Mutagenetix > Incidental Mutation

Incidental Mutation 'R1955:Plekha4'

217674

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

039969-MU

Accession Numbers

Essential gene?

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

Stock #

R1955 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45175754-45203653 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45203330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 740 (G740D)

Ref Sequence

ENSEMBL: ENSMUSP00000148229 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051810] [ENSMUST00000107752] [ENSMUST00000209517] [ENSMUST00000210300] [ENSMUST00000211155] [ENSMUST00000211797] [ENSMUST00000211227]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000051810
AA Change: G740D

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

SMART Domains

Protein: ENSMUSP00000051468
Gene: ENSMUSG00000040428
AA Change: G740D

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 benign
Transcript: ENSMUST00000107752

SMART Domains

Protein: ENSMUSP00000103381
Gene: ENSMUSG00000030825

Domain	Start	End	E-Value	Type
Pfam:KR	10	187	4.3e-12	PFAM
Pfam:adh_short	10	200	2.9e-53	PFAM
Pfam:Epimerase	12	184	4.2e-7	PFAM
Pfam:adh_short_C2	16	250	8.3e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000121932
AA Change: G740D

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

SMART Domains

Protein: ENSMUSP00000113802
Gene: ENSMUSG00000040428
AA Change: G740D

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: G740D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000210300

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210460

Predicted Effect

probably benign
Transcript: ENSMUST00000210797

Predicted Effect

unknown
Transcript: ENSMUST00000211348
AA Change: A73T

Predicted Effect

probably benign
Transcript: ENSMUST00000211155

Predicted Effect

probably benign
Transcript: ENSMUST00000211797

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211106

Predicted Effect

probably benign
Transcript: ENSMUST00000211227

Predicted Effect

probably benign
Transcript: ENSMUST00000210997

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	T	A	1: 53,202,400 (GRCm39)	K128N	probably benign	Het
Acadm	A	C	3: 153,635,188 (GRCm39)	F309V	probably damaging	Het
Adam6b	C	A	12: 113,455,436 (GRCm39)	A751E	probably benign	Het
Adcy9	A	G	16: 4,236,523 (GRCm39)	I296T	possibly damaging	Het
Arhgap45	A	G	10: 79,862,326 (GRCm39)	E471G	probably benign	Het
Atcay	T	C	10: 81,050,627 (GRCm39)	D96G	possibly damaging	Het
B3galt4	T	A	17: 34,169,606 (GRCm39)	R211*	probably null	Het
Bpi	T	C	2: 158,116,635 (GRCm39)	I344T	probably damaging	Het
Btnl4	T	C	17: 34,691,904 (GRCm39)	K233E	possibly damaging	Het
Cars2	A	T	8: 11,600,286 (GRCm39)	Y68N	probably damaging	Het
Cd207	T	A	6: 83,648,757 (GRCm39)	R302W	probably benign	Het
Cdc5l	T	C	17: 45,737,442 (GRCm39)		probably null	Het
Chaf1a	C	T	17: 56,354,540 (GRCm39)	T270I	unknown	Het
Col4a1	C	T	8: 11,258,228 (GRCm39)		probably null	Het
Col7a1	G	T	9: 108,784,732 (GRCm39)	V187L	unknown	Het
Cry1	G	A	10: 84,980,042 (GRCm39)	T422I	probably benign	Het
Csgalnact1	C	T	8: 68,825,319 (GRCm39)	V392I	probably benign	Het
Cyp2c38	A	G	19: 39,393,131 (GRCm39)	L312P	probably damaging	Het
Ddx20	G	A	3: 105,586,878 (GRCm39)	T489M	possibly damaging	Het
Decr1	A	T	4: 15,924,256 (GRCm39)	N221K	probably benign	Het
Dennd4a	A	T	9: 64,759,749 (GRCm39)	T285S	probably benign	Het
Dgka	A	G	10: 128,566,058 (GRCm39)		probably null	Het
Dmd	A	T	X: 82,922,163 (GRCm39)	M1478L	probably benign	Het
Dvl1	G	A	4: 155,942,486 (GRCm39)	R584Q	possibly damaging	Het
Dync1li1	A	T	9: 114,550,814 (GRCm39)	S450C	probably damaging	Het
Ehbp1l1	A	G	19: 5,760,697 (GRCm39)	V1558A	possibly damaging	Het
Esr1	T	A	10: 4,807,125 (GRCm39)	M347K	probably damaging	Het
F2	T	A	2: 91,463,440 (GRCm39)	H148L	probably benign	Het
Fezf2	T	C	14: 12,342,644 (GRCm38)	N407S	probably benign	Het
Fscn3	T	A	6: 28,430,235 (GRCm39)	M135K	possibly damaging	Het
Ganab	T	G	19: 8,888,980 (GRCm39)	Y560*	probably null	Het
Garem2	T	C	5: 30,313,268 (GRCm39)	V44A	probably benign	Het
Gja4	A	G	4: 127,206,242 (GRCm39)	W174R	probably damaging	Het
Gja5	A	T	3: 96,958,957 (GRCm39)	H338L	probably benign	Het
Gm43517	A	G	12: 49,436,672 (GRCm39)		probably benign	Het
Iqch	A	T	9: 63,455,298 (GRCm39)	D166E	probably benign	Het
Kifc5b	T	A	17: 27,145,271 (GRCm39)		probably null	Het
Kmt2b	A	T	7: 30,274,776 (GRCm39)	M1976K	possibly damaging	Het
Leng1	A	T	7: 3,668,415 (GRCm39)	V11D	probably damaging	Het
Lrit3	A	G	3: 129,594,130 (GRCm39)	V149A	probably benign	Het
Lrpap1	A	G	5: 35,259,756 (GRCm39)	L114P	probably damaging	Het
Marveld3	T	A	8: 110,686,380 (GRCm39)	D162V	probably benign	Het
Mon2	A	T	10: 122,874,388 (GRCm39)	I320N	probably damaging	Het
Morc2b	T	C	17: 33,356,464 (GRCm39)	Y436C	probably damaging	Het
Myo7a	A	T	7: 97,704,128 (GRCm39)	V1928D	probably damaging	Het
Ncoa6	A	G	2: 155,248,741 (GRCm39)	V1521A	possibly damaging	Het
Nexmif	A	G	X: 103,127,559 (GRCm39)	S1453P	possibly damaging	Het
Nudt16l1	A	G	16: 4,758,189 (GRCm39)	M182V	probably benign	Het
Obp2b	A	T	2: 25,628,563 (GRCm39)	I106L	probably benign	Het
Or10ag59	T	A	2: 87,406,349 (GRCm39)	L307Q	probably damaging	Het
Or4a2	T	A	2: 89,248,755 (GRCm39)	M1L	probably damaging	Het
Or5h18	T	A	16: 58,847,774 (GRCm39)	R165S	probably damaging	Het
Or8b43	T	C	9: 38,360,984 (GRCm39)	I272T	probably benign	Het
Parl	T	A	16: 20,121,077 (GRCm39)	M1L	possibly damaging	Het
Pde7a	G	A	3: 19,281,963 (GRCm39)	A429V	probably damaging	Het
Pkd1l2	T	A	8: 117,770,100 (GRCm39)	M1119L	probably benign	Het
Plch1	C	T	3: 63,662,688 (GRCm39)	V272I	probably damaging	Het
Pnliprp1	A	G	19: 58,723,404 (GRCm39)	D265G	possibly damaging	Het
Pola1	A	C	X: 92,640,867 (GRCm39)	V384G	probably damaging	Het
Pon3	T	A	6: 5,230,774 (GRCm39)	D251V	probably benign	Het
Pot1b	A	G	17: 55,981,067 (GRCm39)	C316R	possibly damaging	Het
Prkaca	T	A	8: 84,714,946 (GRCm39)	V116E	probably damaging	Het
Prpf6	T	G	2: 181,273,870 (GRCm39)	M338R	probably benign	Het
Rasgef1c	A	G	11: 49,866,542 (GRCm39)	H382R	possibly damaging	Het
Rlig1	A	G	10: 100,413,166 (GRCm39)	V91A	probably damaging	Het
Rps25	C	T	9: 44,321,305 (GRCm39)	T113I	probably benign	Het
Serpinb1b	G	T	13: 33,269,422 (GRCm39)	A52S	probably benign	Het
Sh3yl1	A	G	12: 30,972,332 (GRCm39)	K34E	possibly damaging	Het
Siah2	C	T	3: 58,583,518 (GRCm39)	R256Q	probably damaging	Het
Slc24a2	A	G	4: 86,991,481 (GRCm39)	L404P	probably damaging	Het
Slc28a2	G	A	2: 122,278,347 (GRCm39)	C122Y	probably benign	Het
Slc4a8	T	C	15: 100,705,257 (GRCm39)	I821T	probably damaging	Het
Slc5a3	T	C	16: 91,874,762 (GRCm39)	V273A	possibly damaging	Het
Spag7	T	C	11: 70,555,844 (GRCm39)	Q61R	probably benign	Het
Syt7	A	T	19: 10,395,402 (GRCm39)	I71F	probably damaging	Het
Tars2	T	C	3: 95,654,766 (GRCm39)	N413S	probably damaging	Het
Tex14	T	A	11: 87,400,447 (GRCm39)	L413Q	probably damaging	Het
Tjp3	T	C	10: 81,113,833 (GRCm39)	E475G	probably damaging	Het
Tmem131l	A	G	3: 83,868,851 (GRCm39)	S175P	probably damaging	Het
Tmem144	C	T	3: 79,734,164 (GRCm39)	V180M	probably benign	Het
Tmem200c	A	T	17: 69,147,956 (GRCm39)	I180F	probably damaging	Het
Tmem232	G	T	17: 65,791,482 (GRCm39)	H129N	probably benign	Het
Tmprss11g	T	A	5: 86,646,391 (GRCm39)	I59F	probably damaging	Het
Tmprss2	T	A	16: 97,368,377 (GRCm39)		probably null	Het
Tor1aip2	T	A	1: 155,927,588 (GRCm39)		probably benign	Het
Trim61	T	C	8: 65,466,044 (GRCm39)	I406V	possibly damaging	Het
Trpv5	T	C	6: 41,634,871 (GRCm39)	D486G	probably damaging	Het
Try5	T	C	6: 41,288,703 (GRCm39)	E64G	probably benign	Het
Txlnb	A	G	10: 17,675,168 (GRCm39)	E107G	probably damaging	Het
Ube2frt	A	G	12: 36,140,595 (GRCm39)		probably benign	Het
Uckl1	T	C	2: 181,212,320 (GRCm39)	Q332R	probably benign	Het
Ugt2b1	T	C	5: 87,065,572 (GRCm39)	Y489C	probably damaging	Het
Ugt2b5	T	A	5: 87,275,631 (GRCm39)	M407L	probably benign	Het
Vmn1r191	A	T	13: 22,362,985 (GRCm39)	S256R	possibly damaging	Het
Vps13b	T	G	15: 35,925,554 (GRCm39)		probably null	Het
Vps13d	A	G	4: 144,882,713 (GRCm39)	F960S	probably damaging	Het
Xab2	T	A	8: 3,666,094 (GRCm39)	D227V	probably damaging	Het
Xaf1	A	T	11: 72,197,432 (GRCm39)	D136V	possibly damaging	Het
Zan	A	G	5: 137,387,545 (GRCm39)	S4889P	unknown	Het
Zfp78	A	G	7: 6,381,558 (GRCm39)	T203A	probably benign	Het
Zfp821	T	C	8: 110,447,874 (GRCm39)	S72P	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
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
R6776:Plekha4	UTSW	7	45,184,241 (GRCm39)	missense	probably damaging	1.00
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'- GAAGCCTGGAAGTGTGGATGTC -3'
(R):5'- GAATGAACCTCTCCCCTGTG -3'

Sequencing Primer
(F):5'- CACGTGATTAAGTTAACACTGCTCC -3'
(R):5'- TGGTCCTGAATGGTCCCACAC -3'

Posted On

2014-08-01