Incidental Mutation 'R5258:Sesn1'
ID 401252
Institutional Source Beutler Lab
Gene Symbol Sesn1
Ensembl Gene ENSMUSG00000038332
Gene Name sestrin 1
Synonyms SEST1, 1110002G11Rik, PA26
MMRRC Submission 042828-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5258 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 41686570-41784432 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 41770984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 172 (P172S)
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: P113S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000043034
Gene: ENSMUSG00000038332
AA Change: P113S

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
Pfam:PA26 45 492 5.4e-227 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099931
AA Change: P172S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000097515
Gene: ENSMUSG00000038332
AA Change: P172S

DomainStartEndE-ValueType
Pfam:PA26 106 550 1.2e-212 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214835
Meta Mutation Damage Score 0.2411 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 98% (55/56)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,385,266 (GRCm39) D233V probably damaging Het
Abca13 A T 11: 9,199,684 (GRCm39) T128S possibly damaging Het
Abca16 T G 7: 120,035,992 (GRCm39) probably null Het
Abcc8 T C 7: 45,757,811 (GRCm39) I1313V probably benign Het
Abcc8 C T 7: 45,806,572 (GRCm39) V379I probably benign Het
Acp3 T C 9: 104,186,674 (GRCm39) I266V probably benign Het
Asf1b C T 8: 84,695,896 (GRCm39) T179I probably benign Het
B3gnt7 A G 1: 86,233,287 (GRCm39) K61E possibly damaging Het
Card11 G A 5: 140,862,180 (GRCm39) P1039L possibly damaging Het
Cd1d2 C G 3: 86,894,954 (GRCm39) R147G possibly damaging Het
Cfap68 T C 9: 50,675,633 (GRCm39) probably benign Het
Cfap69 T C 5: 5,654,271 (GRCm39) probably null Het
Ddx46 T C 13: 55,800,837 (GRCm39) F331L possibly damaging Het
Dkk4 C A 8: 23,117,031 (GRCm39) L215I probably damaging Het
Dnhd1 C T 7: 105,323,244 (GRCm39) T584I probably benign Het
Dock3 T C 9: 106,874,124 (GRCm39) Y449C probably damaging Het
Foxi2 C T 7: 135,012,256 (GRCm39) T48M probably benign Het
Gm12887 T C 4: 121,472,897 (GRCm39) K82E probably benign Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Igkv4-80 T A 6: 68,993,811 (GRCm39) T27S probably benign Het
Invs A G 4: 48,396,374 (GRCm39) D349G possibly damaging Het
Lbhd1 A G 19: 8,861,453 (GRCm39) probably benign Het
Lipo3 T A 19: 33,591,243 (GRCm39) probably benign Het
Llgl1 G C 11: 60,602,389 (GRCm39) probably null Het
Lyzl6 T A 11: 103,525,899 (GRCm39) I74F probably damaging Het
Map3k6 T C 4: 132,974,953 (GRCm39) V662A possibly damaging Het
Megf8 T A 7: 25,047,751 (GRCm39) F1645I possibly damaging Het
Mfsd4b2 T A 10: 39,798,017 (GRCm39) M113L probably benign Het
Mib1 G A 18: 10,795,856 (GRCm39) probably null Het
Mrps6 T A 16: 91,896,543 (GRCm39) V36E probably damaging Het
Nhsl1 C A 10: 18,400,070 (GRCm39) S432* probably null Het
Nle1 T C 11: 82,795,772 (GRCm39) D225G probably damaging Het
Nlrp4c T A 7: 6,069,622 (GRCm39) S508T probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or5d37 A T 2: 87,923,762 (GRCm39) Y173N probably benign Het
P2rx7 A G 5: 122,819,066 (GRCm39) E496G probably damaging Het
Prdm16 A T 4: 154,451,671 (GRCm39) D179E possibly damaging Het
Psca A T 15: 74,588,240 (GRCm39) I56F probably damaging Het
Ptprg A G 14: 12,142,431 (GRCm38) T361A probably benign Het
Ptrhd1 A G 12: 4,286,481 (GRCm39) Y124C probably damaging Het
Sspo T C 6: 48,453,428 (GRCm39) V2872A probably damaging Het
Stard9 T A 2: 120,529,824 (GRCm39) L2027H probably damaging Het
Tas2r114 T A 6: 131,666,504 (GRCm39) I175F probably benign Het
Tex2 T A 11: 106,458,585 (GRCm39) probably benign Het
Tfdp1 C T 8: 13,419,529 (GRCm39) T86M possibly damaging Het
Trav14-1 C T 14: 53,791,730 (GRCm39) H27Y probably benign Het
Trim24 A T 6: 37,896,335 (GRCm39) Q264L probably benign Het
Vmn2r90 A G 17: 17,933,114 (GRCm39) I225V probably benign Het
Vps13b A G 15: 35,794,567 (GRCm39) T2326A possibly damaging Het
Zfp354b A C 11: 50,813,917 (GRCm39) I336S probably benign Het
Zfp407 C T 18: 84,334,051 (GRCm39) V1761I probably damaging Het
Zfp958 A T 8: 4,678,456 (GRCm39) E160D 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
R5141:Sesn1 UTSW 10 41,687,097 (GRCm39) missense probably benign
R5257: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'- TGTGTGCAACTGTGGCTCTC -3'
(R):5'- GTCTCTGAAGCATGCGAGAG -3'

Sequencing Primer
(F):5'- CTCCTTCCCACAGATGCTG -3'
(R):5'- CGAGAGCGCATGCACAC -3'
Posted On 2016-07-06