Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03223:Pfpl'

413706

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 #

IGL03223

Quality Score

Status

Chromosome

Chromosomal Location

12405290-12409474 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12407438 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 563 (Q563L)

Ref Sequence

ENSEMBL: ENSMUSP00000126346 (fasta)

Gene Model

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

AlphaFold

Q5RKV8

Predicted Effect

probably damaging
Transcript: ENSMUST00000168148
AA Change: Q563L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126346
Gene: ENSMUSG00000040065
AA Change: Q563L

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3b1	T	A	19: 3,965,329 (GRCm39)	H394L	probably damaging	Het
B430306N03Rik	G	A	17: 48,623,896 (GRCm39)	V66I	probably damaging	Het
Btbd10	T	C	7: 112,931,877 (GRCm39)	N175S	probably damaging	Het
Dock4	C	A	12: 40,867,593 (GRCm39)	Q1390K	probably damaging	Het
Eea1	A	C	10: 95,875,473 (GRCm39)	E1248A	probably damaging	Het
Farp2	T	A	1: 93,545,324 (GRCm39)	Y827*	probably null	Het
Gcc2	A	G	10: 58,134,556 (GRCm39)	Y1510C	probably damaging	Het
Igfbp7	A	C	5: 77,497,318 (GRCm39)		probably benign	Het
Il1rapl1	A	C	X: 86,344,341 (GRCm39)	C185G	probably damaging	Het
Itga7	A	G	10: 128,784,680 (GRCm39)		probably benign	Het
Itsn1	T	C	16: 91,702,194 (GRCm39)	V12A	probably benign	Het
Lrrc4	A	T	6: 28,831,469 (GRCm39)	C49S	probably damaging	Het
Lrrc49	T	A	9: 60,595,128 (GRCm39)	K5N	possibly damaging	Het
Myh13	T	C	11: 67,241,068 (GRCm39)	I815T	probably benign	Het
Myh8	T	C	11: 67,174,644 (GRCm39)	I253T	probably damaging	Het
Myo19	A	G	11: 84,801,297 (GRCm39)	T948A	possibly damaging	Het
Nhs	T	A	X: 160,624,902 (GRCm39)	I837F	probably damaging	Het
Or5b113	G	T	19: 13,342,645 (GRCm39)	V218L	probably benign	Het
Or5b98	T	C	19: 12,931,268 (GRCm39)	V105A	probably benign	Het
Swt1	A	G	1: 151,255,170 (GRCm39)	M809T	possibly damaging	Het
Tbc1d13	T	A	2: 30,038,648 (GRCm39)	I311N	probably damaging	Het
Tgs1	T	C	4: 3,591,322 (GRCm39)		probably benign	Het
Usf3	C	T	16: 44,036,813 (GRCm39)	T431M	probably damaging	Het
Vdac1	G	A	11: 52,267,482 (GRCm39)	R93H	probably benign	Het
Vmn1r234	G	A	17: 21,449,653 (GRCm39)	G189D	probably damaging	Het
Zfp14	A	G	7: 29,737,858 (GRCm39)	Y376H	probably damaging	Het
Zfp472	T	C	17: 33,196,248 (GRCm39)	C108R	probably benign	Het
Zfp658	A	G	7: 43,216,735 (GRCm39)	E35G	possibly 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
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
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

2016-08-02