Incidental Mutation 'R4572:Sesn3'
ID 342200
Institutional Source Beutler Lab
Gene Symbol Sesn3
Ensembl Gene ENSMUSG00000032009
Gene Name sestrin 3
Synonyms 5630400E15Rik, SEST3
MMRRC Submission 041796-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4572 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 14187597-14237430 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 14232516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 263 (R263H)
Ref Sequence ENSEMBL: ENSMUSP00000146784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034507] [ENSMUST00000208222] [ENSMUST00000209187]
AlphaFold Q9CYP7
Predicted Effect probably benign
Transcript: ENSMUST00000034507
AA Change: R324H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034507
Gene: ENSMUSG00000032009
AA Change: R324H

low complexity region 6 12 N/A INTRINSIC
Pfam:PA26 39 491 8.4e-204 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207207
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208142
Predicted Effect probably benign
Transcript: ENSMUST00000208222
AA Change: R402H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209145
Predicted Effect probably benign
Transcript: ENSMUST00000209187
AA Change: R263H

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
Meta Mutation Damage Score 0.8565 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (71/71)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,107,374 (GRCm39) I747N probably benign Het
Adamtsl2 A G 2: 26,973,268 (GRCm39) Y97C probably damaging Het
Alox12e A G 11: 70,212,007 (GRCm39) probably benign Het
Alpk2 A T 18: 65,414,075 (GRCm39) S2014T probably damaging Het
Ankrd36 A T 11: 5,639,340 (GRCm39) probably null Het
Apobec1 T C 6: 122,558,356 (GRCm39) D133G probably damaging Het
Arfgef1 A T 1: 10,283,366 (GRCm39) I181N probably damaging Het
Cilp2 A G 8: 70,335,060 (GRCm39) V646A probably damaging Het
Clasrp A G 7: 19,318,389 (GRCm39) probably null Het
Cnot2 T C 10: 116,330,751 (GRCm39) T423A probably benign Het
Crtap T C 9: 114,213,874 (GRCm39) D227G probably benign Het
Cyp17a1 A G 19: 46,658,990 (GRCm39) F217S probably damaging Het
Ddx60 A G 8: 62,440,455 (GRCm39) M1036V probably damaging Het
Dnah11 A T 12: 117,973,860 (GRCm39) I2818N probably benign Het
Dok6 T A 18: 89,492,071 (GRCm39) I169F possibly damaging Het
Duox2 T A 2: 122,112,207 (GRCm39) R1326S probably benign Het
Epha10 A G 4: 124,796,361 (GRCm39) T357A unknown Het
Ephb2 A C 4: 136,383,251 (GRCm39) F942C probably damaging Het
Fscn3 T A 6: 28,430,634 (GRCm39) probably null Het
Gabrb2 A G 11: 42,484,744 (GRCm39) N267S possibly damaging Het
Gabrr3 A T 16: 59,282,001 (GRCm39) Y452F probably benign Het
Gen1 A G 12: 11,292,419 (GRCm39) S457P probably damaging Het
Gm1993 C T X: 25,515,656 (GRCm39) R77H probably damaging Het
Gm5592 G A 7: 40,865,583 (GRCm39) probably benign Het
Hmbox1 A G 14: 65,140,682 (GRCm39) probably null Het
Hus1 A T 11: 8,957,617 (GRCm39) probably null Het
Ino80 G A 2: 119,232,839 (GRCm39) R1160W probably damaging Het
Kalrn A T 16: 34,212,412 (GRCm39) F27L probably damaging Het
Kri1 A T 9: 21,191,680 (GRCm39) F187L probably damaging Het
Lekr1 A T 3: 65,691,336 (GRCm39) noncoding transcript Het
Mapk15 T C 15: 75,870,599 (GRCm39) probably benign Het
Mrgpre G A 7: 143,334,841 (GRCm39) L221F probably damaging Het
Mrpl50 A T 4: 49,514,399 (GRCm39) S91T possibly damaging Het
Muc4 T C 16: 32,753,802 (GRCm38) I1226T probably benign Het
Mup15 A G 4: 61,356,454 (GRCm39) probably null Het
Ncapd3 A G 9: 27,005,911 (GRCm39) D1469G probably damaging Het
Nlrp9b G A 7: 19,760,606 (GRCm39) probably null Het
Npy6r A T 18: 44,408,984 (GRCm39) Y135F probably benign Het
Or7e170 A C 9: 19,795,275 (GRCm39) C109G probably benign Het
Phf14 G A 6: 12,006,823 (GRCm39) R825Q probably damaging Het
Pigg A G 5: 108,480,751 (GRCm39) M379V probably benign Het
Plppr3 T A 10: 79,701,897 (GRCm39) Q315L probably benign Het
Plxnd1 C A 6: 115,932,717 (GRCm39) C1921F probably damaging Het
Ptger4 A C 15: 5,272,614 (GRCm39) S2A probably benign Het
Qrfprl A T 6: 65,431,975 (GRCm39) M293L probably benign Het
Rab4a A T 8: 124,560,799 (GRCm39) D196V probably benign Het
Rbck1 G A 2: 152,160,653 (GRCm39) Q428* probably null Het
Rgs14 A T 13: 55,527,875 (GRCm39) N266I probably damaging Het
Serpina1c A T 12: 103,864,967 (GRCm39) probably benign Het
Slfn1 A T 11: 83,012,289 (GRCm39) D135V probably benign Het
Spata17 T C 1: 186,926,193 (GRCm39) K46E possibly damaging Het
Srcin1 A C 11: 97,425,760 (GRCm39) D432E probably damaging Het
Stxbp5 T C 10: 9,713,888 (GRCm39) E217G probably damaging Het
Terf2ip A G 8: 112,738,649 (GRCm39) D179G probably damaging Het
Tll1 A G 8: 64,509,343 (GRCm39) F556L possibly damaging Het
Tmed4 CTCTTTCT CTCT 11: 6,224,461 (GRCm39) probably null Het
Trappc9 G T 15: 72,808,916 (GRCm39) Q537K possibly damaging Het
Trim30a G T 7: 104,060,395 (GRCm39) C460* probably null Het
Trim35 T C 14: 66,545,322 (GRCm39) Y298H probably damaging Het
Ugt3a1 T A 15: 9,306,479 (GRCm39) H209Q probably benign Het
Ulk4 T C 9: 121,021,830 (GRCm39) K627R probably damaging Het
Wnk1 T C 6: 119,928,872 (GRCm39) T1319A possibly damaging Het
Wnt9b G A 11: 103,622,981 (GRCm39) R141C probably damaging Het
Zfp735 A G 11: 73,580,611 (GRCm39) M37V probably benign Het
Zmym1 A T 4: 126,944,628 (GRCm39) N186K probably benign Het
Other mutations in Sesn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00970:Sesn3 APN 9 14,232,438 (GRCm39) missense probably damaging 1.00
IGL01396:Sesn3 APN 9 14,232,374 (GRCm39) missense probably benign 0.43
IGL01925:Sesn3 APN 9 14,231,696 (GRCm39) missense probably damaging 1.00
IGL02016:Sesn3 APN 9 14,231,633 (GRCm39) missense probably damaging 1.00
IGL02498:Sesn3 APN 9 14,217,564 (GRCm39) splice site probably benign
IGL02892:Sesn3 APN 9 14,226,030 (GRCm39) critical splice donor site probably null
IGL02933:Sesn3 APN 9 14,232,504 (GRCm39) missense probably damaging 1.00
IGL03112:Sesn3 APN 9 14,221,557 (GRCm39) missense probably damaging 1.00
R0591:Sesn3 UTSW 9 14,219,854 (GRCm39) missense probably damaging 0.96
R1450:Sesn3 UTSW 9 14,227,520 (GRCm39) missense possibly damaging 0.80
R1495:Sesn3 UTSW 9 14,219,817 (GRCm39) missense probably damaging 0.98
R1897:Sesn3 UTSW 9 14,219,941 (GRCm39) missense probably damaging 1.00
R2237:Sesn3 UTSW 9 14,219,761 (GRCm39) missense probably benign
R2238:Sesn3 UTSW 9 14,219,761 (GRCm39) missense probably benign
R4209:Sesn3 UTSW 9 14,217,505 (GRCm39) missense probably benign 0.12
R4352:Sesn3 UTSW 9 14,231,669 (GRCm39) missense probably damaging 0.99
R4535:Sesn3 UTSW 9 14,233,954 (GRCm39) missense probably benign 0.05
R6261:Sesn3 UTSW 9 14,232,459 (GRCm39) missense probably benign 0.27
R6304:Sesn3 UTSW 9 14,233,857 (GRCm39) critical splice acceptor site probably null
R6556:Sesn3 UTSW 9 14,232,549 (GRCm39) missense possibly damaging 0.95
R6741:Sesn3 UTSW 9 14,231,636 (GRCm39) missense possibly damaging 0.72
R6906:Sesn3 UTSW 9 14,236,937 (GRCm39) missense probably damaging 0.98
R6988:Sesn3 UTSW 9 14,221,553 (GRCm39) nonsense probably null
R7289:Sesn3 UTSW 9 14,187,848 (GRCm39) start codon destroyed probably benign
R7318:Sesn3 UTSW 9 14,219,873 (GRCm39) missense probably damaging 0.96
R7646:Sesn3 UTSW 9 14,219,911 (GRCm39) missense probably damaging 1.00
R8768:Sesn3 UTSW 9 14,225,964 (GRCm39) missense probably damaging 1.00
R8823:Sesn3 UTSW 9 14,221,536 (GRCm39) intron probably benign
R8923:Sesn3 UTSW 9 14,217,562 (GRCm39) critical splice donor site probably null
R9336:Sesn3 UTSW 9 14,225,850 (GRCm39) missense probably damaging 1.00
R9647:Sesn3 UTSW 9 14,225,999 (GRCm39) missense probably benign 0.12
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-09-24