Mutagenetix > Incidental Mutation

Incidental Mutation 'R1694:Plekhd1'

192052

Institutional Source

Beutler Lab

Gene Symbol

Plekhd1

Ensembl Gene

ENSMUSG00000066438

Gene Name

pleckstrin homology domain containing, family D (with coiled-coil domains) member 1

Synonyms

3830431G21Rik

MMRRC Submission

039727-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R1694 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80739375-80770990 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80769095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 452 (K452E)

Ref Sequence

ENSEMBL: ENSMUSP00000119711 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000140770]

AlphaFold

B2RPU2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140770
AA Change: K452E

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119711
Gene: ENSMUSG00000066438
AA Change: K452E

Domain	Start	End	E-Value	Type
low complexity region	4	14	N/A	INTRINSIC
PH	29	138	9.19e-13	SMART
coiled coil region	146	392	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142760

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152465

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153762

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513I03Rik	T	C	10: 120,614,533 (GRCm39)		probably benign	Het
4930447C04Rik	C	T	12: 72,931,992 (GRCm39)		probably null	Het
Abca16	A	G	7: 120,119,307 (GRCm39)	H1017R	probably damaging	Het
Actl11	A	G	9: 107,807,207 (GRCm39)	Y510C	probably damaging	Het
Agbl2	A	G	2: 90,631,664 (GRCm39)	T341A	probably damaging	Het
Agbl5	A	G	5: 31,050,726 (GRCm39)	Y458C	probably damaging	Het
Akap5	C	T	12: 76,376,698 (GRCm39)	S710L	probably damaging	Het
Akr1c21	A	G	13: 4,625,177 (GRCm39)	E36G	probably damaging	Het
Arhgap44	A	G	11: 64,944,023 (GRCm39)	S163P	probably damaging	Het
Armc1	A	G	3: 19,189,050 (GRCm39)	V205A	possibly damaging	Het
Asph	A	G	4: 9,610,869 (GRCm39)	L102P	probably damaging	Het
Brca1	T	C	11: 101,422,925 (GRCm39)	E74G	probably damaging	Het
Brms1l	A	G	12: 55,888,385 (GRCm39)	R58G	probably damaging	Het
C1qbp	G	T	11: 70,869,073 (GRCm39)		probably null	Het
Calcrl	A	T	2: 84,169,631 (GRCm39)	L350H	probably damaging	Het
Casr	A	T	16: 36,315,953 (GRCm39)	F706I	probably damaging	Het
Ceacam10	T	A	7: 24,480,491 (GRCm39)	N87K	probably benign	Het
Cfap206	G	T	4: 34,719,058 (GRCm39)	T316K	probably damaging	Het
Col4a3	A	T	1: 82,668,384 (GRCm39)		probably null	Het
Comtd1	A	G	14: 21,897,398 (GRCm39)	V183A	probably damaging	Het
Crygs	A	T	16: 22,625,425 (GRCm39)		probably null	Het
Dact1	C	A	12: 71,359,551 (GRCm39)	T139K	probably damaging	Het
Dlx6	T	C	6: 6,867,173 (GRCm39)	W259R	probably damaging	Het
Dnah9	G	T	11: 65,845,650 (GRCm39)	S627*	probably null	Het
Dnajc11	T	A	4: 152,063,730 (GRCm39)	V442D	probably damaging	Het
Dnajc21	A	T	15: 10,451,649 (GRCm39)	S393T	probably benign	Het
Dpysl3	C	A	18: 43,461,439 (GRCm39)	C584F	possibly damaging	Het
Efcab14	A	G	4: 115,603,736 (GRCm39)	K138R	possibly damaging	Het
Ephb3	A	G	16: 21,040,495 (GRCm39)	E577G	probably damaging	Het
Exoc3	C	T	13: 74,338,184 (GRCm39)		probably null	Het
Fam171a1	A	G	2: 3,226,660 (GRCm39)	S473G	probably benign	Het
Fbxl2	A	T	9: 113,832,239 (GRCm39)	F58L	probably damaging	Het
Fmo6	T	C	1: 162,750,241 (GRCm39)	M272V	probably benign	Het
Gm10000	T	C	12: 104,442,859 (GRCm39)		probably benign	Het
Grik1	T	A	16: 87,746,956 (GRCm39)	D442V	probably damaging	Het
Hectd1	A	G	12: 51,791,375 (GRCm39)	Y2588H	probably damaging	Het
Insrr	A	C	3: 87,711,369 (GRCm39)	T430P	probably benign	Het
Lats1	T	C	10: 7,577,709 (GRCm39)	S278P	probably benign	Het
Lrch4	A	G	5: 137,636,723 (GRCm39)	T463A	probably benign	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Lyst	T	G	13: 13,835,746 (GRCm39)	F1809L	probably damaging	Het
Mad2l1bp	A	G	17: 46,463,770 (GRCm39)	Y85H	possibly damaging	Het
Magoh	G	T	4: 107,740,362 (GRCm39)	R82L	probably benign	Het
Mdfic2	A	C	6: 98,215,100 (GRCm39)	S174R	probably damaging	Het
Mlh1	A	G	9: 111,057,543 (GRCm39)	V756A	probably damaging	Het
Mlh3	T	C	12: 85,313,915 (GRCm39)	E757G	probably damaging	Het
Mycbp2	T	C	14: 103,464,947 (GRCm39)	T1339A	probably damaging	Het
Myh7b	A	T	2: 155,455,113 (GRCm39)	E46V	probably damaging	Het
Naalad2	T	A	9: 18,238,683 (GRCm39)	R677S	probably damaging	Het
Nadsyn1	G	A	7: 143,361,749 (GRCm39)	T324I	probably benign	Het
Neo1	A	T	9: 58,787,886 (GRCm39)	L1389Q	probably damaging	Het
Nlrp1b	A	G	11: 71,107,681 (GRCm39)		probably null	Het
Nup210	A	C	6: 91,039,785 (GRCm39)	I690S	probably benign	Het
Or55b3	A	T	7: 102,126,547 (GRCm39)	S177T	probably benign	Het
Or5an11	T	A	19: 12,246,281 (GRCm39)	I229N	probably damaging	Het
Or9r7	T	A	10: 129,962,123 (GRCm39)	I268F	possibly damaging	Het
Otud7a	C	A	7: 63,383,458 (GRCm39)	H316N	probably damaging	Het
Pcdh15	T	C	10: 74,429,995 (GRCm39)	S1241P	probably damaging	Het
Pclo	A	G	5: 14,570,977 (GRCm39)	K121E	probably damaging	Het
Pcmtd1	A	T	1: 7,217,872 (GRCm39)	I107L	probably benign	Het
Pde6c	A	G	19: 38,168,673 (GRCm39)	I755V	probably damaging	Het
Pes1	CGGAGGAGGAGGAGGAGGAGGAGG	CGGAGGAGGAGGAGGAGGAGG	11: 3,927,719 (GRCm39)		probably benign	Het
Pi4ka	A	T	16: 17,113,240 (GRCm39)	I1532N	probably damaging	Het
Pla2r1	A	G	2: 60,271,428 (GRCm39)		probably null	Het
Plb1	A	G	5: 32,474,621 (GRCm39)	N661S	probably null	Het
Prr12	C	A	7: 44,678,003 (GRCm39)	V2003F	unknown	Het
Ptger1	G	A	8: 84,395,107 (GRCm39)	G195R	probably benign	Het
Ptpn4	T	C	1: 119,711,240 (GRCm39)	Q67R	probably damaging	Het
Rgsl1	C	T	1: 153,680,422 (GRCm39)	R760H	probably damaging	Het
Rock1	A	G	18: 10,136,094 (GRCm39)		probably null	Het
Rtn1	T	C	12: 72,270,298 (GRCm39)	Y71C	probably damaging	Het
Rtp4	T	C	16: 23,431,870 (GRCm39)	*62Q	probably null	Het
Scaf4	GGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTG	16: 90,026,745 (GRCm39)		probably benign	Het
Scimp	G	T	11: 70,684,618 (GRCm39)	P78H	probably damaging	Het
Scn8a	C	A	15: 100,853,409 (GRCm39)	S132*	probably null	Het
Set	A	G	2: 29,959,436 (GRCm39)	I124M	probably damaging	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Sgce	A	G	6: 4,689,709 (GRCm39)	S375P	probably damaging	Het
Slc4a1ap	G	C	5: 31,701,098 (GRCm39)	E600Q	probably damaging	Het
Slit1	A	G	19: 41,626,031 (GRCm39)	V577A	possibly damaging	Het
Sqstm1	A	G	11: 50,098,307 (GRCm39)	V153A	probably benign	Het
Src	A	G	2: 157,311,675 (GRCm39)	M468V	possibly damaging	Het
Srrm3	A	G	5: 135,902,079 (GRCm39)		probably benign	Het
Stk11ip	C	T	1: 75,504,030 (GRCm39)	R257W	probably damaging	Het
Tfrc	T	A	16: 32,433,443 (GRCm39)	D32E	probably damaging	Het
Tor1aip2	A	T	1: 155,941,031 (GRCm39)	I446L	probably benign	Het
Trmt11	T	C	10: 30,411,221 (GRCm39)	H424R	probably benign	Het
Urb1	A	G	16: 90,563,928 (GRCm39)	Y1612H	probably benign	Het
Vcan	A	T	13: 89,836,602 (GRCm39)	S2981T	probably damaging	Het
Vdac1	G	C	11: 52,265,190 (GRCm39)	G21A	probably damaging	Het
Vmn2r76	A	G	7: 85,879,356 (GRCm39)	S315P	probably benign	Het
Xpo1	A	G	11: 23,231,399 (GRCm39)	T328A	probably benign	Het
Xrcc5	C	T	1: 72,358,255 (GRCm39)	L197F	possibly damaging	Het
Zfhx2	G	C	14: 55,311,401 (GRCm39)	S431C	possibly damaging	Het
Zfp410	C	T	12: 84,372,494 (GRCm39)	P54S	probably benign	Het
Zfp560	C	A	9: 20,259,282 (GRCm39)	G527*	probably null	Het
Zfp775	A	G	6: 48,596,389 (GRCm39)	T88A	possibly damaging	Het
Zfp780b	T	A	7: 27,663,808 (GRCm39)	H249L	possibly damaging	Het

Other mutations in Plekhd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02882:Plekhd1	APN	12	80,765,781 (GRCm39)	critical splice donor site	probably null
R0377:Plekhd1	UTSW	12	80,753,210 (GRCm39)	splice site	probably benign
R0462:Plekhd1	UTSW	12	80,768,352 (GRCm39)	missense	probably damaging	1.00
R0626:Plekhd1	UTSW	12	80,764,075 (GRCm39)	missense	probably damaging	1.00
R1125:Plekhd1	UTSW	12	80,753,998 (GRCm39)	missense	possibly damaging	0.83
R1344:Plekhd1	UTSW	12	80,739,659 (GRCm39)	missense	probably benign
R1418:Plekhd1	UTSW	12	80,739,659 (GRCm39)	missense	probably benign
R2070:Plekhd1	UTSW	12	80,739,681 (GRCm39)	nonsense	probably null
R2073:Plekhd1	UTSW	12	80,768,066 (GRCm39)	missense	probably benign	0.19
R2231:Plekhd1	UTSW	12	80,768,725 (GRCm39)	missense	possibly damaging	0.74
R2326:Plekhd1	UTSW	12	80,768,873 (GRCm39)	splice site	probably null
R3615:Plekhd1	UTSW	12	80,764,044 (GRCm39)	missense	probably damaging	1.00
R3616:Plekhd1	UTSW	12	80,764,044 (GRCm39)	missense	probably damaging	1.00
R4899:Plekhd1	UTSW	12	80,769,101 (GRCm39)	missense	probably damaging	1.00
R4955:Plekhd1	UTSW	12	80,768,795 (GRCm39)	missense	possibly damaging	0.54
R5028:Plekhd1	UTSW	12	80,739,723 (GRCm39)	missense	probably damaging	1.00
R5446:Plekhd1	UTSW	12	80,767,410 (GRCm39)	missense	probably benign	0.00
R5615:Plekhd1	UTSW	12	80,767,364 (GRCm39)	missense	probably damaging	1.00
R5648:Plekhd1	UTSW	12	80,767,362 (GRCm39)	missense	probably damaging	1.00
R5766:Plekhd1	UTSW	12	80,769,140 (GRCm39)	missense	probably benign
R6534:Plekhd1	UTSW	12	80,754,031 (GRCm39)	missense	probably damaging	0.99
R7003:Plekhd1	UTSW	12	80,768,734 (GRCm39)	missense	possibly damaging	0.92
R7615:Plekhd1	UTSW	12	80,769,219 (GRCm39)	missense	probably benign	0.02
R7656:Plekhd1	UTSW	12	80,768,934 (GRCm39)	splice site	probably null
R8348:Plekhd1	UTSW	12	80,753,149 (GRCm39)	missense	probably damaging	0.97
R8448:Plekhd1	UTSW	12	80,753,149 (GRCm39)	missense	probably damaging	0.97
R8750:Plekhd1	UTSW	12	80,752,861 (GRCm39)	missense	probably damaging	1.00
R8883:Plekhd1	UTSW	12	80,767,368 (GRCm39)	missense	probably benign	0.13
R9220:Plekhd1	UTSW	12	80,768,726 (GRCm39)	missense	possibly damaging	0.95
R9235:Plekhd1	UTSW	12	80,768,791 (GRCm39)	missense	possibly damaging	0.69
R9553:Plekhd1	UTSW	12	80,753,977 (GRCm39)	missense	probably benign	0.09
R9604:Plekhd1	UTSW	12	80,739,731 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCTGGAATGACAGTGAGCACCC -3'
(R):5'- TGCTGCCCCACCAAGGAAAGATAG -3'

Sequencing Primer
(F):5'- AGTGAGCACCCCCTGTC -3'
(R):5'- CCACCAAGGAAAGATAGGAGGC -3'

Posted On

2014-05-14