Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02611:Pfpl'

300475

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: 0.114) question?

Stock #

IGL02611

Quality Score

Status

Chromosome

Chromosomal Location

12405290-12409474 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12407647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 633 (S633P)

Ref Sequence

ENSEMBL: ENSMUSP00000126346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168148]

AlphaFold

Q5RKV8

Predicted Effect

probably benign
Transcript: ENSMUST00000168148
AA Change: S633P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126346
Gene: ENSMUSG00000040065
AA Change: S633P

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Chac1	T	A	2: 119,183,934 (GRCm39)	Y179N	probably damaging	Het
Cyp2c37	T	G	19: 39,982,309 (GRCm39)	F103L	probably benign	Het
Dmp1	A	T	5: 104,360,380 (GRCm39)	D352V	probably damaging	Het
Dpp8	T	C	9: 64,963,075 (GRCm39)	I443T	probably benign	Het
Furin	G	A	7: 80,041,526 (GRCm39)	A544V	probably benign	Het
Galntl6	A	G	8: 58,411,450 (GRCm39)	M260T	probably damaging	Het
Gm17654	G	A	14: 43,816,462 (GRCm39)	T47I	possibly damaging	Het
Hadha	A	G	5: 30,333,941 (GRCm39)		probably benign	Het
Itfg2	T	A	6: 128,401,688 (GRCm39)	N30I	probably damaging	Het
Kntc1	T	A	5: 123,950,128 (GRCm39)	L1977H	probably damaging	Het
Lats1	T	C	10: 7,581,551 (GRCm39)	F779L	possibly damaging	Het
Ltbp4	T	C	7: 27,010,080 (GRCm39)	Y1160C	probably damaging	Het
Mcm7	C	A	5: 138,165,701 (GRCm39)	S401I	probably damaging	Het
Or2ag1b	G	T	7: 106,287,996 (GRCm39)	T314K	probably benign	Het
Or52n20	A	T	7: 104,320,614 (GRCm39)	D235V	possibly damaging	Het
Pcdh8	C	T	14: 80,005,107 (GRCm39)	V876I	probably benign	Het
Psg29	G	A	7: 16,942,716 (GRCm39)	R239Q	probably benign	Het
St18	T	A	1: 6,839,114 (GRCm39)		probably benign	Het
Syt2	G	A	1: 134,669,620 (GRCm39)	C87Y	possibly damaging	Het
Unc79	A	G	12: 103,131,967 (GRCm39)	T2300A	probably damaging	Het

Other mutations in Pfpl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00930:Pfpl	APN	19	12,407,009 (GRCm39)	missense	probably benign	0.00
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
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

2015-04-16