Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4403001:Plekhj1'

555483

Institutional Source

Beutler Lab

Gene Symbol

Plekhj1

Ensembl Gene

ENSMUSG00000035278

Gene Name

pleckstrin homology domain containing, family J member 1

Synonyms

9530063M10Rik

Accession Numbers

Essential gene?

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

Stock #

PIT4403001 (G1)

Quality Score

198.009

Status

Not validated

Chromosome

Chromosomal Location

80631933-80634404 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80632293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 150 (D150N)

Ref Sequence

ENSEMBL: ENSMUSP00000042334 (fasta)

Gene Model

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

AlphaFold

Q9D240

Predicted Effect

unknown
Transcript: ENSMUST00000036805
AA Change: D150N

SMART Domains

Protein: ENSMUSP00000042334
Gene: ENSMUSG00000035278
AA Change: D150N

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: 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

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

probably benign
Transcript: ENSMUST00000218209

Predicted Effect

probably benign
Transcript: ENSMUST00000219378

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219959
AA Change: D60N

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 92.7%
3x: 90.5%
10x: 84.9%
20x: 73.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh4	T	C	3: 138,129,939 (GRCm39)	V255A	probably damaging	Het
Ahnak	T	C	19: 8,983,540 (GRCm39)	I1608T	possibly damaging	Het
Atm	A	T	9: 53,412,282 (GRCm39)	D955E	probably benign	Het
Cacybp	A	G	1: 160,033,764 (GRCm39)	S113P	probably damaging	Het
Cenpu	C	T	8: 47,015,564 (GRCm39)	P160S	possibly damaging	Het
Clstn3	C	T	6: 124,434,982 (GRCm39)	G348D	probably damaging	Het
Cmtr1	T	G	17: 29,917,047 (GRCm39)		probably null	Het
Dlgap2	T	C	8: 14,881,528 (GRCm39)	S867P	probably damaging	Het
Fbn1	A	T	2: 125,184,831 (GRCm39)	C1654S	probably damaging	Het
Fbxl3	G	A	14: 103,332,900 (GRCm39)	T26M	possibly damaging	Het
Garnl3	A	T	2: 32,880,770 (GRCm39)	L874Q	probably damaging	Het
Gcm2	A	G	13: 41,256,315 (GRCm39)	V478A	probably benign	Het
Gm1527	T	C	3: 28,972,134 (GRCm39)	I417T	possibly damaging	Het
Grip1	A	G	10: 119,765,833 (GRCm39)	E55G	probably damaging	Het
Ighv1-4	A	G	12: 114,450,824 (GRCm39)	S95P	probably damaging	Het
Jak3	C	T	8: 72,136,993 (GRCm39)	T723I	probably benign	Het
Jup	A	G	11: 100,268,913 (GRCm39)		probably null	Het
Kcng3	A	G	17: 83,895,611 (GRCm39)	L285S	probably damaging	Het
Kmt2b	G	A	7: 30,285,114 (GRCm39)	P593S	probably damaging	Het
Matcap1	T	C	8: 106,011,376 (GRCm39)	N253D	probably benign	Het
Mstn	T	C	1: 53,100,944 (GRCm39)	M7T	probably benign	Het
Myh2	A	T	11: 67,077,533 (GRCm39)	K889N	probably benign	Het
Myo5a	A	G	9: 75,124,805 (GRCm39)	T1787A	probably damaging	Het
Nlrp14	A	T	7: 106,784,099 (GRCm39)	Q607L	possibly damaging	Het
Ntf3	C	T	6: 126,078,789 (GRCm39)	R239Q	probably damaging	Het
Nup85	G	T	11: 115,472,646 (GRCm39)	R492L	probably damaging	Het
Ogfod3	A	C	11: 121,087,561 (GRCm39)		probably null	Het
Or1j18	T	A	2: 36,624,930 (GRCm39)	I199K	probably damaging	Het
Or4c115	T	A	2: 88,927,420 (GRCm39)	M284L	probably benign	Het
Or4k40	A	T	2: 111,251,165 (GRCm39)	F44I	probably benign	Het
Or52h2	A	G	7: 103,838,667 (GRCm39)	V249A	probably benign	Het
Or8d1	T	C	9: 38,766,676 (GRCm39)	I106T	probably benign	Het
Oxct2a	A	T	4: 123,216,237 (GRCm39)	D381E	probably damaging	Het
Pcdh20	G	C	14: 88,704,462 (GRCm39)	P946R	probably damaging	Het
Pdgfc	C	T	3: 81,082,268 (GRCm39)	P154S	probably damaging	Het
Phkg1	T	C	5: 129,894,772 (GRCm39)	T260A	probably benign	Het
Pld4	T	G	12: 112,734,256 (GRCm39)	L374R	probably damaging	Het
Plppr1	T	G	4: 49,337,648 (GRCm39)	N316K	probably benign	Het
Pola2	A	C	19: 6,009,074 (GRCm39)	S95A	possibly damaging	Het
Polq	G	A	16: 36,880,949 (GRCm39)	D1038N	probably benign	Het
Prim1	A	T	10: 127,858,745 (GRCm39)	I218L	probably benign	Het
Prkcz	A	G	4: 155,377,613 (GRCm39)		probably null	Het
Ptgr1	T	C	4: 58,968,794 (GRCm39)	K282E	probably benign	Het
Rbm5	A	G	9: 107,637,535 (GRCm39)	M132T	probably damaging	Het
Scn2a	C	T	2: 65,542,252 (GRCm39)	T785M	probably damaging	Het
Setx	A	G	2: 29,023,967 (GRCm39)	E141G	probably damaging	Het
Slc24a2	A	G	4: 86,950,523 (GRCm39)	F425L	probably benign	Het
Smarcc2	A	T	10: 128,298,893 (GRCm39)	H92L	probably damaging	Het
Tatdn1	C	G	15: 58,777,596 (GRCm39)	E220Q	probably damaging	Het
Tmc7	C	A	7: 118,146,623 (GRCm39)	Q488H	probably benign	Het
Tmc7	T	G	7: 118,146,624 (GRCm39)	Q488P	possibly damaging	Het
Tmem45b	C	T	9: 31,338,188 (GRCm39)	D264N	probably benign	Het
Tmtc4	A	C	14: 123,210,641 (GRCm39)	S72R	probably benign	Het
Tnc	C	A	4: 63,882,904 (GRCm39)	D1906Y	probably damaging	Het
Ubac1	A	T	2: 25,896,609 (GRCm39)	M302K	probably benign	Het
Ubox5	A	G	2: 130,442,597 (GRCm39)	I30T	probably damaging	Het
Vwce	A	G	19: 10,615,461 (GRCm39)	N114S	possibly damaging	Het
Xpo5	T	A	17: 46,550,495 (GRCm39)	D992E	probably benign	Het
Zfhx2	G	A	14: 55,312,437 (GRCm39)	P86S	probably benign	Het
Zfp335	T	C	2: 164,735,636 (GRCm39)	H1106R	possibly damaging	Het
Zfp653	T	A	9: 21,977,053 (GRCm39)	Q166L	probably damaging	Het
Zp3r	T	A	1: 130,510,609 (GRCm39)	N436I	possibly 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
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
R2262:Plekhj1	UTSW	10	80,632,306 (GRCm39)	missense	probably benign	0.01
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'- ATGTGGACACTCAAGGGGTG -3'
(R):5'- TCCAGCTACGAATACATGCGAC -3'

Sequencing Primer
(F):5'- ACTCAAGGGGTGCTGGCAG -3'
(R):5'- CAGAGCCTCATCTTCTACAGGAATG -3'

Posted On

2019-06-07