Mutagenetix > Incidental Mutation

Incidental Mutation 'R5054:Pigo'

390694

Institutional Source

Beutler Lab

Gene Symbol

Pigo

Ensembl Gene

ENSMUSG00000028454

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class O

Synonyms

MMRRC Submission

042644-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5054 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43017635-43025819 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43021337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 535 (L535Q)

Ref Sequence

ENSEMBL: ENSMUSP00000095713 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000067481
AA Change: L527Q

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

SMART Domains

Protein: ENSMUSP00000069749
Gene: ENSMUSG00000028454
AA Change: L527Q

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: L535Q

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

SMART Domains

Protein: ENSMUSP00000095713
Gene: ENSMUSG00000028454
AA Change: L535Q

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

probably benign
Transcript: ENSMUST00000149333

SMART Domains

Protein: ENSMUSP00000114917
Gene: ENSMUSG00000028454

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

Meta Mutation Damage Score

0.3109

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

94% (67/71)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	G	13: 59,837,315 (GRCm39)	Y257H	probably damaging	Het
Adam28	C	T	14: 68,855,164 (GRCm39)	C659Y	probably damaging	Het
Adamtsl2	G	A	2: 26,991,732 (GRCm39)	E627K	probably damaging	Het
Atad5	T	A	11: 79,985,502 (GRCm39)	S196R	probably benign	Het
Bcam	T	A	7: 19,490,785 (GRCm39)		probably benign	Het
Birc6	A	G	17: 74,962,320 (GRCm39)	H3978R	probably damaging	Het
Btbd7	T	C	12: 102,804,471 (GRCm39)	I190V	probably benign	Het
Ccdc8	T	C	7: 16,728,970 (GRCm39)	V153A	probably damaging	Het
Cyp2a5	C	G	7: 26,540,529 (GRCm39)	R68G	probably damaging	Het
Dock3	T	C	9: 106,815,105 (GRCm39)	Y1254C	probably damaging	Het
Dync2h1	T	C	9: 7,085,007 (GRCm39)	E2794G	possibly damaging	Het
Dytn	C	A	1: 63,700,318 (GRCm39)	V271L	possibly damaging	Het
Eif1ad15	T	C	12: 88,288,071 (GRCm39)	I61V	probably benign	Het
Eif2s2	A	C	2: 154,734,590 (GRCm39)		probably null	Het
Fndc7	A	G	3: 108,788,663 (GRCm39)	S193P	probably damaging	Het
Fzr1	G	A	10: 81,207,253 (GRCm39)		probably benign	Het
Gm17472	T	C	6: 42,957,938 (GRCm39)	I69T	probably damaging	Het
Gmppa	C	A	1: 75,416,015 (GRCm39)	Y137*	probably null	Het
Gpr45	A	G	1: 43,071,809 (GRCm39)	I151V	probably benign	Het
H1f0	G	A	15: 78,912,973 (GRCm39)	A18T	probably damaging	Het
Hbb-bh1	C	T	7: 103,491,063 (GRCm39)	V114I	probably benign	Het
Impa2	C	A	18: 67,439,797 (GRCm39)	P98Q	probably damaging	Het
Kazn	T	C	4: 141,835,957 (GRCm39)	N573D	unknown	Het
Kcna2	A	T	3: 107,011,656 (GRCm39)	D79V	probably damaging	Het
Kcna7	G	A	7: 45,056,015 (GRCm39)	R77H	probably damaging	Het
Kif13a	A	G	13: 46,956,122 (GRCm39)	Y561H	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Klra1	T	A	6: 130,352,247 (GRCm39)	Q165L	probably damaging	Het
Mat2b	T	A	11: 40,570,869 (GRCm39)	R318S	probably damaging	Het
Mgat4d	G	A	8: 84,094,837 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,641,312 (GRCm39)		probably null	Het
Nostrin	A	T	2: 69,006,057 (GRCm39)	Q247L	possibly damaging	Het
Obi1	C	T	14: 104,745,466 (GRCm39)	G70E	probably damaging	Het
Obscn	T	C	11: 58,964,443 (GRCm39)	E3033G	probably damaging	Het
Pam	C	A	1: 97,749,642 (GRCm39)	D839Y	probably damaging	Het
Pds5a	A	G	5: 65,795,157 (GRCm39)	V693A	probably damaging	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Ptar1	G	T	19: 23,671,729 (GRCm39)	R44L	probably damaging	Het
Rad51c	T	C	11: 87,288,580 (GRCm39)	H201R	probably benign	Het
Rims2	A	T	15: 39,381,265 (GRCm39)		probably null	Het
Rpl22l1	T	G	3: 28,860,985 (GRCm39)	S67A	possibly damaging	Het
Rps10	A	G	17: 27,849,454 (GRCm39)	S143P	probably damaging	Het
Rundc1	T	C	11: 101,315,967 (GRCm39)	V13A	probably benign	Het
Sephs2	C	A	7: 126,872,564 (GRCm39)	M176I	probably benign	Het
Serpina16	C	T	12: 103,641,189 (GRCm39)	V179I	probably benign	Het
Serpini2	T	A	3: 75,166,784 (GRCm39)	T158S	probably damaging	Het
Slc12a3	A	G	8: 95,072,979 (GRCm39)	R701G	probably damaging	Het
Slc1a6	A	G	10: 78,650,436 (GRCm39)	E558G	probably damaging	Het
Ssx2ip	T	C	3: 146,136,672 (GRCm39)		probably benign	Het
Tbr1	A	T	2: 61,636,346 (GRCm39)	I241F	possibly damaging	Het
Tgfa	G	C	6: 86,247,064 (GRCm39)		probably null	Het
Tlr12	T	A	4: 128,511,063 (GRCm39)	K396*	probably null	Het
Tmppe	A	G	9: 114,235,026 (GRCm39)	I442V	probably benign	Het
Tubb3	T	C	8: 124,147,607 (GRCm39)	V180A	probably damaging	Het
Vmn1r222	A	G	13: 23,416,901 (GRCm39)	V104A	probably damaging	Het
Vmn2r95	G	T	17: 18,671,708 (GRCm39)	V482L	possibly damaging	Het
Zfp184	G	T	13: 22,143,452 (GRCm39)	R386L	possibly damaging	Het
Zfp444	T	A	7: 6,192,792 (GRCm39)	V270E	probably damaging	Het
Zfp985	A	T	4: 147,667,438 (GRCm39)	Y102F	probably 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
R1624:Pigo	UTSW	4	43,024,661 (GRCm39)	missense	probably damaging	1.00
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
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'- AGCGAGCCTTGTAAATAAAAGC -3'
(R):5'- TTCTCTCTGGTCCGAATGGC -3'

Sequencing Primer
(F):5'- AGTAGCTGACCCTCCCAGTG -3'
(R):5'- TGGTCCGAATGGCAGGGG -3'

Posted On

2016-06-06