Incidental Mutation 'R4535:Sesn3'
Institutional Source Beutler Lab
Gene Symbol Sesn3
Ensembl Gene ENSMUSG00000032009
Gene Namesestrin 3
Synonyms5630400E15Rik, SEST3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4535 (G1)
Quality Score225
Status Not validated
Chromosomal Location14275067-14333101 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 14322658 bp
Amino Acid Change Threonine to Lysine at position 309 (T309K)
Ref Sequence ENSEMBL: ENSMUSP00000146784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034507] [ENSMUST00000208222] [ENSMUST00000209187]
Predicted Effect probably benign
Transcript: ENSMUST00000034507
AA Change: T370K

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000034507
Gene: ENSMUSG00000032009
AA Change: T370K

low complexity region 6 12 N/A INTRINSIC
Pfam:PA26 39 491 8.4e-204 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208142
Predicted Effect probably benign
Transcript: ENSMUST00000208222
AA Change: T448K

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209145
Predicted Effect probably benign
Transcript: ENSMUST00000209187
AA Change: T309K

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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 sestrin family of stress-induced proteins. The encoded protein reduces the levels of intracellular reactive oxygen species induced by activated Ras downstream of RAC-alpha serine/threonine-protein kinase (Akt) and FoxO transcription factor. The protein is required for normal regulation of blood glucose, insulin resistance and plays a role in lipid storage in obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]
PHENOTYPE: When fed a high fat diet, mice homozygous for a gene trap allele exhibit impaired glucose tolerance, insulin resistance, reduced hepatic glucose production, impaired adipocyte glucose uptake, increased hepatic steatosis, and decreased mitochondria in the liver. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef4 T C 1: 34,723,081 S473P unknown Het
Azin1 A T 15: 38,493,605 I258N probably benign Het
Bod1l G A 5: 41,832,231 A383V probably benign Het
Carmil3 GGACGA GGA 14: 55,499,476 probably benign Het
Cd200r3 T A 16: 44,954,189 D188E probably benign Het
Cd4 A T 6: 124,870,451 F250Y probably benign Het
Clcn4 T A 7: 7,287,814 Y662F probably benign Het
Cpa2 T C 6: 30,552,021 V249A probably benign Het
Dhx57 A G 17: 80,275,082 Y365H probably damaging Het
Dsg1c A G 18: 20,275,265 E457G probably benign Het
Eef2k T A 7: 120,858,599 Y60* probably null Het
Efcc1 A G 6: 87,753,151 D482G probably null Het
Exoc4 C T 6: 33,277,244 R112C probably damaging Het
Fam178b A T 1: 36,600,525 D293E probably benign Het
Fbxl21 G A 13: 56,527,060 V49I probably damaging Het
Fyco1 A G 9: 123,838,888 V91A probably damaging Het
H2-M10.4 T C 17: 36,461,844 E82G probably damaging Het
Hmcn1 A G 1: 150,563,780 I5434T probably damaging Het
Hormad1 T C 3: 95,585,141 V343A probably benign Het
Incenp T C 19: 9,883,939 N450S unknown Het
Iqsec3 T C 6: 121,380,018 K1035E possibly damaging Het
Ltn1 A T 16: 87,426,286 V102D probably damaging Het
Mcur1 T C 13: 43,544,540 T295A probably damaging Het
Mpp5 A T 12: 78,824,837 D397V possibly damaging Het
Pcdha3 T C 18: 36,947,960 V585A probably damaging Het
Plcd4 A G 1: 74,563,468 T594A probably damaging Het
Ppp1r3c T C 19: 36,734,122 K83E probably damaging Het
Slc38a3 T C 9: 107,656,206 N251S probably benign Het
Sptbn4 A G 7: 27,367,702 V614A probably damaging Het
Srsf4 A G 4: 131,873,864 K34R probably damaging Het
Tfpi2 T C 6: 3,968,044 N32S possibly damaging Het
Ttll2 A T 17: 7,351,721 I269N probably benign Het
Utp3 T C 5: 88,555,599 V329A probably benign Het
Vmn2r102 A G 17: 19,694,713 T847A probably benign Het
Vmn2r70 A T 7: 85,565,333 W204R probably damaging Het
Xrcc3 A G 12: 111,804,532 L321P probably damaging Het
Other mutations in Sesn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00970:Sesn3 APN 9 14321142 missense probably damaging 1.00
IGL01396:Sesn3 APN 9 14321078 missense probably benign 0.43
IGL01925:Sesn3 APN 9 14320400 missense probably damaging 1.00
IGL02016:Sesn3 APN 9 14320337 missense probably damaging 1.00
IGL02498:Sesn3 APN 9 14306268 splice site probably benign
IGL02892:Sesn3 APN 9 14314734 critical splice donor site probably null
IGL02933:Sesn3 APN 9 14321208 missense probably damaging 1.00
IGL03112:Sesn3 APN 9 14310261 missense probably damaging 1.00
R0591:Sesn3 UTSW 9 14308558 missense probably damaging 0.96
R1450:Sesn3 UTSW 9 14316224 missense possibly damaging 0.80
R1495:Sesn3 UTSW 9 14308521 missense probably damaging 0.98
R1897:Sesn3 UTSW 9 14308645 missense probably damaging 1.00
R2237:Sesn3 UTSW 9 14308465 missense probably benign
R2238:Sesn3 UTSW 9 14308465 missense probably benign
R4209:Sesn3 UTSW 9 14306209 missense probably benign 0.12
R4352:Sesn3 UTSW 9 14320373 missense probably damaging 0.99
R4572:Sesn3 UTSW 9 14321220 missense probably benign 0.03
R6261:Sesn3 UTSW 9 14321163 missense probably benign 0.27
R6304:Sesn3 UTSW 9 14322561 critical splice acceptor site probably null
R6556:Sesn3 UTSW 9 14321253 missense possibly damaging 0.95
R6741:Sesn3 UTSW 9 14320340 missense possibly damaging 0.72
R6906:Sesn3 UTSW 9 14325641 missense probably damaging 0.98
R6988:Sesn3 UTSW 9 14310257 nonsense probably null
R7289:Sesn3 UTSW 9 14276552 start codon destroyed probably benign
R7318:Sesn3 UTSW 9 14308577 missense probably damaging 0.96
R7646:Sesn3 UTSW 9 14308615 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-08-18