Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02288:Gpld1'

290005

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gpld1

Ensembl Gene

ENSMUSG00000021340

Gene Name

glycosylphosphatidylinositol specific phospholipase D1

Synonyms

6330541J12Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02288

Quality Score

Status

Chromosome

Chromosomal Location

25127135-25175919 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 25163666 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 41 (Y41*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021773]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000021773
AA Change: Y486*

SMART Domains

Protein: ENSMUSP00000021773
Gene: ENSMUSG00000021340
AA Change: Y486*

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Zn_dep_PLPC	28	219	9.8e-28	PFAM
Int_alpha	377	435	7.21e-11	SMART
Int_alpha	446	503	7.43e-13	SMART
Int_alpha	509	565	7.86e-3	SMART
Int_alpha	576	643	4.09e0	SMART
Blast:Int_alpha	644	708	2e-24	BLAST
Int_alpha	716	774	1.86e-4	SMART
Blast:Int_alpha	789	837	1e-16	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000143010
AA Change: Y41*

SMART Domains

Protein: ENSMUSP00000120943
Gene: ENSMUSG00000021340
AA Change: Y41*

Domain	Start	End	E-Value	Type
Int_alpha	1	58	7.43e-13	SMART
Int_alpha	64	117	2.31e0	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Many proteins are tethered to the extracellular face of eukaryotic plasma membranes by a glycosylphosphatidylinositol (GPI) anchor. The GPI-anchor is a glycolipid found on many blood cells. The protein encoded by this gene is a GPI degrading enzyme. Glycosylphosphatidylinositol specific phospholipase D1 hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans, thereby releasing the attached protein from the plasma membrane. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid1b	A	G	17: 5,314,315 (GRCm39)	M706V	possibly damaging	Het
Clec1b	T	A	6: 129,374,586 (GRCm39)	D3E	probably damaging	Het
Dqx1	A	G	6: 83,037,309 (GRCm39)	H324R	probably damaging	Het
Ep400	A	G	5: 110,831,702 (GRCm39)		probably benign	Het
Ewsr1	T	C	11: 5,043,689 (GRCm39)	T32A	possibly damaging	Het
Exoc1	C	A	5: 76,693,160 (GRCm39)	H349N	probably benign	Het
Fgg	T	C	3: 82,915,460 (GRCm39)	Y26H	probably benign	Het
Gpr152	A	G	19: 4,193,694 (GRCm39)	M412V	probably benign	Het
Matn2	T	A	15: 34,422,532 (GRCm39)	C540S	probably damaging	Het
Nars1	T	C	18: 64,643,606 (GRCm39)		probably benign	Het
Ncor1	A	G	11: 62,240,229 (GRCm39)	I914T	probably benign	Het
Or1e33	A	G	11: 73,738,207 (GRCm39)	V248A	possibly damaging	Het
Or4k42	A	T	2: 111,320,065 (GRCm39)	F146Y	probably benign	Het
Rev3l	T	C	10: 39,704,212 (GRCm39)	L2086P	probably benign	Het
Snrnp200	T	A	2: 127,071,815 (GRCm39)	I1165N	probably damaging	Het
Spindoc	G	A	19: 7,335,667 (GRCm39)	Q374*	probably null	Het
Thsd1	A	C	8: 22,749,565 (GRCm39)	D751A	probably damaging	Het
Ttll4	G	A	1: 74,718,560 (GRCm39)	R137H	probably benign	Het
Vmn2r70	T	A	7: 85,214,342 (GRCm39)	Y270F	probably benign	Het
Zscan20	A	G	4: 128,480,436 (GRCm39)	I685T	probably damaging	Het

Other mutations in Gpld1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Gpld1	APN	13	25,170,905 (GRCm39)	splice site	probably benign
IGL00886:Gpld1	APN	13	25,146,336 (GRCm39)	nonsense	probably null
IGL01060:Gpld1	APN	13	25,166,549 (GRCm39)	missense	probably damaging	1.00
IGL01450:Gpld1	APN	13	25,163,664 (GRCm39)	missense	probably damaging	1.00
IGL02176:Gpld1	APN	13	25,168,192 (GRCm39)	critical splice donor site	probably null
IGL02323:Gpld1	APN	13	25,166,757 (GRCm39)	missense	probably damaging	0.97
IGL02588:Gpld1	APN	13	25,127,682 (GRCm39)	missense	probably damaging	1.00
IGL02832:Gpld1	APN	13	25,136,861 (GRCm39)	missense	probably damaging	1.00
IGL02989:Gpld1	APN	13	25,174,019 (GRCm39)	missense	possibly damaging	0.87
IGL03282:Gpld1	APN	13	25,155,391 (GRCm39)	missense	probably benign	0.01
IGL03345:Gpld1	APN	13	25,171,007 (GRCm39)	missense	probably damaging	1.00
R0017:Gpld1	UTSW	13	25,174,101 (GRCm39)	missense	probably damaging	1.00
R0017:Gpld1	UTSW	13	25,174,101 (GRCm39)	missense	probably damaging	1.00
R0308:Gpld1	UTSW	13	25,146,818 (GRCm39)	missense	possibly damaging	0.81
R0441:Gpld1	UTSW	13	25,146,303 (GRCm39)	nonsense	probably null
R1172:Gpld1	UTSW	13	25,141,549 (GRCm39)	splice site	probably null
R1411:Gpld1	UTSW	13	25,146,791 (GRCm39)	missense	probably damaging	0.99
R1502:Gpld1	UTSW	13	25,155,399 (GRCm39)	missense	probably benign	0.00
R1565:Gpld1	UTSW	13	25,140,051 (GRCm39)	missense	probably damaging	0.99
R1931:Gpld1	UTSW	13	25,127,693 (GRCm39)	missense	possibly damaging	0.71
R1999:Gpld1	UTSW	13	25,146,630 (GRCm39)	missense	probably benign	0.23
R2150:Gpld1	UTSW	13	25,146,630 (GRCm39)	missense	probably benign	0.23
R2240:Gpld1	UTSW	13	25,166,490 (GRCm39)	critical splice acceptor site	probably null
R2327:Gpld1	UTSW	13	25,168,804 (GRCm39)	missense	probably benign	0.00
R2373:Gpld1	UTSW	13	25,146,839 (GRCm39)	missense	probably benign	0.26
R3153:Gpld1	UTSW	13	25,127,603 (GRCm39)	missense	unknown
R3154:Gpld1	UTSW	13	25,140,146 (GRCm39)	critical splice donor site	probably null
R3154:Gpld1	UTSW	13	25,127,603 (GRCm39)	missense	unknown
R3911:Gpld1	UTSW	13	25,146,305 (GRCm39)	missense	probably damaging	1.00
R4616:Gpld1	UTSW	13	25,168,799 (GRCm39)	missense	probably damaging	1.00
R4660:Gpld1	UTSW	13	25,166,586 (GRCm39)	splice site	probably null
R4755:Gpld1	UTSW	13	25,163,675 (GRCm39)	nonsense	probably null
R4755:Gpld1	UTSW	13	25,163,671 (GRCm39)	missense	probably benign	0.13
R4835:Gpld1	UTSW	13	25,166,699 (GRCm39)	missense	probably benign	0.00
R4895:Gpld1	UTSW	13	25,163,711 (GRCm39)	missense	probably damaging	0.97
R5050:Gpld1	UTSW	13	25,146,739 (GRCm39)	missense	probably benign	0.00
R5182:Gpld1	UTSW	13	25,168,053 (GRCm39)	splice site	probably null
R6161:Gpld1	UTSW	13	25,155,397 (GRCm39)	missense	probably benign	0.00
R6626:Gpld1	UTSW	13	25,163,953 (GRCm39)	missense	probably damaging	1.00
R7021:Gpld1	UTSW	13	25,168,691 (GRCm39)	missense	probably damaging	1.00
R7577:Gpld1	UTSW	13	25,146,388 (GRCm39)	missense	probably benign	0.05
R7583:Gpld1	UTSW	13	25,159,743 (GRCm39)	missense	probably damaging	1.00
R7659:Gpld1	UTSW	13	25,163,964 (GRCm39)	missense	probably benign	0.00
R7737:Gpld1	UTSW	13	25,159,709 (GRCm39)	missense	probably damaging	1.00
R7738:Gpld1	UTSW	13	25,146,305 (GRCm39)	missense	probably damaging	1.00
R7752:Gpld1	UTSW	13	25,146,758 (GRCm39)	missense	probably damaging	1.00
R7759:Gpld1	UTSW	13	25,146,383 (GRCm39)	missense	probably damaging	0.99
R7901:Gpld1	UTSW	13	25,146,758 (GRCm39)	missense	probably damaging	1.00
R8855:Gpld1	UTSW	13	25,170,890 (GRCm39)	missense	probably benign	0.00
R8866:Gpld1	UTSW	13	25,170,890 (GRCm39)	missense	probably benign	0.00
R9150:Gpld1	UTSW	13	25,146,305 (GRCm39)	missense	probably damaging	1.00
R9228:Gpld1	UTSW	13	25,136,900 (GRCm39)	missense	probably damaging	1.00
R9359:Gpld1	UTSW	13	25,163,712 (GRCm39)	missense	probably benign	0.00
R9403:Gpld1	UTSW	13	25,163,712 (GRCm39)	missense	probably benign	0.00
X0024:Gpld1	UTSW	13	25,166,579 (GRCm39)	missense	probably benign

Posted On

2015-04-16