Incidental Mutation 'IGL03028:Sirt6'
ID 408308
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sirt6
Ensembl Gene ENSMUSG00000034748
Gene Name sirtuin 6
Synonyms 2810449N18Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.372) question?
Stock # IGL03028
Quality Score
Status
Chromosome 10
Chromosomal Location 81457621-81463631 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 81463375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042923] [ENSMUST00000119324] [ENSMUST00000119336] [ENSMUST00000123896] [ENSMUST00000129622] [ENSMUST00000143424] [ENSMUST00000153573]
AlphaFold P59941
Predicted Effect probably benign
Transcript: ENSMUST00000042923
SMART Domains Protein: ENSMUSP00000048971
Gene: ENSMUSG00000034748

DomainStartEndE-ValueType
Pfam:SIR2 52 81 1.1e-7 PFAM
Pfam:SIR2 80 221 5.2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119324
SMART Domains Protein: ENSMUSP00000113953
Gene: ENSMUSG00000034748

DomainStartEndE-ValueType
Pfam:SIR2 12 48 2.1e-7 PFAM
Pfam:SIR2 41 181 4.8e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119336
SMART Domains Protein: ENSMUSP00000112932
Gene: ENSMUSG00000054708

DomainStartEndE-ValueType
Blast:ANK 18 48 1e-6 BLAST
ANK 52 81 2.92e-2 SMART
ANK 85 114 7.53e-5 SMART
ANK 118 149 4.07e-1 SMART
ANK 151 180 2.92e-2 SMART
ANK 184 213 3.97e-4 SMART
low complexity region 240 250 N/A INTRINSIC
low complexity region 269 283 N/A INTRINSIC
internal_repeat_2 488 606 4.87e-8 PROSPERO
internal_repeat_2 597 713 4.87e-8 PROSPERO
low complexity region 718 736 N/A INTRINSIC
coiled coil region 747 895 N/A INTRINSIC
Blast:ANK 950 977 3e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000123896
SMART Domains Protein: ENSMUSP00000116603
Gene: ENSMUSG00000054708

DomainStartEndE-ValueType
ANK 23 54 4.07e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126477
Predicted Effect probably benign
Transcript: ENSMUST00000129622
Predicted Effect probably benign
Transcript: ENSMUST00000143424
SMART Domains Protein: ENSMUSP00000118238
Gene: ENSMUSG00000034748

DomainStartEndE-ValueType
Pfam:SIR2 12 50 1.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153573
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 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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 A C 9: 53,506,062 (GRCm39) V86G probably benign Het
Adgra3 A T 5: 50,174,194 (GRCm39) W115R probably benign Het
Ahr G A 12: 35,554,709 (GRCm39) A470V probably benign Het
Aoah A T 13: 21,000,752 (GRCm39) Q62L possibly damaging Het
Arhgef12 A T 9: 42,937,524 (GRCm39) D100E possibly damaging Het
Asic1 A G 15: 99,570,038 (GRCm39) N120D probably benign Het
Atp2b2 A G 6: 113,736,103 (GRCm39) L988P probably damaging Het
Atxn2 T A 5: 121,948,972 (GRCm39) H789Q probably damaging Het
Clk1 G T 1: 58,460,261 (GRCm39) S123* probably null Het
Col10a1 C T 10: 34,271,012 (GRCm39) A328V probably benign Het
Col26a1 G T 5: 136,771,972 (GRCm39) D415E possibly damaging Het
Ctla2a A G 13: 61,083,273 (GRCm39) probably benign Het
Cwf19l2 A G 9: 3,430,622 (GRCm39) E318G probably benign Het
Dnajc16 C T 4: 141,495,043 (GRCm39) W523* probably null Het
Ehhadh T C 16: 21,581,144 (GRCm39) E616G probably damaging Het
F5 A T 1: 164,020,569 (GRCm39) K1015* probably null Het
Fam78a A G 2: 31,972,894 (GRCm39) W9R possibly damaging Het
Frs2 A T 10: 116,909,838 (GRCm39) M508K possibly damaging Het
Gm3164 A T 14: 4,440,111 (GRCm38) M200L probably benign Het
Gm44511 T C 6: 128,757,358 (GRCm39) S179G probably damaging Het
Gpr25 G A 1: 136,188,550 (GRCm39) S21L probably benign Het
Hsdl2 A G 4: 59,594,471 (GRCm39) D34G probably damaging Het
Kcnt1 A G 2: 25,799,215 (GRCm39) probably null Het
Kl A G 5: 150,915,015 (GRCm39) Y914C probably damaging Het
Map3k3 T G 11: 106,001,577 (GRCm39) V45G probably damaging Het
Mppe1 A C 18: 67,360,755 (GRCm39) C261W probably damaging Het
Nin T C 12: 70,082,044 (GRCm39) T1640A probably benign Het
Or51a8 T A 7: 102,550,036 (GRCm39) I154N possibly damaging Het
Or51ac3 A G 7: 103,213,796 (GRCm39) probably null Het
Or5c1 C T 2: 37,221,968 (GRCm39) L70F probably damaging Het
Or5p59 T A 7: 107,703,380 (GRCm39) M288K probably damaging Het
Or7g26 A T 9: 19,230,664 (GRCm39) Y284F probably damaging Het
Oxr1 A G 15: 41,680,559 (GRCm39) N166D probably damaging Het
Pank4 T A 4: 155,054,442 (GRCm39) probably benign Het
Pgd A G 4: 149,246,084 (GRCm39) probably null Het
Pitrm1 C T 13: 6,624,429 (GRCm39) H831Y probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Rad51 A C 2: 118,946,795 (GRCm39) M1L possibly damaging Het
Recql5 G T 11: 115,785,257 (GRCm39) S746R possibly damaging Het
Rhbdl3 C T 11: 80,214,287 (GRCm39) Q133* probably null Het
Rpp40 A T 13: 36,088,494 (GRCm39) L59Q probably damaging Het
Rtca C A 3: 116,286,741 (GRCm39) probably benign Het
Rtkn C T 6: 83,124,853 (GRCm39) Q108* probably null Het
Shoc1 A C 4: 59,094,274 (GRCm39) I150S possibly damaging Het
Slc9a4 G A 1: 40,649,537 (GRCm39) V517M probably benign Het
Smarca2 G T 19: 26,655,712 (GRCm39) probably benign Het
Snx33 A T 9: 56,833,735 (GRCm39) D111E probably benign Het
Tgfb1 T C 7: 25,403,621 (GRCm39) I311T probably damaging Het
Tgfb2 C T 1: 186,362,806 (GRCm39) probably null Het
Tmem232 T C 17: 65,563,384 (GRCm39) T670A probably benign Het
Tnfsf4 T C 1: 161,223,213 (GRCm39) F21L possibly damaging Het
Ubr5 T C 15: 38,047,837 (GRCm39) T47A probably benign Het
Unc79 T C 12: 103,139,785 (GRCm39) V2515A possibly damaging Het
Utp6 T C 11: 79,844,450 (GRCm39) K192E probably damaging Het
Vmn2r102 T C 17: 19,914,328 (GRCm39) F631S possibly damaging Het
Zfp516 A C 18: 82,974,038 (GRCm39) I79L possibly damaging Het
Other mutations in Sirt6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02673:Sirt6 APN 10 81,461,671 (GRCm39) missense probably damaging 1.00
PIT4283001:Sirt6 UTSW 10 81,458,252 (GRCm39) missense possibly damaging 0.95
R0927:Sirt6 UTSW 10 81,458,475 (GRCm39) missense probably damaging 1.00
R1792:Sirt6 UTSW 10 81,462,355 (GRCm39) missense possibly damaging 0.89
R4618:Sirt6 UTSW 10 81,462,408 (GRCm39) missense probably damaging 1.00
R6154:Sirt6 UTSW 10 81,462,339 (GRCm39) missense probably damaging 1.00
R7225:Sirt6 UTSW 10 81,458,315 (GRCm39) missense probably benign
R7986:Sirt6 UTSW 10 81,458,344 (GRCm39) missense probably benign 0.00
R8043:Sirt6 UTSW 10 81,458,240 (GRCm39) critical splice donor site probably null
R8406:Sirt6 UTSW 10 81,458,328 (GRCm39) missense probably benign 0.05
R8703:Sirt6 UTSW 10 81,461,548 (GRCm39) critical splice donor site probably benign
R8963:Sirt6 UTSW 10 81,462,378 (GRCm39) missense probably benign 0.16
Posted On 2016-08-02