Mutagenetix > Incidental Mutation

Incidental Mutation 'R0798:Plekhn1'

76483

Institutional Source

Beutler Lab

Gene Symbol

Plekhn1

Ensembl Gene

ENSMUSG00000078485

Gene Name

pleckstrin homology domain containing, family N member 1

Synonyms

MMRRC Submission

038978-MU

Accession Numbers

Essential gene?

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

Stock #

R0798 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

156305913-156312999 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 156312720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 46 (D46V)

Ref Sequence

ENSEMBL: ENSMUSP00000151311 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105569] [ENSMUST00000105571] [ENSMUST00000217885] [ENSMUST00000218699]

AlphaFold

Q8C886

Predicted Effect

probably benign
Transcript: ENSMUST00000105569

SMART Domains

Protein: ENSMUSP00000101194
Gene: ENSMUSG00000078485

Domain	Start	End	E-Value	Type
low complexity region	20	50	N/A	INTRINSIC
BTB	90	187	3.55e-30	SMART
BACK	192	294	1.08e-42	SMART
Kelch	341	387	4.01e-8	SMART
Kelch	388	434	5.41e-14	SMART
Kelch	435	481	6.97e-17	SMART
Kelch	482	528	1.55e-14	SMART
Kelch	529	575	2.02e-13	SMART
Kelch	576	622	1.34e-9	SMART
low complexity region	626	640	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105571
AA Change: D46V

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101196
Gene: ENSMUSG00000078485
AA Change: D46V

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

noncoding transcript
Transcript: ENSMUST00000184043

Predicted Effect

probably damaging
Transcript: ENSMUST00000217885
AA Change: D46V

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000218699
AA Change: D46V

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219227

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 95.2%

Validation Efficiency

100% (30/30)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
4930579C12Rik	T	A	9: 89,034,880 (GRCm39)		noncoding transcript	Het
Baz2a	T	A	10: 127,962,192 (GRCm39)		probably benign	Het
Bcar3	T	C	3: 122,318,948 (GRCm39)	V695A	probably benign	Het
C130074G19Rik	G	A	1: 184,614,873 (GRCm39)		probably benign	Het
Cmas	T	C	6: 142,710,382 (GRCm39)	V167A	probably damaging	Het
Crppa	G	A	12: 36,571,998 (GRCm39)	R302H	probably benign	Het
Cyp3a25	T	C	5: 145,928,343 (GRCm39)	E234G	probably damaging	Het
Gopc	C	T	10: 52,234,907 (GRCm39)	G79S	probably damaging	Het
Herc2	T	A	7: 55,785,431 (GRCm39)		probably null	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kcnq5	A	G	1: 22,031,399 (GRCm39)		probably null	Het
Lpp	G	T	16: 24,790,622 (GRCm39)	G29*	probably null	Het
Ly6g6e	T	C	17: 35,297,017 (GRCm39)	F86S	probably benign	Het
Myo5c	T	C	9: 75,165,266 (GRCm39)	F358S	probably damaging	Het
Nlgn1	A	G	3: 25,488,410 (GRCm39)	Y613H	probably benign	Het
Or4k38	T	C	2: 111,165,689 (GRCm39)	I245V	probably benign	Het
Or7e178	A	T	9: 20,225,495 (GRCm39)	Y232*	probably null	Het
Ptp4a1	A	T	1: 30,984,005 (GRCm39)		probably benign	Het
Rab23	A	T	1: 33,773,908 (GRCm39)	I123F	probably damaging	Het
Samd4b	G	A	7: 28,101,048 (GRCm39)		probably benign	Het
Shisa4	G	A	1: 135,300,886 (GRCm39)		probably benign	Het
Slc39a11	C	T	11: 113,414,330 (GRCm39)	A90T	probably benign	Het
Tas1r2	T	C	4: 139,397,024 (GRCm39)	Y788H	probably damaging	Het
Tasor	T	A	14: 27,198,593 (GRCm39)	F1308L	probably damaging	Het
Tial1	C	T	7: 128,045,602 (GRCm39)	M327I	probably benign	Het
Ubr2	C	T	17: 47,280,102 (GRCm39)		probably benign	Het
Utp4	T	C	8: 107,648,858 (GRCm39)	S630P	probably benign	Het
Vmn1r212	T	C	13: 23,067,868 (GRCm39)	N155S	probably damaging	Het
Zmym6	C	T	4: 126,997,316 (GRCm39)	P312S	probably benign	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
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
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'- TCACTCTCAGCCTAGACTCTTGAGC -3'
(R):5'- TACGGGCCTCCTTTTCCAGAAAGC -3'

Sequencing Primer
(F):5'- GGAGGAGCCAACTTCCTCATC -3'
(R):5'- TTTCCAGAAAGCCCTCGC -3'

Posted On

2013-10-16