Mutagenetix > Incidental Mutation

Incidental Mutation 'R6741:Plekhn1'

530441

Institutional Source

Beutler Lab

Gene Symbol

Plekhn1

Ensembl Gene

ENSMUSG00000078485

Gene Name

pleckstrin homology domain containing, family N member 1

Synonyms

MMRRC Submission

044858-MU

Accession Numbers

Essential gene?

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

Stock #

R6741 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

156305913-156312999 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 156306249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 607 (I607N)

Ref Sequence

ENSEMBL: ENSMUSP00000151799 (fasta)

Gene Model

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

AlphaFold

Q8C886

Predicted Effect

probably damaging
Transcript: ENSMUST00000105571
AA Change: I608N

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101196
Gene: ENSMUSG00000078485
AA Change: I608N

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 damaging
Transcript: ENSMUST00000217885
AA Change: I607N

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000218699

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219227

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

97% (34/35)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt3	A	C	3: 30,652,663 (GRCm39)	F144V	possibly damaging	Het
Arhgef12	A	G	9: 42,883,503 (GRCm39)	I1342T	probably benign	Het
Dbn1	A	G	13: 55,629,350 (GRCm39)		probably null	Het
Defb12	T	C	8: 19,164,757 (GRCm39)	E27G	probably benign	Het
Dennd2b	A	G	7: 109,144,304 (GRCm39)	Y534H	possibly damaging	Het
Dthd1	A	T	5: 63,000,289 (GRCm39)	H537L	probably damaging	Het
Ep400	A	T	5: 110,824,761 (GRCm39)	S2359T	unknown	Het
Epha5	T	C	5: 84,254,557 (GRCm39)	I572V	possibly damaging	Het
Grb10	C	A	11: 11,886,717 (GRCm39)		probably null	Het
Hectd2	T	C	19: 36,589,759 (GRCm39)	I628T	probably damaging	Het
Il17rb	T	A	14: 29,722,293 (GRCm39)	Q246L	possibly damaging	Het
Knop1	C	T	7: 118,445,061 (GRCm39)	R301Q	possibly damaging	Het
Lrp1b	T	C	2: 41,136,001 (GRCm39)	I1770M	possibly damaging	Het
Mgst1	A	C	6: 138,127,836 (GRCm39)	D66A	probably damaging	Het
Nags	A	G	11: 102,037,718 (GRCm39)	D237G	possibly damaging	Het
Nfatc2ip	T	A	7: 125,995,182 (GRCm39)	Q122L	possibly damaging	Het
Nod2	T	C	8: 89,379,694 (GRCm39)	V72A	probably damaging	Het
Notch3	G	T	17: 32,362,458 (GRCm39)	P1389Q	probably benign	Het
Or5ac25	A	G	16: 59,181,918 (GRCm39)	L221P	probably damaging	Het
Plekho2	C	A	9: 65,471,197 (GRCm39)	R84L	probably damaging	Het
Prag1	A	T	8: 36,614,434 (GRCm39)	M1329L	probably benign	Het
Prpsap2	C	T	11: 61,631,771 (GRCm39)		probably null	Het
Ptprf	A	G	4: 118,080,565 (GRCm39)	S1230P	probably benign	Het
Rigi	A	G	4: 40,211,624 (GRCm39)	I648T	probably damaging	Het
Rptor	T	G	11: 119,786,803 (GRCm39)	L1256R	possibly damaging	Het
Sesn3	T	C	9: 14,231,636 (GRCm39)	I189T	possibly damaging	Het
Skic2	G	A	17: 35,064,166 (GRCm39)	R507*	probably null	Het
Slc39a4	C	T	15: 76,498,283 (GRCm39)	D385N	probably damaging	Het
Tnfsf13b	T	C	8: 10,057,314 (GRCm39)	F128S	possibly damaging	Het
Vmn1r49	A	G	6: 90,049,195 (GRCm39)	V269A	probably benign	Het
Vmn2r69	T	A	7: 85,061,724 (GRCm39)	E83D	probably benign	Het
Vmn2r76	T	C	7: 85,879,560 (GRCm39)	N247D	probably benign	Het
Zmym4	A	G	4: 126,808,878 (GRCm39)	S390P	possibly damaging	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
R7057:Plekhn1	UTSW	4	156,318,374 (GRCm39)	missense	probably damaging	0.99
R7135:Plekhn1	UTSW	4	156,307,792 (GRCm39)	missense	probably benign	0.04
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'- CTGGCTTGTTCCTAGAGTTACC -3'
(R):5'- CCCCAGGTAAGTGGAGATCTTC -3'

Sequencing Primer
(F):5'- AGAGTTACCTCCTTTCAGCTG -3'
(R):5'- TCTCTCCTGAAGGGAAGGG -3'

Posted On

2018-08-01