Mutagenetix > Incidental Mutation

Incidental Mutation 'R0225:Plekhn1'

33841

Institutional Source

Beutler Lab

Gene Symbol

Plekhn1

Ensembl Gene

ENSMUSG00000078485

Gene Name

pleckstrin homology domain containing, family N member 1

Synonyms

MMRRC Submission

038470-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R0225 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

156221456-156234857 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 156228243 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 53 (R53G)

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 benign
Transcript: ENSMUST00000105571
AA Change: R53G

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101196
Gene: ENSMUSG00000078485
AA Change: R53G

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 benign
Transcript: ENSMUST00000217885
AA Change: R53G

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000218699
AA Change: R53G

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219227

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	G	A	18: 38,261,264	V505I	probably benign	Het
4931417E11Rik	A	G	6: 73,469,419	L49P	possibly damaging	Het
Abca16	T	A	7: 120,540,155	L1470Q	probably damaging	Het
Abraxas2	G	A	7: 132,874,855	R105Q	probably damaging	Het
Arhgap23	G	T	11: 97,444,328	V70L	probably benign	Het
AW549877	T	C	15: 3,986,294	K263E	probably damaging	Het
Bicd1	T	C	6: 149,512,950	I387T	probably benign	Het
Cd59b	G	A	2: 104,078,941		probably null	Het
Chn2	T	C	6: 54,290,451		probably benign	Het
Col18a1	T	C	10: 77,088,914	S14G	possibly damaging	Het
Col5a2	A	G	1: 45,407,035	I461T	probably benign	Het
Dnlz	T	C	2: 26,351,368	N116S	probably damaging	Het
Esyt2	A	G	12: 116,367,710	N736S	probably damaging	Het
F11	T	C	8: 45,249,077	T267A	probably benign	Het
Fam234b	T	G	6: 135,217,074	S242A	possibly damaging	Het
Gadd45b	A	G	10: 80,930,347	N11S	probably benign	Het
Garnl3	T	C	2: 33,006,804	T608A	possibly damaging	Het
Gata3	T	C	2: 9,874,809	T119A	probably benign	Het
Gm10647	A	G	9: 66,798,495		probably benign	Het
Gm10936	G	A	10: 117,248,130		noncoding transcript	Het
Gzmd	A	G	14: 56,129,704	W244R	probably damaging	Het
Hdac2	T	A	10: 36,989,184	D131E	probably benign	Het
Hira	T	A	16: 18,956,171	F949I	probably benign	Het
Ighv15-2	T	G	12: 114,565,037		probably benign	Het
Il3	A	G	11: 54,265,680		probably null	Het
Itgae	A	C	11: 73,111,342	M91L	probably benign	Het
Kat2b	A	G	17: 53,641,210	E336G	probably damaging	Het
Kctd21	T	A	7: 97,348,091	I257N	probably benign	Het
Kif23	C	G	9: 61,925,694		probably benign	Het
Lgi3	A	T	14: 70,532,821	I109L	probably benign	Het
Lhx9	A	T	1: 138,838,679	C124S	probably damaging	Het
Lipo4	A	G	19: 33,501,606	V278A	probably benign	Het
Lrch3	T	A	16: 32,961,754		probably benign	Het
Lrp1b	T	C	2: 40,596,983	E142G	probably damaging	Het
Map9	G	A	3: 82,359,983		probably benign	Het
Miox	C	T	15: 89,334,454		probably benign	Het
Mndal	A	T	1: 173,857,513		probably benign	Het
Mug2	G	T	6: 122,074,714	V952L	possibly damaging	Het
Nepn	A	T	10: 52,400,437	T29S	probably damaging	Het
Olfr1055	T	C	2: 86,347,728	I13V	possibly damaging	Het
Olfr307	A	G	7: 86,335,595	I267T	probably benign	Het
Olfr729	T	G	14: 50,148,635	K80Q	probably damaging	Het
Olfr933	A	G	9: 38,976,278	I201V	probably benign	Het
Phf3	A	T	1: 30,805,065	D1604E	probably benign	Het
Prickle1	A	G	15: 93,510,777	L47P	possibly damaging	Het
Ptar1	T	A	19: 23,718,095	C309S	probably benign	Het
Rapgef2	A	T	3: 79,104,105	S224R	probably damaging	Het
Siglecg	G	A	7: 43,411,171	G325D	probably damaging	Het
Skor2	A	T	18: 76,859,098	I172F	unknown	Het
Slc9a1	A	G	4: 133,420,605	K645E	probably benign	Het
St14	T	A	9: 31,108,284		probably null	Het
Tas2r120	T	A	6: 132,657,589	Y211*	probably null	Het
Tbxa2r	C	A	10: 81,332,900	T141K	possibly damaging	Het
Tpd52l1	A	G	10: 31,379,256	S32P	probably damaging	Het
Ttn	T	A	2: 76,710,124	R34173W	probably damaging	Het
Ttn	C	A	2: 76,793,130	V15368L	possibly damaging	Het
Tyms	A	G	5: 30,063,258	I148T	probably damaging	Het
Vmn1r45	A	T	6: 89,933,510	Y159*	probably null	Het
Vmn1r58	A	C	7: 5,410,866	S122A	probably benign	Het
Vmn2r13	C	A	5: 109,175,049	V125L	probably benign	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Vps13b	T	C	15: 35,887,261	I3272T	probably benign	Het
Wfdc8	A	G	2: 164,597,185	Y426H	probably benign	Het
Zfp948	A	T	17: 21,587,294	K249N	probably damaging	Het
Zfyve1	A	G	12: 83,555,073		probably benign	Het
Zyg11a	G	A	4: 108,204,641	T321I	probably damaging	Het

Other mutations in Plekhn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Plekhn1	APN	4	156223363	missense	probably damaging	1.00
IGL00473:Plekhn1	APN	4	156223363	missense	probably damaging	1.00
IGL02104:Plekhn1	APN	4	156222408	missense	probably benign	0.25
IGL02122:Plekhn1	APN	4	156223856	critical splice donor site	probably null
IGL02210:Plekhn1	APN	4	156223649	missense	probably damaging	1.00
PIT4142001:Plekhn1	UTSW	4	156224940	nonsense	probably null
PIT4366001:Plekhn1	UTSW	4	156224811	missense	probably damaging	0.99
R0123:Plekhn1	UTSW	4	156228243	missense	probably benign	0.13
R0134:Plekhn1	UTSW	4	156228243	missense	probably benign	0.13
R0276:Plekhn1	UTSW	4	156228246	missense	probably damaging	0.99
R0282:Plekhn1	UTSW	4	156228323	splice site	probably benign
R0540:Plekhn1	UTSW	4	156222747	missense	possibly damaging	0.87
R0569:Plekhn1	UTSW	4	156225201	missense	probably damaging	1.00
R0656:Plekhn1	UTSW	4	156225364	missense	possibly damaging	0.55
R0798:Plekhn1	UTSW	4	156228263	missense	probably damaging	0.96
R0848:Plekhn1	UTSW	4	156223564	critical splice donor site	probably null
R1803:Plekhn1	UTSW	4	156222381	missense	probably benign	0.20
R2168:Plekhn1	UTSW	4	156221882	missense	probably damaging	0.99
R2356:Plekhn1	UTSW	4	156222701	missense	probably damaging	1.00
R2516:Plekhn1	UTSW	4	156222659	missense	probably damaging	1.00
R3746:Plekhn1	UTSW	4	156225594	missense	probably benign	0.00
R3818:Plekhn1	UTSW	4	156225533	missense	probably damaging	1.00
R3902:Plekhn1	UTSW	4	156225669	missense	possibly damaging	0.75
R4024:Plekhn1	UTSW	4	156224750	missense	probably damaging	1.00
R4057:Plekhn1	UTSW	4	156224693	splice site	probably null
R4176:Plekhn1	UTSW	4	156221801	missense	probably benign	0.02
R4402:Plekhn1	UTSW	4	156225356	missense	probably damaging	1.00
R4405:Plekhn1	UTSW	4	156225273	splice site	probably null
R4477:Plekhn1	UTSW	4	156223399	missense	probably damaging	1.00
R4515:Plekhn1	UTSW	4	156225531	missense	probably damaging	1.00
R4517:Plekhn1	UTSW	4	156225531	missense	probably damaging	1.00
R4518:Plekhn1	UTSW	4	156225531	missense	probably damaging	1.00
R5086:Plekhn1	UTSW	4	156222424	missense	probably benign	0.00
R5092:Plekhn1	UTSW	4	156224765	missense	possibly damaging	0.93
R5201:Plekhn1	UTSW	4	156230527	missense	probably benign	0.00
R5896:Plekhn1	UTSW	4	156223874	missense	probably benign	0.02
R5913:Plekhn1	UTSW	4	156222695	missense	probably damaging	1.00
R6124:Plekhn1	UTSW	4	156225239	missense	possibly damaging	0.87
R6244:Plekhn1	UTSW	4	156230558	splice site	probably null
R6263:Plekhn1	UTSW	4	156225193	critical splice donor site	probably null
R6430:Plekhn1	UTSW	4	156221804	missense	probably benign	0.00
R6703:Plekhn1	UTSW	4	156224793	missense	probably benign	0.00
R6723:Plekhn1	UTSW	4	156224569	missense	probably damaging	1.00
R6741:Plekhn1	UTSW	4	156221792	missense	probably damaging	0.98
R7057:Plekhn1	UTSW	4	156233917	missense	probably damaging	0.99
R7135:Plekhn1	UTSW	4	156223335	missense	probably benign	0.04
R7347:Plekhn1	UTSW	4	156222671	missense	probably benign	0.00
R7408:Plekhn1	UTSW	4	156233961	missense	probably benign	0.14
R7423:Plekhn1	UTSW	4	156230685	missense	probably benign	0.15
R7500:Plekhn1	UTSW	4	156233314	missense	probably benign	0.19
R7613:Plekhn1	UTSW	4	156224820	missense	probably benign	0.00
R7626:Plekhn1	UTSW	4	156225653	missense	probably benign	0.00
R7738:Plekhn1	UTSW	4	156232234	missense	probably damaging	1.00
R8065:Plekhn1	UTSW	4	156228240	missense	possibly damaging	0.75
R8067:Plekhn1	UTSW	4	156228240	missense	possibly damaging	0.75
R8744:Plekhn1	UTSW	4	156233907	missense	probably damaging	1.00
R8746:Plekhn1	UTSW	4	156232225	missense	probably damaging	1.00
R8839:Plekhn1	UTSW	4	156222589	intron	probably benign
R8841:Plekhn1	UTSW	4	156232198	missense	probably damaging	0.98
R8900:Plekhn1	UTSW	4	156225621	missense	possibly damaging	0.87
R9208:Plekhn1	UTSW	4	156222402	missense	possibly damaging	0.86
R9723:Plekhn1	UTSW	4	156222418	missense	probably benign	0.00
X0023:Plekhn1	UTSW	4	156222354	missense	possibly damaging	0.76
X0065:Plekhn1	UTSW	4	156224915	critical splice donor site	probably null
Z1176:Plekhn1	UTSW	4	156223431	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- GGCCCGCACTATGCTATTTACCAG -3'
(R):5'- TTTCCAGAAAGCCCTCGCTCAAG -3'

Sequencing Primer
(F):5'- AAGCTTCCACACAGGTGTTC -3'
(R):5'- CCTCGCTCAAGGGAAACAGG -3'

Posted On

2013-05-09