Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03087:Pfpl'

418139

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 #

IGL03087

Quality Score

Status

Chromosome

Chromosomal Location

12427905-12432110 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12428877 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 164 (N164S)

Ref Sequence

ENSEMBL: ENSMUSP00000126346 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000168148
AA Change: N164S

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000126346
Gene: ENSMUSG00000040065
AA Change: N164S

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	C	T	5: 24,997,632		probably benign	Het
Acbd5	A	G	2: 23,089,710	T261A	probably benign	Het
Ap1g2	G	A	14: 55,103,036	T331I	probably damaging	Het
Ap4m1	A	G	5: 138,174,804	T150A	probably benign	Het
Arid4a	G	T	12: 71,075,245	R478L	possibly damaging	Het
Bard1	T	C	1: 71,067,130	D446G	probably damaging	Het
Baz2a	T	C	10: 128,122,313	L1087P	probably damaging	Het
Bnc1	A	G	7: 81,974,642	L279P	possibly damaging	Het
Bphl	A	T	13: 34,073,711	H275L	probably damaging	Het
Ces1c	T	C	8: 93,118,414	I120V	probably benign	Het
Csmd3	T	A	15: 47,977,033	Y946F	probably damaging	Het
Dnah8	G	A	17: 30,784,144	V3606I	probably benign	Het
Eef2	A	G	10: 81,181,247	N696S	probably benign	Het
Eno4	A	G	19: 58,962,816	H420R	possibly damaging	Het
Enpp1	T	A	10: 24,655,881		probably benign	Het
Fbxo25	T	C	8: 13,924,019		probably null	Het
Glt8d1	T	A	14: 31,010,096	F155I	probably damaging	Het
Golim4	A	T	3: 75,878,673	H598Q	possibly damaging	Het
Hnrnpdl	T	A	5: 100,037,601	E149D	probably damaging	Het
Ifngr2	G	T	16: 91,563,004	*333L	probably null	Het
Ift88	T	C	14: 57,477,957	S486P	probably benign	Het
Igsf9	T	C	1: 172,490,743	I150T	probably benign	Het
Jag2	G	A	12: 112,913,948	L670F	possibly damaging	Het
Kcnc2	T	A	10: 112,455,747	I280N	probably benign	Het
Kif18a	A	G	2: 109,318,117		probably benign	Het
Lct	A	G	1: 128,300,375	L1127P	possibly damaging	Het
Lonrf1	A	T	8: 36,225,551		probably null	Het
Lyst	T	A	13: 13,635,056	I437N	probably damaging	Het
Map3k1	A	G	13: 111,749,025	S1453P	probably benign	Het
Mcmdc2	A	G	1: 9,930,945	M482V	possibly damaging	Het
Mical1	T	C	10: 41,482,690	S535P	probably damaging	Het
Myh3	T	C	11: 67,090,972	F765L	probably damaging	Het
Nat8f6	A	T	6: 85,808,517	Y217N	probably damaging	Het
Ndufaf1	A	G	2: 119,655,799		probably benign	Het
Neurod6	A	T	6: 55,678,775	C292*	probably null	Het
Olfr1106	A	T	2: 87,049,012	S75T	possibly damaging	Het
Olfr1255	A	G	2: 89,816,671	E109G	probably damaging	Het
Olfr530	T	A	7: 140,373,092	I173F	probably damaging	Het
Olfr809	A	T	10: 129,776,261	M116L	probably damaging	Het
Olfr828	T	C	9: 18,816,084	D70G	probably damaging	Het
Pcdhac2	A	G	18: 37,145,682	N572D	probably damaging	Het
Pi4kb	A	G	3: 94,984,764	R264G	probably benign	Het
Pla2g2c	T	A	4: 138,731,612	F10I	probably benign	Het
Rag2	G	A	2: 101,630,214	V290I	probably benign	Het
Rhot2	G	A	17: 25,841,141		probably benign	Het
Rps6kc1	T	C	1: 190,871,711	Y238C	probably damaging	Het
Scyl2	G	T	10: 89,652,968	A495D	possibly damaging	Het
Sept4	T	A	11: 87,585,245		probably benign	Het
Serpina5	G	T	12: 104,101,733	A18S	probably benign	Het
Slc25a11	T	C	11: 70,645,207	T234A	probably benign	Het
Slc44a2	C	T	9: 21,346,765	T435I	probably benign	Het
Tekt2	T	A	4: 126,324,867	Q31L	possibly damaging	Het
Tfpi	A	G	2: 84,444,045	V199A	possibly damaging	Het
Trap1	G	T	16: 4,044,701		probably null	Het
Trmt1	A	G	8: 84,695,233	Y213C	probably damaging	Het
Ubr4	C	T	4: 139,450,357	R3184*	probably null	Het
Uroc1	G	T	6: 90,363,103		probably benign	Het
Vmn1r19	A	G	6: 57,404,491	I10V	probably benign	Het
Zfhx2	G	A	14: 55,072,845	A748V	possibly damaging	Het

Other mutations in Pfpl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00930:Pfpl	APN	19	12429645	missense	probably benign	0.00
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
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

2016-08-02