Incidental Mutation 'IGL02161:Sesn2'
ID282485
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sesn2
Ensembl Gene ENSMUSG00000028893
Gene Namesestrin 2
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.284) question?
Stock #IGL02161
Quality Score
Status
Chromosome4
Chromosomal Location132492032-132510501 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 132496918 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 393 (I393N)
Ref Sequence ENSEMBL: ENSMUSP00000030724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030724]
Predicted Effect probably damaging
Transcript: ENSMUST00000030724
AA Change: I393N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030724
Gene: ENSMUSG00000028893
AA Change: I393N

DomainStartEndE-ValueType
Pfam:PA26 43 479 3.5e-199 PFAM
Coding Region Coverage
Validation Efficiency
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 of PA26-related proteins. The encoded protein may function in the regulation of cell growth and survival. This protein may be involved in cellular response to different stress conditions. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mouse lung fibroblasts homozgyous for a gene trap allele exhibit increased cellular sensitivity to hydrogen peroxide, decreased proliferation, and increased apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A T 12: 118,874,755 V1024D probably benign Het
Alox5 T A 6: 116,423,193 M262L probably benign Het
Arid5b T C 10: 68,096,668 T1135A probably benign Het
Ascc3 T A 10: 50,850,527 Y2177* probably null Het
Birc6 A C 17: 74,548,837 H214P probably damaging Het
Catsperb T A 12: 101,409,415 probably benign Het
Ccr1l1 G A 9: 123,977,963 T149I possibly damaging Het
Cfap57 T G 4: 118,579,372 R942S possibly damaging Het
Crocc G A 4: 141,033,991 A941V probably benign Het
Csde1 A G 3: 103,050,338 Q471R probably damaging Het
Csmd1 C T 8: 16,358,412 V380I probably damaging Het
Dhx8 A T 11: 101,757,606 Q857L probably damaging Het
Eftud2 A G 11: 102,854,876 probably benign Het
Fat3 C A 9: 15,997,050 R2552I probably benign Het
Fat3 T A 9: 15,997,051 R2552* probably null Het
Fbln7 A T 2: 128,889,791 K166I probably benign Het
Glrx2 C T 1: 143,739,683 S8L possibly damaging Het
Grin2d T G 7: 45,854,422 I630L possibly damaging Het
Gsap T A 5: 21,253,379 W423R probably damaging Het
Kifc2 A G 15: 76,666,045 E468G probably damaging Het
Kpnb1 A G 11: 97,168,936 S566P probably benign Het
Lemd2 A G 17: 27,190,651 S509P probably damaging Het
Lepr T C 4: 101,745,678 F221S probably damaging Het
Nynrin T C 14: 55,863,984 F370S probably damaging Het
Olfr642 C A 7: 104,049,590 V255L possibly damaging Het
Pcdhb15 T A 18: 37,475,502 S596T possibly damaging Het
Prkcq G T 2: 11,277,076 S472I probably benign Het
Rabgef1 T C 5: 130,207,099 probably benign Het
Rnd3 C T 2: 51,134,076 V164M probably benign Het
Rtn4rl1 G A 11: 75,265,840 R366Q probably damaging Het
St8sia2 T C 7: 73,976,682 N46S probably benign Het
Svopl A G 6: 38,036,815 probably benign Het
Tbr1 C T 2: 61,805,239 Q178* probably null Het
Vax2 T C 6: 83,737,903 S267P probably damaging Het
Vmn1r47 T A 6: 90,022,316 Y143* probably null Het
Vmn2r28 A G 7: 5,488,124 S375P possibly damaging Het
Vmn2r44 A T 7: 8,377,815 Y360N possibly damaging Het
Zc3h6 G A 2: 128,993,226 S94N possibly damaging Het
Other mutations in Sesn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Sesn2 APN 4 132499813 missense probably benign 0.00
IGL01319:Sesn2 APN 4 132499967 splice site probably benign
IGL01336:Sesn2 APN 4 132499367 missense probably benign 0.00
IGL01800:Sesn2 APN 4 132499107 missense probably damaging 1.00
IGL02882:Sesn2 APN 4 132493793 missense probably benign 0.16
R1845:Sesn2 UTSW 4 132497070 nonsense probably null
R4732:Sesn2 UTSW 4 132494591 missense probably damaging 1.00
R4733:Sesn2 UTSW 4 132494591 missense probably damaging 1.00
R5097:Sesn2 UTSW 4 132496898 missense probably benign 0.12
R5261:Sesn2 UTSW 4 132499306 missense probably damaging 1.00
R5385:Sesn2 UTSW 4 132499264 missense probably damaging 0.99
R6011:Sesn2 UTSW 4 132499397 missense probably damaging 1.00
R6224:Sesn2 UTSW 4 132502570 missense probably benign 0.01
R6852:Sesn2 UTSW 4 132493802 missense possibly damaging 0.70
R7224:Sesn2 UTSW 4 132497413 missense probably benign 0.22
R7546:Sesn2 UTSW 4 132499843 missense probably damaging 1.00
R7682:Sesn2 UTSW 4 132496889 missense probably damaging 0.99
Z1176:Sesn2 UTSW 4 132499312 missense probably damaging 0.99
Posted On2015-04-16