Incidental Mutation 'IGL02934:Perp'
ID364236
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Perp
Ensembl Gene ENSMUSG00000019851
Gene NamePERP, TP53 apoptosis effector
Synonyms1110017A08Rik, KCP1, PIGPC1, KRTCAP1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.206) question?
Stock #IGL02934
Quality Score
Status
Chromosome10
Chromosomal Location18845020-18857073 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 18855772 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 160 (T160S)
Ref Sequence ENSEMBL: ENSMUSP00000019998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019998]
Predicted Effect probably damaging
Transcript: ENSMUST00000019998
AA Change: T160S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000019998
Gene: ENSMUSG00000019851
AA Change: T160S

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 14 169 1.1e-13 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous inactivation of this locus results in increased lethality during the postnatal period. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 122,162,359 R716* probably null Het
Abca8a A T 11: 110,040,588 N1246K probably damaging Het
Acadl A G 1: 66,836,975 Y396H probably benign Het
Apol7c A T 15: 77,526,118 S209R possibly damaging Het
Atp1a1 A T 3: 101,576,992 C990* probably null Het
Cachd1 C T 4: 100,968,098 S583L probably damaging Het
Cbfa2t3 T C 8: 122,647,758 T48A probably benign Het
Ccdc138 G T 10: 58,573,580 probably benign Het
Cenpe A G 3: 135,264,351 E2231G probably damaging Het
Cog3 T C 14: 75,741,689 I206V probably damaging Het
Cr2 A G 1: 195,154,325 probably benign Het
Ctdspl2 T C 2: 121,979,009 V147A probably damaging Het
Cyp4f13 A G 17: 32,929,871 V300A probably damaging Het
Dkk3 A T 7: 112,150,747 M72K probably damaging Het
Dock3 A T 9: 107,023,745 F340L probably benign Het
Fut1 A G 7: 45,618,703 H27R possibly damaging Het
Igkv4-80 A G 6: 69,016,856 V17A probably benign Het
Igkv9-123 G A 6: 67,954,396 P62L possibly damaging Het
Kmt2e T C 5: 23,497,884 S1021P probably damaging Het
Krt13 A C 11: 100,119,084 L320R probably damaging Het
Ldhal6b T C 17: 5,417,544 T372A probably benign Het
Manba T C 3: 135,544,749 V379A probably benign Het
Map1b C T 13: 99,435,131 V361I probably benign Het
Map4k1 A G 7: 28,994,106 S399G probably benign Het
Mff G A 1: 82,747,094 R229H probably damaging Het
Naga T C 15: 82,330,200 N370S possibly damaging Het
Ncor2 A T 5: 125,025,557 M2045K probably benign Het
Nipal1 T C 5: 72,647,907 L7P probably damaging Het
Olfr9 T A 10: 128,990,089 M59K probably damaging Het
Pcmt1 A T 10: 7,640,727 M187K probably benign Het
Rapgef6 G A 11: 54,625,864 D169N probably damaging Het
Sel1l G A 12: 91,809,936 Q711* probably null Het
Sept5 T C 16: 18,629,831 Y7C probably damaging Het
Spdya A T 17: 71,556,400 N48I probably benign Het
Stard6 T A 18: 70,496,104 probably benign Het
Sytl2 T C 7: 90,375,992 V396A probably benign Het
Tcaf3 T G 6: 42,593,898 M307L probably benign Het
Tdrd6 T C 17: 43,627,887 N757D probably benign Het
Tgm1 T A 14: 55,709,989 D305V probably damaging Het
Themis2 T A 4: 132,789,551 M213L probably damaging Het
Tmem184c A G 8: 77,597,820 V347A probably damaging Het
Tmem214 A G 5: 30,871,544 E159G probably benign Het
Trim58 C T 11: 58,640,466 probably benign Het
Tshz1 A T 18: 84,013,090 S1064R probably damaging Het
Ubr2 C T 17: 46,957,340 E983K possibly damaging Het
Vmn1r23 A T 6: 57,925,929 I288N probably benign Het
Vmn2r97 T C 17: 18,929,685 V445A probably benign Het
Whrn G A 4: 63,416,105 T813M probably damaging Het
Xirp2 C T 2: 67,515,676 H2754Y probably benign Het
Other mutations in Perp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01595:Perp APN 10 18855659 missense probably damaging 1.00
R1195:Perp UTSW 10 18855735 nonsense probably null
R1195:Perp UTSW 10 18855735 nonsense probably null
R1195:Perp UTSW 10 18855735 nonsense probably null
R6329:Perp UTSW 10 18855754 missense probably damaging 1.00
R6329:Perp UTSW 10 18855755 missense probably damaging 1.00
Z1177:Perp UTSW 10 18855695 missense probably damaging 1.00
Posted On2015-12-18