Mutagenetix > Incidental Mutation

Incidental Mutation 'R1624:Pigo'

174864

Institutional Source

Beutler Lab

Gene Symbol

Pigo

Ensembl Gene

ENSMUSG00000028454

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class O

Synonyms

MMRRC Submission

039661-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1624 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43017635-43025819 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43024661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 146 (L146P)

Ref Sequence

ENSEMBL: ENSMUSP00000095713 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030169] [ENSMUST00000067481] [ENSMUST00000098109] [ENSMUST00000138030] [ENSMUST00000136326]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030169

SMART Domains

Protein: ENSMUSP00000030169
Gene: ENSMUSG00000028455

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
PHB	36	194	1.47e-57	SMART
coiled coil region	231	252	N/A	INTRINSIC
Pfam:Band_7_C	259	321	2.1e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000067481
AA Change: L138P

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

SMART Domains

Protein: ENSMUSP00000069749
Gene: ENSMUSG00000028454
AA Change: L138P

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

probably damaging
Transcript: ENSMUST00000098109
AA Change: L146P

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

SMART Domains

Protein: ENSMUSP00000095713
Gene: ENSMUSG00000028454
AA Change: L146P

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: ENSMUST00000123465

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125180

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131506

Predicted Effect

probably benign
Transcript: ENSMUST00000135660

SMART Domains

Protein: ENSMUSP00000123478
Gene: ENSMUSG00000028455

Domain	Start	End	E-Value	Type
PHB	2	153	4.16e-39	SMART
coiled coil region	189	210	N/A	INTRINSIC
Pfam:Band_7_C	218	280	3.6e-28	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000149333
AA Change: L140P

SMART Domains

Protein: ENSMUSP00000114917
Gene: ENSMUSG00000028454
AA Change: L140P

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: ENSMUST00000142781

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153203

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155429

Predicted Effect

probably benign
Transcript: ENSMUST00000138030

SMART Domains

Protein: ENSMUSP00000118465
Gene: ENSMUSG00000028455

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
PHB	42	200	1.47e-57	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136326

SMART Domains

Protein: ENSMUSP00000117586
Gene: ENSMUSG00000028455

Domain	Start	End	E-Value	Type
PHB	1	148	1.33e-37	SMART
coiled coil region	185	206	N/A	INTRINSIC

Meta Mutation Damage Score

0.9550

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 95.9%
20x: 91.4%

Validation Efficiency

99% (90/91)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	T	C	16: 21,472,496 (GRCm39)	Y68C	probably damaging	Het
6820408C15Rik	A	T	2: 152,276,031 (GRCm39)	H81L	probably damaging	Het
Acbd4	A	G	11: 102,994,785 (GRCm39)	T48A	probably damaging	Het
Acp3	T	A	9: 104,197,200 (GRCm39)	E146D	probably benign	Het
Acsm1	T	A	7: 119,251,796 (GRCm39)	I307N	probably damaging	Het
Adcy4	T	C	14: 56,019,384 (GRCm39)	T89A	possibly damaging	Het
Agl	T	C	3: 116,580,895 (GRCm39)	T356A	probably benign	Het
Ago1	A	G	4: 126,357,534 (GRCm39)	I47T	probably damaging	Het
Akr1c6	T	A	13: 4,496,363 (GRCm39)	Y75N	probably benign	Het
Anxa2	T	A	9: 69,386,990 (GRCm39)	S92T	probably benign	Het
Arid4b	T	C	13: 14,358,979 (GRCm39)	S585P	probably damaging	Het
Arl4d	T	C	11: 101,557,842 (GRCm39)	S123P	possibly damaging	Het
Atad2	A	T	15: 57,963,415 (GRCm39)	D1067E	probably damaging	Het
Brap	C	A	5: 121,820,922 (GRCm39)	T403K	possibly damaging	Het
Brwd1	A	T	16: 95,809,344 (GRCm39)	N1895K	possibly damaging	Het
Ccdc187	T	C	2: 26,171,087 (GRCm39)	T464A	probably benign	Het
Ccn6	G	A	10: 39,029,239 (GRCm39)	R230W	probably damaging	Het
Cdh11	T	C	8: 103,391,233 (GRCm39)		probably benign	Het
Chd9	A	T	8: 91,725,163 (GRCm39)	Y691F	probably benign	Het
Clhc1	A	T	11: 29,519,287 (GRCm39)	I365F	possibly damaging	Het
Col11a1	A	G	3: 113,951,804 (GRCm39)	Q1078R	probably damaging	Het
Creb3	G	A	4: 43,566,375 (GRCm39)	V294I	possibly damaging	Het
Cspg4	T	C	9: 56,795,754 (GRCm39)	I1163T	probably damaging	Het
Cyp3a57	A	C	5: 145,327,225 (GRCm39)		probably null	Het
Dnah3	A	T	7: 119,618,918 (GRCm39)	I1661N	probably damaging	Het
Dpysl4	A	C	7: 138,669,469 (GRCm39)	D49A	probably damaging	Het
Efhb	T	A	17: 53,733,306 (GRCm39)	I522F	probably damaging	Het
Epha4	T	C	1: 77,376,329 (GRCm39)	T517A	probably damaging	Het
Fasn	A	G	11: 120,703,937 (GRCm39)	S1466P	probably damaging	Het
Fgd6	A	T	10: 93,973,298 (GRCm39)	D1253V	probably benign	Het
Fjx1	G	A	2: 102,281,509 (GRCm39)	A142V	probably benign	Het
Foxb1	T	C	9: 69,666,598 (GRCm39)	T311A	probably benign	Het
Fpgs	A	G	2: 32,581,200 (GRCm39)		probably null	Het
Gm10024	A	G	10: 77,547,606 (GRCm39)		probably null	Het
Gnat3	A	T	5: 18,208,841 (GRCm39)	T182S	possibly damaging	Het
Igsf3	T	A	3: 101,362,543 (GRCm39)	F875I	probably benign	Het
Kif13b	A	G	14: 64,976,068 (GRCm39)	E461G	probably damaging	Het
Kif23	A	T	9: 61,832,982 (GRCm39)		probably null	Het
Kntc1	G	A	5: 123,896,540 (GRCm39)	R134Q	possibly damaging	Het
Krt33a	A	T	11: 99,905,072 (GRCm39)	Y145N	probably damaging	Het
Lama5	A	G	2: 179,848,551 (GRCm39)	V313A	probably benign	Het
Lamb1	T	C	12: 31,328,651 (GRCm39)		probably null	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mtor	C	T	4: 148,632,133 (GRCm39)	L2336F	probably damaging	Het
Naglu	T	C	11: 100,967,351 (GRCm39)	S434P	probably damaging	Het
Ncoa7	T	A	10: 30,580,655 (GRCm39)	H101L	possibly damaging	Het
Nlrc4	G	A	17: 74,752,184 (GRCm39)	T733I	possibly damaging	Het
Nr3c2	A	G	8: 77,636,573 (GRCm39)	E558G	probably damaging	Het
Nsun4	A	T	4: 115,891,397 (GRCm39)	N327K	probably benign	Het
Or11g27	A	G	14: 50,771,100 (GRCm39)	Y77C	probably damaging	Het
Or1x2	T	C	11: 50,917,952 (GRCm39)	V41A	probably damaging	Het
Or2m13	T	A	16: 19,226,454 (GRCm39)	Y104F	probably benign	Het
Or4f6	T	A	2: 111,838,877 (GRCm39)	Y218F	probably damaging	Het
Or6b13	T	C	7: 139,781,864 (GRCm39)	N273S	probably damaging	Het
Pdia2	T	A	17: 26,415,495 (GRCm39)	I441F	probably damaging	Het
Phyh	T	C	2: 4,930,494 (GRCm39)	S74P	probably benign	Het
Plce1	A	G	19: 38,713,219 (GRCm39)	D1191G	probably damaging	Het
Plrg1	T	C	3: 82,975,301 (GRCm39)		probably benign	Het
Plrg1	G	A	3: 82,977,051 (GRCm39)	R364Q	probably damaging	Het
Polr3b	T	C	10: 84,515,669 (GRCm39)	L614S	probably damaging	Het
Pramel16	A	T	4: 143,676,400 (GRCm39)	C235S	possibly damaging	Het
Prrg4	A	G	2: 104,663,027 (GRCm39)	V193A	probably damaging	Het
Prss16	T	A	13: 22,187,483 (GRCm39)	E47V	probably benign	Het
Ptpru	G	A	4: 131,499,861 (GRCm39)	T1261I	probably damaging	Het
Pycard	A	G	7: 127,591,970 (GRCm39)	S124P	possibly damaging	Het
Riok1	C	A	13: 38,221,487 (GRCm39)	D17E	probably damaging	Het
Scin	T	A	12: 40,177,929 (GRCm39)	Y102F	probably benign	Het
Scmh1	A	G	4: 120,386,425 (GRCm39)	H655R	probably damaging	Het
Scyl2	A	T	10: 89,476,598 (GRCm39)	N842K	probably benign	Het
Sec23b	T	A	2: 144,409,049 (GRCm39)	M211K	probably benign	Het
Serpina3i	A	C	12: 104,234,897 (GRCm39)	*409C	probably null	Het
Sgk2	G	A	2: 162,839,779 (GRCm39)	R129H	probably benign	Het
Slc39a13	A	G	2: 90,898,871 (GRCm39)	I80T	probably damaging	Het
Smarcad1	A	G	6: 65,029,631 (GRCm39)	D73G	probably benign	Het
Spata18	A	C	5: 73,826,888 (GRCm39)	T276P	probably damaging	Het
Srgap1	T	G	10: 121,691,278 (GRCm39)	M319L	probably benign	Het
Stx7	T	A	10: 24,060,903 (GRCm39)	V210E	probably damaging	Het
Tjp2	T	A	19: 24,108,776 (GRCm39)	H112L	probably benign	Het
Tuba8	A	T	6: 121,197,385 (GRCm39)	I16F	probably damaging	Het
Ube3c	G	A	5: 29,851,617 (GRCm39)	A815T	probably benign	Het
Vmn2r5	A	T	3: 64,417,116 (GRCm39)	V14E	probably benign	Het
Vmn2r79	A	T	7: 86,653,247 (GRCm39)		probably null	Het
Zdbf2	A	G	1: 63,343,018 (GRCm39)	T466A	possibly damaging	Het

Other mutations in Pigo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00838:Pigo	APN	4	43,021,767 (GRCm39)	missense	possibly damaging	0.63
IGL02176:Pigo	APN	4	43,019,352 (GRCm39)	missense	probably benign	0.20
IGL03197:Pigo	APN	4	43,022,103 (GRCm39)	missense	possibly damaging	0.92
R0207:Pigo	UTSW	4	43,023,824 (GRCm39)	splice site	probably benign
R0464:Pigo	UTSW	4	43,019,814 (GRCm39)	missense	probably benign	0.02
R0891:Pigo	UTSW	4	43,020,519 (GRCm39)	nonsense	probably null
R1445:Pigo	UTSW	4	43,021,460 (GRCm39)	missense	probably benign
R1484:Pigo	UTSW	4	43,024,779 (GRCm39)	missense	probably damaging	0.99
R1547:Pigo	UTSW	4	43,020,689 (GRCm39)	missense	probably benign	0.01
R1847:Pigo	UTSW	4	43,024,710 (GRCm39)	nonsense	probably null
R3110:Pigo	UTSW	4	43,021,083 (GRCm39)	missense	probably benign	0.00
R3111:Pigo	UTSW	4	43,021,083 (GRCm39)	missense	probably benign	0.00
R3112:Pigo	UTSW	4	43,021,083 (GRCm39)	missense	probably benign	0.00
R3824:Pigo	UTSW	4	43,020,909 (GRCm39)	missense	possibly damaging	0.95
R3850:Pigo	UTSW	4	43,025,084 (GRCm39)	missense	probably benign	0.01
R3980:Pigo	UTSW	4	43,019,231 (GRCm39)	missense	probably damaging	1.00
R3982:Pigo	UTSW	4	43,023,482 (GRCm39)	missense	probably benign	0.00
R4520:Pigo	UTSW	4	43,020,301 (GRCm39)	missense	probably benign	0.16
R5033:Pigo	UTSW	4	43,019,412 (GRCm39)	missense	probably null	1.00
R5054:Pigo	UTSW	4	43,021,337 (GRCm39)	missense	probably damaging	1.00
R5240:Pigo	UTSW	4	43,020,675 (GRCm39)	missense	possibly damaging	0.95
R5390:Pigo	UTSW	4	43,019,645 (GRCm39)	critical splice donor site	probably null
R5468:Pigo	UTSW	4	43,024,562 (GRCm39)	critical splice donor site	probably null
R5775:Pigo	UTSW	4	43,023,475 (GRCm39)	missense	probably damaging	1.00
R5839:Pigo	UTSW	4	43,022,104 (GRCm39)	missense	probably damaging	1.00
R5924:Pigo	UTSW	4	43,023,389 (GRCm39)	nonsense	probably null
R6111:Pigo	UTSW	4	43,019,724 (GRCm39)	missense	probably benign	0.18
R6451:Pigo	UTSW	4	43,021,412 (GRCm39)	missense	probably benign
R6533:Pigo	UTSW	4	43,022,697 (GRCm39)	missense	probably benign	0.07
R6884:Pigo	UTSW	4	43,022,627 (GRCm39)	missense	possibly damaging	0.88
R7026:Pigo	UTSW	4	43,023,380 (GRCm39)	nonsense	probably null
R7591:Pigo	UTSW	4	43,025,093 (GRCm39)	missense	probably benign
R7876:Pigo	UTSW	4	43,020,671 (GRCm39)	missense	probably benign	0.00
R8754:Pigo	UTSW	4	43,024,724 (GRCm39)	missense	probably benign	0.39
R8794:Pigo	UTSW	4	43,023,787 (GRCm39)	missense	possibly damaging	0.48
R9646:Pigo	UTSW	4	43,017,967 (GRCm39)	missense	probably damaging	0.99
R9782:Pigo	UTSW	4	43,023,475 (GRCm39)	missense	probably damaging	1.00
Z1088:Pigo	UTSW	4	43,019,409 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGGCCTTTCTACACACAAGATCC -3'
(R):5'- TGATAGACGCTCTGCGGTTTGAC -3'

Sequencing Primer
(F):5'- TCTACACACAAGATCCCATCTATTTC -3'
(R):5'- GACTTTGCCCAGCCTCAG -3'

Posted On

2014-04-24