Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00944:Pld1'

27115

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pld1

Ensembl Gene

ENSMUSG00000027695

Gene Name

phospholipase D1

Synonyms

Pld1a, Pld1b

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00944

Quality Score

Status

Chromosome

Chromosomal Location

27992844-28187511 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 28099247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067757] [ENSMUST00000120834] [ENSMUST00000123539]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000067757

SMART Domains

Protein: ENSMUSP00000064694
Gene: ENSMUSG00000027695

Domain	Start	End	E-Value	Type
PX	79	209	7.97e-25	SMART
PH	220	330	5.71e-9	SMART
PLDc	459	486	6.6e-6	SMART
low complexity region	503	517	N/A	INTRINSIC
low complexity region	575	589	N/A	INTRINSIC
PLDc	853	880	1.34e-6	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000120834

SMART Domains

Protein: ENSMUSP00000113810
Gene: ENSMUSG00000027695

Domain	Start	End	E-Value	Type
PX	79	209	7.97e-25	SMART
PH	220	330	5.71e-9	SMART
PLDc	459	486	6.6e-6	SMART
low complexity region	503	517	N/A	INTRINSIC
low complexity region	575	589	N/A	INTRINSIC
PLDc	853	880	1.34e-6	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000123539

SMART Domains

Protein: ENSMUSP00000118727
Gene: ENSMUSG00000027695

Domain	Start	End	E-Value	Type
PX	79	209	7.97e-25	SMART
PH	220	330	5.71e-9	SMART
PLDc	459	486	6.6e-6	SMART
low complexity region	503	517	N/A	INTRINSIC
low complexity region	575	586	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000148827

SMART Domains

Protein: ENSMUSP00000120273
Gene: ENSMUSG00000027695

Domain	Start	End	E-Value	Type
PH	32	142	5.71e-9	SMART
PLDc	271	298	6.6e-6	SMART
low complexity region	315	329	N/A	INTRINSIC
low complexity region	387	401	N/A	INTRINSIC
PLDc	665	715	2.5e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149017

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 phosphatidylcholine-specific phospholipase which catalyzes the hydrolysis of phosphatidylcholine in order to yield phosphatidic acid and choline. The enzyme may play a role in signal transduction and subcellular trafficking. Alternative splicing results in multiple transcript variants with both catalytic and regulatory properties. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygotes for a null allele show reduced tumor growth and angiogenesis. Homozygotes for a second null allele show abnormal hepatic autophagy after food restriction. Homozygotes for a third null allele show altered platelet activation and protection from thrombosis and ischemic brain injury. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, other(2) Gene trapped(1)

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp10b	A	G	11: 43,092,988 (GRCm39)	N441S	probably damaging	Het
Bod1l	A	G	5: 41,974,166 (GRCm39)	C2383R	probably benign	Het
Dapk3	G	T	10: 81,019,910 (GRCm39)		probably null	Het
Dock6	T	C	9: 21,757,930 (GRCm39)	D58G	possibly damaging	Het
Etl4	G	A	2: 20,534,865 (GRCm39)	V107I	possibly damaging	Het
Fam163b	A	G	2: 27,003,597 (GRCm39)	L19P	probably damaging	Het
Fbxl20	A	C	11: 98,004,068 (GRCm39)	F73L	probably damaging	Het
Foxj2	T	C	6: 122,816,594 (GRCm39)	L492P	probably damaging	Het
Hfm1	A	T	5: 107,049,996 (GRCm39)	V391E	possibly damaging	Het
Ift74	T	C	4: 94,581,259 (GRCm39)	Y586H	probably damaging	Het
Klhl12	A	G	1: 134,411,491 (GRCm39)	N280S	probably benign	Het
Lctl	T	A	9: 64,040,411 (GRCm39)	Y292*	probably null	Het
Ltb	C	A	17: 35,413,642 (GRCm39)	Q49K	possibly damaging	Het
Mapk1	T	A	16: 16,853,322 (GRCm39)	D289E	probably benign	Het
Mideas	A	G	12: 84,207,322 (GRCm39)		probably benign	Het
Mroh2b	C	T	15: 4,980,609 (GRCm39)		probably benign	Het
Myot	T	C	18: 44,470,181 (GRCm39)	S53P	possibly damaging	Het
Opn5	G	A	17: 42,922,119 (GRCm39)	L28F	probably damaging	Het
Or5b97	A	T	19: 12,878,719 (GRCm39)	Y142N	probably benign	Het
Or8k39	A	G	2: 86,563,905 (GRCm39)	I17T	possibly damaging	Het
Pals2	T	C	6: 50,140,436 (GRCm39)	V152A	possibly damaging	Het
Rc3h2	A	G	2: 37,288,250 (GRCm39)		probably benign	Het
Robo2	T	A	16: 73,730,585 (GRCm39)	H1009L	possibly damaging	Het
Setd7	T	A	3: 51,440,459 (GRCm39)	D194V	probably damaging	Het
Sh3bp1	A	T	15: 78,789,314 (GRCm39)	D288V	possibly damaging	Het
Smpd4	T	C	16: 17,460,621 (GRCm39)	I809T	probably benign	Het
Spata6	C	T	4: 111,663,125 (GRCm39)		probably benign	Het
Trnau1ap	C	A	4: 132,055,817 (GRCm39)	V30L	possibly damaging	Het
Trpm4	T	C	7: 44,967,773 (GRCm39)	H386R	probably benign	Het
Ttc3	T	G	16: 94,227,620 (GRCm39)		probably null	Het
Ufd1	T	C	16: 18,643,781 (GRCm39)	V180A	possibly damaging	Het
Vmn2r102	A	G	17: 19,899,154 (GRCm39)	I499V	probably damaging	Het
Zfp112	C	A	7: 23,825,021 (GRCm39)	Q330K	probably benign	Het
Zfp668	G	A	7: 127,467,079 (GRCm39)	R166W	probably damaging	Het

Other mutations in Pld1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:Pld1	APN	3	28,142,816 (GRCm39)	missense	probably benign	0.01
IGL01140:Pld1	APN	3	28,132,386 (GRCm39)	missense	probably benign	0.01
IGL01646:Pld1	APN	3	28,153,813 (GRCm39)	missense	probably damaging	1.00
IGL01830:Pld1	APN	3	28,102,153 (GRCm39)	splice site	probably benign
IGL01946:Pld1	APN	3	28,178,766 (GRCm39)	missense	probably damaging	1.00
IGL02139:Pld1	APN	3	28,174,961 (GRCm39)	missense	probably damaging	0.98
IGL02189:Pld1	APN	3	28,174,932 (GRCm39)	missense	probably benign	0.03
IGL02476:Pld1	APN	3	28,102,188 (GRCm39)	missense	probably damaging	1.00
IGL02540:Pld1	APN	3	28,083,309 (GRCm39)	unclassified	probably benign
IGL02649:Pld1	APN	3	28,141,378 (GRCm39)	missense	probably damaging	0.98
IGL02720:Pld1	APN	3	28,141,411 (GRCm39)	missense	probably damaging	1.00
IGL02831:Pld1	APN	3	28,130,574 (GRCm39)	missense	probably damaging	0.99
IGL02953:Pld1	APN	3	28,166,396 (GRCm39)	missense	probably benign	0.03
IGL03005:Pld1	APN	3	28,141,402 (GRCm39)	missense	possibly damaging	0.78
IGL03251:Pld1	APN	3	28,142,814 (GRCm39)	missense	probably benign	0.06
IGL03331:Pld1	APN	3	28,139,994 (GRCm39)	missense	probably damaging	1.00
A9681:Pld1	UTSW	3	28,139,981 (GRCm39)	missense	probably benign	0.01
IGL03134:Pld1	UTSW	3	28,083,316 (GRCm39)	missense	probably benign	0.01
P0023:Pld1	UTSW	3	28,102,274 (GRCm39)	missense	probably damaging	1.00
R0054:Pld1	UTSW	3	28,150,033 (GRCm39)	splice site	probably benign
R0054:Pld1	UTSW	3	28,150,033 (GRCm39)	splice site	probably benign
R0282:Pld1	UTSW	3	28,132,422 (GRCm39)	missense	probably benign
R0372:Pld1	UTSW	3	28,142,787 (GRCm39)	splice site	probably null
R0454:Pld1	UTSW	3	28,178,724 (GRCm39)	missense	probably damaging	1.00
R0492:Pld1	UTSW	3	28,163,966 (GRCm39)	missense	probably damaging	0.96
R0505:Pld1	UTSW	3	28,174,971 (GRCm39)	missense	possibly damaging	0.69
R0667:Pld1	UTSW	3	28,133,327 (GRCm39)	splice site	probably null
R0678:Pld1	UTSW	3	28,174,933 (GRCm39)	missense	probably damaging	0.99
R0980:Pld1	UTSW	3	28,178,724 (GRCm39)	missense	probably damaging	1.00
R1200:Pld1	UTSW	3	28,103,435 (GRCm39)	missense	probably damaging	1.00
R1235:Pld1	UTSW	3	28,082,883 (GRCm39)	missense	probably benign	0.05
R1657:Pld1	UTSW	3	28,125,336 (GRCm39)	missense	probably benign	0.04
R1670:Pld1	UTSW	3	28,103,389 (GRCm39)	missense	probably benign	0.17
R1705:Pld1	UTSW	3	28,125,426 (GRCm39)	critical splice donor site	probably null
R1815:Pld1	UTSW	3	28,163,917 (GRCm39)	missense	probably benign	0.04
R2215:Pld1	UTSW	3	28,132,542 (GRCm39)	missense	probably benign	0.16
R3435:Pld1	UTSW	3	28,178,772 (GRCm39)	missense	probably benign	0.13
R3522:Pld1	UTSW	3	28,085,396 (GRCm39)	missense	probably damaging	1.00
R4206:Pld1	UTSW	3	28,174,932 (GRCm39)	missense	probably benign	0.03
R4553:Pld1	UTSW	3	28,178,851 (GRCm39)	missense	probably benign
R4612:Pld1	UTSW	3	28,185,882 (GRCm39)	missense	possibly damaging	0.92
R4623:Pld1	UTSW	3	28,083,393 (GRCm39)	missense	probably benign	0.01
R4840:Pld1	UTSW	3	28,130,700 (GRCm39)	missense	probably benign	0.10
R4869:Pld1	UTSW	3	28,163,951 (GRCm39)	missense	possibly damaging	0.84
R4982:Pld1	UTSW	3	28,085,447 (GRCm39)	missense	probably damaging	0.97
R5087:Pld1	UTSW	3	28,178,731 (GRCm39)	missense	probably damaging	1.00
R5182:Pld1	UTSW	3	28,099,230 (GRCm39)	missense	probably damaging	1.00
R5384:Pld1	UTSW	3	28,079,469 (GRCm39)	missense	probably damaging	1.00
R6243:Pld1	UTSW	3	28,149,954 (GRCm39)	missense	probably damaging	0.98
R6345:Pld1	UTSW	3	28,184,896 (GRCm39)	intron	probably benign
R6692:Pld1	UTSW	3	28,095,348 (GRCm39)	missense	probably benign	0.15
R6881:Pld1	UTSW	3	28,132,563 (GRCm39)	missense	possibly damaging	0.77
R7197:Pld1	UTSW	3	28,078,401 (GRCm39)	missense	probably damaging	1.00
R7267:Pld1	UTSW	3	28,130,550 (GRCm39)	missense	probably damaging	1.00
R7284:Pld1	UTSW	3	28,185,882 (GRCm39)	missense	possibly damaging	0.92
R7293:Pld1	UTSW	3	28,141,435 (GRCm39)	missense	probably damaging	0.99
R7440:Pld1	UTSW	3	28,095,419 (GRCm39)	missense	probably benign	0.01
R7524:Pld1	UTSW	3	28,078,470 (GRCm39)	missense	possibly damaging	0.77
R7747:Pld1	UTSW	3	28,141,338 (GRCm39)	missense	possibly damaging	0.66
R7882:Pld1	UTSW	3	28,099,158 (GRCm39)	missense	probably damaging	1.00
R7936:Pld1	UTSW	3	28,130,651 (GRCm39)	missense	probably damaging	1.00
R8033:Pld1	UTSW	3	28,083,359 (GRCm39)	missense	probably benign	0.02
R8269:Pld1	UTSW	3	28,079,388 (GRCm39)	missense	probably benign	0.17
R8316:Pld1	UTSW	3	28,078,361 (GRCm39)	missense	probably benign
R8427:Pld1	UTSW	3	28,142,795 (GRCm39)	missense	probably damaging	0.97
R8523:Pld1	UTSW	3	28,140,025 (GRCm39)	missense	probably damaging	1.00
R8832:Pld1	UTSW	3	28,177,846 (GRCm39)	missense
R8850:Pld1	UTSW	3	28,166,439 (GRCm39)	missense	possibly damaging	0.88
R9143:Pld1	UTSW	3	28,132,643 (GRCm39)	intron	probably benign
R9549:Pld1	UTSW	3	28,125,381 (GRCm39)	missense	possibly damaging	0.89
R9648:Pld1	UTSW	3	28,174,900 (GRCm39)	missense	probably damaging	0.99
Z1088:Pld1	UTSW	3	28,083,392 (GRCm39)	missense	probably benign
Z1176:Pld1	UTSW	3	28,185,726 (GRCm39)	nonsense	probably null
Z1176:Pld1	UTSW	3	28,130,682 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-04-17