Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00838:Pigo'

13007

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pigo

Ensembl Gene

ENSMUSG00000028454

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class O

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00838

Quality Score

Status

Chromosome

Chromosomal Location

43017635-43025819 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43021767 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 392 (A392T)

Ref Sequence

ENSEMBL: ENSMUSP00000095713 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067481] [ENSMUST00000098109]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000067481
AA Change: A384T

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000069749
Gene: ENSMUSG00000028454
AA Change: A384T

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Phosphodiest	173	300	7.3e-17	PFAM
low complexity region	308	321	N/A	INTRINSIC
low complexity region	323	336	N/A	INTRINSIC
low complexity region	349	360	N/A	INTRINSIC
low complexity region	417	428	N/A	INTRINSIC
transmembrane domain	448	470	N/A	INTRINSIC
transmembrane domain	477	499	N/A	INTRINSIC
transmembrane domain	509	528	N/A	INTRINSIC
low complexity region	539	559	N/A	INTRINSIC
transmembrane domain	669	688	N/A	INTRINSIC
transmembrane domain	703	722	N/A	INTRINSIC
transmembrane domain	743	765	N/A	INTRINSIC
transmembrane domain	829	851	N/A	INTRINSIC
transmembrane domain	858	880	N/A	INTRINSIC
transmembrane domain	921	940	N/A	INTRINSIC
low complexity region	955	979	N/A	INTRINSIC
transmembrane domain	992	1014	N/A	INTRINSIC
transmembrane domain	1029	1051	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098109
AA Change: A392T

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000095713
Gene: ENSMUSG00000028454
AA Change: A392T

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
Pfam:Phosphodiest	129	304	6.5e-18	PFAM
low complexity region	316	329	N/A	INTRINSIC
low complexity region	331	344	N/A	INTRINSIC
low complexity region	357	368	N/A	INTRINSIC
low complexity region	425	436	N/A	INTRINSIC
transmembrane domain	456	478	N/A	INTRINSIC
transmembrane domain	485	507	N/A	INTRINSIC
transmembrane domain	517	536	N/A	INTRINSIC
low complexity region	547	567	N/A	INTRINSIC
transmembrane domain	677	696	N/A	INTRINSIC
transmembrane domain	711	730	N/A	INTRINSIC
transmembrane domain	751	773	N/A	INTRINSIC
transmembrane domain	837	859	N/A	INTRINSIC
transmembrane domain	866	888	N/A	INTRINSIC
transmembrane domain	953	972	N/A	INTRINSIC
low complexity region	987	1011	N/A	INTRINSIC
transmembrane domain	1024	1046	N/A	INTRINSIC
transmembrane domain	1061	1083	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131506

Predicted Effect

unknown
Transcript: ENSMUST00000149333
AA Change: A386T

SMART Domains

Protein: ENSMUSP00000114917
Gene: ENSMUSG00000028454
AA Change: A386T

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Phosphodiest	123	299	2.7e-18	PFAM
low complexity region	311	324	N/A	INTRINSIC
low complexity region	326	339	N/A	INTRINSIC
low complexity region	352	363	N/A	INTRINSIC
low complexity region	420	431	N/A	INTRINSIC
low complexity region	450	460	N/A	INTRINSIC
transmembrane domain	531	550	N/A	INTRINSIC
low complexity region	565	589	N/A	INTRINSIC
transmembrane domain	602	624	N/A	INTRINSIC
transmembrane domain	639	661	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155429

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 protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This protein is involved in the transfer of ethanolaminephosphate (EtNP) to the third mannose in GPI. At least three alternatively spliced transcripts encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano7	C	A	1: 93,402,757	N834K	possibly damaging	Het
Armc10	T	A	5: 21,661,581	V281E	probably damaging	Het
Baat	A	T	4: 49,490,352	M244K	probably damaging	Het
Cryz	T	A	3: 154,618,475	C166S	probably damaging	Het
D430041D05Rik	T	A	2: 104,201,303	K1649N	probably damaging	Het
Dennd5b	T	C	6: 149,005,363		probably benign	Het
Dock8	A	T	19: 25,175,459	R1630*	probably null	Het
Gstm5	A	G	3: 107,897,558	N122S	probably benign	Het
Klra5	C	A	6: 129,911,359	G35C	possibly damaging	Het
Klrb1f	G	A	6: 129,054,316	V159I	possibly damaging	Het
Mgl2	A	T	11: 70,134,212	M14L	probably benign	Het
Mob1a	C	T	6: 83,338,331	R78C	possibly damaging	Het
Polr3a	A	T	14: 24,475,863	N436K	probably benign	Het
Prokr1	T	C	6: 87,588,693	T57A	possibly damaging	Het
Ror1	T	G	4: 100,333,743	V99G	probably damaging	Het
Ryr2	A	T	13: 11,568,503	I4755N	probably damaging	Het
Senp5	T	C	16: 31,989,173	D394G	probably damaging	Het
Speg	A	G	1: 75,410,390	I1318V	possibly damaging	Het
Syt6	T	A	3: 103,625,626	M357K	probably damaging	Het
Tex11	A	T	X: 100,972,118	I328N	possibly damaging	Het
Ttc37	T	C	13: 76,134,791	L744P	probably damaging	Het
Vnn1	T	C	10: 23,900,779	F343L	possibly damaging	Het
Wdr72	A	T	9: 74,155,129	E519V	probably damaging	Het

Other mutations in Pigo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02176:Pigo	APN	4	43019352	missense	probably benign	0.20
IGL03197:Pigo	APN	4	43022103	missense	possibly damaging	0.92
R0207:Pigo	UTSW	4	43023824	splice site	probably benign
R0464:Pigo	UTSW	4	43019814	missense	probably benign	0.02
R0891:Pigo	UTSW	4	43020519	nonsense	probably null
R1445:Pigo	UTSW	4	43021460	missense	probably benign
R1484:Pigo	UTSW	4	43024779	missense	probably damaging	0.99
R1547:Pigo	UTSW	4	43020689	missense	probably benign	0.01
R1624:Pigo	UTSW	4	43024661	missense	probably damaging	1.00
R1847:Pigo	UTSW	4	43024710	nonsense	probably null
R3110:Pigo	UTSW	4	43021083	missense	probably benign	0.00
R3111:Pigo	UTSW	4	43021083	missense	probably benign	0.00
R3112:Pigo	UTSW	4	43021083	missense	probably benign	0.00
R3824:Pigo	UTSW	4	43020909	missense	possibly damaging	0.95
R3850:Pigo	UTSW	4	43025084	missense	probably benign	0.01
R3980:Pigo	UTSW	4	43019231	missense	probably damaging	1.00
R3982:Pigo	UTSW	4	43023482	missense	probably benign	0.00
R4520:Pigo	UTSW	4	43020301	missense	probably benign	0.16
R5033:Pigo	UTSW	4	43019412	missense	probably null	1.00
R5054:Pigo	UTSW	4	43021337	missense	probably damaging	1.00
R5240:Pigo	UTSW	4	43020675	missense	possibly damaging	0.95
R5390:Pigo	UTSW	4	43019645	critical splice donor site	probably null
R5468:Pigo	UTSW	4	43024562	critical splice donor site	probably null
R5775:Pigo	UTSW	4	43023475	missense	probably damaging	1.00
R5839:Pigo	UTSW	4	43022104	missense	probably damaging	1.00
R5924:Pigo	UTSW	4	43023389	nonsense	probably null
R6111:Pigo	UTSW	4	43019724	missense	probably benign	0.18
R6451:Pigo	UTSW	4	43021412	missense	probably benign
R6533:Pigo	UTSW	4	43022697	missense	probably benign	0.07
R6884:Pigo	UTSW	4	43022627	missense	possibly damaging	0.88
R7026:Pigo	UTSW	4	43023380	nonsense	probably null
R7591:Pigo	UTSW	4	43025093	missense	probably benign
R7876:Pigo	UTSW	4	43020671	missense	probably benign	0.00
R8754:Pigo	UTSW	4	43024724	missense	probably benign	0.39
R8794:Pigo	UTSW	4	43023787	missense	possibly damaging	0.48
R9646:Pigo	UTSW	4	43017967	missense	probably damaging	0.99
R9782:Pigo	UTSW	4	43023475	missense	probably damaging	1.00
Z1088:Pigo	UTSW	4	43019409	missense	probably damaging	1.00

Posted On

2012-12-06