574K probably damaging Het
Eri2 A T 7: 119,787,846 probably benign Het
Faxc A G 4: 21,948,744 Y152C probably damaging Het
Fbxl7 T A 15: 26,543,499 Y354F probably damaging Het
Fras1 T A 5: 96,735,187 I2526N possibly damaging Het
Gm1966 A G 7: 106,599,204 noncoding transcript Het
Gm5424 A T 10: 62,071,595 noncoding transcript Het
Gm6728 T C 6: 136,486,703 noncoding transcript Het
Golgb1 A T 16: 36,913,141 S917C probably benign Het
Gtpbp3 T C 8: 71,489,418 probably benign Het
Gusb A T 5: 129,999,988 Y220* probably null Het
Hmcn1 A G 1: 150,595,861 V4914A possibly damaging Het
Iars2 C A 1: 185,323,734 C211F probably damaging Het
Kif5b A G 18: 6,211,058 L802P probably damaging Het
Kif5c A G 2: 49,735,590 E624G probably damaging Het
Kmt2d G T 15: 98,842,860 probably benign Het
Krt82 C A 15: 101,548,388 G186C possibly damaging Het
Lca5 G A 9: 83,423,223 R177C probably damaging Het
Mier1 T C 4: 103,162,710 S318P probably benign Het
Obscn A T 11: 59,003,369 I1207N probably damaging Het
Olfr1161 A C 2: 88,025,474 I251L probably benign Het
Olfr1261 A G 2: 89,994,182 D263G probably damaging Het
Olfr1302 A G 2: 111,781,181 Y287C probably damaging Het
Olfr607 A G 7: 103,460,615 F198L probably benign Het
Oog4 C T 4: 143,437,854 G369D probably benign Het
Plec T C 15: 76,176,624 T3060A probably damaging Het
Plekhh2 C T 17: 84,577,165 T769I probably damaging Het
Prkaa1 A T 15: 5,160,668 S65C probably damaging Het
Psma3 T C 12: 70,984,642 probably benign Het
Ptpn18 T A 1: 34,463,510 probably benign Het
Ptprv T C 1: 135,112,260 noncoding transcript Het
Rac1 C A 5: 143,508,131 V104L probably benign Het
Serpinb7 A T 1: 107,434,749 N61I possibly damaging Het
Srl G A 16: 4,482,895 R333* probably null Het
Srprb A T 9: 103,201,920 L756Q probably damaging Het
Tchhl1 T C 3: 93,470,795 S269P probably damaging Het
Tdo2 C T 3: 81,975,323 probably null Het
Teddm1a T C 1: 153,891,900 Y37H probably benign Het
Tenm3 T C 8: 48,236,855 Y1899C probably damaging Het
Tep1 T C 14: 50,838,631 T1681A probably benign Het
Timm44 G T 8: 4,275,919 probably null Het
Trp73 A G 4: 154,062,602 V322A possibly damaging Het
Tsr1 A C 11: 74,905,955 E611A probably damaging Het
Unc80 A G 1: 66,646,587 N2290S possibly damaging Het
Ush2a T C 1: 188,947,079 V4828A possibly damaging Het
Vps51 T G 19: 6,071,033 E283D probably benign Het
Wnt9b C A 11: 103,732,049 S176I possibly damaging Het
Zfp329 A G 7: 12,806,526 probably benign Het
Zfp352 T A 4: 90,224,460 V279D probably damaging Het
Zfp932 C T 5: 110,009,635 Q400* probably null Het
Zxdc T A 6: 90,382,093 L569Q probably damaging Het
Other mutations in Sirt7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00582:Sirt7 APN 11 120618909 missense probably benign 0.04
IGL02253:Sirt7 APN 11 120620867 missense probably benign 0.00
IGL02928:Sirt7 APN 11 120620216 missense probably benign 0.03
1mM(1):Sirt7 UTSW 11 120622144 missense probably benign 0.00
R0634:Sirt7 UTSW 11 120622129 unclassified probably benign
R1677:Sirt7 UTSW 11 120624539 missense possibly damaging 0.92
R2279:Sirt7 UTSW 11 120624495 missense probably damaging 1.00
R5712:Sirt7 UTSW 11 120620851 nonsense probably null
R7186:Sirt7 UTSW 11 120620485 missense probably benign
R7194:Sirt7 UTSW 11 120618973 missense probably benign 0.00
R7462:Sirt7 UTSW 11 120620792 missense probably benign 0.01
R7491:Sirt7 UTSW 11 120619011 missense probably benign 0.00
R7972:Sirt7 UTSW 11 120619190 missense unknown
R8773:Sirt7 UTSW 11 120624062 nonsense probably null
R9680:Sirt7 UTSW 11 120620470 missense
Z1177:Sirt7 UTSW 11 120619046 missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-07-06