Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01373:Plekhf1'

84083

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plekhf1

Ensembl Gene

ENSMUSG00000074170

Gene Name

pleckstrin homology domain containing, family F (with FYVE domain) member 1

Synonyms

LAPF, 1810013P09Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01373

Quality Score

Status

Chromosome

Chromosomal Location

37920078-37927418 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37921221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 116 (T116A)

Ref Sequence

ENSEMBL: ENSMUSP00000096113 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098513]

AlphaFold

Q3TB82

Predicted Effect

probably benign
Transcript: ENSMUST00000098513
AA Change: T116A

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

SMART Domains

Protein: ENSMUSP00000096113
Gene: ENSMUSG00000074170
AA Change: T116A

Domain	Start	End	E-Value	Type
PH	36	133	9.05e-12	SMART
FYVE	144	213	1.52e-24	SMART
low complexity region	240	260	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	C	T	7: 119,310,642 (GRCm39)	R510*	probably null	Het
Adamts12	A	T	15: 11,310,816 (GRCm39)	E1024D	probably benign	Het
Aff2	T	A	X: 68,911,335 (GRCm39)	D1239E	possibly damaging	Het
Agps	T	C	2: 75,683,128 (GRCm39)	V151A	probably benign	Het
Cables1	A	T	18: 12,021,821 (GRCm39)	R276S	probably damaging	Het
Cep72	A	G	13: 74,207,578 (GRCm39)	S64P	probably damaging	Het
Cmah	A	T	13: 24,614,532 (GRCm39)	D159V	probably damaging	Het
Cox6a1	C	A	5: 115,483,898 (GRCm39)		probably benign	Het
Cpxm1	T	C	2: 130,236,055 (GRCm39)	E369G	probably damaging	Het
Dnah6	A	G	6: 73,051,731 (GRCm39)	L3021P	probably benign	Het
Esyt1	T	C	10: 128,354,810 (GRCm39)	E530G	possibly damaging	Het
Fancd2	A	G	6: 113,530,713 (GRCm39)	I449V	probably benign	Het
Fbxw24	C	T	9: 109,452,701 (GRCm39)	G98D	probably damaging	Het
Folh1	T	C	7: 86,395,350 (GRCm39)	I361V	probably benign	Het
Gpr19	T	A	6: 134,847,284 (GRCm39)	H41L	possibly damaging	Het
Kcnq4	A	G	4: 120,574,229 (GRCm39)	V143A	probably damaging	Het
Larp7-ps	A	G	4: 92,079,862 (GRCm39)	V42A	probably damaging	Het
Lmcd1	A	G	6: 112,287,586 (GRCm39)	I91V	probably benign	Het
Lpin3	G	T	2: 160,745,649 (GRCm39)	D651Y	probably damaging	Het
Ms4a6b	A	T	19: 11,506,871 (GRCm39)	H220L	possibly damaging	Het
Mxd4	G	A	5: 34,341,690 (GRCm39)		probably benign	Het
Nxnl2	T	C	13: 51,325,488 (GRCm39)	F44L	probably damaging	Het
Or11g2	T	A	14: 50,856,069 (GRCm39)	I130N	probably damaging	Het
Or2ag16	T	C	7: 106,351,653 (GRCm39)		probably benign	Het
Pcdhb20	A	T	18: 37,639,621 (GRCm39)	R716W	probably benign	Het
Pcx	T	A	19: 4,670,263 (GRCm39)		probably null	Het
Psmb2	G	T	4: 126,580,885 (GRCm39)	R93L	probably damaging	Het
Pstpip2	T	A	18: 77,922,916 (GRCm39)	L42*	probably null	Het
Ptpn22	A	T	3: 103,793,520 (GRCm39)	D557V	probably damaging	Het
Rbbp5	G	A	1: 132,420,339 (GRCm39)	V191I	probably benign	Het
Rgs1	T	A	1: 144,121,116 (GRCm39)	D185V	probably damaging	Het
Selenoh	A	G	2: 84,500,938 (GRCm39)		probably benign	Het
Slc6a5	C	T	7: 49,567,481 (GRCm39)	P312S	probably benign	Het
Snapc1	T	A	12: 74,011,454 (GRCm39)	M40K	probably benign	Het
Sptbn2	T	G	19: 4,796,000 (GRCm39)	Y1726*	probably null	Het
Syne2	T	C	12: 76,033,881 (GRCm39)	I3710T	probably damaging	Het
Tdrd9	G	A	12: 112,006,868 (GRCm39)	V911M	probably damaging	Het
Tex9	A	T	9: 72,388,036 (GRCm39)	D134E	possibly damaging	Het
Ttc41	G	T	10: 86,611,821 (GRCm39)	C1063F	possibly damaging	Het
Usp38	C	A	8: 81,716,647 (GRCm39)	A496S	possibly damaging	Het
Vmn2r13	T	A	5: 109,304,568 (GRCm39)	Y621F	probably damaging	Het
Vmn2r67	T	A	7: 84,785,834 (GRCm39)	M724L	probably benign	Het

Other mutations in Plekhf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01997:Plekhf1	APN	7	37,920,752 (GRCm39)	missense	probably damaging	0.97
IGL03237:Plekhf1	APN	7	37,920,799 (GRCm39)	missense	probably benign
R0671:Plekhf1	UTSW	7	37,920,826 (GRCm39)	missense	probably benign	0.00
R1026:Plekhf1	UTSW	7	37,921,065 (GRCm39)	missense	probably benign	0.10
R3085:Plekhf1	UTSW	7	37,921,001 (GRCm39)	missense	probably benign
R4764:Plekhf1	UTSW	7	37,921,022 (GRCm39)	missense	probably damaging	1.00
R5907:Plekhf1	UTSW	7	37,921,594 (GRCm39)	splice site	probably null
R6291:Plekhf1	UTSW	7	37,921,029 (GRCm39)	missense	possibly damaging	0.69
R6785:Plekhf1	UTSW	7	37,921,488 (GRCm39)	nonsense	probably null
R7356:Plekhf1	UTSW	7	37,921,545 (GRCm39)	missense	possibly damaging	0.67
R7601:Plekhf1	UTSW	7	37,921,304 (GRCm39)	missense	probably damaging	1.00
R8544:Plekhf1	UTSW	7	37,920,768 (GRCm39)	missense	probably damaging	1.00
R8716:Plekhf1	UTSW	7	37,921,322 (GRCm39)	missense	probably damaging	1.00
R8851:Plekhf1	UTSW	7	37,921,466 (GRCm39)	missense	probably damaging	1.00
R8925:Plekhf1	UTSW	7	37,920,998 (GRCm39)	missense	probably damaging	0.99
R8927:Plekhf1	UTSW	7	37,920,998 (GRCm39)	missense	probably damaging	0.99
R9377:Plekhf1	UTSW	7	37,921,203 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-11