Mutagenetix > Incidental Mutation

Incidental Mutation 'R2262:Plekhj1'

243884

Institutional Source

Beutler Lab

Gene Symbol

Plekhj1

Ensembl Gene

ENSMUSG00000035278

Gene Name

pleckstrin homology domain containing, family J member 1

Synonyms

9530063M10Rik

MMRRC Submission

040262-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R2262 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80631933-80634404 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80632306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 55 (N55K)

Ref Sequence

ENSEMBL: ENSMUSP00000151910 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036805] [ENSMUST00000105336] [ENSMUST00000127740] [ENSMUST00000147440] [ENSMUST00000148665] [ENSMUST00000149394] [ENSMUST00000219959] [ENSMUST00000150338] [ENSMUST00000219378] [ENSMUST00000151928] [ENSMUST00000218209]

AlphaFold

Q9D240

Predicted Effect

probably benign
Transcript: ENSMUST00000036805
AA Change: N145K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000042334
Gene: ENSMUSG00000035278
AA Change: N145K

Domain	Start	End	E-Value	Type
PH	16	110	1.48e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105336

SMART Domains

Protein: ENSMUSP00000100973
Gene: ENSMUSG00000061589

Domain	Start	End	E-Value	Type
Pfam:DOT1	115	317	9.4e-86	PFAM
low complexity region	335	348	N/A	INTRINSIC
AT_hook	407	419	4.64e-1	SMART
low complexity region	437	447	N/A	INTRINSIC
coiled coil region	558	647	N/A	INTRINSIC
low complexity region	917	936	N/A	INTRINSIC
low complexity region	948	961	N/A	INTRINSIC
low complexity region	1084	1095	N/A	INTRINSIC
low complexity region	1145	1157	N/A	INTRINSIC
low complexity region	1186	1198	N/A	INTRINSIC
low complexity region	1436	1446	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127740

Predicted Effect

probably benign
Transcript: ENSMUST00000138505

SMART Domains

Protein: ENSMUSP00000119492
Gene: ENSMUSG00000061589

Domain	Start	End	E-Value	Type
low complexity region	24	43	N/A	INTRINSIC
low complexity region	52	64	N/A	INTRINSIC
low complexity region	73	87	N/A	INTRINSIC
low complexity region	92	137	N/A	INTRINSIC
low complexity region	189	206	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147440

SMART Domains

Protein: ENSMUSP00000116478
Gene: ENSMUSG00000020211

Domain	Start	End	E-Value	Type
low complexity region	18	36	N/A	INTRINSIC
Blast:CactinC_cactus	41	67	1e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000148665

SMART Domains

Protein: ENSMUSP00000117160
Gene: ENSMUSG00000020211

Domain	Start	End	E-Value	Type
low complexity region	18	36	N/A	INTRINSIC
ZnF_U1	51	85	5.02e-9	SMART
ZnF_C2H2	54	78	1.23e1	SMART
CactinC_cactus	91	219	8.29e-35	SMART
low complexity region	300	318	N/A	INTRINSIC
low complexity region	320	420	N/A	INTRINSIC
low complexity region	423	452	N/A	INTRINSIC
low complexity region	459	484	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149394

SMART Domains

Protein: ENSMUSP00000127762
Gene: ENSMUSG00000061589

Domain	Start	End	E-Value	Type
low complexity region	24	36	N/A	INTRINSIC
low complexity region	65	77	N/A	INTRINSIC
low complexity region	315	325	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000219959
AA Change: N55K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000150338

SMART Domains

Protein: ENSMUSP00000116581
Gene: ENSMUSG00000061589

Domain	Start	End	E-Value	Type
Pfam:DOT1	1	100	3.4e-37	PFAM
low complexity region	118	131	N/A	INTRINSIC
AT_hook	190	202	4.64e-1	SMART
low complexity region	220	230	N/A	INTRINSIC
low complexity region	371	390	N/A	INTRINSIC
SCOP:d1fxkc_	396	441	1e-3	SMART
low complexity region	700	719	N/A	INTRINSIC
low complexity region	731	744	N/A	INTRINSIC
low complexity region	867	878	N/A	INTRINSIC
low complexity region	928	940	N/A	INTRINSIC
low complexity region	969	981	N/A	INTRINSIC
low complexity region	1020	1032	N/A	INTRINSIC
low complexity region	1041	1055	N/A	INTRINSIC
low complexity region	1060	1105	N/A	INTRINSIC
low complexity region	1157	1174	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218036

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220002

Predicted Effect

probably benign
Transcript: ENSMUST00000219378

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220093

Predicted Effect

probably benign
Transcript: ENSMUST00000151928

SMART Domains

Protein: ENSMUSP00000114164
Gene: ENSMUSG00000020211

Domain	Start	End	E-Value	Type
low complexity region	18	36	N/A	INTRINSIC
ZnF_U1	51	85	5.02e-9	SMART
ZnF_C2H2	54	78	1.23e1	SMART
CactinC_cactus	91	194	1.26e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217735

Predicted Effect

probably benign
Transcript: ENSMUST00000218209

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219767

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	A	G	4: 132,790,474 (GRCm39)	T572A	unknown	Het
Bco1	T	C	8: 117,859,764 (GRCm39)	L489S	probably damaging	Het
Brinp1	A	G	4: 68,747,591 (GRCm39)	Y171H	probably damaging	Het
C1rl	A	T	6: 124,483,907 (GRCm39)	I186F	probably damaging	Het
Cacna1d	A	G	14: 30,212,973 (GRCm39)	V29A	possibly damaging	Het
Calcrl	T	C	2: 84,175,517 (GRCm39)	D279G	probably damaging	Het
Cass4	T	C	2: 172,269,174 (GRCm39)	S421P	probably damaging	Het
Casz1	G	T	4: 149,013,556 (GRCm39)	R40L	probably damaging	Het
Cdh23	A	G	10: 60,152,907 (GRCm39)	V2372A	probably damaging	Het
Cdk17	T	A	10: 93,047,820 (GRCm39)	S56T	possibly damaging	Het
Ces2h	T	A	8: 105,743,191 (GRCm39)	M142K	probably damaging	Het
Cfap161	C	T	7: 83,442,580 (GRCm39)	V78I	probably benign	Het
Chst8	T	A	7: 34,375,435 (GRCm39)	M135L	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Dcc	C	T	18: 71,507,622 (GRCm39)	E917K	probably damaging	Het
Dnah11	T	A	12: 117,843,760 (GRCm39)	M4362L	probably benign	Het
Dnah11	T	C	12: 117,930,374 (GRCm39)	T3324A	probably damaging	Het
Dnah8	A	G	17: 30,892,809 (GRCm39)	N798S	probably damaging	Het
Dnajc3	A	G	14: 119,198,232 (GRCm39)	Q118R	probably damaging	Het
Dok4	A	T	8: 95,593,140 (GRCm39)	C182S	probably damaging	Het
Fnbp4	G	T	2: 90,587,748 (GRCm39)	L375F	probably damaging	Het
Gbp8	T	C	5: 105,163,999 (GRCm39)	Q433R	possibly damaging	Het
Glt1d1	A	G	5: 127,734,176 (GRCm39)	M117V	probably benign	Het
Hcar1	A	C	5: 124,016,649 (GRCm39)	D347E	probably benign	Het
Kif16b	T	C	2: 142,582,837 (GRCm39)	K563E	probably damaging	Het
Klra17	A	G	6: 129,851,757 (GRCm39)		probably null	Het
Krt35	C	T	11: 99,986,593 (GRCm39)	M140I	probably benign	Het
Lamb2	A	T	9: 108,357,809 (GRCm39)	I111F	probably damaging	Het
Nell1	C	T	7: 50,210,569 (GRCm39)	T494I	possibly damaging	Het
Noa1	G	A	5: 77,457,651 (GRCm39)	Q85*	probably null	Het
Nsun4	A	T	4: 115,910,147 (GRCm39)	S138T	probably benign	Het
Pcdh1	A	T	18: 38,331,710 (GRCm39)	L431H	probably benign	Het
Pde1a	T	A	2: 79,959,275 (GRCm39)		probably benign	Het
Pdgfra	T	C	5: 75,346,184 (GRCm39)	V778A	probably benign	Het
Ptpn20	A	G	14: 33,334,268 (GRCm39)	M49V	probably benign	Het
Rbm6	A	G	9: 107,668,289 (GRCm39)	L547P	probably damaging	Het
Rexo1	C	T	10: 80,385,403 (GRCm39)	E552K	probably benign	Het
Ryr3	C	G	2: 112,506,218 (GRCm39)	R3443P	probably damaging	Het
Saxo1	C	T	4: 86,397,212 (GRCm39)	D109N	probably damaging	Het
Setd2	A	G	9: 110,390,311 (GRCm39)		probably benign	Het
Slc22a28	T	C	19: 8,048,573 (GRCm39)	Y358C	probably benign	Het
Sptbn4	T	A	7: 27,133,782 (GRCm39)	D77V	probably damaging	Het
Ssh1	T	C	5: 114,080,764 (GRCm39)	S867G	possibly damaging	Het
Stmn2	T	C	3: 8,606,955 (GRCm39)	F25S	probably damaging	Het
Tcirg1	C	T	19: 3,953,591 (GRCm39)	R112H	possibly damaging	Het
Tekt4	T	A	17: 25,695,485 (GRCm39)	S439R	possibly damaging	Het
Trpc1	T	A	9: 95,588,986 (GRCm39)	N746I	probably damaging	Het
Tuba1c	A	G	15: 98,935,757 (GRCm39)	H406R	probably damaging	Het
Uqcrfs1	G	A	13: 30,725,090 (GRCm39)	S150L	probably benign	Het
Vcp	T	C	4: 42,980,828 (GRCm39)	T761A	probably benign	Het
Vmn1r68	T	C	7: 10,261,372 (GRCm39)	E242G	probably damaging	Het
Vmn2r29	T	A	7: 7,243,085 (GRCm39)	H22L	possibly damaging	Het
Vmn2r32	T	A	7: 7,477,618 (GRCm39)	I258L	probably benign	Het
Vmn2r37	T	A	7: 9,220,943 (GRCm39)	T307S	probably damaging	Het
Vmn2r6	T	C	3: 64,464,090 (GRCm39)	N248S	probably benign	Het
Vmn2r63	G	T	7: 42,578,031 (GRCm39)	T169N	probably benign	Het
Vmn2r67	T	C	7: 84,786,182 (GRCm39)	T608A	probably damaging	Het
Wdr87-ps	T	C	7: 29,231,987 (GRCm39)		noncoding transcript	Het
Xpo1	T	A	11: 23,234,634 (GRCm39)		probably null	Het
Zfp180	T	G	7: 23,804,049 (GRCm39)	V156G	probably benign	Het
Zfp37	A	T	4: 62,109,873 (GRCm39)	L397Q	probably damaging	Het

Other mutations in Plekhj1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Plekhj1	APN	10	80,632,436 (GRCm39)	splice site	probably null
IGL02523:Plekhj1	APN	10	80,633,683 (GRCm39)	splice site	probably null
PIT4403001:Plekhj1	UTSW	10	80,632,293 (GRCm39)	missense	unknown
R0016:Plekhj1	UTSW	10	80,632,250 (GRCm39)	missense	possibly damaging	0.90
R0288:Plekhj1	UTSW	10	80,632,444 (GRCm39)	missense	probably damaging	1.00
R1136:Plekhj1	UTSW	10	80,633,654 (GRCm39)	splice site	probably null
R3937:Plekhj1	UTSW	10	80,633,609 (GRCm39)	missense	probably damaging	0.99
R3938:Plekhj1	UTSW	10	80,633,609 (GRCm39)	missense	probably damaging	0.99
R4938:Plekhj1	UTSW	10	80,633,609 (GRCm39)	missense	probably damaging	1.00
R7231:Plekhj1	UTSW	10	80,633,492 (GRCm39)	missense	probably damaging	0.96
R7546:Plekhj1	UTSW	10	80,633,748 (GRCm39)	missense	possibly damaging	0.52
R7782:Plekhj1	UTSW	10	80,634,179 (GRCm39)	unclassified	probably benign
R8429:Plekhj1	UTSW	10	80,632,304 (GRCm39)	missense	probably benign
R9627:Plekhj1	UTSW	10	80,633,494 (GRCm39)	missense	possibly damaging	0.95
RF018:Plekhj1	UTSW	10	80,632,471 (GRCm39)	missense	not run

Predicted Primers

PCR Primer
(F):5'- CTGGATGTGGACACTCAAGG -3'
(R):5'- AGCTACGAATACATGCGACAG -3'

Sequencing Primer
(F):5'- TGGACACTCAAGGGGTGCTG -3'
(R):5'- GAGCCTCATCTTCTACAGGAATGAG -3'

Posted On

2014-10-16