Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02266:Plcd1'

286919

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plcd1

Ensembl Gene

ENSMUSG00000010660

Gene Name

phospholipase C, delta 1

Synonyms

PLC-delta 1

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.458) question?

Stock #

IGL02266

Quality Score

Status

Chromosome

Chromosomal Location

119071527-119093502 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 119074787 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149813 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010804] [ENSMUST00000051386] [ENSMUST00000074734] [ENSMUST00000126251] [ENSMUST00000141185] [ENSMUST00000213464] [ENSMUST00000214470]

Predicted Effect

probably benign
Transcript: ENSMUST00000010804

SMART Domains

Protein: ENSMUSP00000010804
Gene: ENSMUSG00000010660

Domain	Start	End	E-Value	Type
PH	22	132	9.41e-10	SMART
EFh	144	172	2.87e-2	SMART
EFh	180	208	9.34e1	SMART
Pfam:EF-hand_like	213	295	1.2e-23	PFAM
PLCXc	296	440	5.47e-94	SMART
low complexity region	461	472	N/A	INTRINSIC
PLCYc	492	609	1.22e-68	SMART
C2	630	735	1.78e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000051386

SMART Domains

Protein: ENSMUSP00000061731
Gene: ENSMUSG00000038775

Domain	Start	End	E-Value	Type
GEL	14	114	4.59e-13	SMART
GEL	135	227	4.18e-16	SMART
GEL	252	348	8.35e-25	SMART
GEL	391	488	7.92e-17	SMART
GEL	508	594	4.38e-19	SMART
GEL	613	706	7.8e-16	SMART
VHP	824	859	2.12e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000074734

SMART Domains

Protein: ENSMUSP00000074294
Gene: ENSMUSG00000038775

Domain	Start	End	E-Value	Type
GEL	14	114	4.59e-13	SMART
GEL	135	227	4.18e-16	SMART
GEL	252	348	8.35e-25	SMART
GEL	391	488	7.92e-17	SMART
GEL	508	594	4.38e-19	SMART
VHP	740	775	2.12e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126251

SMART Domains

Protein: ENSMUSP00000116262
Gene: ENSMUSG00000038775

Domain	Start	End	E-Value	Type
Blast:GEL	1	56	9e-21	BLAST
GEL	63	149	4.38e-19	SMART
GEL	168	261	7.8e-16	SMART
VHP	357	392	2.12e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000141185

SMART Domains

Protein: ENSMUSP00000116546
Gene: ENSMUSG00000038775

Domain	Start	End	E-Value	Type
GEL	7	104	7.92e-17	SMART
GEL	124	210	4.38e-19	SMART
GEL	229	322	7.8e-16	SMART
VHP	440	475	2.12e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153630

Predicted Effect

probably benign
Transcript: ENSMUST00000213464

Predicted Effect

probably benign
Transcript: ENSMUST00000214470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214491

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the phospholipase C family. Phospholipase C isozymes play critical roles in intracellular signal transduction by catalyzing the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) into the second messengers diacylglycerol (DAG) and inositol triphosphate (IP3). The encoded protein functions as a tumor suppressor in several types of cancer, and mutations in this gene are a cause of hereditary leukonychia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene show reduced body size and various abnormalities of the skin and hair including alopecia, epidermal hyperplasia, enlarged sebaceous glands, various kinds of cysts, and skin tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	A	1: 71,268,201	Q1974*	probably null	Het
Actl11	G	T	9: 107,931,183	V902L	possibly damaging	Het
Adam11	T	C	11: 102,772,667	V274A	probably damaging	Het
Akr1b8	A	G	6: 34,354,273	I15V	probably benign	Het
Chrm3	T	A	13: 9,877,278	Q574L	probably damaging	Het
Crk	C	A	11: 75,679,589	R16S	probably damaging	Het
Ep400	T	C	5: 110,695,297		probably benign	Het
Eya1	T	C	1: 14,184,501	N369S	possibly damaging	Het
Fam220a	T	C	5: 143,563,571	V246A	possibly damaging	Het
Fastkd5	A	T	2: 130,615,561	F370I	probably damaging	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Gpr75	A	C	11: 30,891,977	Q294P	probably benign	Het
Hspg2	T	C	4: 137,510,577	F204L	probably damaging	Het
Lrrc8c	A	C	5: 105,608,248	I630L	probably benign	Het
Narfl	T	A	17: 25,780,326	I238N	possibly damaging	Het
Nlrc4	T	C	17: 74,446,167	D407G	possibly damaging	Het
Olfr1054	T	A	2: 86,332,979	I126F	probably damaging	Het
Olfr1314	G	A	2: 112,092,243	L153F	probably benign	Het
Pank1	A	C	19: 34,813,686		probably benign	Het
Pde3b	A	G	7: 114,526,966	T812A	probably damaging	Het
Phtf2	T	G	5: 20,805,799	K63Q	probably damaging	Het
Pkhd1l1	A	T	15: 44,573,614	H3456L	probably damaging	Het
Ppip5k2	C	T	1: 97,733,972	V734I	possibly damaging	Het
Ppp2r2d	A	G	7: 138,868,437	N38S	probably damaging	Het
Rnpepl1	T	A	1: 92,916,889	W368R	probably damaging	Het
Sidt1	T	C	16: 44,254,985	D670G	possibly damaging	Het
Slc12a2	T	A	18: 57,912,020		probably benign	Het
Tekt5	A	T	16: 10,379,042	I315N	probably benign	Het
Trappc11	A	C	8: 47,505,731	C42G	probably damaging	Het
Trerf1	C	T	17: 47,315,405		noncoding transcript	Het
Ubqlnl	C	A	7: 104,149,547	E248*	probably null	Het
Ulk4	G	T	9: 121,081,700	T1086K	probably benign	Het
Unc45a	A	T	7: 80,328,486	D680E	probably damaging	Het
Vmn2r107	T	C	17: 20,356,777	Y346H	probably damaging	Het
Vmn2r73	A	G	7: 85,875,799	I47T	possibly damaging	Het
Zbtb9	T	C	17: 26,974,155	V178A	probably benign	Het
Zc3hav1	A	T	6: 38,332,168	M573K	probably benign	Het
Zfp608	T	C	18: 54,897,581	T1096A	probably benign	Het

Other mutations in Plcd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01621:Plcd1	APN	9	119076178	missense	probably damaging	1.00
IGL01634:Plcd1	APN	9	119073789	missense	probably damaging	0.99
IGL01992:Plcd1	APN	9	119075985	missense	probably benign
IGL02246:Plcd1	APN	9	119072609	missense	probably benign	0.16
IGL02270:Plcd1	APN	9	119084641	missense	probably damaging	1.00
IGL02281:Plcd1	APN	9	119074773	missense	probably benign	0.00
IGL02324:Plcd1	APN	9	119072642	missense	probably damaging	0.97
IGL02936:Plcd1	APN	9	119074199	missense	probably damaging	1.00
IGL03348:Plcd1	APN	9	119072490	missense	possibly damaging	0.91
R0366:Plcd1	UTSW	9	119081136	missense	probably damaging	0.99
R1765:Plcd1	UTSW	9	119071806	missense	probably damaging	1.00
R3704:Plcd1	UTSW	9	119076209	missense	possibly damaging	0.85
R5143:Plcd1	UTSW	9	119074451	nonsense	probably null
R5587:Plcd1	UTSW	9	119073832	missense	probably benign
R5877:Plcd1	UTSW	9	119076172	missense	probably damaging	1.00
R6043:Plcd1	UTSW	9	119072599	missense	probably damaging	1.00
R6103:Plcd1	UTSW	9	119072041	missense	probably benign	0.16
R6338:Plcd1	UTSW	9	119074991	missense	probably damaging	1.00
R6339:Plcd1	UTSW	9	119074991	missense	probably damaging	1.00
R6496:Plcd1	UTSW	9	119072641	missense	possibly damaging	0.79
R6516:Plcd1	UTSW	9	119076203	missense	probably damaging	0.99
R6646:Plcd1	UTSW	9	119075032	missense	probably damaging	0.99
R6854:Plcd1	UTSW	9	119074321	splice site	probably null
R6955:Plcd1	UTSW	9	119071856	missense	probably benign	0.01
R7382:Plcd1	UTSW	9	119074691	missense	probably damaging	1.00
R7577:Plcd1	UTSW	9	119072254	missense	possibly damaging	0.94
R7922:Plcd1	UTSW	9	119074652	missense	possibly damaging	0.64
R8089:Plcd1	UTSW	9	119075992	missense	possibly damaging	0.95

Posted On

2015-04-16