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
Is this an essential gene? Possibly essential (E-score: 0.616) question?
Stock # IGL03028
Quality Score
Status
Chromosome 10
Chromosomal Location 81621785-81627797 bp(-) (GRCm38)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 81627541 bp (GRCm38)
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: 53,594,762 V86G probably benign Het
Adgra3 A T 5: 50,016,852 W115R probably benign Het
Ahr G A 12: 35,504,710 A470V probably benign Het
AI481877 A C 4: 59,094,274 I150S possibly damaging Het
Aoah A T 13: 20,816,582 Q62L possibly damaging Het
Arhgef12 A T 9: 43,026,228 D100E possibly damaging Het
Asic1 A G 15: 99,672,157 N120D probably benign Het
Atp2b2 A G 6: 113,759,142 L988P probably damaging Het
Atxn2 T A 5: 121,810,909 H789Q probably damaging Het
Clk1 G T 1: 58,421,102 S123* probably null Het
Col10a1 C T 10: 34,395,016 A328V probably benign Het
Col26a1 G T 5: 136,743,118 D415E possibly damaging Het
Ctla2a A G 13: 60,935,459 probably benign Het
Cwf19l2 A G 9: 3,430,622 E318G probably benign Het
Dnajc16 C T 4: 141,767,732 W523* probably null Het
Ehhadh T C 16: 21,762,394 E616G probably damaging Het
F5 A T 1: 164,193,000 K1015* probably null Het
Fam78a A G 2: 32,082,882 W9R possibly damaging Het
Frs2 A T 10: 117,073,933 M508K possibly damaging Het
Gm3164 A T 14: 4,440,111 M200L probably benign Het
Gm44511 T C 6: 128,780,395 S179G probably damaging Het
Gpr25 G A 1: 136,260,812 S21L probably benign Het
Hsdl2 A G 4: 59,594,471 D34G probably damaging Het
Kcnt1 A G 2: 25,909,203 probably null Het
Kl A G 5: 150,991,550 Y914C probably damaging Het
Map3k3 T G 11: 106,110,751 V45G probably damaging Het
Mppe1 A C 18: 67,227,684 C261W probably damaging Het
Nin T C 12: 70,035,270 T1640A probably benign Het
Olfr368 C T 2: 37,331,956 L70F probably damaging Het
Olfr483 T A 7: 108,104,173 M288K probably damaging Het
Olfr570 T A 7: 102,900,829 I154N possibly damaging Het
Olfr616 A G 7: 103,564,589 probably null Het
Olfr844 A T 9: 19,319,368 Y284F probably damaging Het
Oxr1 A G 15: 41,817,163 N166D probably damaging Het
Pank4 T A 4: 154,969,985 probably benign Het
Pgd A G 4: 149,161,627 probably null Het
Pitrm1 C T 13: 6,574,393 H831Y probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Rad51 A C 2: 119,116,314 M1L possibly damaging Het
Recql5 G T 11: 115,894,431 S746R possibly damaging Het
Rhbdl3 C T 11: 80,323,461 Q133* probably null Het
Rpp40 A T 13: 35,904,511 L59Q probably damaging Het
Rtca C A 3: 116,493,092 probably benign Het
Rtkn C T 6: 83,147,872 Q108* probably null Het
Slc9a4 G A 1: 40,610,377 V517M probably benign Het
Smarca2 G T 19: 26,678,312 probably benign Het
Snx33 A T 9: 56,926,451 D111E probably benign Het
Tgfb1 T C 7: 25,704,196 I311T probably damaging Het
Tgfb2 C T 1: 186,630,609 probably null Het
Tmem232 T C 17: 65,256,389 T670A probably benign Het
Tnfsf4 T C 1: 161,395,642 F21L possibly damaging Het
Ubr5 T C 15: 38,047,593 T47A probably benign Het
Unc79 T C 12: 103,173,526 V2515A possibly damaging Het
Utp6 T C 11: 79,953,624 K192E probably damaging Het
Vmn2r102 T C 17: 19,694,066 F631S possibly damaging Het
Zfp516 A C 18: 82,955,913 I79L possibly damaging Het
Other mutations in Sirt6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02673:Sirt6 APN 10 81625837 missense probably damaging 1.00
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
R7225:Sirt6 UTSW 10 81622481 missense probably benign
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
Posted On 2016-08-02