Mutagenetix > Incidental Mutation

Incidental Mutation 'R3980:Pigo'

311235

Institutional Source

Beutler Lab

Gene Symbol

Pigo

Ensembl Gene

ENSMUSG00000028454

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class O

Synonyms

MMRRC Submission

040843-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3980 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43017635-43025819 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43019231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1029 (L1029P)

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: L997P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000069749
Gene: ENSMUSG00000028454
AA Change: L997P

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: L1029P

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

SMART Domains

Protein: ENSMUSP00000095713
Gene: ENSMUSG00000028454
AA Change: L1029P

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

unknown
Transcript: ENSMUST00000149333
AA Change: L606P

SMART Domains

Protein: ENSMUSP00000114917
Gene: ENSMUSG00000028454
AA Change: L606P

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

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	G	A	15: 74,454,792 (GRCm39)	G268R	probably damaging	Het
Amacr	T	A	15: 10,989,015 (GRCm39)	Y240*	probably null	Het
Ankhd1	A	T	18: 36,780,666 (GRCm39)	H1906L	probably damaging	Het
Arhgef25	C	A	10: 127,023,089 (GRCm39)	C106F	probably damaging	Het
Bean1	A	T	8: 104,937,730 (GRCm39)	Q103L	possibly damaging	Het
Ccr9	A	T	9: 123,608,441 (GRCm39)	N41I	probably benign	Het
Ceacam16	A	G	7: 19,592,558 (GRCm39)	F117L	probably benign	Het
Col4a1	T	C	8: 11,289,155 (GRCm39)		probably benign	Het
Csk	A	G	9: 57,538,063 (GRCm39)	Y48H	probably damaging	Het
Csmd1	T	A	8: 15,956,056 (GRCm39)	K3384*	probably null	Het
Ctnnd2	T	A	15: 30,669,589 (GRCm39)	H399Q	probably benign	Het
Cutal	T	C	2: 34,772,325 (GRCm39)	Y30H	possibly damaging	Het
Cybb	T	C	X: 9,310,827 (GRCm39)	Y425C	probably damaging	Het
Dab2	A	G	15: 6,464,644 (GRCm39)		probably null	Het
Defb30	C	A	14: 63,273,421 (GRCm39)	C64F	probably damaging	Het
Eif2a	T	C	3: 58,446,960 (GRCm39)	I45T	probably benign	Het
Esyt1	T	A	10: 128,347,393 (GRCm39)	D1044V	probably damaging	Het
Gabpb2	A	T	3: 95,096,081 (GRCm39)	V382E	probably damaging	Het
Glb1	T	A	9: 114,246,132 (GRCm39)	I61K	probably damaging	Het
Insyn2b	G	A	11: 34,352,678 (GRCm39)	C240Y	probably benign	Het
Kcnt1	T	C	2: 25,783,226 (GRCm39)	V263A	possibly damaging	Het
Kdm5b	A	G	1: 134,547,408 (GRCm39)	D1019G	probably benign	Het
Klhl2	A	T	8: 65,196,109 (GRCm39)	L545M	probably damaging	Het
Klhl2	C	A	8: 65,196,115 (GRCm39)	G543C	probably damaging	Het
Krt31	G	T	11: 99,939,030 (GRCm39)	Q264K	probably damaging	Het
Lmnb1	A	G	18: 56,864,091 (GRCm39)	D232G	probably damaging	Het
Loxhd1	T	C	18: 77,501,855 (GRCm39)	F859L	probably damaging	Het
Map7	C	A	10: 20,143,099 (GRCm39)	T416K	unknown	Het
Med18	T	A	4: 132,190,251 (GRCm39)	I45F	probably benign	Het
Mn1	A	T	5: 111,569,636 (GRCm39)	H1202L	possibly damaging	Het
Mpp7	T	C	18: 7,444,062 (GRCm39)	D120G	probably benign	Het
Nlrp1b	A	T	11: 71,072,437 (GRCm39)	F469I	possibly damaging	Het
Nos3	T	A	5: 24,582,929 (GRCm39)	D685E	probably damaging	Het
Nrap	G	A	19: 56,369,984 (GRCm39)	A206V	probably benign	Het
Nuggc	T	C	14: 65,856,542 (GRCm39)		probably null	Het
Oasl1	C	T	5: 115,070,957 (GRCm39)	T274I	probably damaging	Het
Or10ak12	T	A	4: 118,666,500 (GRCm39)	Y187F	probably benign	Het
Or51a25	T	C	7: 102,372,959 (GRCm39)	N246S	probably damaging	Het
Parp3	T	C	9: 106,351,267 (GRCm39)	D278G	probably damaging	Het
Phc3	T	A	3: 30,991,080 (GRCm39)	Q346L	probably damaging	Het
Plcb3	A	G	19: 6,943,803 (GRCm39)	I66T	probably damaging	Het
Plch2	T	C	4: 155,069,255 (GRCm39)	S1019G	probably benign	Het
Plekhg6	C	A	6: 125,350,146 (GRCm39)	C264F	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pou4f2	G	T	8: 79,162,067 (GRCm39)	H179N	possibly damaging	Het
Prpf39	T	C	12: 65,108,231 (GRCm39)		probably benign	Het
Rapgef1	G	A	2: 29,609,662 (GRCm39)	V700I	probably benign	Het
Rdh14	A	G	12: 10,444,703 (GRCm39)	I185V	probably benign	Het
Rnf111	A	T	9: 70,349,607 (GRCm39)	H785Q	probably damaging	Het
Rttn	C	T	18: 89,035,399 (GRCm39)	R758W	probably benign	Het
Sik3	G	A	9: 46,113,361 (GRCm39)	V601M	probably damaging	Het
Slc22a14	T	C	9: 119,007,552 (GRCm39)	T286A	probably benign	Het
Slc36a3	G	A	11: 55,026,209 (GRCm39)	T203I	probably benign	Het
Spata31	A	T	13: 65,070,468 (GRCm39)	Q872L	probably benign	Het
Spata31d1c	A	G	13: 65,182,974 (GRCm39)	D172G	possibly damaging	Het
Sphkap	A	T	1: 83,245,215 (GRCm39)		probably null	Het
Stat6	T	C	10: 127,491,248 (GRCm39)	V463A	probably damaging	Het
Stx7	T	C	10: 24,060,947 (GRCm39)	S225P	probably damaging	Het
Sult2a7	A	T	7: 14,207,334 (GRCm39)		probably benign	Het
Tada2a	A	T	11: 83,993,946 (GRCm39)	F179L	probably benign	Het
Tas2r103	A	G	6: 133,013,280 (GRCm39)	L262P	probably benign	Het
Tfap2d	A	G	1: 19,236,187 (GRCm39)	I382V	possibly damaging	Het
Tshr	C	A	12: 91,504,517 (GRCm39)	A485D	probably damaging	Het
Vmn1r32	T	A	6: 66,530,698 (GRCm39)	Y26F	probably damaging	Het
Vmn1r5	A	G	6: 56,962,636 (GRCm39)	T104A	probably damaging	Het
Wbp1l	T	A	19: 46,642,396 (GRCm39)		probably null	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
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'- CAGGCCAGGTCTCAAATCTG -3'
(R):5'- AAAGATCCTCCCTTGATGTCAGC -3'

Sequencing Primer
(F):5'- CATTTGCCTGAACCTCCA -3'
(R):5'- CTGGCCCTTCCTGTGTGAG -3'

Posted On

2015-04-29