Mutagenetix > Incidental Mutation

Incidental Mutation 'R8925:Plekhf1'

680183

Institutional Source

Beutler Lab

Gene Symbol

Plekhf1

Ensembl Gene

ENSMUSG00000074170

Gene Name

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

Synonyms

LAPF, 1810013P09Rik

MMRRC Submission

068708-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8925 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37920078-37927418 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 37920998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 190 (R190L)

Ref Sequence

ENSEMBL: ENSMUSP00000096113 (fasta)

Gene Model

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

AlphaFold

Q3TB82

Predicted Effect

probably damaging
Transcript: ENSMUST00000098513
AA Change: R190L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000096113
Gene: ENSMUSG00000074170
AA Change: R190L

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

95% (54/57)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	G	A	9: 57,165,805 (GRCm39)	R190*	probably null	Het
Aldh7a1	A	T	18: 56,660,060 (GRCm39)	S529T	probably benign	Het
Carmil2	T	G	8: 106,415,130 (GRCm39)	Y214*	probably null	Het
Ccdc136	A	G	6: 29,406,109 (GRCm39)	I152V	probably damaging	Het
Ccdc88c	T	C	12: 100,932,676 (GRCm39)	D285G	possibly damaging	Het
Clec4a3	T	A	6: 122,946,328 (GRCm39)	F191I	probably damaging	Het
Dlg5	A	T	14: 24,206,547 (GRCm39)	S1222T		Het
Dnaaf9	T	A	2: 130,579,300 (GRCm39)	R777*	probably null	Het
Dnah14	T	G	1: 181,508,321 (GRCm39)	L1833W	probably damaging	Het
Dsg2	T	C	18: 20,725,535 (GRCm39)	W549R	probably damaging	Het
Ezh2	A	T	6: 47,510,713 (GRCm39)	V632E	possibly damaging	Het
Fam83a	G	A	15: 57,873,313 (GRCm39)	V381M	probably benign	Het
Flacc1	A	T	1: 58,706,882 (GRCm39)		probably null	Het
Fmo2	T	C	1: 162,704,398 (GRCm39)	T503A	probably benign	Het
Foxo1	T	C	3: 52,252,703 (GRCm39)	F289L	probably damaging	Het
Gckr	A	G	5: 31,456,903 (GRCm39)	E96G	probably damaging	Het
Gm18596	G	A	10: 77,578,162 (GRCm39)	A104V	unknown	Het
Gm21680	A	T	5: 26,176,347 (GRCm39)	N83K	probably damaging	Het
Gnb5	T	C	9: 75,252,236 (GRCm39)	V393A	possibly damaging	Het
Grin2b	T	G	6: 135,749,339 (GRCm39)	Q621P	probably damaging	Het
Gtsf2	T	C	15: 103,352,783 (GRCm39)	I79V	probably benign	Het
Itga1	T	C	13: 115,105,055 (GRCm39)	I1040V	probably benign	Het
Kif2b	C	T	11: 91,468,023 (GRCm39)	E87K	probably benign	Het
Klk1b8	G	A	7: 43,604,206 (GRCm39)	G225S	probably damaging	Het
L3mbtl3	A	T	10: 26,220,084 (GRCm39)	C94S	unknown	Het
Man2c1	T	G	9: 57,048,456 (GRCm39)	Y872*	probably null	Het
Mical3	T	A	6: 120,984,325 (GRCm39)	M832L	probably benign	Het
Mrc2	A	G	11: 105,216,334 (GRCm39)	D41G	probably benign	Het
Nedd1	T	A	10: 92,558,258 (GRCm39)		probably benign	Het
Nefh	TTTGGCCTCAGCTGGTGACTTGGGCTCAGCTGGAGACTTGGCCTCACCTGGTGACTTG	TTTGGCCTCACCTGGTGACTTG	11: 4,890,530 (GRCm39)		probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Notch3	C	T	17: 32,372,792 (GRCm39)	R593Q	probably benign	Het
Nxpe3	T	G	16: 55,669,997 (GRCm39)	E369D	possibly damaging	Het
Obscn	T	A	11: 58,977,695 (GRCm39)	T1802S	possibly damaging	Het
Or1e33	A	T	11: 73,738,406 (GRCm39)	F182I	probably benign	Het
Or2a7	T	C	6: 43,151,669 (GRCm39)	F250L	probably benign	Het
Or4k51	A	T	2: 111,585,107 (GRCm39)	H171L	probably benign	Het
Or9s14	A	G	1: 92,536,438 (GRCm39)	N293S	probably damaging	Het
Oscar	A	C	7: 3,614,747 (GRCm39)	V75G	probably benign	Het
Pcdhb17	G	A	18: 37,620,372 (GRCm39)	A721T	probably benign	Het
Pcnx2	T	C	8: 126,614,659 (GRCm39)	Y264C	probably benign	Het
Pear1	G	T	3: 87,661,890 (GRCm39)	A495D	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Plppr5	T	C	3: 117,369,532 (GRCm39)	V63A	probably benign	Het
Pyroxd1	T	A	6: 142,300,437 (GRCm39)	F189Y	probably damaging	Het
Rab13	C	T	3: 90,128,120 (GRCm39)		probably benign	Het
Rptor	C	T	11: 119,782,036 (GRCm39)	T1121I	probably benign	Het
Scgb2b7	T	C	7: 31,404,602 (GRCm39)	S33G	probably benign	Het
Slc25a36	A	G	9: 96,982,126 (GRCm39)		probably null	Het
Smc1b	A	T	15: 84,991,273 (GRCm39)		probably null	Het
Smtn	T	A	11: 3,479,477 (GRCm39)	H530L	possibly damaging	Het
Srrt	C	T	5: 137,297,070 (GRCm39)	C411Y	probably benign	Het
Stag1	C	A	9: 100,587,298 (GRCm39)	P7Q	possibly damaging	Het
Tarm1	G	A	7: 3,537,719 (GRCm39)	T248I	possibly damaging	Het
Tektl1	T	C	10: 78,588,258 (GRCm39)	Y184C	probably damaging	Het
Trim6	C	T	7: 103,881,655 (GRCm39)	A328V	probably benign	Het
Vmn1r189	T	C	13: 22,286,811 (GRCm39)	I9V	probably benign	Het
Vmn2r93	A	G	17: 18,546,500 (GRCm39)	T791A	probably damaging	Het
Vsig10l	A	G	7: 43,116,020 (GRCm39)	T454A	probably benign	Het

Other mutations in Plekhf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01373:Plekhf1	APN	7	37,921,221 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- ATCGTCATCGCCACTGGATG -3'
(R):5'- CAAGAAGTCCTTTGTGGTGTCG -3'

Sequencing Primer
(F):5'- CTGGATGCACCACAGACAGTG -3'
(R):5'- CCACATCGAAGAGTGTGTGC -3'

Posted On

2021-08-31