Mutagenetix > Incidental Mutation

Incidental Mutation 'R4477:Plekhn1'

331308

Institutional Source

Beutler Lab

Gene Symbol

Plekhn1

Ensembl Gene

ENSMUSG00000078485

Gene Name

pleckstrin homology domain containing, family N member 1

Synonyms

MMRRC Submission

041734-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R4477 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

156305913-156312999 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 156307856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 357 (R357W)

Ref Sequence

ENSEMBL: ENSMUSP00000151311 (fasta)

Gene Model

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

AlphaFold

Q8C886

Predicted Effect

probably damaging
Transcript: ENSMUST00000105571
AA Change: R357W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101196
Gene: ENSMUSG00000078485
AA Change: R357W

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: R357W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000218699
AA Change: R357W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219227

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

93% (39/42)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	A	G	9: 44,186,383 (GRCm39)	S549P	probably damaging	Het
Agfg1	T	C	1: 82,853,061 (GRCm39)	S75P	probably damaging	Het
AK157302	T	A	13: 21,679,861 (GRCm39)	V129E	possibly damaging	Het
Angpt1	A	G	15: 42,331,560 (GRCm39)	Y344H	probably damaging	Het
Ap1m2	A	G	9: 21,209,509 (GRCm39)	V389A	probably benign	Het
Bicd2	T	A	13: 49,531,448 (GRCm39)	I230N	probably damaging	Het
C5ar1	T	C	7: 15,982,789 (GRCm39)	N77S	probably damaging	Het
Cacna1c	C	T	6: 118,607,200 (GRCm39)	V1235M	possibly damaging	Het
Cdh15	A	G	8: 123,591,415 (GRCm39)	H517R	probably benign	Het
D130040H23Rik	C	A	8: 69,755,155 (GRCm39)	H187N	possibly damaging	Het
Dbn1	CCCGCTCCCGGTAGCGCCGCTC	CCCGCTC	13: 55,629,374 (GRCm39)		probably benign	Het
Eif4g1	G	T	16: 20,497,593 (GRCm39)		probably benign	Het
Fmn1	T	A	2: 113,274,744 (GRCm39)		probably benign	Het
Gm3159	T	C	14: 4,398,584 (GRCm38)	Y92H	probably damaging	Het
Gm7138	A	T	10: 77,612,246 (GRCm39)		probably benign	Het
Ift172	C	T	5: 31,422,781 (GRCm39)	A890T	probably benign	Het
Inpp5j	T	C	11: 3,451,625 (GRCm39)	T426A	probably damaging	Het
Katna1	T	C	10: 7,614,594 (GRCm39)	V32A	probably damaging	Het
Lrrc71	G	C	3: 87,649,972 (GRCm39)	R319G	probably damaging	Het
Lyst	G	A	13: 13,809,968 (GRCm39)	R546H	probably damaging	Het
Mmp19	A	T	10: 128,631,506 (GRCm39)	T129S	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Neo1	T	C	9: 58,784,582 (GRCm39)	D1458G	probably damaging	Het
Nup35	T	C	2: 80,487,487 (GRCm39)		probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Pdlim5	C	T	3: 141,964,978 (GRCm39)	S417N	probably benign	Het
Pla2g4f	A	G	2: 120,134,153 (GRCm39)	S478P	probably damaging	Het
Pom121	T	C	5: 135,410,842 (GRCm39)	T772A	unknown	Het
Pramel20	A	G	4: 143,297,732 (GRCm39)	I51V	probably benign	Het
Rasgef1a	A	T	6: 118,062,436 (GRCm39)	H232L	possibly damaging	Het
Sdad1	A	G	5: 92,445,019 (GRCm39)	M315T	probably damaging	Het
Syt9	A	G	7: 107,024,428 (GRCm39)	N107S	probably damaging	Het
Traf3	T	C	12: 111,215,036 (GRCm39)	S202P	probably benign	Het
Vmn2r9	T	C	5: 108,994,143 (GRCm39)	E502G	probably benign	Het
Vps8	A	T	16: 21,363,986 (GRCm39)		probably benign	Het
Zfp770	G	A	2: 114,027,365 (GRCm39)	L235F	probably 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
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
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'- CAGCAATCACCAGTATGGGAC -3'
(R):5'- TTCCCAGGATTACAGAAGCCC -3'

Sequencing Primer
(F):5'- TCACCAGTATGGGACAATGGTACC -3'
(R):5'- GATTACAGAAGCCCACACAGGTG -3'

Posted On

2015-07-21