Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01060:Gpld1'

52523

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 #

IGL01060

Quality Score

Status

Chromosome

Chromosomal Location

24943152-24992501 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24982566 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 627 (G627S)

Ref Sequence

ENSEMBL: ENSMUSP00000021773 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021772] [ENSMUST00000021773]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021772

SMART Domains

Protein: ENSMUSP00000021772
Gene: ENSMUSG00000021339

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
low complexity region	292	306	N/A	INTRINSIC
coiled coil region	323	359	N/A	INTRINSIC
transmembrane domain	374	396	N/A	INTRINSIC
transmembrane domain	409	426	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000021773
AA Change: G627S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021773
Gene: ENSMUSG00000021340
AA Change: G627S

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

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
Anks4b	A	G	7: 120,173,925	T3A	possibly damaging	Het
Arhgef26	T	A	3: 62,340,121	S209T	probably benign	Het
Ccdc78	A	G	17: 25,788,832	D281G	probably damaging	Het
Ccnb3	A	T	X: 6,980,274	N1362K	probably benign	Het
Dnah2	T	C	11: 69,478,092	N1662S	possibly damaging	Het
Ern2	T	A	7: 122,170,092	R904W	probably damaging	Het
Fam120c	C	T	X: 151,469,587	P1045S	probably benign	Het
Gm12887	C	T	4: 121,616,413		probably benign	Het
Ikbkap	C	T	4: 56,784,537		probably null	Het
Krt77	T	A	15: 101,860,880		probably benign	Het
Ltf	A	T	9: 111,022,882		probably null	Het
Map3k6	G	T	4: 133,247,302		probably null	Het
Nsd1	G	A	13: 55,263,429	G1431D	probably damaging	Het
Plekhm2	C	T	4: 141,642,645		probably null	Het
Popdc2	T	A	16: 38,373,965	N249K	probably damaging	Het
Ppm1h	A	G	10: 122,907,571	D400G	possibly damaging	Het
Rps6ka1	A	T	4: 133,860,870	S320T	probably damaging	Het
Rsph6a	C	T	7: 19,054,868	R42*	probably null	Het
Sap130	T	C	18: 31,715,443	L967P	probably damaging	Het
Smyd2	T	C	1: 189,897,470	E121G	possibly damaging	Het
Sspo	G	A	6: 48,449,479	W144*	probably null	Het
Taar6	A	G	10: 23,985,072	V192A	probably benign	Het
Tbc1d24	A	T	17: 24,185,828	V114E	probably damaging	Het
Trim16	T	C	11: 62,820,704	I67T	probably benign	Het
Ttll7	A	G	3: 146,909,582	D267G	possibly damaging	Het
Ttn	T	C	2: 76,889,729		probably benign	Het
Vmn2r56	T	A	7: 12,713,089	I379F	probably damaging	Het
Zfp14	T	C	7: 30,038,085	T492A	probably damaging	Het

Other mutations in Gpld1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Gpld1	APN	13	24986922	splice site	probably benign
IGL00886:Gpld1	APN	13	24962353	nonsense	probably null
IGL01450:Gpld1	APN	13	24979681	missense	probably damaging	1.00
IGL02176:Gpld1	APN	13	24984209	critical splice donor site	probably null
IGL02288:Gpld1	APN	13	24979683	nonsense	probably null
IGL02323:Gpld1	APN	13	24982774	missense	probably damaging	0.97
IGL02588:Gpld1	APN	13	24943699	missense	probably damaging	1.00
IGL02832:Gpld1	APN	13	24952878	missense	probably damaging	1.00
IGL02989:Gpld1	APN	13	24990036	missense	possibly damaging	0.87
IGL03282:Gpld1	APN	13	24971408	missense	probably benign	0.01
IGL03345:Gpld1	APN	13	24987024	missense	probably damaging	1.00
R0017:Gpld1	UTSW	13	24990118	missense	probably damaging	1.00
R0017:Gpld1	UTSW	13	24990118	missense	probably damaging	1.00
R0308:Gpld1	UTSW	13	24962835	missense	possibly damaging	0.81
R0441:Gpld1	UTSW	13	24962320	nonsense	probably null
R1172:Gpld1	UTSW	13	24957566	splice site	probably null
R1411:Gpld1	UTSW	13	24962808	missense	probably damaging	0.99
R1502:Gpld1	UTSW	13	24971416	missense	probably benign	0.00
R1565:Gpld1	UTSW	13	24956068	missense	probably damaging	0.99
R1931:Gpld1	UTSW	13	24943710	missense	possibly damaging	0.71
R1999:Gpld1	UTSW	13	24962647	missense	probably benign	0.23
R2150:Gpld1	UTSW	13	24962647	missense	probably benign	0.23
R2240:Gpld1	UTSW	13	24982507	critical splice acceptor site	probably null
R2327:Gpld1	UTSW	13	24984821	missense	probably benign	0.00
R2373:Gpld1	UTSW	13	24962856	missense	probably benign	0.26
R3153:Gpld1	UTSW	13	24943620	missense	unknown
R3154:Gpld1	UTSW	13	24943620	missense	unknown
R3154:Gpld1	UTSW	13	24956163	critical splice donor site	probably null
R3911:Gpld1	UTSW	13	24962322	missense	probably damaging	1.00
R4616:Gpld1	UTSW	13	24984816	missense	probably damaging	1.00
R4660:Gpld1	UTSW	13	24982603	splice site	probably null
R4755:Gpld1	UTSW	13	24979688	missense	probably benign	0.13
R4755:Gpld1	UTSW	13	24979692	nonsense	probably null
R4835:Gpld1	UTSW	13	24982716	missense	probably benign	0.00
R4895:Gpld1	UTSW	13	24979728	missense	probably damaging	0.97
R5050:Gpld1	UTSW	13	24962756	missense	probably benign	0.00
R5182:Gpld1	UTSW	13	24984070	splice site	probably null
R6161:Gpld1	UTSW	13	24971414	missense	probably benign	0.00
R6626:Gpld1	UTSW	13	24979970	missense	probably damaging	1.00
R7021:Gpld1	UTSW	13	24984708	missense	probably damaging	1.00
R7577:Gpld1	UTSW	13	24962405	missense	probably benign	0.05
R7583:Gpld1	UTSW	13	24975760	missense	probably damaging	1.00
R7659:Gpld1	UTSW	13	24979981	missense	probably benign	0.00
R7737:Gpld1	UTSW	13	24975726	missense	probably damaging	1.00
R7738:Gpld1	UTSW	13	24962322	missense	probably damaging	1.00
R7752:Gpld1	UTSW	13	24962775	missense	probably damaging	1.00
R7759:Gpld1	UTSW	13	24962400	missense	probably damaging	0.99
R7901:Gpld1	UTSW	13	24962775	missense	probably damaging	1.00
R8855:Gpld1	UTSW	13	24986907	missense	probably benign	0.00
R8866:Gpld1	UTSW	13	24986907	missense	probably benign	0.00
R9150:Gpld1	UTSW	13	24962322	missense	probably damaging	1.00
R9228:Gpld1	UTSW	13	24952917	missense	probably damaging	1.00
R9359:Gpld1	UTSW	13	24979729	missense	probably benign	0.00
R9403:Gpld1	UTSW	13	24979729	missense	probably benign	0.00
X0024:Gpld1	UTSW	13	24982596	missense	probably benign

Posted On

2013-06-21