Incidental Mutation 'IGL00930:Pfpl'
ID 29511
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pfpl
Ensembl Gene ENSMUSG00000040065
Gene Name pore forming protein-like
Synonyms Epcs5, Epcs50
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # IGL00930
Quality Score
Status
Chromosome 19
Chromosomal Location 12405290-12409474 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12407009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 420 (H420L)
Ref Sequence ENSEMBL: ENSMUSP00000126346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168148]
AlphaFold Q5RKV8
Predicted Effect probably benign
Transcript: ENSMUST00000168148
AA Change: H420L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000126346
Gene: ENSMUSG00000040065
AA Change: H420L

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
MACPF 144 343 6.26e-33 SMART
transmembrane domain 643 665 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 T C 7: 119,191,533 (GRCm39) S534P possibly damaging Het
Adamts15 G A 9: 30,813,349 (GRCm39) P939S probably damaging Het
Alms1 T C 6: 85,578,292 (GRCm39) S207P probably damaging Het
Chd7 A G 4: 8,805,181 (GRCm39) K747E probably damaging Het
Dock5 G T 14: 68,008,526 (GRCm39) N1457K probably damaging Het
Donson T C 16: 91,479,479 (GRCm39) E323G possibly damaging Het
Epc1 T A 18: 6,449,196 (GRCm39) M434L probably benign Het
Fcer1a A G 1: 173,050,100 (GRCm39) probably benign Het
Hemgn A T 4: 46,396,383 (GRCm39) C284* probably null Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Or7g34 A G 9: 19,478,471 (GRCm39) S67P probably damaging Het
Pcdh15 G A 10: 74,466,530 (GRCm39) E1450K probably benign Het
Pitpnm2 A G 5: 124,259,726 (GRCm39) probably benign Het
Pole2 A G 12: 69,273,219 (GRCm39) probably benign Het
Prmt3 T A 7: 49,441,757 (GRCm39) Y245N probably damaging Het
Rpl10a T C 17: 28,547,981 (GRCm39) Y41H probably damaging Het
Tpst1 A T 5: 130,130,975 (GRCm39) K148N probably benign Het
Vmn1r199 A G 13: 22,567,029 (GRCm39) T108A possibly damaging Het
Wdr7 T A 18: 63,873,315 (GRCm39) C525* probably null Het
Zfp646 A G 7: 127,478,302 (GRCm39) T160A possibly damaging Het
Other mutations in Pfpl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01298:Pfpl APN 19 12,406,037 (GRCm39) missense possibly damaging 0.68
IGL01310:Pfpl APN 19 12,405,974 (GRCm39) missense probably damaging 1.00
IGL02273:Pfpl APN 19 12,407,327 (GRCm39) missense possibly damaging 0.96
IGL02532:Pfpl APN 19 12,406,209 (GRCm39) missense probably damaging 1.00
IGL02611:Pfpl APN 19 12,407,647 (GRCm39) missense probably benign
IGL02642:Pfpl APN 19 12,407,107 (GRCm39) missense probably damaging 1.00
IGL02715:Pfpl APN 19 12,407,145 (GRCm39) nonsense probably null
IGL03087:Pfpl APN 19 12,406,241 (GRCm39) missense probably benign 0.06
IGL03223:Pfpl APN 19 12,407,438 (GRCm39) missense probably damaging 1.00
IGL03253:Pfpl APN 19 12,407,393 (GRCm39) missense probably damaging 0.99
pegged UTSW 19 12,406,374 (GRCm39) missense probably damaging 1.00
D3080:Pfpl UTSW 19 12,406,196 (GRCm39) missense probably damaging 0.98
R0276:Pfpl UTSW 19 12,406,601 (GRCm39) missense probably damaging 1.00
R0433:Pfpl UTSW 19 12,406,839 (GRCm39) missense probably damaging 1.00
R1004:Pfpl UTSW 19 12,407,789 (GRCm39) missense probably benign 0.00
R1510:Pfpl UTSW 19 12,407,060 (GRCm39) missense probably benign 0.31
R1759:Pfpl UTSW 19 12,407,224 (GRCm39) missense probably damaging 1.00
R2009:Pfpl UTSW 19 12,407,319 (GRCm39) missense possibly damaging 0.95
R2063:Pfpl UTSW 19 12,407,237 (GRCm39) missense probably damaging 1.00
R2201:Pfpl UTSW 19 12,407,843 (GRCm39) missense probably benign 0.01
R2656:Pfpl UTSW 19 12,407,600 (GRCm39) missense probably benign
R2969:Pfpl UTSW 19 12,406,907 (GRCm39) missense probably benign 0.00
R3003:Pfpl UTSW 19 12,407,690 (GRCm39) missense possibly damaging 0.90
R3428:Pfpl UTSW 19 12,407,677 (GRCm39) missense probably benign 0.37
R3904:Pfpl UTSW 19 12,407,801 (GRCm39) missense probably benign 0.00
R4049:Pfpl UTSW 19 12,407,053 (GRCm39) missense probably damaging 1.00
R4717:Pfpl UTSW 19 12,406,618 (GRCm39) missense probably benign 0.07
R5343:Pfpl UTSW 19 12,406,052 (GRCm39) missense probably damaging 0.99
R5804:Pfpl UTSW 19 12,407,027 (GRCm39) missense probably benign 0.00
R6032:Pfpl UTSW 19 12,406,747 (GRCm39) missense probably damaging 0.99
R6032:Pfpl UTSW 19 12,406,747 (GRCm39) missense probably damaging 0.99
R6047:Pfpl UTSW 19 12,406,597 (GRCm39) missense probably damaging 1.00
R6106:Pfpl UTSW 19 12,406,825 (GRCm39) missense probably damaging 0.99
R6657:Pfpl UTSW 19 12,407,290 (GRCm39) missense probably benign 0.36
R7467:Pfpl UTSW 19 12,405,878 (GRCm39) missense probably damaging 1.00
R7720:Pfpl UTSW 19 12,406,538 (GRCm39) missense probably benign 0.02
R8024:Pfpl UTSW 19 12,407,570 (GRCm39) missense possibly damaging 0.94
R8370:Pfpl UTSW 19 12,407,275 (GRCm39) missense probably damaging 0.99
R8730:Pfpl UTSW 19 12,405,944 (GRCm39) missense probably damaging 1.00
R8974:Pfpl UTSW 19 12,405,839 (GRCm39) missense probably damaging 1.00
R9147:Pfpl UTSW 19 12,405,804 (GRCm39) missense possibly damaging 0.64
R9148:Pfpl UTSW 19 12,405,804 (GRCm39) missense possibly damaging 0.64
R9248:Pfpl UTSW 19 12,406,374 (GRCm39) missense probably damaging 1.00
R9283:Pfpl UTSW 19 12,406,220 (GRCm39) missense probably damaging 1.00
R9542:Pfpl UTSW 19 12,406,297 (GRCm39) missense probably damaging 1.00
R9560:Pfpl UTSW 19 12,406,297 (GRCm39) missense probably damaging 1.00
R9561:Pfpl UTSW 19 12,406,297 (GRCm39) missense probably damaging 1.00
R9663:Pfpl UTSW 19 12,407,459 (GRCm39) missense probably damaging 1.00
R9670:Pfpl UTSW 19 12,407,107 (GRCm39) missense probably damaging 1.00
R9721:Pfpl UTSW 19 12,406,297 (GRCm39) missense probably damaging 1.00
R9722:Pfpl UTSW 19 12,406,297 (GRCm39) missense probably damaging 1.00
R9723:Pfpl UTSW 19 12,406,297 (GRCm39) missense probably damaging 1.00
R9759:Pfpl UTSW 19 12,406,297 (GRCm39) missense probably damaging 1.00
R9761:Pfpl UTSW 19 12,406,297 (GRCm39) missense probably damaging 1.00
R9762:Pfpl UTSW 19 12,406,297 (GRCm39) missense probably damaging 1.00
Z1176:Pfpl UTSW 19 12,407,305 (GRCm39) nonsense probably null
Posted On 2013-04-17