Incidental Mutation 'R5141:Sesn1'
ID 396479
Institutional Source Beutler Lab
Gene Symbol Sesn1
Ensembl Gene ENSMUSG00000038332
Gene Name sestrin 1
Synonyms SEST1, 1110002G11Rik, PA26
MMRRC Submission 042727-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5141 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 41686570-41784432 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41687097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 27 (N27S)
Ref Sequence ENSEMBL: ENSMUSP00000097515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019951] [ENSMUST00000099931] [ENSMUST00000186239] [ENSMUST00000187143] [ENSMUST00000191498] [ENSMUST00000190022] [ENSMUST00000189770]
AlphaFold P58006
Predicted Effect probably benign
Transcript: ENSMUST00000019951
SMART Domains Protein: ENSMUSP00000019951
Gene: ENSMUSG00000019813

DomainStartEndE-ValueType
Pfam:Cep57_CLD 50 227 1.2e-64 PFAM
low complexity region 234 245 N/A INTRINSIC
Pfam:Cep57_MT_bd 283 356 2.5e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099931
AA Change: N27S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097515
Gene: ENSMUSG00000038332
AA Change: N27S

DomainStartEndE-ValueType
Pfam:PA26 106 550 1.2e-212 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186239
SMART Domains Protein: ENSMUSP00000139509
Gene: ENSMUSG00000019813

DomainStartEndE-ValueType
Pfam:Cep57_CLD 50 227 2.3e-72 PFAM
low complexity region 234 245 N/A INTRINSIC
Pfam:Cep57_MT_bd 281 356 1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000187143
SMART Domains Protein: ENSMUSP00000140389
Gene: ENSMUSG00000019813

DomainStartEndE-ValueType
Pfam:Cep57_CLD 50 223 1.1e-66 PFAM
Pfam:Cep57_MT_bd 252 327 6.8e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189222
Predicted Effect probably benign
Transcript: ENSMUST00000191498
SMART Domains Protein: ENSMUSP00000141089
Gene: ENSMUSG00000019813

DomainStartEndE-ValueType
Pfam:Cep57_CLD 50 229 1.9e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215496
Predicted Effect probably benign
Transcript: ENSMUST00000190022
SMART Domains Protein: ENSMUSP00000141031
Gene: ENSMUSG00000019813

DomainStartEndE-ValueType
Pfam:Cep57_CLD 45 151 6.6e-38 PFAM
low complexity region 158 169 N/A INTRINSIC
Pfam:Cep57_MT_bd 205 280 1e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189770
SMART Domains Protein: ENSMUSP00000140147
Gene: ENSMUSG00000019813

DomainStartEndE-ValueType
Pfam:Cep57_CLD 50 223 1.1e-66 PFAM
Pfam:Cep57_MT_bd 252 327 6.8e-22 PFAM
Meta Mutation Damage Score 0.0637 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 96% (76/79)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 A G 14: 68,810,577 (GRCm39) V193A probably benign Het
Adamts18 T A 8: 114,501,902 (GRCm39) T320S probably damaging Het
Adamtsl1 G T 4: 86,075,087 (GRCm39) M151I possibly damaging Het
Adgrv1 A T 13: 81,419,037 (GRCm39) V5986E probably damaging Het
Aifm3 A G 16: 17,317,586 (GRCm39) E69G probably damaging Het
Akap13 C A 7: 75,259,362 (GRCm39) T662K probably benign Het
Alms1 A G 6: 85,598,414 (GRCm39) D1080G probably benign Het
Als2 T C 1: 59,209,611 (GRCm39) E1457G possibly damaging Het
Apobec4 A G 1: 152,631,964 (GRCm39) probably benign Het
Apoo-ps C T 13: 107,550,895 (GRCm39) noncoding transcript Het
Aspscr1 G A 11: 120,580,003 (GRCm39) V181I probably benign Het
Atrn T C 2: 130,841,050 (GRCm39) probably benign Het
C3 T A 17: 57,526,570 (GRCm39) I804F probably damaging Het
Cbfa2t3 C T 8: 123,361,760 (GRCm39) G421R probably benign Het
Chmp4c A G 3: 10,432,213 (GRCm39) E41G probably damaging Het
Clk4 T A 11: 51,166,598 (GRCm39) F96L possibly damaging Het
Ctsg G A 14: 56,339,184 (GRCm39) R25* probably null Het
Cul1 A G 6: 47,497,773 (GRCm39) D618G probably benign Het
Cylc2 T C 4: 51,228,587 (GRCm39) probably benign Het
Dip2a G A 10: 76,106,287 (GRCm39) T1326I probably damaging Het
Etnk2 A G 1: 133,296,600 (GRCm39) I210V probably benign Het
Gm5773 T A 3: 93,681,034 (GRCm39) D235E probably benign Het
Gm7353 T C 7: 3,161,001 (GRCm39) noncoding transcript Het
Gpi1 G A 7: 33,926,521 (GRCm39) probably benign Het
Ing4 T C 6: 125,016,837 (GRCm39) M5T probably benign Het
Inpp4a A G 1: 37,419,168 (GRCm39) I583V probably benign Het
Isyna1 T C 8: 71,047,543 (GRCm39) V64A probably damaging Het
Katnal2 T A 18: 77,085,337 (GRCm39) D310V probably damaging Het
Kbtbd8 A G 6: 95,098,820 (GRCm39) T126A probably damaging Het
Kif13a T C 13: 46,906,197 (GRCm39) D582G probably benign Het
Lmf2 G A 15: 89,235,810 (GRCm39) probably null Het
Lrp2 T C 2: 69,382,693 (GRCm39) probably null Het
Lrp4 T C 2: 91,309,023 (GRCm39) probably benign Het
Lyzl1 A C 18: 4,169,209 (GRCm39) D71A possibly damaging Het
Mak C T 13: 41,186,039 (GRCm39) C543Y possibly damaging Het
Mapk8ip1 T C 2: 92,217,110 (GRCm39) D404G probably damaging Het
Mdga1 C T 17: 30,071,467 (GRCm39) E385K probably benign Het
Mst1r T A 9: 107,789,440 (GRCm39) I573N probably damaging Het
Muc5ac T A 7: 141,368,479 (GRCm39) N2365K possibly damaging Het
Ncan T C 8: 70,565,487 (GRCm39) E179G probably damaging Het
Nlgn2 C T 11: 69,716,216 (GRCm39) R775H probably damaging Het
Or10d5 T G 9: 39,861,170 (GRCm39) K299T probably benign Het
Or4c122 A C 2: 89,079,473 (GRCm39) Y176* probably null Het
Or8g20 A G 9: 39,395,827 (GRCm39) F238L probably damaging Het
Pcolce G T 5: 137,604,012 (GRCm39) Q352K probably benign Het
Peg3 G T 7: 6,712,381 (GRCm39) T947N probably benign Het
Pld3 C T 7: 27,233,220 (GRCm39) D344N probably damaging Het
Plec A C 15: 76,074,733 (GRCm39) D411E probably damaging Het
Pmp2 C T 3: 10,247,474 (GRCm39) D72N probably benign Het
Ptpn9 T C 9: 56,943,960 (GRCm39) V278A possibly damaging Het
Rbm33 A G 5: 28,557,687 (GRCm39) H300R probably damaging Het
Rpgrip1l T C 8: 91,987,546 (GRCm39) Q837R probably benign Het
Rwdd4a T C 8: 48,003,709 (GRCm39) probably benign Het
Sema6a T C 18: 47,381,455 (GRCm39) T1048A probably damaging Het
Senp1 G A 15: 97,974,488 (GRCm39) A108V probably benign Het
Serpine2 G T 1: 79,780,580 (GRCm39) Q290K possibly damaging Het
Shroom1 T A 11: 53,354,809 (GRCm39) L243* probably null Het
Slc17a5 A G 9: 78,448,270 (GRCm39) Y395H probably damaging Het
Slc5a8 T C 10: 88,755,422 (GRCm39) probably null Het
Sptbn5 G A 2: 119,892,212 (GRCm39) S1083F probably benign Het
Stx4a T A 7: 127,445,787 (GRCm39) V231E probably damaging Het
Swt1 A T 1: 151,287,145 (GRCm39) S116T probably benign Het
Syt9 C T 7: 107,103,426 (GRCm39) T408I probably damaging Het
Tgm7 T C 2: 120,931,480 (GRCm39) T228A probably benign Het
Tmem115 A G 9: 107,415,141 (GRCm39) D310G probably benign Het
Trcg1 G A 9: 57,148,587 (GRCm39) G53D probably damaging Het
Tsfm T C 10: 126,865,482 (GRCm39) K100E probably damaging Het
Usp1 A G 4: 98,822,446 (GRCm39) T587A probably damaging Het
Vcpip1 G T 1: 9,818,302 (GRCm39) A27E unknown Het
Vmn2r49 T C 7: 9,720,300 (GRCm39) N397S probably benign Het
Vmn2r8 A G 5: 108,956,572 (GRCm39) S17P probably damaging Het
Vwa3b A G 1: 37,226,102 (GRCm39) probably benign Het
Ythdc2 T A 18: 44,998,114 (GRCm39) S1094T probably benign Het
Zbtb22 C G 17: 34,137,610 (GRCm39) S585C possibly damaging Het
Zhx2 A G 15: 57,685,182 (GRCm39) T184A probably benign 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
R1103:Sesn1 UTSW 10 41,778,589 (GRCm39) missense possibly damaging 0.94
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
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'- TTCACGACGGCTGGATTTCTC -3'
(R):5'- CTCTCTCGCACATCTTTAAAGGG -3'

Sequencing Primer
(F):5'- ACGGCTGGATTTCTCTGACTTTATTC -3'
(R):5'- TCTCGCACATCTTTAAAGGGACATC -3'
Posted On 2016-06-21