Mutagenetix > Incidental Mutation

Incidental Mutation 'R6111:Pigo'

484830

Institutional Source

Beutler Lab

Gene Symbol

Pigo

Ensembl Gene

ENSMUSG00000028454

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class O

Synonyms

MMRRC Submission

044260-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6111 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43017635-43025819 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43019724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 935 (D935G)

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: D903G

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000069749
Gene: ENSMUSG00000028454
AA Change: D903G

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 benign
Transcript: ENSMUST00000098109
AA Change: D935G

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000095713
Gene: ENSMUSG00000028454
AA Change: D935G

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: D512G

SMART Domains

Protein: ENSMUSP00000114917
Gene: ENSMUSG00000028454
AA Change: D512G

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

98% (57/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,476,021 (GRCm39)	E1110G	possibly damaging	Het
Abcd4	G	A	12: 84,661,888 (GRCm39)	T79I	probably damaging	Het
Acd	A	G	8: 106,424,919 (GRCm39)	M407T	probably benign	Het
Adcy2	T	A	13: 68,877,360 (GRCm39)	H460L	probably damaging	Het
Atad2	G	A	15: 57,971,487 (GRCm39)	H752Y	probably benign	Het
Bmal2	T	C	6: 146,722,097 (GRCm39)	F223L	probably benign	Het
Camsap2	A	G	1: 136,209,036 (GRCm39)	S819P	probably benign	Het
Col24a1	C	A	3: 145,019,815 (GRCm39)	T62K	probably damaging	Het
Cpne6	G	A	14: 55,752,091 (GRCm39)	V283M	probably benign	Het
D630003M21Rik	A	G	2: 158,055,368 (GRCm39)	S590P	probably damaging	Het
Daam1	T	A	12: 71,989,038 (GRCm39)	M146K	unknown	Het
Dclk2	A	G	3: 86,712,968 (GRCm39)	Y495H	probably benign	Het
Ddx4	A	T	13: 112,757,766 (GRCm39)	C330*	probably null	Het
Dlec1	T	C	9: 118,931,692 (GRCm39)	L37P	possibly damaging	Het
Dock2	G	A	11: 34,599,614 (GRCm39)	P322S	probably damaging	Het
Espl1	A	G	15: 102,208,323 (GRCm39)	E443G	probably damaging	Het
Eya4	T	A	10: 23,015,953 (GRCm39)	D338V	possibly damaging	Het
Fcmr	A	G	1: 130,805,566 (GRCm39)	I267V	probably damaging	Het
Gfra3	T	A	18: 34,823,927 (GRCm39)	H349L	probably damaging	Het
Gm25747	A	G	12: 113,392,703 (GRCm39)		probably benign	Het
Gria4	G	A	9: 4,502,430 (GRCm39)	R368C	probably damaging	Het
H2-Q5	A	T	17: 35,613,885 (GRCm39)	I145F	possibly damaging	Het
Hace1	A	T	10: 45,465,606 (GRCm39)	K54I	possibly damaging	Het
Ift122	T	A	6: 115,852,247 (GRCm39)	I79N	probably damaging	Het
Ino80b	A	G	6: 83,101,347 (GRCm39)	V121A	probably damaging	Het
Kcnq1	A	G	7: 142,661,474 (GRCm39)	T63A	probably benign	Het
Map4k4	C	A	1: 40,050,822 (GRCm39)	Q762K	probably benign	Het
Mios	G	A	6: 8,214,836 (GRCm39)	A11T	probably benign	Het
Nfatc1	A	G	18: 80,741,125 (GRCm39)	S278P	probably damaging	Het
Notch2	T	C	3: 98,053,609 (GRCm39)	S2091P	probably benign	Het
Nudt19	T	A	7: 35,254,952 (GRCm39)	D93V	probably benign	Het
Or8b12b	T	C	9: 37,684,228 (GRCm39)	I91T	probably damaging	Het
Osbpl2	A	G	2: 179,791,994 (GRCm39)	T233A	probably benign	Het
P3h1	C	T	4: 119,098,329 (GRCm39)	R369*	probably null	Het
Pcdhb3	A	T	18: 37,435,242 (GRCm39)	I403L	probably benign	Het
Plpp1	A	G	13: 113,003,451 (GRCm39)	H224R	probably damaging	Het
Rai1	T	A	11: 60,078,732 (GRCm39)	M932K	probably damaging	Het
Rexo2	A	T	9: 48,384,412 (GRCm39)	F122L	probably damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Sdc3	A	G	4: 130,546,153 (GRCm39)	T77A	unknown	Het
Skint5	T	C	4: 113,562,845 (GRCm39)	T786A	unknown	Het
Smok3c	C	A	5: 138,063,365 (GRCm39)	P284Q	probably damaging	Het
Spg11	A	G	2: 121,923,963 (GRCm39)	V786A	probably damaging	Het
Tmem273	T	C	14: 32,528,755 (GRCm39)	I40T	possibly damaging	Het
Tnfrsf10b	T	A	14: 70,020,007 (GRCm39)	C380S	possibly damaging	Het
Tsen54	T	C	11: 115,710,956 (GRCm39)	V176A	possibly damaging	Het
Ttll4	A	T	1: 74,736,698 (GRCm39)	K1141M	possibly damaging	Het
Ttpa	A	T	4: 20,014,772 (GRCm39)	I116F	probably damaging	Het
Tubgcp6	T	C	15: 88,985,123 (GRCm39)	D1655G	possibly damaging	Het
Usp38	A	G	8: 81,740,551 (GRCm39)	V172A	probably damaging	Het
Vmn2r73	A	G	7: 85,520,997 (GRCm39)	S324P	probably benign	Het
Wdr72	T	C	9: 74,117,607 (GRCm39)	M773T	probably benign	Het
Xirp2	T	A	2: 67,342,161 (GRCm39)	H1467Q	possibly damaging	Het
Zdhhc8	G	T	16: 18,042,762 (GRCm39)	S479R	probably damaging	Het
Zfp423	A	G	8: 88,509,315 (GRCm39)	V322A	probably damaging	Het
Zfp87	T	G	13: 74,520,504 (GRCm39)	E191D	probably benign	Het
Zfp933	T	C	4: 147,913,217 (GRCm39)	T14A	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
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
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'- TAGGCTGCAAAGAGCTTGGG -3'
(R):5'- TACAAACTTCCGTGCTGGG -3'

Sequencing Primer
(F):5'- GGCCACGGAGCTTCAAAGATC -3'
(R):5'- GTGGATGGTCCTGGCAC -3'

Posted On

2017-08-16