Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00229:Plekhj1'

2243

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00229

Quality Score

Status

Chromosome

Chromosomal Location

80631933-80634404 bp(-) (GRCm39)

Type of Mutation

splice site (984 bp from exon)

DNA Base Change (assembly)

T to C at 80632436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151943 (fasta)

Gene Model

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

AlphaFold

Q9D240

Predicted Effect

probably benign
Transcript: ENSMUST00000036805
AA Change: M125V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000042334
Gene: ENSMUSG00000035278
AA Change: M125V

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: M35V

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220093

Predicted Effect

probably benign
Transcript: ENSMUST00000219378

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218036

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219767

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220002

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: 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 null
Transcript: ENSMUST00000218209

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,964,603 (GRCm39)	T929A	probably damaging	Het
Adam6b	G	A	12: 113,455,013 (GRCm39)	R610H	probably damaging	Het
Adamts12	T	A	15: 11,311,685 (GRCm39)	M1314K	probably benign	Het
Alg6	T	A	4: 99,641,291 (GRCm39)	F152I	probably damaging	Het
Aopep	A	G	13: 63,347,314 (GRCm39)		probably benign	Het
Arid5b	A	G	10: 67,964,805 (GRCm39)	S289P	probably damaging	Het
Axin1	T	C	17: 26,413,046 (GRCm39)	F780L	probably damaging	Het
C9	C	T	15: 6,512,712 (GRCm39)	S278L	possibly damaging	Het
Calr4	A	T	4: 109,101,312 (GRCm39)	I65F	probably damaging	Het
Cdh23	A	G	10: 60,359,327 (GRCm39)	V260A	probably benign	Het
Ddx25	T	C	9: 35,454,891 (GRCm39)		probably benign	Het
Dppa4	A	G	16: 48,111,446 (GRCm39)	T92A	possibly damaging	Het
Ercc5	T	C	1: 44,203,058 (GRCm39)	Y232H	probably damaging	Het
Exoc4	A	G	6: 33,895,334 (GRCm39)		probably null	Het
Fam149a	A	G	8: 45,804,823 (GRCm39)	V253A	probably damaging	Het
Fam209	C	T	2: 172,316,102 (GRCm39)	T159I	probably damaging	Het
Gcfc2	A	T	6: 81,912,996 (GRCm39)	N265I	probably damaging	Het
Glud1	T	C	14: 34,058,087 (GRCm39)	V366A	probably benign	Het
Hdac10	T	C	15: 89,012,645 (GRCm39)	T3A	probably damaging	Het
Ifnar1	T	C	16: 91,286,670 (GRCm39)	S54P	probably damaging	Het
Itpr2	T	C	6: 146,045,683 (GRCm39)	Y2561C	probably damaging	Het
Klhl30	A	G	1: 91,281,879 (GRCm39)	E160G	possibly damaging	Het
Kmt2d	A	T	15: 98,760,214 (GRCm39)	S1015T	unknown	Het
Lactb2	A	G	1: 13,730,598 (GRCm39)	M26T	probably damaging	Het
Lactbl1	A	T	4: 136,358,362 (GRCm39)	D111V	probably damaging	Het
Lig4	T	C	8: 10,022,775 (GRCm39)	Y335C	probably damaging	Het
Lrrc8e	T	A	8: 4,285,921 (GRCm39)	D715E	probably benign	Het
Med6	A	T	12: 81,626,348 (GRCm39)	V142D	possibly damaging	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mettl13	A	G	1: 162,363,434 (GRCm39)	V600A	possibly damaging	Het
Mpdz	A	T	4: 81,228,461 (GRCm39)	C1314*	probably null	Het
Nbeal2	A	G	9: 110,464,937 (GRCm39)	V1009A	probably damaging	Het
Nmur2	A	G	11: 55,931,603 (GRCm39)	L36P	probably damaging	Het
Nudt2	T	A	4: 41,480,474 (GRCm39)	L119Q	probably damaging	Het
Or5b117	T	C	19: 13,431,204 (GRCm39)	M226V	possibly damaging	Het
Osbpl3	C	T	6: 50,300,048 (GRCm39)	E519K	probably damaging	Het
Pak6	A	T	2: 118,520,326 (GRCm39)	T106S	possibly damaging	Het
Pggt1b	T	G	18: 46,413,786 (GRCm39)	Q34P	probably benign	Het
Phactr4	T	C	4: 132,098,303 (GRCm39)	T322A	possibly damaging	Het
Pnpt1	T	C	11: 29,104,217 (GRCm39)		probably null	Het
Pramel32	A	G	4: 88,547,290 (GRCm39)	I214T	probably damaging	Het
Prr14l	T	C	5: 32,988,020 (GRCm39)	I492V	probably benign	Het
Ranbp2	C	A	10: 58,313,078 (GRCm39)	A1266E	probably damaging	Het
Riok3	G	A	18: 12,270,077 (GRCm39)	D140N	probably damaging	Het
Rsph4a	G	A	10: 33,790,339 (GRCm39)	E643K	probably damaging	Het
Scara3	T	G	14: 66,170,570 (GRCm39)	E103A	probably benign	Het
Sgk3	T	C	1: 9,938,609 (GRCm39)	V33A	probably damaging	Het
Slc38a4	A	G	15: 96,897,375 (GRCm39)	F480S	probably damaging	Het
Slc44a1	G	A	4: 53,543,571 (GRCm39)	V372M	probably damaging	Het
Slc9a2	A	G	1: 40,806,897 (GRCm39)	Y728C	probably benign	Het
Sox4	C	A	13: 29,136,956 (GRCm39)	G17W	probably damaging	Het
Spidr	A	T	16: 15,713,442 (GRCm39)	L847Q	probably damaging	Het
Sptb	A	G	12: 76,667,527 (GRCm39)	S857P	probably benign	Het
Syde1	A	G	10: 78,421,643 (GRCm39)	V636A	probably damaging	Het
Syna	A	G	5: 134,588,571 (GRCm39)	L126P	possibly damaging	Het
Taar2	A	G	10: 23,817,266 (GRCm39)	T269A	possibly damaging	Het
Tapbp	C	T	17: 34,144,678 (GRCm39)	T258I	probably damaging	Het
Tcf20	T	A	15: 82,741,343 (GRCm39)	Q36L	possibly damaging	Het
Tmem131l	A	T	3: 83,849,807 (GRCm39)	M260K	probably damaging	Het
Tnc	T	A	4: 63,935,061 (GRCm39)		probably benign	Het
Ugp2	T	A	11: 21,304,345 (GRCm39)	E27D	probably benign	Het
Vps35l	T	A	7: 118,403,414 (GRCm39)		probably benign	Het
Wdr27	A	T	17: 15,148,572 (GRCm39)	C140*	probably null	Het
Wnt2b	T	C	3: 104,860,449 (GRCm39)	T153A	possibly damaging	Het
Xirp2	A	T	2: 67,343,719 (GRCm39)	T1987S	probably benign	Het
Zfp36l1	C	A	12: 80,157,238 (GRCm39)	G48C	probably damaging	Het
Zfp474	A	T	18: 52,771,565 (GRCm39)	I73F	possibly damaging	Het
Zfp790	T	A	7: 29,527,988 (GRCm39)	F224L	probably benign	Het

Other mutations in Plekhj1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2011-12-09