Incidental Mutation 'R7225:Sirt6'
ID 562104
Institutional Source Beutler Lab
Gene Symbol Sirt6
Ensembl Gene ENSMUSG00000034748
Gene Name sirtuin 6
Synonyms 2810449N18Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.351) question?
Stock # R7225 (G1)
Quality Score 216.009
Status Validated
Chromosome 10
Chromosomal Location 81621785-81627797 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81622481 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 313 (S313P)
Ref Sequence ENSEMBL: ENSMUSP00000048971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042923] [ENSMUST00000119324] [ENSMUST00000143424]
AlphaFold P59941
Predicted Effect probably benign
Transcript: ENSMUST00000042923
AA Change: S313P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000048971
Gene: ENSMUSG00000034748
AA Change: S313P

Pfam:SIR2 52 81 1.1e-7 PFAM
Pfam:SIR2 80 221 5.2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119324
AA Change: S273P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113953
Gene: ENSMUSG00000034748
AA Change: S273P

Pfam:SIR2 12 48 2.1e-7 PFAM
Pfam:SIR2 41 181 4.8e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143424
SMART Domains Protein: ENSMUSP00000118238
Gene: ENSMUSG00000034748

Pfam:SIR2 12 50 1.1e-8 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (62/63)
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 NAD-dependent enzymes that are implicated in cellular stress resistance, genomic stability, aging and energy homeostasis. The encoded protein is localized to the nucleus, exhibits ADP-ribosyl transferase and histone deacetylase activities, and plays a role in DNA repair, maintenance of telomeric chromatin, inflammation, lipid and glucose metabolism. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a null allele display late postnatal lethality with lordokyphosis, progressive lymphopenia, loss of subcutaneous fat, reduced bone density, decreased serum glucose, increased chromosomal instability, and increased sensitivity to ionizing radiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik T C 12: 110,670,865 probably benign Het
5430403G16Rik T C 5: 109,677,149 H145R possibly damaging Het
5730480H06Rik T A 5: 48,380,233 probably null Het
Actn4 A T 7: 28,898,699 V492D probably damaging Het
Alpk2 T C 18: 65,305,199 E1041G probably benign Het
Asap1 G A 15: 64,130,250 T404M probably damaging Het
Cd22 C T 7: 30,877,634 A83T not run Het
Cdan1 T C 2: 120,724,912 T783A probably benign Het
Cdh9 C T 15: 16,856,073 S733F probably damaging Het
Cfap54 A G 10: 92,904,374 F2282S unknown Het
Chst9 T C 18: 15,452,661 K282E probably damaging Het
Clcn1 G A 6: 42,293,462 D232N probably damaging Het
Clpb T A 7: 101,711,465 L234Q probably damaging Het
Cluh T G 11: 74,666,406 probably null Het
Cnp C T 11: 100,580,587 Q352* probably null Het
Cyfip1 AGTGT AGT 7: 55,928,189 probably null Het
Dtx3 C T 10: 127,191,489 C272Y probably damaging Het
Dync2h1 A G 9: 7,142,756 I1156T probably benign Het
Epg5 T A 18: 78,012,702 V1697E probably benign Het
Exoc3l4 A G 12: 111,423,624 D211G probably benign Het
Fank1 A G 7: 133,853,259 K36R probably benign Het
Fat4 T C 3: 38,980,176 I2659T possibly damaging Het
Fer1l5 T C 1: 36,420,952 W1893R possibly damaging Het
Gorasp2 T A 2: 70,684,047 L256Q probably damaging Het
Gpc5 T G 14: 115,552,298 V528G probably damaging Het
Gria2 T A 3: 80,802,631 probably benign Het
Htatip2 A G 7: 49,770,856 E150G possibly damaging Het
Jak3 C A 8: 71,685,511 Q869K probably benign Het
Jmjd1c T C 10: 67,226,065 V1218A probably benign Het
Kcnf1 A G 12: 17,175,693 C176R possibly damaging Het
Kcnq4 A G 4: 120,746,914 V88A probably benign Het
Lmod3 T A 6: 97,247,384 D492V probably benign Het
Lurap1l A C 4: 80,911,481 S43R probably benign Het
Mamdc4 T C 2: 25,565,546 H890R possibly damaging Het
Mertk T G 2: 128,801,562 N960K possibly damaging Het
Nudt9 C A 5: 104,065,100 D346E probably benign Het
Olfr1434 A T 19: 12,283,467 T140S probably benign Het
Opa1 A G 16: 29,614,039 probably null Het
Oxr1 C T 15: 41,813,608 P187L not run Het
Paxbp1 T C 16: 91,027,068 E564G probably damaging Het
Pcdhb13 C T 18: 37,444,437 R623C possibly damaging Het
Pkhd1l1 G T 15: 44,546,941 V2615F probably damaging Het
Plin3 T C 17: 56,286,541 T58A possibly damaging Het
Por A G 5: 135,732,587 D309G probably benign Het
Ppp2r5e T C 12: 75,468,579 K261R probably damaging Het
Ptpn18 C T 1: 34,472,846 T366I possibly damaging Het
Ptprz1 G A 6: 23,000,929 G1006E possibly damaging Het
Rnf219 T C 14: 104,479,858 T360A probably benign Het
Rpl12 C T 2: 32,961,897 probably benign Het
Rpsa T G 9: 120,131,156 F262V probably benign Het
Sh3pxd2a G T 19: 47,267,389 N991K probably damaging Het
Shank2 T A 7: 144,285,025 N19K probably benign Het
Sik1 T C 17: 31,854,300 T61A probably benign Het
Sipa1l3 A C 7: 29,399,428 V472G probably damaging Het
Slc12a7 A G 13: 73,763,962 probably benign Het
Sox13 A T 1: 133,387,124 V266E probably benign Het
Spag9 T C 11: 94,097,358 C833R probably damaging Het
Tcof1 T C 18: 60,828,448 T812A unknown Het
Tnfsf4 A G 1: 161,417,250 D170G possibly damaging Het
Tshz3 A G 7: 36,769,657 N357S probably damaging Het
Txk C T 5: 72,700,714 D418N probably damaging Het
Ube2j2 A G 4: 155,949,316 probably null Het
Vmn2r84 G A 10: 130,386,683 P556L probably damaging Het
Zfp442 T C 2: 150,409,005 N326D probably benign Het
Other mutations in Sirt6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02673:Sirt6 APN 10 81625837 missense probably damaging 1.00
IGL03028:Sirt6 APN 10 81627541 unclassified probably benign
PIT4283001:Sirt6 UTSW 10 81622418 missense possibly damaging 0.95
R0927:Sirt6 UTSW 10 81622641 missense probably damaging 1.00
R1792:Sirt6 UTSW 10 81626521 missense possibly damaging 0.89
R4618:Sirt6 UTSW 10 81626574 missense probably damaging 1.00
R6154:Sirt6 UTSW 10 81626505 missense probably damaging 1.00
R7986:Sirt6 UTSW 10 81622510 missense probably benign 0.00
R8043:Sirt6 UTSW 10 81622406 critical splice donor site probably null
R8406:Sirt6 UTSW 10 81622494 missense probably benign 0.05
R8703:Sirt6 UTSW 10 81625714 critical splice donor site probably benign
R8963:Sirt6 UTSW 10 81626544 missense probably benign 0.16
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-06-26