Mutagenetix > Incidental Mutation

Incidental Mutation 'R7876:Pigo'

608421

Institutional Source

Beutler Lab

Gene Symbol

Pigo

Ensembl Gene

ENSMUSG00000028454

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class O

Synonyms

MMRRC Submission

045928-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7876 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43017635-43025819 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43020671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 757 (M757K)

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: M749K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000069749
Gene: ENSMUSG00000028454
AA Change: M749K

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: M757K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000095713
Gene: ENSMUSG00000028454
AA Change: M757K

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

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
Acvr2a	A	G	2: 48,760,439 (GRCm39)	K65R	probably benign	Het
Adprhl1	T	C	8: 13,273,509 (GRCm39)	D1083G	probably benign	Het
Aox1	C	T	1: 58,101,330 (GRCm39)	Q434*	probably null	Het
Atp13a5	T	A	16: 29,140,566 (GRCm39)	N330I	possibly damaging	Het
Brd8	A	G	18: 34,739,740 (GRCm39)	F678L	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
C87436	T	A	6: 86,423,411 (GRCm39)		probably null	Het
Cacna1h	A	T	17: 25,594,225 (GRCm39)	I2311K	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cux1	T	C	5: 136,392,161 (GRCm39)	T187A	probably benign	Het
Dip2b	A	G	15: 100,088,922 (GRCm39)	I1031V	probably benign	Het
Efna5	T	C	17: 62,957,929 (GRCm39)	N109S	possibly damaging	Het
Fat2	A	T	11: 55,202,046 (GRCm39)	S343T	probably benign	Het
Fubp1	T	C	3: 151,937,928 (GRCm39)	Y654H	unknown	Het
Gbe1	G	A	16: 70,238,059 (GRCm39)	V282I	probably benign	Het
Grik1	T	C	16: 87,720,121 (GRCm39)	K719E		Het
Grm6	A	T	11: 50,750,457 (GRCm39)	Y540F	probably damaging	Het
Hmcn1	C	T	1: 150,620,722 (GRCm39)	V1163I	probably benign	Het
Igkv4-53	T	A	6: 69,625,987 (GRCm39)	Q60L	possibly damaging	Het
Igkv4-59	A	T	6: 69,415,337 (GRCm39)	S73T	probably damaging	Het
Il1a	A	C	2: 129,142,762 (GRCm39)	W228G	probably damaging	Het
Klk13	A	G	7: 43,370,403 (GRCm39)	D22G	probably benign	Het
Kntc1	T	A	5: 123,913,850 (GRCm39)	C602S	probably damaging	Het
Kras	T	C	6: 145,170,848 (GRCm39)	K176E	probably benign	Het
Krtap5-4	G	A	7: 141,857,585 (GRCm39)	C85Y	unknown	Het
Map3k13	A	G	16: 21,741,069 (GRCm39)	T799A	probably benign	Het
Mfhas1	T	C	8: 36,056,697 (GRCm39)	Y391H	probably damaging	Het
Morf4l1	G	A	9: 89,975,859 (GRCm39)	A311V	possibly damaging	Het
Ms4a8a	T	A	19: 11,056,848 (GRCm39)	Q78L	probably damaging	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Nav3	T	C	10: 109,689,359 (GRCm39)	N306S	probably benign	Het
Ncapd3	T	C	9: 26,956,519 (GRCm39)		probably null	Het
Nrg2	T	A	18: 36,330,140 (GRCm39)	Y25F	unknown	Het
Nup153	C	T	13: 46,835,084 (GRCm39)	S1407N	probably benign	Het
Or2c1	T	A	16: 3,656,658 (GRCm39)		probably null	Het
Or4c99	A	G	2: 88,329,999 (GRCm39)	Y190C	probably damaging	Het
Or5b123	A	G	19: 13,596,628 (GRCm39)	Y34C	probably damaging	Het
Pcf11	A	C	7: 92,310,534 (GRCm39)	S485A	probably damaging	Het
Pde8a	A	G	7: 80,973,819 (GRCm39)	D592G	probably damaging	Het
Perm1	G	A	4: 156,302,046 (GRCm39)	G197R	probably damaging	Het
Pls1	G	A	9: 95,667,558 (GRCm39)	Q117*	probably null	Het
Plscr2	T	C	9: 92,169,781 (GRCm39)	V77A	probably benign	Het
Polm	T	C	11: 5,781,695 (GRCm39)	E267G	probably benign	Het
Pomgnt1	A	T	4: 116,015,106 (GRCm39)	K519M	probably damaging	Het
Ralyl	G	A	3: 14,104,850 (GRCm39)		probably null	Het
Rhbdd3	C	T	11: 5,055,832 (GRCm39)	T338I	possibly damaging	Het
Rnf31	T	C	14: 55,830,534 (GRCm39)		probably null	Het
Slc51a	A	T	16: 32,297,601 (GRCm39)	S99T	probably benign	Het
Sorbs1	A	T	19: 40,285,032 (GRCm39)	L700H	probably damaging	Het
Tdrd7	G	A	4: 46,025,684 (GRCm39)	V835I	probably benign	Het
Tmcc3	T	C	10: 94,414,397 (GRCm39)	V64A	probably benign	Het
Tmprss5	A	G	9: 49,020,391 (GRCm39)	S140G	probably benign	Het
Tspan11	G	T	6: 127,900,629 (GRCm39)	V67F	possibly damaging	Het
Usp42	T	C	5: 143,707,426 (GRCm39)	T252A	probably damaging	Het
Vmn2r97	A	T	17: 19,149,326 (GRCm39)	E238V	probably damaging	Het
Wdpcp	T	A	11: 21,661,486 (GRCm39)	W253R	probably benign	Het
Zdhhc23	A	T	16: 43,789,663 (GRCm39)	V375E	probably damaging	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	probably damaging	Het
Zmym1	A	T	4: 126,941,496 (GRCm39)	M964K	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
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
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'- GTTATGGGACCCTGAGCTTTAG -3'
(R):5'- TCGCCGCTATGGTAATCTCAAG -3'

Sequencing Primer
(F):5'- TGGAACTCCTCCTGCATGTGG -3'
(R):5'- TGGTAATCTCAAGAGTCCTGAGCC -3'

Posted On

2019-12-20