Incidental Mutation 'R1103:Sesn1'
ID 98281
Institutional Source Beutler Lab
Gene Symbol Sesn1
Ensembl Gene ENSMUSG00000038332
Gene Name sestrin 1
Synonyms SEST1, 1110002G11Rik, PA26
MMRRC Submission 039176-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1103 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 41686570-41784432 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 41778589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 346 (R346L)
Ref Sequence ENSEMBL: ENSMUSP00000097515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041438] [ENSMUST00000099931]
AlphaFold P58006
Predicted Effect possibly damaging
Transcript: ENSMUST00000041438
AA Change: R287L

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000043034
Gene: ENSMUSG00000038332
AA Change: R287L

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
Pfam:PA26 45 492 5.4e-227 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000099931
AA Change: R346L

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097515
Gene: ENSMUSG00000038332
AA Change: R346L

DomainStartEndE-ValueType
Pfam:PA26 106 550 1.2e-212 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214835
Meta Mutation Damage Score 0.1228 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.7%
Validation Efficiency 97% (60/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik C T 1: 183,765,702 (GRCm39) S119N probably benign Het
4930524J08Rik G A 5: 100,126,980 (GRCm39) probably benign Het
Adam3 T A 8: 25,204,287 (GRCm39) probably benign Het
Adpgk A G 9: 59,221,079 (GRCm39) H295R probably damaging Het
Aftph A T 11: 20,676,547 (GRCm39) M199K probably benign Het
Ap2a1 C A 7: 44,553,593 (GRCm39) probably benign Het
Atpaf2 T C 11: 60,294,776 (GRCm39) I216V probably benign Het
Bag4 A T 8: 26,257,891 (GRCm39) probably benign Het
Bltp1 A T 3: 37,050,672 (GRCm39) M3003L probably benign Het
Bud23 T C 5: 135,089,993 (GRCm39) S67G probably damaging Het
Cfap157 A G 2: 32,671,410 (GRCm39) F132S probably damaging Het
Cngb3 G A 4: 19,309,658 (GRCm39) probably null Het
Cntnap5a A G 1: 116,508,399 (GRCm39) I1304V possibly damaging Het
Cp A G 3: 20,036,149 (GRCm39) K764E possibly damaging Het
Crebbp A G 16: 3,901,925 (GRCm39) V2438A probably damaging Het
Csmd3 A T 15: 47,811,402 (GRCm39) W1230R probably damaging Het
Cul1 G A 6: 47,494,111 (GRCm39) V475I probably benign Het
Dnttip2 T C 3: 122,070,071 (GRCm39) S429P probably benign Het
Dtwd1 T C 2: 125,996,643 (GRCm39) S43P probably damaging Het
Ect2l T C 10: 18,016,274 (GRCm39) T705A probably damaging Het
Erbin G T 13: 104,022,710 (GRCm39) T43N probably benign Het
Fcgbpl1 G T 7: 27,853,945 (GRCm39) L1636F probably damaging Het
Flt4 C T 11: 49,527,166 (GRCm39) probably benign Het
Gpr150 G T 13: 76,203,712 (GRCm39) P411Q probably damaging Het
Grap C A 11: 61,562,544 (GRCm39) Q172K probably benign Het
Ido2 G A 8: 25,066,239 (GRCm39) T9M probably benign Het
Klkb1 C A 8: 45,729,183 (GRCm39) C347F probably damaging Het
Klra17 G A 6: 129,845,806 (GRCm39) probably benign Het
Lama1 T C 17: 68,097,942 (GRCm39) L1774P probably damaging Het
Lhpp A T 7: 132,212,484 (GRCm39) D17V probably damaging Het
Lrfn4 T C 19: 4,663,299 (GRCm39) T412A probably benign Het
Lrrc7 C T 3: 157,854,343 (GRCm39) probably benign Het
Ltbp3 A T 19: 5,797,439 (GRCm39) probably null Het
Ltbp3 G C 19: 5,797,440 (GRCm39) probably null Het
Luzp1 T A 4: 136,268,041 (GRCm39) L88Q possibly damaging Het
Magi2 T C 5: 20,816,101 (GRCm39) I747T probably damaging Het
Map1b A T 13: 99,563,974 (GRCm39) probably benign Het
Map3k4 A T 17: 12,455,950 (GRCm39) probably null Het
Map3k5 C A 10: 19,899,422 (GRCm39) D226E probably benign Het
Mtf1 T A 4: 124,732,261 (GRCm39) S440T probably benign Het
Myo18a T A 11: 77,714,156 (GRCm39) L389Q probably damaging Het
Myom2 A G 8: 15,160,827 (GRCm39) D900G probably benign Het
Nfasc T C 1: 132,534,795 (GRCm39) probably benign Het
Obscn A T 11: 58,912,309 (GRCm39) S7044R probably damaging Het
Or5bw2 T A 7: 6,573,111 (GRCm39) N40K probably damaging Het
Or5e1 T C 7: 108,354,090 (GRCm39) V9A possibly damaging Het
Or6k4 T C 1: 173,964,457 (GRCm39) V49A probably benign Het
Pde4c T A 8: 71,201,066 (GRCm39) H421Q probably damaging Het
Pnmt G T 11: 98,278,502 (GRCm39) R156L probably benign Het
Pramel22 A C 4: 143,381,942 (GRCm39) C251W probably damaging Het
Rnf138 A G 18: 21,159,159 (GRCm39) E193G probably damaging Het
Setd4 G T 16: 93,382,082 (GRCm39) H390Q probably benign Het
Supt6 T C 11: 78,116,299 (GRCm39) E688G possibly damaging Het
Syne2 G A 12: 76,156,609 (GRCm39) D6802N probably benign Het
Syt16 A G 12: 74,313,672 (GRCm39) K533E probably damaging Het
Tg A T 15: 66,591,504 (GRCm39) Q26H probably benign Het
Trim33 G T 3: 103,218,201 (GRCm39) W250L probably damaging Het
Trip4 A G 9: 65,788,188 (GRCm39) C86R probably benign Het
Upf2 T A 2: 6,030,986 (GRCm39) C809S unknown Het
Vrk2 A G 11: 26,499,325 (GRCm39) F76L probably damaging Het
Zfp804a A G 2: 82,087,844 (GRCm39) T558A probably damaging Het
Other mutations in Sesn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00719:Sesn1 APN 10 41,774,321 (GRCm39) missense probably damaging 1.00
IGL01766:Sesn1 APN 10 41,774,365 (GRCm39) missense probably benign 0.00
R1557:Sesn1 UTSW 10 41,779,762 (GRCm39) missense probably damaging 1.00
R1587:Sesn1 UTSW 10 41,687,108 (GRCm39) missense probably benign
R2177:Sesn1 UTSW 10 41,779,778 (GRCm39) missense possibly damaging 0.73
R2437:Sesn1 UTSW 10 41,781,315 (GRCm39) missense probably damaging 1.00
R3915:Sesn1 UTSW 10 41,770,886 (GRCm39) missense probably benign 0.13
R4965:Sesn1 UTSW 10 41,771,005 (GRCm39) missense probably damaging 1.00
R5141:Sesn1 UTSW 10 41,687,097 (GRCm39) missense probably benign
R5257:Sesn1 UTSW 10 41,770,984 (GRCm39) missense probably benign 0.03
R5258:Sesn1 UTSW 10 41,770,984 (GRCm39) missense probably benign 0.03
R5639:Sesn1 UTSW 10 41,687,267 (GRCm39) missense probably benign
R5899:Sesn1 UTSW 10 41,687,189 (GRCm39) missense probably benign
R6024:Sesn1 UTSW 10 41,772,196 (GRCm39) missense probably damaging 0.99
R6310:Sesn1 UTSW 10 41,772,074 (GRCm39) missense probably damaging 1.00
R7181:Sesn1 UTSW 10 41,779,724 (GRCm39) missense possibly damaging 0.84
R7770:Sesn1 UTSW 10 41,770,054 (GRCm39) missense probably damaging 1.00
R7909:Sesn1 UTSW 10 41,687,112 (GRCm39) missense probably benign 0.03
R7996:Sesn1 UTSW 10 41,770,929 (GRCm39) nonsense probably null
R8728:Sesn1 UTSW 10 41,779,771 (GRCm39) missense probably damaging 1.00
R9032:Sesn1 UTSW 10 41,686,835 (GRCm39) unclassified probably benign
R9085:Sesn1 UTSW 10 41,686,835 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- ATTCACTGTAGCCATCCCAGCCAG -3'
(R):5'- AGGAGGAAAGCCCTTACAAGTAGCC -3'

Sequencing Primer
(F):5'- CTTACTTACCTGAACAAGTAGAAGC -3'
(R):5'- TTACAAGTAGCCTTCCTGAAAGGAC -3'
Posted On 2014-01-05