Incidental Mutation 'R7972:Sirt7'
Institutional Source Beutler Lab
Gene Symbol Sirt7
Ensembl Gene ENSMUSG00000025138
Gene Namesirtuin 7
MMRRC Submission
Accession Numbers

Genbank: NM_153056.2; Ensembl: ENSMUST00000080202

Is this an essential gene? Possibly non essential (E-score: 0.493) question?
Stock #R7972 (G1)
Quality Score225.009
Status Validated
Chromosomal Location120618372-120625240 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 120619190 bp
Amino Acid Change Serine to Proline at position 183 (S183P)
Ref Sequence ENSEMBL: ENSMUSP00000120405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026129] [ENSMUST00000080202] [ENSMUST00000106183] [ENSMUST00000106188] [ENSMUST00000146809]
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: 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 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 unknown
Transcript: ENSMUST00000146809
AA Change: S183P
SMART Domains Protein: ENSMUSP00000120405
Gene: ENSMUSG00000025138
AA Change: S183P

Pfam:SIR2 1 89 1.6e-12 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (48/49)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16a T A 17: 35,101,311 V384E probably damaging Het
Acacb C T 5: 114,226,857 R1533* probably null Het
Alox12 T A 11: 70,242,687 M604L probably benign Het
Amotl2 C T 9: 102,723,769 T345I probably benign Het
Brdt A T 5: 107,348,549 I176F possibly damaging Het
Cdk5 G T 5: 24,419,658 T245K probably benign Het
Chd9 A T 8: 91,005,767 R1304S unknown Het
Clpsl2 G A 17: 28,550,728 G55R probably damaging Het
Cyp2j11 T A 4: 96,297,634 E438V probably damaging Het
Dao AGG AG 5: 114,015,209 probably benign Het
Dnah10 T C 5: 124,726,885 V92A probably benign Het
Dusp27 T A 1: 166,099,139 E968V probably damaging Het
Evl C T 12: 108,681,524 R295* probably null Het
Fam184a A T 10: 53,638,259 L1022Q probably damaging Het
Foxd4 T C 19: 24,900,230 H202R probably damaging Het
Fry T C 5: 150,310,396 V16A probably benign Het
Gstcd A T 3: 133,072,133 F306I probably benign Het
Hist1h2bl A G 13: 21,715,807 S113P possibly damaging Het
Hivep3 T C 4: 120,097,514 V1009A possibly damaging Het
Hoxd12 G T 2: 74,675,925 R227L probably damaging Het
Ifi208 T A 1: 173,678,990 M113K possibly damaging Het
Kcnh4 T G 11: 100,752,452 T330P probably damaging Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,436,913 probably benign Het
Lin28a G A 4: 134,006,263 P158S probably damaging Het
Muc16 C A 9: 18,645,764 E3078* probably null Het
Naaladl1 A G 19: 6,106,244 N120S probably damaging Het
Nol10 G A 12: 17,352,647 R40H probably benign Het
Ntng1 G A 3: 110,135,486 S8L probably benign Het
Olfr1212 T A 2: 88,958,833 Y122* probably null Het
Olfr1243 T G 2: 89,527,604 I269L probably benign Het
Pacsin1 T A 17: 27,708,639 F319I unknown Het
Pla2g4d G A 2: 120,278,932 T212I probably benign Het
Ppp4r1 T A 17: 65,833,098 C664S possibly damaging Het
Prodh2 T C 7: 30,511,155 I377T probably damaging Het
Prss57 A T 10: 79,783,396 L243H probably benign Het
Pxdn C T 12: 30,006,602 L1271F probably damaging Het
Ros1 G A 10: 52,154,830 R581* probably null Het
Rps6kc1 C T 1: 190,799,124 G894S probably benign Het
Slc12a4 G A 8: 105,951,605 R319W possibly damaging Het
Tbc1d8 A G 1: 39,392,169 F374S probably damaging Het
Tdrd1 T A 19: 56,848,702 D489E probably damaging Het
Tiprl T A 1: 165,236,974 probably benign Het
Tpt1 T C 14: 75,848,099 *173Q probably null Het
Trim17 A G 11: 58,968,568 I203V probably benign Het
Trim43b T A 9: 89,091,308 H124L probably damaging Het
Triobp T C 15: 78,967,986 I780T probably damaging Het
Ttc30a1 A T 2: 75,980,458 M427K probably damaging Het
Tyrobp G A 7: 30,414,638 G101R Het
Vmn1r181 A T 7: 23,984,446 H112L probably benign Het
Wdr19 A G 5: 65,223,850 N406D probably damaging Het
Zc3h12a T C 4: 125,119,935 K379E probably benign Het
Zcwpw1 T C 5: 137,801,061 I230T probably benign Het
Zfhx4 A G 3: 5,412,473 T3383A probably benign 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
R5260:Sirt7 UTSW 11 120620521 intron probably benign
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
R8773:Sirt7 UTSW 11 120624062 nonsense probably null
Z1177:Sirt7 UTSW 11 120619046 missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On2020-09-15