Mutagenetix > Incidental Mutation

Incidental Mutation 'R7135:Plekhn1'

552984

Institutional Source

Beutler Lab

Gene Symbol

Plekhn1

Ensembl Gene

ENSMUSG00000078485

Gene Name

pleckstrin homology domain containing, family N member 1

Synonyms

MMRRC Submission

045247-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R7135 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

156305913-156312999 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 156307792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 378 (V378A)

Ref Sequence

ENSEMBL: ENSMUSP00000151311 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105571] [ENSMUST00000105572] [ENSMUST00000217885] [ENSMUST00000218699]

AlphaFold

Q8C886

Predicted Effect

probably benign
Transcript: ENSMUST00000105571
AA Change: V378A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000101196
Gene: ENSMUSG00000078485
AA Change: V378A

Domain	Start	End	E-Value	Type
PH	96	192	4.6e-4	SMART
PH	227	324	8.34e-2	SMART
low complexity region	346	359	N/A	INTRINSIC
low complexity region	403	414	N/A	INTRINSIC
low complexity region	499	527	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105572

SMART Domains

Protein: ENSMUSP00000101197
Gene: ENSMUSG00000078486

Domain	Start	End	E-Value	Type
low complexity region	40	58	N/A	INTRINSIC
low complexity region	145	160	N/A	INTRINSIC
low complexity region	441	452	N/A	INTRINSIC
low complexity region	544	553	N/A	INTRINSIC
low complexity region	606	616	N/A	INTRINSIC
low complexity region	790	806	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000217885
AA Change: V378A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000218699
AA Change: V378A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (83/83)

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,819,887 (GRCm39)	Y221*	probably null	Het
AC166344.1	T	A	14: 43,158,245 (GRCm39)	F97I		Het
Ankmy2	T	C	12: 36,246,311 (GRCm39)	S412P	probably benign	Het
Ap1s3	T	C	1: 79,586,919 (GRCm39)	T144A	probably benign	Het
Armh2	T	C	13: 24,925,489 (GRCm39)	S78P	probably benign	Het
Asb3	T	A	11: 30,948,501 (GRCm39)	L59*	probably null	Het
Asxl3	G	T	18: 22,650,758 (GRCm39)	G916*	probably null	Het
Asxl3	G	C	18: 22,650,759 (GRCm39)	G916A	probably damaging	Het
Birc2	A	C	9: 7,818,762 (GRCm39)	F610V	probably damaging	Het
Camk4	G	A	18: 33,240,996 (GRCm39)		probably null	Het
Ccdc162	A	G	10: 41,549,855 (GRCm39)	S343P	probably benign	Het
Ccnk	T	A	12: 108,152,734 (GRCm39)	L17Q	probably damaging	Het
Cd59b	G	A	2: 103,914,792 (GRCm39)	W63*	probably null	Het
Chrm3	C	T	13: 9,927,837 (GRCm39)	V400I	probably benign	Het
Crb1	C	A	1: 139,171,105 (GRCm39)	V762F	probably damaging	Het
Cspp1	C	T	1: 10,159,161 (GRCm39)	T529I	possibly damaging	Het
Cttnbp2	A	G	6: 18,448,446 (GRCm39)	I71T	possibly damaging	Het
Cyb561	C	A	11: 105,826,393 (GRCm39)	G90V	probably damaging	Het
Cyld	T	A	8: 89,471,520 (GRCm39)	D804E	possibly damaging	Het
Ddx31	G	A	2: 28,738,318 (GRCm39)	V160I	probably benign	Het
Dgkg	T	C	16: 22,319,132 (GRCm39)	D643G	probably damaging	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dnah12	T	G	14: 26,523,370 (GRCm39)	I1953S	probably damaging	Het
Dnah7b	T	C	1: 46,178,870 (GRCm39)	W848R	probably damaging	Het
Dnah7c	C	T	1: 46,572,368 (GRCm39)	T947M	probably damaging	Het
Dnmt3c	C	A	2: 153,556,872 (GRCm39)		probably null	Het
Dsp	A	T	13: 38,363,049 (GRCm39)	Y443F	probably damaging	Het
Espl1	T	A	15: 102,227,959 (GRCm39)	C1603*	probably null	Het
Faiml	G	T	9: 99,116,496 (GRCm39)	R65S	probably benign	Het
Gfpt2	T	C	11: 49,695,782 (GRCm39)	I4T	probably damaging	Het
Gm10376	T	A	14: 42,867,950 (GRCm39)	M179L	probably benign	Het
Gm4302	T	A	10: 100,177,589 (GRCm39)	M291K	unknown	Het
Gnb1l	T	A	16: 18,363,918 (GRCm39)	D154E	probably benign	Het
Igkv10-94	T	C	6: 68,681,727 (GRCm39)	R38G	possibly damaging	Het
Inmt	A	T	6: 55,148,013 (GRCm39)	Y205*	probably null	Het
Krba1	A	G	6: 48,393,233 (GRCm39)	Q1049R	probably benign	Het
Lpxn	T	A	19: 12,810,683 (GRCm39)	C376S	probably damaging	Het
Lrrc52	T	A	1: 167,294,019 (GRCm39)	I89F	probably damaging	Het
Map9	A	T	3: 82,270,765 (GRCm39)	T110S	probably benign	Het
Mccc1	T	C	3: 36,049,967 (GRCm39)	Y75C	probably damaging	Het
Mff	T	A	1: 82,724,812 (GRCm39)	L203*	probably null	Het
Micall1	C	A	15: 78,993,624 (GRCm39)	D47E	unknown	Het
Mink1	T	C	11: 70,494,329 (GRCm39)	F243S	probably damaging	Het
Mlycd	C	T	8: 120,129,216 (GRCm39)	R228W	probably damaging	Het
Msr1	A	T	8: 40,042,465 (GRCm39)	V370E	possibly damaging	Het
Naip6	T	C	13: 100,436,927 (GRCm39)	E532G	probably damaging	Het
Nepn	G	A	10: 52,267,815 (GRCm39)	C27Y	probably damaging	Het
Ninl	T	C	2: 150,797,524 (GRCm39)	H592R	probably benign	Het
Nr4a2	A	G	2: 57,002,261 (GRCm39)	M64T	possibly damaging	Het
Oprm1	A	T	10: 6,780,203 (GRCm39)	I171F	possibly damaging	Het
Or4g16	T	A	2: 111,137,365 (GRCm39)	F272I	probably benign	Het
Or5p60	T	C	7: 107,723,781 (GRCm39)	K230E	probably damaging	Het
Pcbp1	A	T	6: 86,502,488 (GRCm39)	M137K	possibly damaging	Het
Pcf11	A	T	7: 92,306,524 (GRCm39)	S1215T	probably benign	Het
Pdlim5	A	T	3: 142,017,683 (GRCm39)		probably null	Het
Pecam1	T	C	11: 106,579,857 (GRCm39)	I402V	probably damaging	Het
Pex12	T	C	11: 83,188,468 (GRCm39)	T176A	probably benign	Het
Phf3	T	C	1: 30,870,190 (GRCm39)	K286R	possibly damaging	Het
Pik3ap1	T	A	19: 41,320,760 (GRCm39)	D153V	probably damaging	Het
Pkhd1l1	T	A	15: 44,448,374 (GRCm39)		probably null	Het
Pramel26	A	T	4: 143,537,233 (GRCm39)	L366Q	probably damaging	Het
Ptprm	A	T	17: 67,251,283 (GRCm39)	D531E	possibly damaging	Het
Pum2	A	T	12: 8,778,952 (GRCm39)	Q508L	possibly damaging	Het
Rad54l	A	G	4: 115,963,027 (GRCm39)	S324P	probably damaging	Het
Recql5	C	T	11: 115,821,498 (GRCm39)		probably null	Het
Reln	A	T	5: 22,181,594 (GRCm39)	V1763D	possibly damaging	Het
Rp1	T	C	1: 4,418,391 (GRCm39)	N907S	possibly damaging	Het
Scaf11	T	A	15: 96,318,209 (GRCm39)	N452Y	possibly damaging	Het
Scgb2b3	T	A	7: 31,059,639 (GRCm39)	H45L	possibly damaging	Het
Sim1	A	G	10: 50,772,023 (GRCm39)	T11A	probably damaging	Het
Slc5a12	T	A	2: 110,447,059 (GRCm39)	M189K	possibly damaging	Het
Slco2b1	C	T	7: 99,344,270 (GRCm39)	G10S	probably null	Het
Speer1j	C	T	5: 11,555,198 (GRCm39)	P83S	probably damaging	Het
Stxbp3	A	G	3: 108,708,071 (GRCm39)	L410P	probably damaging	Het
Sugct	T	C	13: 17,476,594 (GRCm39)	N297D	probably benign	Het
Syne1	A	G	10: 5,183,409 (GRCm39)	I4132T	probably benign	Het
Teddm1b	A	T	1: 153,750,912 (GRCm39)	L240F	probably damaging	Het
Tlr5	C	A	1: 182,803,088 (GRCm39)	D797E	possibly damaging	Het
Tmprss13	G	T	9: 45,249,643 (GRCm39)	G327C	probably damaging	Het
Tnrc18	G	T	5: 142,773,572 (GRCm39)	A419D		Het
Ttc28	T	C	5: 111,427,873 (GRCm39)	Y1790H	probably damaging	Het
Vmn1r125	T	G	7: 21,006,327 (GRCm39)	M75R	probably damaging	Het
Vwa3a	T	A	7: 120,372,253 (GRCm39)	D276E	possibly damaging	Het
Wdfy3	C	T	5: 102,063,303 (GRCm39)	V1322M	probably damaging	Het
Wdr11	T	C	7: 129,229,830 (GRCm39)	S872P	possibly damaging	Het
Zc3h13	T	C	14: 75,559,161 (GRCm39)	S357P	unknown	Het

Other mutations in Plekhn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Plekhn1	APN	4	156,307,820 (GRCm39)	missense	probably damaging	1.00
IGL00473:Plekhn1	APN	4	156,307,820 (GRCm39)	missense	probably damaging	1.00
IGL02104:Plekhn1	APN	4	156,306,865 (GRCm39)	missense	probably benign	0.25
IGL02122:Plekhn1	APN	4	156,308,313 (GRCm39)	critical splice donor site	probably null
IGL02210:Plekhn1	APN	4	156,308,106 (GRCm39)	missense	probably damaging	1.00
PIT4142001:Plekhn1	UTSW	4	156,309,397 (GRCm39)	nonsense	probably null
PIT4366001:Plekhn1	UTSW	4	156,309,268 (GRCm39)	missense	probably damaging	0.99
R0123:Plekhn1	UTSW	4	156,312,700 (GRCm39)	missense	probably benign	0.13
R0134:Plekhn1	UTSW	4	156,312,700 (GRCm39)	missense	probably benign	0.13
R0225:Plekhn1	UTSW	4	156,312,700 (GRCm39)	missense	probably benign	0.13
R0276:Plekhn1	UTSW	4	156,312,703 (GRCm39)	missense	probably damaging	0.99
R0282:Plekhn1	UTSW	4	156,312,780 (GRCm39)	splice site	probably benign
R0540:Plekhn1	UTSW	4	156,307,204 (GRCm39)	missense	possibly damaging	0.87
R0569:Plekhn1	UTSW	4	156,309,658 (GRCm39)	missense	probably damaging	1.00
R0656:Plekhn1	UTSW	4	156,309,821 (GRCm39)	missense	possibly damaging	0.55
R0798:Plekhn1	UTSW	4	156,312,720 (GRCm39)	missense	probably damaging	0.96
R0848:Plekhn1	UTSW	4	156,308,021 (GRCm39)	critical splice donor site	probably null
R1803:Plekhn1	UTSW	4	156,306,838 (GRCm39)	missense	probably benign	0.20
R2168:Plekhn1	UTSW	4	156,306,339 (GRCm39)	missense	probably damaging	0.99
R2356:Plekhn1	UTSW	4	156,307,158 (GRCm39)	missense	probably damaging	1.00
R2516:Plekhn1	UTSW	4	156,307,116 (GRCm39)	missense	probably damaging	1.00
R3746:Plekhn1	UTSW	4	156,310,051 (GRCm39)	missense	probably benign	0.00
R3818:Plekhn1	UTSW	4	156,309,990 (GRCm39)	missense	probably damaging	1.00
R3902:Plekhn1	UTSW	4	156,310,126 (GRCm39)	missense	possibly damaging	0.75
R4024:Plekhn1	UTSW	4	156,309,207 (GRCm39)	missense	probably damaging	1.00
R4057:Plekhn1	UTSW	4	156,309,150 (GRCm39)	splice site	probably null
R4176:Plekhn1	UTSW	4	156,306,258 (GRCm39)	missense	probably benign	0.02
R4402:Plekhn1	UTSW	4	156,309,813 (GRCm39)	missense	probably damaging	1.00
R4405:Plekhn1	UTSW	4	156,309,730 (GRCm39)	splice site	probably null
R4477:Plekhn1	UTSW	4	156,307,856 (GRCm39)	missense	probably damaging	1.00
R4515:Plekhn1	UTSW	4	156,309,988 (GRCm39)	missense	probably damaging	1.00
R4517:Plekhn1	UTSW	4	156,309,988 (GRCm39)	missense	probably damaging	1.00
R4518:Plekhn1	UTSW	4	156,309,988 (GRCm39)	missense	probably damaging	1.00
R5086:Plekhn1	UTSW	4	156,306,881 (GRCm39)	missense	probably benign	0.00
R5092:Plekhn1	UTSW	4	156,309,222 (GRCm39)	missense	possibly damaging	0.93
R5201:Plekhn1	UTSW	4	156,314,984 (GRCm39)	missense	probably benign	0.00
R5896:Plekhn1	UTSW	4	156,308,331 (GRCm39)	missense	probably benign	0.02
R5913:Plekhn1	UTSW	4	156,307,152 (GRCm39)	missense	probably damaging	1.00
R6124:Plekhn1	UTSW	4	156,309,696 (GRCm39)	missense	possibly damaging	0.87
R6244:Plekhn1	UTSW	4	156,315,015 (GRCm39)	splice site	probably null
R6263:Plekhn1	UTSW	4	156,309,650 (GRCm39)	critical splice donor site	probably null
R6430:Plekhn1	UTSW	4	156,306,261 (GRCm39)	missense	probably benign	0.00
R6703:Plekhn1	UTSW	4	156,309,250 (GRCm39)	missense	probably benign	0.00
R6723:Plekhn1	UTSW	4	156,309,026 (GRCm39)	missense	probably damaging	1.00
R6741:Plekhn1	UTSW	4	156,306,249 (GRCm39)	missense	probably damaging	0.98
R7057:Plekhn1	UTSW	4	156,318,374 (GRCm39)	missense	probably damaging	0.99
R7347:Plekhn1	UTSW	4	156,307,128 (GRCm39)	missense	probably benign	0.00
R7408:Plekhn1	UTSW	4	156,318,418 (GRCm39)	missense	probably benign	0.14
R7423:Plekhn1	UTSW	4	156,315,142 (GRCm39)	missense	probably benign	0.15
R7500:Plekhn1	UTSW	4	156,317,771 (GRCm39)	missense	probably benign	0.19
R7613:Plekhn1	UTSW	4	156,309,277 (GRCm39)	missense	probably benign	0.00
R7626:Plekhn1	UTSW	4	156,310,110 (GRCm39)	missense	probably benign	0.00
R7738:Plekhn1	UTSW	4	156,316,691 (GRCm39)	missense	probably damaging	1.00
R8065:Plekhn1	UTSW	4	156,312,697 (GRCm39)	missense	possibly damaging	0.75
R8067:Plekhn1	UTSW	4	156,312,697 (GRCm39)	missense	possibly damaging	0.75
R8744:Plekhn1	UTSW	4	156,318,364 (GRCm39)	missense	probably damaging	1.00
R8746:Plekhn1	UTSW	4	156,316,682 (GRCm39)	missense	probably damaging	1.00
R8839:Plekhn1	UTSW	4	156,307,046 (GRCm39)	intron	probably benign
R8841:Plekhn1	UTSW	4	156,316,655 (GRCm39)	missense	probably damaging	0.98
R8900:Plekhn1	UTSW	4	156,310,078 (GRCm39)	missense	possibly damaging	0.87
R9208:Plekhn1	UTSW	4	156,306,859 (GRCm39)	missense	possibly damaging	0.86
R9723:Plekhn1	UTSW	4	156,306,875 (GRCm39)	missense	probably benign	0.00
X0023:Plekhn1	UTSW	4	156,306,811 (GRCm39)	missense	possibly damaging	0.76
X0065:Plekhn1	UTSW	4	156,309,372 (GRCm39)	critical splice donor site	probably null
Z1176:Plekhn1	UTSW	4	156,307,888 (GRCm39)	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- TCTTCTAGGAGGCCGAATGG -3'
(R):5'- GTGTGGCAGTGATGCAAACTAG -3'

Sequencing Primer
(F):5'- CGAATGGGGGTCTCTTCCG -3'
(R):5'- CTAGGAGCAGGAAGTTAGGTCC -3'

Posted On

2019-05-15