Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00930:Pfpl'

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

Genbank: NM_019540; MGI: 1860266

Is this an essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

IGL00930

Quality Score

Status

Chromosome

Chromosomal Location

12427905-12432110 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12429645 bp

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]

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

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
Acsm2	T	C	7: 119,592,310	S534P	possibly damaging	Het
Adamts15	G	A	9: 30,902,053	P939S	probably damaging	Het
Alms1	T	C	6: 85,601,310	S207P	probably damaging	Het
Chd7	A	G	4: 8,805,181	K747E	probably damaging	Het
Dock5	G	T	14: 67,771,077	N1457K	probably damaging	Het
Donson	T	C	16: 91,682,591	E323G	possibly damaging	Het
Epc1	T	A	18: 6,449,196	M434L	probably benign	Het
Fcer1a	A	G	1: 173,222,533		probably benign	Het
Hemgn	A	T	4: 46,396,383	C284*	probably null	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Olfr854	A	G	9: 19,567,175	S67P	probably damaging	Het
Pcdh15	G	A	10: 74,630,698	E1450K	probably benign	Het
Pitpnm2	A	G	5: 124,121,663		probably benign	Het
Pole2	A	G	12: 69,226,445		probably benign	Het
Prmt3	T	A	7: 49,792,009	Y245N	probably damaging	Het
Rpl10a	T	C	17: 28,329,007	Y41H	probably damaging	Het
Tpst1	A	T	5: 130,102,134	K148N	probably benign	Het
Vmn1r199	A	G	13: 22,382,859	T108A	possibly damaging	Het
Wdr7	T	A	18: 63,740,244	C525*	probably null	Het
Zfp646	A	G	7: 127,879,130	T160A	possibly damaging	Het

Other mutations in Pfpl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01298:Pfpl	APN	19	12428673	missense	possibly damaging	0.68
IGL01310:Pfpl	APN	19	12428610	missense	probably damaging	1.00
IGL02273:Pfpl	APN	19	12429963	missense	possibly damaging	0.96
IGL02532:Pfpl	APN	19	12428845	missense	probably damaging	1.00
IGL02611:Pfpl	APN	19	12430283	missense	probably benign
IGL02642:Pfpl	APN	19	12429743	missense	probably damaging	1.00
IGL02715:Pfpl	APN	19	12429781	nonsense	probably null
IGL03087:Pfpl	APN	19	12428877	missense	probably benign	0.06
IGL03223:Pfpl	APN	19	12430074	missense	probably damaging	1.00
IGL03253:Pfpl	APN	19	12430029	missense	probably damaging	0.99
D3080:Pfpl	UTSW	19	12428832	missense	probably damaging	0.98
R0276:Pfpl	UTSW	19	12429237	missense	probably damaging	1.00
R0433:Pfpl	UTSW	19	12429475	missense	probably damaging	1.00
R1004:Pfpl	UTSW	19	12430425	missense	probably benign	0.00
R1510:Pfpl	UTSW	19	12429696	missense	probably benign	0.31
R1759:Pfpl	UTSW	19	12429860	missense	probably damaging	1.00
R2009:Pfpl	UTSW	19	12429955	missense	possibly damaging	0.95
R2063:Pfpl	UTSW	19	12429873	missense	probably damaging	1.00
R2201:Pfpl	UTSW	19	12430479	missense	probably benign	0.01
R2656:Pfpl	UTSW	19	12430236	missense	probably benign
R2969:Pfpl	UTSW	19	12429543	missense	probably benign	0.00
R3003:Pfpl	UTSW	19	12430326	missense	possibly damaging	0.90
R3428:Pfpl	UTSW	19	12430313	missense	probably benign	0.37
R3904:Pfpl	UTSW	19	12430437	missense	probably benign	0.00
R4049:Pfpl	UTSW	19	12429689	missense	probably damaging	1.00
R4717:Pfpl	UTSW	19	12429254	missense	probably benign	0.07
R5343:Pfpl	UTSW	19	12428688	missense	probably damaging	0.99
R5804:Pfpl	UTSW	19	12429663	missense	probably benign	0.00
R6032:Pfpl	UTSW	19	12429383	missense	probably damaging	0.99
R6032:Pfpl	UTSW	19	12429383	missense	probably damaging	0.99
R6047:Pfpl	UTSW	19	12429233	missense	probably damaging	1.00
R6106:Pfpl	UTSW	19	12429461	missense	probably damaging	0.99
R6657:Pfpl	UTSW	19	12429926	missense	probably benign	0.36
R7467:Pfpl	UTSW	19	12428514	missense	probably damaging	1.00
R7720:Pfpl	UTSW	19	12429174	missense	probably benign	0.02
R8024:Pfpl	UTSW	19	12430206	missense	possibly damaging	0.94
R8370:Pfpl	UTSW	19	12429911	missense	probably damaging	0.99
Z1176:Pfpl	UTSW	19	12429941	nonsense	probably null

Posted On

2013-04-17