Incidental Mutation 'IGL01336:Sesn2'
ID74627
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: 0.294) question?
Stock #IGL01336
Quality Score
Status
Chromosome4
Chromosomal Location132492032-132510501 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 132499367 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 139 (T139A)
Ref Sequence ENSEMBL: ENSMUSP00000030724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030724]
Predicted Effect probably benign
Transcript: ENSMUST00000030724
AA Change: T139A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000030724
Gene: ENSMUSG00000028893
AA Change: T139A

DomainStartEndE-ValueType
Pfam:PA26 43 479 3.5e-199 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131733
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly G T 11: 100,495,910 L599I probably benign Het
Adcyap1 A G 17: 93,203,964 D122G probably benign Het
Ahr A G 12: 35,503,840 V760A probably benign Het
Ankrd7 T C 6: 18,868,278 V133A probably benign Het
Bsn A G 9: 108,111,785 V2256A probably damaging Het
Cblb A G 16: 52,186,229 K765E probably benign Het
Clmp A G 9: 40,782,610 *374W probably null Het
Ddc A G 11: 11,846,630 probably null Het
Dnah10 A G 5: 124,775,512 Y1878C probably damaging Het
Ei24 A G 9: 36,786,481 probably null Het
Gm12394 T A 4: 42,793,784 Q116L possibly damaging Het
Gm8394 T C 10: 85,314,164 noncoding transcript Het
Ikbke A G 1: 131,273,756 M118T probably damaging Het
Il6st T C 13: 112,480,239 S107P possibly damaging Het
Map2k6 A G 11: 110,496,411 Y203C probably damaging Het
Mettl27 C T 5: 134,935,880 probably benign Het
Mrps14 G A 1: 160,196,995 W32* probably null Het
Naaa A C 5: 92,265,133 M208R probably benign Het
Nat2 A G 8: 67,501,541 Y101C probably damaging Het
Ncoa3 A G 2: 166,054,523 S449G probably benign Het
Olfr1507 A G 14: 52,490,748 I72T probably damaging Het
Olfr5 T C 7: 6,480,998 I53V probably benign Het
Phykpl G A 11: 51,599,456 probably benign Het
Rasgrf1 A T 9: 89,991,530 M631L probably benign Het
Rgma G A 7: 73,409,318 V57M possibly damaging Het
Samd4b G T 7: 28,413,963 D192E probably benign Het
Slc30a6 A G 17: 74,408,839 probably benign Het
Stra8 T C 6: 34,933,188 Y182H possibly damaging Het
Trim31 C A 17: 36,909,377 A395E probably damaging Het
Trp53bp2 G T 1: 182,431,583 R67L probably damaging Het
Trpa1 A C 1: 14,886,880 probably benign Het
Wdr91 G A 6: 34,909,543 probably benign 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
IGL01800:Sesn2 APN 4 132499107 missense probably damaging 1.00
IGL02161:Sesn2 APN 4 132496918 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 On2013-10-07