Mutagenetix > Incidental Mutation

Incidental Mutation 'R9235:Plekhd1'

700442

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R9235 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80739375-80770990 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80768791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 425 (Y425N)

Ref Sequence

ENSEMBL: ENSMUSP00000119711 (fasta)

Gene Model

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

AlphaFold

B2RPU2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140770
AA Change: Y425N

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000119711
Gene: ENSMUSG00000066438
AA Change: Y425N

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

Meta Mutation Damage Score

0.1325

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,623,518 (GRCm39)	I76N	possibly damaging	Het
4930558K02Rik	T	C	1: 161,780,172 (GRCm39)	H114R	possibly damaging	Het
C2	T	C	17: 35,083,845 (GRCm39)	D414G	probably damaging	Het
Catsper4	C	T	4: 133,954,606 (GRCm39)	D15N	probably benign	Het
Ccnb2	A	G	9: 70,318,163 (GRCm39)	V203A	probably damaging	Het
Cd2	A	G	3: 101,195,159 (GRCm39)	F13L	probably benign	Het
Cwf19l1	G	A	19: 44,113,275 (GRCm39)	A227V	probably damaging	Het
Dis3l2	G	A	1: 86,749,061 (GRCm39)	D176N	possibly damaging	Het
Dmpk	T	G	7: 18,822,141 (GRCm39)	N366K	probably damaging	Het
Dnajb12	C	T	10: 59,728,799 (GRCm39)	T229I	probably benign	Het
Efcab3	A	G	11: 104,907,987 (GRCm39)	D4479G	probably benign	Het
Fat3	T	A	9: 15,833,674 (GRCm39)	E126V	probably null	Het
Fbxo27	T	A	7: 28,397,756 (GRCm39)	Y264*	probably null	Het
Fign	A	G	2: 63,810,907 (GRCm39)	M121T	probably damaging	Het
Flt3	T	C	5: 147,320,202 (GRCm39)	Y54C	possibly damaging	Het
Frmd4a	G	A	2: 4,599,366 (GRCm39)	R460H	probably damaging	Het
Igkv4-53	A	T	6: 69,626,301 (GRCm39)	I13N	possibly damaging	Het
Islr	T	A	9: 58,064,944 (GRCm39)	I188F	possibly damaging	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Klra3	A	T	6: 130,311,218 (GRCm39)	C54*	probably null	Het
Klrb1b	A	G	6: 128,795,547 (GRCm39)	F140S	probably damaging	Het
Kmt2c	T	C	5: 25,504,997 (GRCm39)	E3437G	probably damaging	Het
Mdn1	C	A	4: 32,739,122 (GRCm39)	L3648I	probably benign	Het
Mlxipl	C	A	5: 135,157,541 (GRCm39)	T359K	possibly damaging	Het
Morc3	T	C	16: 93,659,321 (GRCm39)	W410R	probably damaging	Het
Mrpl49	G	A	19: 6,105,147 (GRCm39)	R105*	probably null	Het
Myom3	T	A	4: 135,541,653 (GRCm39)	Y1415N	probably damaging	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Nrap	A	T	19: 56,330,760 (GRCm39)	Y1100*	probably null	Het
Or14a257	A	T	7: 86,138,306 (GRCm39)	V151E	probably benign	Het
Or5d43	A	T	2: 88,104,724 (GRCm39)	I223N	probably damaging	Het
Or5t5	T	C	2: 86,616,548 (GRCm39)	I158T	probably benign	Het
Or6c8b	G	T	10: 128,882,051 (GRCm39)	Q294K	probably benign	Het
Pank1	C	A	19: 34,856,197 (GRCm39)	A94S	probably benign	Het
Pikfyve	C	A	1: 65,299,188 (GRCm39)	T1613K	probably benign	Het
Plbd2	T	A	5: 120,626,554 (GRCm39)	I352L	probably benign	Het
Plec	T	C	15: 76,059,701 (GRCm39)	D3412G	probably damaging	Het
Plscr5	A	G	9: 92,086,417 (GRCm39)	N129S	possibly damaging	Het
Prkdc	T	A	16: 15,651,751 (GRCm39)	M3796K	probably damaging	Het
Psme3	A	T	11: 101,211,594 (GRCm39)	E213D	possibly damaging	Het
Ptprn2	G	A	12: 117,233,271 (GRCm39)		probably null	Het
Sema5a	A	G	15: 32,619,034 (GRCm39)	S521G	probably benign	Het
Slc34a2	A	T	5: 53,226,667 (GRCm39)	M597L	probably benign	Het
Slc6a13	A	G	6: 121,301,984 (GRCm39)	R189G	probably damaging	Het
Smyd4	G	A	11: 75,295,689 (GRCm39)	E782K	probably benign	Het
Sspo	T	A	6: 48,466,718 (GRCm39)	C4078S	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Trim28	G	A	7: 12,763,490 (GRCm39)	A544T	probably benign	Het
Ttc21a	G	T	9: 119,774,559 (GRCm39)	R271L	probably benign	Het
Ubr5	A	G	15: 38,045,982 (GRCm39)	L114P		Het
Ugt1a2	A	G	1: 88,128,488 (GRCm39)	R44G	possibly damaging	Het
Ulk4	G	A	9: 120,981,217 (GRCm39)	T907I	probably benign	Het
Unc13a	G	T	8: 72,115,912 (GRCm39)	L97I	probably benign	Het
Uqcc6	A	T	10: 82,458,586 (GRCm39)	C22S	possibly damaging	Het
Vmn1r25	A	G	6: 57,955,488 (GRCm39)	L267P	probably damaging	Het
Vmn2r101	T	A	17: 19,810,238 (GRCm39)	N341K	probably damaging	Het
Wdr3	T	A	3: 100,054,023 (GRCm39)	Q534L	probably benign	Het
Zfp28	A	T	7: 6,397,605 (GRCm39)	H680L	probably damaging	Het
Zfp986	T	A	4: 145,625,759 (GRCm39)	F140I	probably benign	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
R1694:Plekhd1	UTSW	12	80,769,095 (GRCm39)	missense	possibly damaging	0.90
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
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'- CCTGTGATAGCTACAGGTTGTG -3'
(R):5'- ATCCCAGTCCTACATGCTGC -3'

Sequencing Primer
(F):5'- CTACAGGTTGTGGTTTGAGGCAC -3'
(R):5'- CTGGTTGAGCCACGTTCAAG -3'

Posted On

2022-02-07