Mutagenetix > Incidental Mutation

Incidental Mutation 'R6776:Plekha4'

531294

Institutional Source

Beutler Lab

Gene Symbol

Plekha4

Ensembl Gene

ENSMUSG00000040428

Gene Name

pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4

Synonyms

2410005C22Rik, PEPP1

MMRRC Submission

044892-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R6776 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45175754-45203653 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 45184241 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 76 (A76E)

Ref Sequence

ENSEMBL: ENSMUSP00000147344 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051810] [ENSMUST00000209517] [ENSMUST00000210480] [ENSMUST00000211155] [ENSMUST00000211227] [ENSMUST00000211797]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000051810
AA Change: A147E

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

SMART Domains

Protein: ENSMUSP00000051468
Gene: ENSMUSG00000040428
AA Change: A147E

Domain	Start	End	E-Value	Type
low complexity region	8	27	N/A	INTRINSIC
PH	55	155	8.18e-19	SMART
low complexity region	162	190	N/A	INTRINSIC
low complexity region	228	260	N/A	INTRINSIC
low complexity region	292	303	N/A	INTRINSIC
low complexity region	321	334	N/A	INTRINSIC
coiled coil region	376	419	N/A	INTRINSIC
low complexity region	519	535	N/A	INTRINSIC
low complexity region	608	628	N/A	INTRINSIC
low complexity region	649	659	N/A	INTRINSIC
low complexity region	706	719	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000209517
AA Change: A147E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000210480

Predicted Effect

probably damaging
Transcript: ENSMUST00000211155
AA Change: A147E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000211227
AA Change: A147E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000211797
AA Change: A76E

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	A	G	8: 10,038,075 (GRCm39)	H224R	probably benign	Het
Anapc10	T	C	8: 80,446,374 (GRCm39)	F68S	probably damaging	Het
Arid2	A	G	15: 96,268,830 (GRCm39)	N981S	probably benign	Het
Bmerb1	T	A	16: 13,804,670 (GRCm39)	S6T	possibly damaging	Het
Cfap73	A	G	5: 120,772,276 (GRCm39)	F9L	probably damaging	Het
Chd3	A	C	11: 69,245,296 (GRCm39)	L1141V	probably damaging	Het
Daam1	C	T	12: 72,036,582 (GRCm39)	L1052F	possibly damaging	Het
Dmxl1	C	T	18: 50,027,041 (GRCm39)	R2050C	probably damaging	Het
Dpp10	G	A	1: 123,295,385 (GRCm39)	Q552*	probably null	Het
Dysf	A	G	6: 84,041,876 (GRCm39)	D160G	possibly damaging	Het
Ecrg4	C	A	1: 43,781,551 (GRCm39)	N144K	probably damaging	Het
Firrm	T	C	1: 163,804,318 (GRCm39)	I338M	probably damaging	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,052,926 (GRCm39)		probably benign	Het
Ftcd	T	C	10: 76,425,073 (GRCm39)	I518T	probably benign	Het
Gapdh	A	G	6: 125,139,236 (GRCm39)	S248P	probably damaging	Het
Gm5592	C	G	7: 40,939,153 (GRCm39)	P812A	probably damaging	Het
Grik2	G	A	10: 49,232,085 (GRCm39)	L482F	probably damaging	Het
Gzmg	C	T	14: 56,394,288 (GRCm39)	G202D	probably damaging	Het
Hectd4	G	A	5: 121,491,574 (GRCm39)	A3671T	possibly damaging	Het
Hexa	G	T	9: 59,465,355 (GRCm39)	W203C	probably damaging	Het
Igdcc4	A	T	9: 65,042,700 (GRCm39)	T1217S	probably benign	Het
Ipo7	A	G	7: 109,646,272 (GRCm39)	D557G	probably damaging	Het
Irx3	T	A	8: 92,526,463 (GRCm39)	T414S	probably benign	Het
Jakmip1	G	A	5: 37,344,498 (GRCm39)	E1313K	probably damaging	Het
Kbtbd12	T	C	6: 88,595,248 (GRCm39)	D194G	probably damaging	Het
Klk6	T	C	7: 43,476,298 (GRCm39)	L46P	probably damaging	Het
Krt86	T	C	15: 101,374,817 (GRCm39)	I329T	probably benign	Het
Mroh5	A	G	15: 73,661,817 (GRCm39)		probably null	Het
Mtrf1	T	C	14: 79,650,521 (GRCm39)	V323A	probably damaging	Het
Oas3	A	T	5: 120,896,939 (GRCm39)	I894N	probably damaging	Het
Oplah	C	T	15: 76,185,053 (GRCm39)	V887I	possibly damaging	Het
Pag1	T	C	3: 9,764,848 (GRCm39)	T102A	probably benign	Het
Pcnx1	C	T	12: 82,009,496 (GRCm39)	A1181V	possibly damaging	Het
Pkdrej	G	T	15: 85,701,510 (GRCm39)	Y1475*	probably null	Het
Pla2g5	A	G	4: 138,527,964 (GRCm39)	S101P	probably benign	Het
Plk2	T	C	13: 110,536,325 (GRCm39)	I592T	probably benign	Het
Ppp2r3c	T	A	12: 55,345,252 (GRCm39)	R79*	probably null	Het
Ppp2r3d	A	T	9: 101,090,061 (GRCm39)	H87Q	probably benign	Het
Prpf40b	C	T	15: 99,212,784 (GRCm39)	R627W	probably damaging	Het
Prrt4	G	T	6: 29,176,551 (GRCm39)	T258K	possibly damaging	Het
Rhpn2	T	A	7: 35,083,194 (GRCm39)		probably null	Het
Slc11a1	T	A	1: 74,423,244 (GRCm39)	I365N	probably damaging	Het
Slc7a7	C	T	14: 54,612,108 (GRCm39)	G265D	possibly damaging	Het
Thsd7a	T	A	6: 12,555,636 (GRCm39)	T83S	possibly damaging	Het
Tln2	A	G	9: 67,170,187 (GRCm39)	S1989P	probably damaging	Het
Tnfaip3	T	G	10: 18,881,324 (GRCm39)	T321P	probably benign	Het
Tnrc6b	C	T	15: 80,808,320 (GRCm39)	P1623L	possibly damaging	Het
Trpa1	T	C	1: 14,982,601 (GRCm39)	N85S	probably benign	Het
Trrap	C	T	5: 144,788,066 (GRCm39)	R3544*	probably null	Het
Ttf2	A	T	3: 100,859,869 (GRCm39)	V695E	probably benign	Het
Ttll4	A	G	1: 74,720,512 (GRCm39)	E509G	probably damaging	Het
Vdr	T	C	15: 97,767,709 (GRCm39)	I94V	probably damaging	Het
Wdfy3	G	T	5: 102,031,911 (GRCm39)	Q2304K	possibly damaging	Het
Zfp663	T	C	2: 165,200,935 (GRCm39)	Y33C	probably damaging	Het

Other mutations in Plekha4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Plekha4	APN	7	45,187,659 (GRCm39)	missense	probably damaging	0.97
IGL01716:Plekha4	APN	7	45,183,767 (GRCm39)	missense	probably damaging	0.98
IGL02072:Plekha4	APN	7	45,187,722 (GRCm39)	missense	probably benign	0.29
IGL02815:Plekha4	APN	7	45,187,836 (GRCm39)	missense	probably damaging	1.00
IGL02939:Plekha4	APN	7	45,181,787 (GRCm39)	nonsense	probably null
PIT4494001:Plekha4	UTSW	7	45,197,503 (GRCm39)	missense	probably damaging	1.00
R0085:Plekha4	UTSW	7	45,193,373 (GRCm39)	nonsense	probably null
R0239:Plekha4	UTSW	7	45,181,782 (GRCm39)	missense	probably damaging	1.00
R0239:Plekha4	UTSW	7	45,181,782 (GRCm39)	missense	probably damaging	1.00
R1036:Plekha4	UTSW	7	45,199,400 (GRCm39)	splice site	probably benign
R1955:Plekha4	UTSW	7	45,203,330 (GRCm39)	missense	probably damaging	0.99
R2049:Plekha4	UTSW	7	45,203,222 (GRCm39)	missense	probably benign	0.01
R2187:Plekha4	UTSW	7	45,198,698 (GRCm39)	missense	probably damaging	0.99
R2888:Plekha4	UTSW	7	45,187,668 (GRCm39)	missense	probably damaging	1.00
R5086:Plekha4	UTSW	7	45,203,082 (GRCm39)	missense	possibly damaging	0.82
R5357:Plekha4	UTSW	7	45,184,195 (GRCm39)	missense	probably damaging	1.00
R5604:Plekha4	UTSW	7	45,198,580 (GRCm39)	missense	probably damaging	0.96
R5611:Plekha4	UTSW	7	45,203,065 (GRCm39)	missense	probably benign
R6255:Plekha4	UTSW	7	45,203,226 (GRCm39)	utr 3 prime	probably benign
R6341:Plekha4	UTSW	7	45,190,572 (GRCm39)	missense	probably damaging	1.00
R6502:Plekha4	UTSW	7	45,180,000 (GRCm39)	start codon destroyed	probably null	0.87
R6720:Plekha4	UTSW	7	45,190,310 (GRCm39)	missense	possibly damaging	0.86
R8057:Plekha4	UTSW	7	45,198,695 (GRCm39)	missense	probably benign
R9095:Plekha4	UTSW	7	45,190,492 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCGATTCACCTTCACAGTG -3'
(R):5'- TAGGCAGATCTTAAAAGAGAACCCC -3'

Sequencing Primer
(F):5'- CTAGTTAGGTGGTAGGTGGGAAC -3'
(R):5'- AGAGAACCCCTTTTTGCTATTGGAG -3'

Posted On

2018-08-29