Incidental Mutation 'IGL02882:Sesn2'
ID362840
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: 0.272) question?
Stock #IGL02882
Quality Score
Status
Chromosome4
Chromosomal Location132492032-132510501 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 132493793 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 456 (N456D)
Ref Sequence ENSEMBL: ENSMUSP00000030724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030724]
Predicted Effect probably benign
Transcript: ENSMUST00000030724
AA Change: N456D

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000030724
Gene: ENSMUSG00000028893
AA Change: N456D

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A T 9: 44,277,489 L469* probably null Het
Calr3 T A 8: 72,434,821 Y46F probably damaging Het
Clcn4 A G 7: 7,290,465 C491R probably damaging Het
Col6a5 G T 9: 105,934,321 D666E unknown Het
D130052B06Rik G A 11: 33,623,780 V126M probably damaging Het
Ddx27 A G 2: 167,027,913 I389M possibly damaging Het
Dgka T C 10: 128,733,384 I160V possibly damaging Het
E430018J23Rik A G 7: 127,392,252 Y188H probably damaging Het
Enpp6 T C 8: 47,030,532 S120P probably damaging Het
Ezh1 A G 11: 101,203,289 I459T probably benign Het
Fam91a1 A G 15: 58,453,061 probably benign Het
Foxn2 T C 17: 88,462,947 L74P probably damaging Het
Fscn2 T C 11: 120,362,499 V264A probably benign Het
Gmeb2 G A 2: 181,265,883 T54I probably damaging Het
Hmcn2 A T 2: 31,413,367 K3007* probably null Het
Ice1 A T 13: 70,624,474 probably benign Het
Lgi1 A G 19: 38,284,005 D84G probably benign Het
Mier2 T C 10: 79,547,721 I196V probably damaging Het
Nipal2 T C 15: 34,600,077 Y198C probably damaging Het
Npas2 A C 1: 39,312,996 S176R probably benign Het
Olfr914 A T 9: 38,606,938 I158F probably benign Het
Pam A C 1: 97,840,367 C713G probably damaging Het
Pcdh17 C A 14: 84,446,661 D189E probably damaging Het
Pcdhb8 T A 18: 37,356,223 I318N possibly damaging Het
Pcyt2 A G 11: 120,611,407 S300P possibly damaging Het
Pkdrej A G 15: 85,817,296 S1480P probably damaging Het
Plekhd1 G A 12: 80,719,007 probably null Het
Plxna2 A T 1: 194,762,570 S757C probably damaging Het
Prkdc A T 16: 15,651,519 K163* probably null Het
Serpina3f A T 12: 104,217,004 T42S probably damaging Het
Tas2r105 A T 6: 131,687,180 L95Q possibly damaging Het
Tln1 A G 4: 43,539,522 V1600A probably benign Het
Zfp808 A G 13: 62,173,180 K741R 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
IGL01336:Sesn2 APN 4 132499367 missense probably benign 0.00
IGL01800:Sesn2 APN 4 132499107 missense probably damaging 1.00
IGL02161:Sesn2 APN 4 132496918 missense probably damaging 1.00
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 On2015-12-18