Incidental Mutation 'IGL02735:Pgpep1l'
ID305632
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pgpep1l
Ensembl Gene ENSMUSG00000030553
Gene Namepyroglutamyl-peptidase I-like
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.091) question?
Stock #IGL02735
Quality Score
Status
Chromosome7
Chromosomal Location68236610-68264233 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 68236973 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 196 (I196T)
Ref Sequence ENSEMBL: ENSMUSP00000146996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005671] [ENSMUST00000032770] [ENSMUST00000207874]
Predicted Effect probably benign
Transcript: ENSMUST00000005671
SMART Domains Protein: ENSMUSP00000005671
Gene: ENSMUSG00000005533

DomainStartEndE-ValueType
Pfam:Recep_L_domain 51 161 1.6e-29 PFAM
FU 227 270 2.98e-12 SMART
Pfam:Recep_L_domain 353 467 3.8e-32 PFAM
FN3 490 593 4.67e-2 SMART
FN3 612 815 1.95e-4 SMART
FN3 833 915 7.4e-5 SMART
low complexity region 937 954 N/A INTRINSIC
TyrKc 1000 1268 8.51e-141 SMART
low complexity region 1285 1303 N/A INTRINSIC
low complexity region 1306 1319 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000032770
AA Change: I120T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000032770
Gene: ENSMUSG00000030553
AA Change: I120T

DomainStartEndE-ValueType
Pfam:Peptidase_C15 5 111 8.5e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207874
AA Change: I196T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Acss1 A T 2: 150,638,467 V228E probably damaging Het
Ampd1 T A 3: 103,085,377 M145K probably damaging Het
Ankhd1 G A 18: 36,648,546 S2217N probably benign Het
Asph T A 4: 9,598,759 D211V probably damaging Het
C87414 G A 5: 93,638,644 P89S possibly damaging Het
Cd55b A T 1: 130,388,676 W379R probably damaging Het
Derl3 A G 10: 75,895,116 T201A probably damaging Het
Efcab6 A G 15: 83,899,697 L1008P probably damaging Het
Eif4g3 A G 4: 138,126,211 I363V probably benign Het
Heatr5a A G 12: 51,915,021 F1058L probably damaging Het
Hmcn1 A T 1: 150,646,832 M3439K probably benign Het
Ift140 C A 17: 25,034,035 probably benign Het
Itgad A G 7: 128,193,716 Y832C probably damaging Het
Itgb2 T A 10: 77,549,999 D265E possibly damaging Het
Kif19a A T 11: 114,785,567 E449V probably damaging Het
Krt40 T C 11: 99,538,635 E291G probably damaging Het
Lama2 T C 10: 27,104,128 N1897S probably damaging Het
Lepr A G 4: 101,782,638 Y767C probably damaging Het
Lrrtm4 A G 6: 80,809,050 H546R probably benign Het
March6 A G 15: 31,486,120 S362P probably benign Het
Med12l A G 3: 59,093,646 Y734C probably damaging Het
Mrps18a C T 17: 46,122,799 R74C probably damaging Het
Mvk A G 5: 114,450,819 E174G probably benign Het
Naip2 A G 13: 100,160,214 S1105P probably damaging Het
Nrxn3 A G 12: 89,254,854 M468V probably benign Het
Obscn T C 11: 59,093,349 E1760G probably damaging Het
Pcsk5 C A 19: 17,675,468 G285W probably damaging Het
Phf14 T C 6: 11,987,612 M630T probably benign Het
Plod2 T C 9: 92,595,389 probably benign Het
Poldip2 G A 11: 78,512,336 A9T probably benign Het
Pou2f1 A G 1: 165,875,827 S718P probably damaging Het
Ptpre A T 7: 135,667,567 Y246F probably damaging Het
Pudp T C 18: 50,568,332 H110R probably benign Het
Scaf4 C T 16: 90,245,515 G646E unknown Het
Sec16a T A 2: 26,428,137 probably benign Het
Serpina5 A G 12: 104,103,857 T338A probably benign Het
Shisa5 T G 9: 109,056,012 F118V probably damaging Het
Slc6a21 G A 7: 45,286,637 probably benign Het
Sprtn T A 8: 124,903,387 V473E probably benign Het
Styxl1 A G 5: 135,759,142 I165T probably damaging Het
Tal2 T A 4: 53,785,906 I29N probably damaging Het
Tas2r134 T C 2: 51,627,827 I106T probably damaging Het
Tmem259 G A 10: 79,979,139 T217I probably damaging Het
Trpc6 T C 9: 8,655,338 I723T probably damaging Het
Vmn1r211 A T 13: 22,852,248 V83D probably damaging Het
Vmn2r103 G T 17: 19,812,248 M761I probably benign Het
Ybey A T 10: 76,468,326 I14N probably damaging Het
Other mutations in Pgpep1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01522:Pgpep1l APN 7 68237708 missense possibly damaging 0.62
R1742:Pgpep1l UTSW 7 68237054 missense probably damaging 1.00
R4232:Pgpep1l UTSW 7 68237079 missense probably benign 0.04
R6482:Pgpep1l UTSW 7 68239067 splice site probably null
R7343:Pgpep1l UTSW 7 68237721 missense probably damaging 1.00
X0012:Pgpep1l UTSW 7 68237646 missense probably damaging 1.00
Posted On2015-04-16