Mutagenetix > Incidental Mutation

Incidental Mutation 'R1344:Plekhd1'

200758

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

039409-MU

Accession Numbers

Essential gene?

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

Stock #

R1344 (G1)

Quality Score

156

Status

Not validated

Chromosome

Chromosomal Location

80739375-80770990 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80739659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 3 (T3A)

Ref Sequence

ENSEMBL: ENSMUSP00000119711 (fasta)

Gene Model

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

AlphaFold

B2RPU2

Predicted Effect

probably benign
Transcript: ENSMUST00000140770
AA Change: T3A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119711
Gene: ENSMUSG00000066438
AA Change: T3A

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

noncoding transcript
Transcript: ENSMUST00000153297

Meta Mutation Damage Score

0.0675

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	T	G	6: 52,156,131 (GRCm39)		probably benign	Het
Aco1	T	C	4: 40,179,008 (GRCm39)	Y336H	probably damaging	Het
Adamts12	T	A	15: 11,286,890 (GRCm39)	W832R	probably damaging	Het
Asxl2	A	G	12: 3,543,790 (GRCm39)	K320E	probably damaging	Het
Atrnl1	G	A	19: 57,924,137 (GRCm39)		probably null	Het
B4galnt2	A	C	11: 95,760,181 (GRCm39)	I282S	probably benign	Het
Bcl2l13	T	C	6: 120,853,288 (GRCm39)	I191T	probably benign	Het
Bltp3a	A	G	17: 28,113,551 (GRCm39)	K1241R	probably benign	Het
Cd101	A	T	3: 100,926,091 (GRCm39)	Y209*	probably null	Het
Cd109	A	T	9: 78,579,832 (GRCm39)		probably null	Het
Cdc34	G	A	10: 79,521,134 (GRCm39)	A128T	probably damaging	Het
Cdk12	T	A	11: 98,132,611 (GRCm39)	S1013R	unknown	Het
Cntd1	T	A	11: 101,176,566 (GRCm39)	L221Q	possibly damaging	Het
Cntn4	G	A	6: 106,321,831 (GRCm39)		probably null	Het
Col12a1	T	A	9: 79,606,837 (GRCm39)	K529*	probably null	Het
Col17a1	T	A	19: 47,659,944 (GRCm39)	D336V	probably damaging	Het
Creb3l4	A	G	3: 90,146,045 (GRCm39)	I193T	possibly damaging	Het
Cyp2d10	A	T	15: 82,290,106 (GRCm39)		probably null	Het
Dcun1d3	A	G	7: 119,457,158 (GRCm39)	F185L	probably damaging	Het
Dlec1	G	A	9: 118,959,085 (GRCm39)	E910K	probably benign	Het
Dnajc19	T	A	3: 34,112,161 (GRCm39)	N128I	probably damaging	Het
Dusp1	A	G	17: 26,727,293 (GRCm39)	V2A	probably benign	Het
Eea1	G	A	10: 95,830,861 (GRCm39)		probably null	Het
Elf1	T	C	14: 79,798,215 (GRCm39)	V34A	probably damaging	Het
Extl1	T	C	4: 134,086,552 (GRCm39)	D501G	probably damaging	Het
Fcgr2b	T	C	1: 170,788,650 (GRCm39)	Y319C	probably damaging	Het
Fhip2a	G	A	19: 57,359,594 (GRCm39)	A45T	possibly damaging	Het
Fxr2	A	G	11: 69,539,710 (GRCm39)	H247R	possibly damaging	Het
Gask1a	A	T	9: 121,807,452 (GRCm39)	H532L	probably damaging	Het
Gfra1	A	C	19: 58,226,849 (GRCm39)	S461A	possibly damaging	Het
Gli2	T	G	1: 118,769,666 (GRCm39)	I629L	probably damaging	Het
Gpx3	G	A	11: 54,800,422 (GRCm39)	V207I	probably damaging	Het
Helz2	T	C	2: 180,879,389 (GRCm39)	D743G	possibly damaging	Het
Hormad2	A	G	11: 4,359,005 (GRCm39)		probably null	Het
Ifitm1	C	T	7: 140,548,263 (GRCm39)	T32M	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Lrit2	A	G	14: 36,790,513 (GRCm39)	N64S	probably benign	Het
Lsm14a	A	T	7: 34,052,982 (GRCm39)	D322E	probably damaging	Het
Macf1	T	G	4: 123,327,246 (GRCm39)	R4752S	probably damaging	Het
Mark3	T	C	12: 111,594,271 (GRCm39)	I307T	possibly damaging	Het
Mpdz	T	A	4: 81,226,556 (GRCm39)	T1360S	probably benign	Het
Mtif2	G	A	11: 29,495,002 (GRCm39)	V701I	probably benign	Het
Myh3	A	G	11: 66,983,158 (GRCm39)	E895G	probably benign	Het
Ncan	A	C	8: 70,560,819 (GRCm39)	I716R	probably benign	Het
Ncor2	C	T	5: 125,102,510 (GRCm39)	R1867K	probably damaging	Het
Oas1d	C	T	5: 121,052,959 (GRCm39)	L5F	probably damaging	Het
Or10s1	T	A	9: 39,985,768 (GRCm39)	L59H	probably damaging	Het
Or11h4b	T	A	14: 50,918,315 (GRCm39)	M259L	probably benign	Het
Or13a17	T	C	7: 140,271,712 (GRCm39)	V298A	probably damaging	Het
Or3a4	A	T	11: 73,945,038 (GRCm39)	C182*	probably null	Het
Otog	G	T	7: 45,924,039 (GRCm39)	A1133S	probably damaging	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Pcdhb2	G	A	18: 37,428,710 (GRCm39)	V228I	possibly damaging	Het
Pdcd11	A	G	19: 47,118,516 (GRCm39)	D1794G	probably damaging	Het
Pde1c	T	C	6: 56,338,752 (GRCm39)	I27V	probably benign	Het
Pde4d	C	A	13: 110,086,921 (GRCm39)	S609*	probably null	Het
Piezo2	T	A	18: 63,154,325 (GRCm39)	I2485F	probably damaging	Het
Plscr1	C	T	9: 92,141,357 (GRCm39)	T15I	unknown	Het
Rd3	T	C	1: 191,717,262 (GRCm39)	*106R	probably null	Het
Rnf125	A	G	18: 21,114,288 (GRCm39)	I97V	possibly damaging	Het
Sec24b	T	C	3: 129,801,072 (GRCm39)	N408S	probably damaging	Het
Sf3b3	G	C	8: 111,564,935 (GRCm39)	A291G	probably damaging	Het
Simc1	T	C	13: 54,698,292 (GRCm39)	V403A	probably damaging	Het
Slc38a9	T	C	13: 112,826,714 (GRCm39)	C151R	probably benign	Het
Slco1a8	A	G	6: 141,931,344 (GRCm39)	S474P	probably damaging	Het
Slitrk5	A	G	14: 111,917,821 (GRCm39)	S482G	probably benign	Het
Smyd1	G	A	6: 71,239,151 (GRCm39)	T13I	probably benign	Het
Speer4a3	T	A	5: 26,158,107 (GRCm39)	T82S	probably benign	Het
Stoml2	T	A	4: 43,028,197 (GRCm39)	I344F	probably benign	Het
Tet1	C	T	10: 62,650,300 (GRCm39)	R1636H	probably damaging	Het
Thap12	A	G	7: 98,366,037 (GRCm39)	D735G	probably damaging	Het
Tnip3	T	C	6: 65,574,413 (GRCm39)	V88A	probably benign	Het
Ttn	A	G	2: 76,565,755 (GRCm39)	V28199A	possibly damaging	Het
Ube3b	T	C	5: 114,556,636 (GRCm39)	F989S	probably damaging	Het
Ubox5	A	G	2: 130,442,210 (GRCm39)	L159P	probably damaging	Het
Uevld	A	T	7: 46,587,758 (GRCm39)	V314E	possibly damaging	Het
Urb1	T	C	16: 90,566,354 (GRCm39)	M1478V	probably damaging	Het
Ust	C	A	10: 8,173,954 (GRCm39)	V184F	possibly damaging	Het
Wdr95	G	A	5: 149,511,563 (GRCm39)	C421Y	probably 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
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
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'- TCCAGGCTACCAGAATTGAGGCTG -3'
(R):5'- GCGACCAATTAAAGTCGCATCTTCC -3'

Sequencing Primer
(F):5'- AGCCGCTGGCTAAGCTTC -3'
(R):5'- AAAGTCGCATCTTCCAGGTGG -3'

Posted On

2014-05-23