Incidental Mutation 'R3915:Sesn1'
ID 309602
Institutional Source Beutler Lab
Gene Symbol Sesn1
Ensembl Gene ENSMUSG00000038332
Gene Name sestrin 1
Synonyms SEST1, 1110002G11Rik, PA26
MMRRC Submission 040913-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3915 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 41809935-41908424 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 41894890 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 139 (R139H)
Ref Sequence ENSEMBL: ENSMUSP00000097515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041438] [ENSMUST00000099931]
AlphaFold P58006
Predicted Effect probably benign
Transcript: ENSMUST00000041438
AA Change: R80H

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000043034
Gene: ENSMUSG00000038332
AA Change: R80H

low complexity region 3 16 N/A INTRINSIC
Pfam:PA26 45 492 5.4e-227 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099931
AA Change: R139H

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000097515
Gene: ENSMUSG00000038332
AA Change: R139H

Pfam:PA26 106 550 1.2e-212 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214835
Meta Mutation Damage Score 0.0855 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 98% (43/44)
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. Sestrins are induced by the p53 tumor suppressor protein and play a role in the cellular response to DNA damage and oxidative stress. The encoded protein mediates p53 inhibition of cell growth by activating AMP-activated protein kinase, which results in the inhibition of the mammalian target of rapamycin protein. The encoded protein also plays a critical role in antioxidant defense by regenerating overoxidized peroxiredoxins, and the expression of this gene is a potential marker for exposure to radiation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a kncok-out allele exhibit enhanced responsiveness to an influenza vaccine in aged mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik G A 5: 3,577,248 V75I possibly damaging Het
AA986860 A G 1: 130,742,607 K189E probably benign Het
Abcf1 C T 17: 35,959,510 R596H possibly damaging Het
Axl T C 7: 25,760,744 probably benign Het
Birc6 A G 17: 74,579,608 K644E probably benign Het
Btbd11 C A 10: 85,632,270 H810N probably damaging Het
Btnl7-ps T A 17: 34,541,515 noncoding transcript Het
Car8 A T 4: 8,184,576 probably benign Het
Ccdc62 C T 5: 123,954,715 R588C probably damaging Het
Clasp2 T G 9: 113,908,737 S374A probably damaging Het
Ctnnb1 A G 9: 120,955,651 H503R probably benign Het
Cwf19l2 A G 9: 3,456,776 H703R probably damaging Het
Efcab7 A T 4: 99,878,173 Q133L probably damaging Het
Ehmt2 T C 17: 34,903,467 S280P probably damaging Het
Eomes A G 9: 118,481,273 M351V probably benign Het
Ets2 G A 16: 95,718,993 R421H probably damaging Het
Fam222b C G 11: 78,154,930 P439R probably benign Het
Gbp11 T A 5: 105,331,112 K153N probably damaging Het
Gm8989 A G 7: 106,330,238 S151P probably benign Het
Gm8994 A T 6: 136,329,422 T294S probably benign Het
Golim4 T C 3: 75,903,327 T174A probably damaging Het
Grid1 A G 14: 35,520,727 Y679C probably damaging Het
Ikzf3 T C 11: 98,490,586 D56G probably damaging Het
Kcnj16 A G 11: 111,025,556 D348G probably benign Het
Kidins220 T C 12: 25,053,958 L1319P possibly damaging Het
Lrp1b T A 2: 41,449,236 D751V probably damaging Het
Macc1 T C 12: 119,446,816 C440R probably benign Het
Mbd2 T C 18: 70,622,609 V382A probably benign Het
Olfr45 T A 7: 140,690,975 D23E probably benign Het
Olfr559 C T 7: 102,724,202 R96H possibly damaging Het
Olfr780 G A 10: 129,322,309 A229T probably benign Het
Pgs1 T G 11: 118,019,646 S528A probably benign Het
Pitpnm3 T C 11: 72,112,284 T67A probably damaging Het
Pnliprp2 T G 19: 58,760,362 V33G probably damaging Het
Ptn T C 6: 36,743,347 N90S probably damaging Het
Ptprt A T 2: 161,555,555 probably benign Het
Ranbp17 G A 11: 33,479,189 A352V probably benign Het
Rasgrp1 G A 2: 117,288,641 S505F probably damaging Het
Slc17a7 T A 7: 45,168,720 L23Q probably damaging Het
Slc30a10 G T 1: 185,455,136 E25* probably null Het
Smco1 A G 16: 32,273,765 I85V probably benign Het
Vmn1r76 A T 7: 11,930,569 S239R probably benign Het
Zc3h7a A T 16: 11,156,210 V237D possibly damaging Het
Other mutations in Sesn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00719:Sesn1 APN 10 41898325 missense probably damaging 1.00
IGL01766:Sesn1 APN 10 41898369 missense probably benign 0.00
R1103:Sesn1 UTSW 10 41902593 missense possibly damaging 0.94
R1557:Sesn1 UTSW 10 41903766 missense probably damaging 1.00
R1587:Sesn1 UTSW 10 41811112 missense probably benign
R2177:Sesn1 UTSW 10 41903782 missense possibly damaging 0.73
R2437:Sesn1 UTSW 10 41905319 missense probably damaging 1.00
R4965:Sesn1 UTSW 10 41895009 missense probably damaging 1.00
R5141:Sesn1 UTSW 10 41811101 missense probably benign
R5257:Sesn1 UTSW 10 41894988 missense probably benign 0.03
R5258:Sesn1 UTSW 10 41894988 missense probably benign 0.03
R5639:Sesn1 UTSW 10 41811271 missense probably benign
R5899:Sesn1 UTSW 10 41811193 missense probably benign
R6024:Sesn1 UTSW 10 41896200 missense probably damaging 0.99
R6310:Sesn1 UTSW 10 41896078 missense probably damaging 1.00
R7181:Sesn1 UTSW 10 41903728 missense possibly damaging 0.84
R7770:Sesn1 UTSW 10 41894058 missense probably damaging 1.00
R7909:Sesn1 UTSW 10 41811116 missense probably benign 0.03
R7996:Sesn1 UTSW 10 41894933 nonsense probably null
R8728:Sesn1 UTSW 10 41903775 missense probably damaging 1.00
R9032:Sesn1 UTSW 10 41810839 unclassified probably benign
R9085:Sesn1 UTSW 10 41810839 unclassified probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-04-17