Incidental Mutation 'R2177:Sesn1'
ID 236952
Institutional Source Beutler Lab
Gene Symbol Sesn1
Ensembl Gene ENSMUSG00000038332
Gene Name sestrin 1
Synonyms SEST1, 1110002G11Rik, PA26
MMRRC Submission 040179-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2177 (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 41779778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 345 (H345R)
Ref Sequence ENSEMBL: ENSMUSP00000043034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041438] [ENSMUST00000099931]
AlphaFold P58006
Predicted Effect possibly damaging
Transcript: ENSMUST00000041438
AA Change: H345R

PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000043034
Gene: ENSMUSG00000038332
AA Change: H345R

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: H404R

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097515
Gene: ENSMUSG00000038332
AA Change: H404R

DomainStartEndE-ValueType
Pfam:PA26 106 550 1.2e-212 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214835
Meta Mutation Damage Score 0.0999 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T A 5: 88,120,312 (GRCm39) N356K probably damaging Het
Acap2 C T 16: 30,952,346 (GRCm39) probably null Het
Adamts19 T C 18: 59,087,626 (GRCm39) L552P possibly damaging Het
Adamts2 T A 11: 50,668,055 (GRCm39) M539K probably damaging Het
Aplp1 A T 7: 30,141,946 (GRCm39) C210* probably null Het
Apoa1 A T 9: 46,141,371 (GRCm39) K156* probably null Het
AW551984 G A 9: 39,511,111 (GRCm39) R159C probably benign Het
Bok C T 1: 93,622,787 (GRCm39) Q112* probably null Het
Cemip2 T C 19: 21,789,149 (GRCm39) S528P possibly damaging Het
Cfap57 T G 4: 118,463,885 (GRCm39) I323L probably benign Het
Cfap69 T A 5: 5,675,803 (GRCm39) E270D probably damaging Het
Ch25h G T 19: 34,452,097 (GRCm39) L144M probably damaging Het
Clcn6 T A 4: 148,099,057 (GRCm39) I429F possibly damaging Het
Cpb1 T A 3: 20,320,611 (GRCm39) T115S probably benign Het
Csf1r T A 18: 61,248,015 (GRCm39) probably benign Het
Ddx6 A G 9: 44,539,028 (GRCm39) T279A probably damaging Het
Dnah8 A G 17: 30,872,367 (GRCm39) H452R probably benign Het
Dscam T A 16: 96,411,524 (GRCm39) D1784V probably damaging Het
Exo1 T A 1: 175,710,456 (GRCm39) probably null Het
Fcho1 A G 8: 72,164,905 (GRCm39) S459P probably damaging Het
Fxyd4 C T 6: 117,911,393 (GRCm39) A56T probably damaging Het
Gbf1 T C 19: 46,254,109 (GRCm39) S599P probably benign Het
Iqce T C 5: 140,677,348 (GRCm39) probably benign Het
Kat2a A G 11: 100,601,648 (GRCm39) F256L probably damaging Het
Klk1b1 G T 7: 43,618,695 (GRCm39) R24L possibly damaging Het
Krtap16-1 A G 11: 99,877,275 (GRCm39) V43A probably damaging Het
Maea C G 5: 33,529,034 (GRCm39) Q326E probably benign Het
Man1a2 A T 3: 100,539,847 (GRCm39) I308N probably damaging Het
Marf1 G T 16: 13,970,471 (GRCm39) R83S probably benign Het
Me3 A C 7: 89,282,278 (GRCm39) T54P probably benign Het
Mme A T 3: 63,208,426 (GRCm39) I63L probably benign Het
Mmel1 A G 4: 154,978,560 (GRCm39) N664S probably damaging Het
Mrgprb2 A G 7: 48,202,128 (GRCm39) V199A probably benign Het
Mrpl36 T A 13: 73,479,588 (GRCm39) F33I probably benign Het
Nlrp4e A T 7: 23,054,686 (GRCm39) T947S probably benign Het
Or14c45 G A 7: 86,176,870 (GRCm39) V302I probably benign Het
Or4b1d T A 2: 89,968,808 (GRCm39) H225L possibly damaging Het
Or8b55 A T 9: 38,727,482 (GRCm39) I228F possibly damaging Het
Parp4 A T 14: 56,896,746 (GRCm39) R1923S unknown Het
Pcm1 T C 8: 41,729,002 (GRCm39) V658A probably benign Het
Pkhd1l1 A G 15: 44,322,791 (GRCm39) S26G probably benign Het
Prom1 A T 5: 44,184,081 (GRCm39) H433Q possibly damaging Het
Rab7 T C 6: 87,982,063 (GRCm39) D104G probably damaging Het
Rabgap1l A G 1: 160,551,632 (GRCm39) V282A possibly damaging Het
Rdh13 T C 7: 4,430,666 (GRCm39) E264G possibly damaging Het
Rock1 C G 18: 10,070,263 (GRCm39) R1270T probably benign Het
Sdhaf4 C T 1: 24,035,370 (GRCm39) G93R probably damaging Het
Sec24a T C 11: 51,595,228 (GRCm39) T910A probably benign Het
Snx4 T A 16: 33,106,428 (GRCm39) probably null Het
Tchh A G 3: 93,351,439 (GRCm39) E293G unknown Het
Ulk2 T A 11: 61,682,335 (GRCm39) T727S probably benign Het
Usp53 T C 3: 122,729,706 (GRCm39) E756G probably damaging Het
Vmn2r68 G A 7: 84,871,123 (GRCm39) A720V probably benign Het
Vmn2r79 A G 7: 86,645,839 (GRCm39) N56S possibly damaging Het
Washc5 A T 15: 59,235,118 (GRCm39) Y263* probably null Het
Zfp119b A T 17: 56,245,639 (GRCm39) C516S 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
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
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'- TCCTGGTTCGTAGTTGTCAC -3'
(R):5'- GTGCTGCTGATTACTGATTCCAG -3'

Sequencing Primer
(F):5'- GTAGTTGTCACTTAGTGTCAGAAATG -3'
(R):5'- CCAGCTTTGCTTGTGGCCAG -3'
Posted On 2014-10-02