Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02540:Pld1'

297692

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 #

IGL02540

Quality Score

Status

Chromosome

Chromosomal Location

27992844-28187511 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 28083309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067757] [ENSMUST00000120834] [ENSMUST00000123539] [ENSMUST00000125338]

AlphaFold

no structure available at present

Predicted Effect

probably benign
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 benign
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 benign
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 benign
Transcript: ENSMUST00000125338

SMART Domains

Protein: ENSMUSP00000121318
Gene: ENSMUSG00000027695

Domain	Start	End	E-Value	Type
Pfam:PX	80	126	5e-9	PFAM

Predicted Effect

probably benign
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

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adipor2	C	A	6: 119,336,456 (GRCm39)	R169L	probably benign	Het
Arhgap1	C	T	2: 91,500,584 (GRCm39)	T371I	probably damaging	Het
Brpf3	C	T	17: 29,047,328 (GRCm39)	P1031S	probably damaging	Het
Cenpu	A	G	8: 47,031,354 (GRCm39)	H245R	probably damaging	Het
Dhx36	A	G	3: 62,414,309 (GRCm39)	S18P	probably benign	Het
Dst	A	G	1: 34,174,285 (GRCm39)	T217A	probably damaging	Het
Ecpas	A	T	4: 58,805,534 (GRCm39)		probably benign	Het
Entpd8	A	G	2: 24,974,731 (GRCm39)		probably null	Het
Fez1	A	G	9: 36,761,695 (GRCm39)	R122G	probably damaging	Het
Heatr5b	A	T	17: 79,081,001 (GRCm39)	M1417K	probably damaging	Het
Higd1c	T	C	15: 100,263,247 (GRCm39)		probably benign	Het
Icosl	G	A	10: 77,905,370 (GRCm39)		probably null	Het
Il24	T	C	1: 130,815,040 (GRCm39)		probably benign	Het
Kank3	T	A	17: 34,038,161 (GRCm39)		probably benign	Het
Lrriq1	A	G	10: 103,050,880 (GRCm39)	L624P	probably benign	Het
Mov10l1	C	A	15: 88,902,414 (GRCm39)	T768K	probably benign	Het
Or14a258	T	A	7: 86,035,386 (GRCm39)	T161S	possibly damaging	Het
Or5ak25	A	G	2: 85,269,259 (GRCm39)	M81T	probably benign	Het
Or5aq7	A	T	2: 86,938,386 (GRCm39)	L115Q	probably damaging	Het
Pkn2	A	T	3: 142,515,465 (GRCm39)	F649I	probably benign	Het
Prrc2c	G	A	1: 162,550,706 (GRCm39)	S86L	probably damaging	Het
Rai1	G	A	11: 60,077,750 (GRCm39)	A605T	probably benign	Het
Reln	T	A	5: 22,239,750 (GRCm39)	Q839L	probably damaging	Het
Rrp9	T	C	9: 106,360,746 (GRCm39)		probably benign	Het
Tanc1	G	T	2: 59,663,602 (GRCm39)	G1120C	probably damaging	Het
Tmtc2	A	T	10: 105,249,200 (GRCm39)	C178S	probably benign	Het
Vmn1r172	T	A	7: 23,359,350 (GRCm39)	F78L	probably benign	Het
Zfpm1	A	G	8: 123,058,859 (GRCm39)	S160G	possibly damaging	Het

Other mutations in Pld1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Pld1	APN	3	28,099,247 (GRCm39)	critical splice donor site	probably null
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
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

2015-04-16