Mutagenetix > Incidental Mutation

Incidental Mutation 'R1803:Plekhn1'

203271

Institutional Source

Beutler Lab

Gene Symbol

Plekhn1

Ensembl Gene

ENSMUSG00000078485

Gene Name

pleckstrin homology domain containing, family N member 1

Synonyms

MMRRC Submission

039833-MU

Accession Numbers

Essential gene?

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

Stock #

R1803 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

156305913-156312999 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 156306838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 517 (I517N)

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: I518N

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000101196
Gene: ENSMUSG00000078485
AA Change: I518N

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: I517N

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000218699
AA Change: I517N

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219227

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	A	T	17: 79,935,095 (GRCm39)		probably benign	Het
Adgrl3	C	T	5: 81,919,464 (GRCm39)	R586*	probably null	Het
Arpp21	T	C	9: 111,956,466 (GRCm39)	T471A	possibly damaging	Het
Blnk	T	C	19: 40,940,821 (GRCm39)	E194G	probably damaging	Het
Cd44	G	A	2: 102,664,597 (GRCm39)	P332S	probably damaging	Het
Cd47	T	C	16: 49,688,169 (GRCm39)	F30L	possibly damaging	Het
Cdh23	T	C	10: 60,167,060 (GRCm39)	E1861G	probably damaging	Het
Cdkal1	T	A	13: 29,701,454 (GRCm39)	M332L	probably damaging	Het
Cul9	A	G	17: 46,814,023 (GRCm39)	S2284P	probably damaging	Het
Cyp2a5	G	T	7: 26,534,971 (GRCm39)		probably null	Het
Dcp2	T	C	18: 44,528,984 (GRCm39)	I33T	probably damaging	Het
Ddx52	A	T	11: 83,836,958 (GRCm39)	I150L	probably damaging	Het
Dennd5a	T	A	7: 109,497,820 (GRCm39)	T1067S	probably benign	Het
Dnpep	A	T	1: 75,286,058 (GRCm39)	L419*	probably null	Het
Dock8	A	G	19: 25,109,599 (GRCm39)	K927R	probably benign	Het
Dpy19l4	A	T	4: 11,281,020 (GRCm39)	V475E	possibly damaging	Het
Edf1	C	T	2: 25,450,206 (GRCm39)	S41F	probably damaging	Het
Elapor2	A	G	5: 9,477,832 (GRCm39)	H410R	probably benign	Het
Emilin1	C	T	5: 31,075,082 (GRCm39)	P441L	possibly damaging	Het
Epha3	T	C	16: 63,422,651 (GRCm39)	K579E	probably benign	Het
Exoc1	A	G	5: 76,709,288 (GRCm39)	N23S	probably benign	Het
Flt3	C	A	5: 147,303,865 (GRCm39)	E358*	probably null	Het
Fzd1	A	T	5: 4,806,385 (GRCm39)	I399K	probably damaging	Het
Gdi2	T	A	13: 3,614,547 (GRCm39)	Y333*	probably null	Het
Gm10479	A	G	12: 20,483,654 (GRCm39)	H91R	probably benign	Het
Gm10842	G	A	11: 105,037,867 (GRCm39)	R50K	unknown	Het
Grin2c	A	T	11: 115,151,558 (GRCm39)		probably null	Het
Grk2	C	T	19: 4,344,911 (GRCm39)	V53M	probably damaging	Het
H2-M10.2	C	T	17: 36,596,763 (GRCm39)	M104I	probably benign	Het
Hyou1	C	T	9: 44,295,479 (GRCm39)	Q290*	probably null	Het
Inka1	A	G	9: 107,861,938 (GRCm39)	V128A	probably benign	Het
Itgb2	T	C	10: 77,400,624 (GRCm39)	S746P	probably benign	Het
Jmjd7	C	T	2: 119,860,589 (GRCm39)	L39F	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klhl2	T	C	8: 65,212,831 (GRCm39)	E236G	probably damaging	Het
Krtap19-4	C	A	16: 88,681,879 (GRCm39)	G26C	unknown	Het
Krtap4-16	G	A	11: 99,741,998 (GRCm39)	T134I	possibly damaging	Het
Lamb2	A	G	9: 108,365,298 (GRCm39)	H1318R	probably benign	Het
Mab21l3	G	A	3: 101,742,446 (GRCm39)	T38M	probably benign	Het
Mfsd10	A	T	5: 34,794,094 (GRCm39)	D6E	possibly damaging	Het
Mnat1	G	T	12: 73,226,007 (GRCm39)	G91*	probably null	Het
Mns1	A	T	9: 72,360,016 (GRCm39)	I389F	probably damaging	Het
Morc1	A	T	16: 48,443,001 (GRCm39)	T829S	probably benign	Het
Morn5	T	A	2: 35,943,089 (GRCm39)	V63E	probably benign	Het
Mybpc1	T	C	10: 88,389,157 (GRCm39)	T404A	possibly damaging	Het
Npc1l1	A	T	11: 6,178,846 (GRCm39)	M188K	probably damaging	Het
Nrcam	T	A	12: 44,618,991 (GRCm39)	M846K	probably benign	Het
Nup210	A	C	6: 91,051,264 (GRCm39)	F373C	probably damaging	Het
Or4k49	G	T	2: 111,495,099 (GRCm39)	S176I	probably damaging	Het
Or5b111	A	T	19: 13,291,535 (GRCm39)	V38E	possibly damaging	Het
Or7g18	T	C	9: 18,787,376 (GRCm39)	V248A	probably damaging	Het
Osbpl8	T	C	10: 111,110,910 (GRCm39)	S471P	probably damaging	Het
Plin4	G	T	17: 56,411,931 (GRCm39)	T700K	probably damaging	Het
Plxna4	A	T	6: 32,494,379 (GRCm39)	V79D	probably damaging	Het
Prdm16	A	T	4: 154,419,718 (GRCm39)	M897K	probably damaging	Het
Ptprg	T	A	14: 12,091,410 (GRCm38)		probably null	Het
Rcan2	G	T	17: 44,347,924 (GRCm39)	C211F	probably damaging	Het
Rigi	A	G	4: 40,224,013 (GRCm39)	S289P	probably benign	Het
Rxfp1	C	T	3: 79,645,076 (GRCm39)	C9Y	probably benign	Het
Scn2a	G	A	2: 65,501,111 (GRCm39)		probably null	Het
Scnn1a	A	C	6: 125,309,157 (GRCm39)	R264S	probably damaging	Het
Sema4g	T	C	19: 44,986,459 (GRCm39)	V345A	probably benign	Het
Sgo2b	T	A	8: 64,380,426 (GRCm39)	D802V	probably benign	Het
Slc25a21	G	A	12: 56,904,872 (GRCm39)	T54I	probably benign	Het
Slc25a46	C	T	18: 31,727,641 (GRCm39)	E223K	probably damaging	Het
Slc25a54	A	G	3: 109,010,013 (GRCm39)	I171V	probably benign	Het
Slc7a6	T	C	8: 106,919,088 (GRCm39)	V224A	possibly damaging	Het
Smchd1	A	T	17: 71,694,001 (GRCm39)	V1248E	probably damaging	Het
Sort1	C	A	3: 108,233,015 (GRCm39)	F196L	probably damaging	Het
Sptbn4	G	A	7: 27,118,008 (GRCm39)	T357M	probably damaging	Het
Srrm3	T	A	5: 135,885,983 (GRCm39)	W308R	probably damaging	Het
Stard9	A	T	2: 120,531,970 (GRCm39)	E2742D	probably benign	Het
Tas1r1	T	A	4: 152,116,705 (GRCm39)	I310F	probably damaging	Het
Tas1r3	G	A	4: 155,944,927 (GRCm39)	R765C	probably damaging	Het
Tff1	A	T	17: 31,380,560 (GRCm39)	C85*	probably null	Het
Tlr11	C	T	14: 50,598,104 (GRCm39)	T30I	probably benign	Het
Trio	T	C	15: 27,748,426 (GRCm39)	T1265A	probably benign	Het
Ttc7b	T	C	12: 100,373,261 (GRCm39)	M338V	possibly damaging	Het
Umod	T	A	7: 119,063,947 (GRCm39)	S620C	probably damaging	Het
Ust	C	A	10: 8,173,819 (GRCm39)		probably null	Het
Vmn1r176	A	T	7: 23,534,609 (GRCm39)	S181R	probably damaging	Het
Vmn1r202	T	C	13: 22,686,313 (GRCm39)	T35A	probably benign	Het
Vmn1r39	C	A	6: 66,781,895 (GRCm39)	R104L	probably benign	Het
Vps13b	T	A	15: 35,430,351 (GRCm39)	Y286*	probably null	Het
Zfp579	G	A	7: 4,996,769 (GRCm39)	R381C	probably damaging	Het
Zfp85	A	G	13: 67,899,747 (GRCm39)	S71P	probably benign	Het
Zfyve16	A	T	13: 92,640,593 (GRCm39)	V1254E	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
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'- GATCTTTGGGCTTTGACACTAGAG -3'
(R):5'- GGTGCCAGGACTGAATACAC -3'

Sequencing Primer
(F):5'- GTGTAGAATGTGACTTACAAGCTG -3'
(R):5'- GTGCCAGGACTGAATACACTACAG -3'

Posted On

2014-06-23