Mutagenetix > Incidental Mutation

Incidental Mutation 'R9646:Pigo'

726711

Institutional Source

Beutler Lab

Gene Symbol

Pigo

Ensembl Gene

ENSMUSG00000028454

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class O

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9646 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43017635-43025819 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 43017967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 1083 (R1083L)

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: R1051L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000069749
Gene: ENSMUSG00000028454
AA Change: R1051L

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: R1083L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095713
Gene: ENSMUSG00000028454
AA Change: R1083L

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

SMART Domains

Protein: ENSMUSP00000114917
Gene: ENSMUSG00000028454
AA Change: R660L

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

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	A	T	3: 148,544,926 (GRCm39)	I723N	probably damaging	Het
Agbl1	G	A	7: 76,075,648 (GRCm39)	R682Q	unknown	Het
Ankrd42	A	T	7: 92,273,257 (GRCm39)	D123E	possibly damaging	Het
Anxa4	A	T	6: 86,730,814 (GRCm39)	I121N	probably damaging	Het
Asic1	T	C	15: 99,593,414 (GRCm39)	F257S	probably benign	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Cckar	T	C	5: 53,863,608 (GRCm39)	T118A	probably benign	Het
Cfap61	T	A	2: 145,854,152 (GRCm39)	I388N	probably damaging	Het
Chrnd	A	T	1: 87,120,311 (GRCm39)	I156F	probably damaging	Het
Col15a1	T	A	4: 47,257,187 (GRCm39)	L326Q	possibly damaging	Het
Dcpp3	A	T	17: 24,138,156 (GRCm39)	I105L	possibly damaging	Het
Dnaaf5	T	A	5: 139,151,832 (GRCm39)	H494Q	probably benign	Het
Dph5	T	A	3: 115,708,692 (GRCm39)	Y125N	probably damaging	Het
Eif4enif1	T	C	11: 3,170,280 (GRCm39)	V111A	probably damaging	Het
Etl4	T	A	2: 20,802,724 (GRCm39)	I1010K	probably benign	Het
Faf1	T	A	4: 109,652,016 (GRCm39)	W236R	probably damaging	Het
Fat4	A	G	3: 39,035,813 (GRCm39)	D3155G	probably damaging	Het
Fhip2b	T	C	14: 70,827,808 (GRCm39)	H125R	probably damaging	Het
Firrm	A	G	1: 163,822,195 (GRCm39)	V32A	probably damaging	Het
Galnt12	T	C	4: 47,120,390 (GRCm39)	I491T	probably damaging	Het
Gm10553	T	A	1: 85,077,901 (GRCm39)	L6Q	probably damaging	Het
H2-T10	A	T	17: 36,431,157 (GRCm39)	I168N	probably damaging	Het
Hdac9	T	A	12: 34,487,167 (GRCm39)	Q78L	probably damaging	Het
Hmx1	C	T	5: 35,549,400 (GRCm39)	T231M	probably damaging	Het
Hrob	A	T	11: 102,146,586 (GRCm39)	Q287H	possibly damaging	Het
Hsd17b13	T	C	5: 104,124,973 (GRCm39)	K70R	probably null	Het
Hykk	C	T	9: 54,853,521 (GRCm39)	T281I	probably benign	Het
Il1r2	A	G	1: 40,162,362 (GRCm39)	D335G	probably damaging	Het
Insig2	A	C	1: 121,240,040 (GRCm39)	L87V	probably damaging	Het
Insrr	A	T	3: 87,721,805 (GRCm39)	Y1193F	probably damaging	Het
Itpr1	A	G	6: 108,371,845 (GRCm39)	Y1173C	probably damaging	Het
Kcnh8	A	G	17: 53,104,573 (GRCm39)	N190S	probably benign	Het
Kntc1	T	C	5: 123,897,119 (GRCm39)	F161L	probably benign	Het
Lilra5	T	C	7: 4,244,907 (GRCm39)	L226P	probably damaging	Het
Muc2	C	T	7: 141,276,643 (GRCm39)	A11V	probably benign	Het
Nrp2	T	C	1: 62,777,566 (GRCm39)	F124L	probably damaging	Het
Or52e4	T	C	7: 104,706,374 (GRCm39)	I307T	probably benign	Het
Or5m11b	T	A	2: 85,806,446 (GRCm39)	N286K	probably benign	Het
Or5w15	T	A	2: 87,568,512 (GRCm39)	D52V	probably damaging	Het
Or8c19-ps1	T	A	9: 38,220,114 (GRCm39)	S8T	probably damaging	Het
Pcdhb17	A	T	18: 37,618,471 (GRCm39)	N87I	possibly damaging	Het
Pdgfrb	T	A	18: 61,211,721 (GRCm39)		probably null	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pepd	A	T	7: 34,620,882 (GRCm39)	Q49L	possibly damaging	Het
Pitpnm1	G	A	19: 4,153,269 (GRCm39)	D142N	probably damaging	Het
Plod1	C	T	4: 148,016,112 (GRCm39)	E93K	probably benign	Het
Pramel11	A	T	4: 143,623,634 (GRCm39)	V180E	probably damaging	Het
Rev3l	T	C	10: 39,698,440 (GRCm39)	I979T	probably damaging	Het
Scrib	C	T	15: 75,932,492 (GRCm39)	G743D	probably damaging	Het
Septin3	T	C	15: 82,170,088 (GRCm39)	S205P	probably benign	Het
Sez6	A	G	11: 77,867,632 (GRCm39)	K850E	probably damaging	Het
Sfxn5	T	A	6: 85,266,195 (GRCm39)	T101S	probably damaging	Het
Slc6a5	A	T	7: 49,567,496 (GRCm39)	K317*	probably null	Het
Sox8	A	T	17: 25,786,871 (GRCm39)	D277E	probably benign	Het
Sptbn2	G	T	19: 4,795,341 (GRCm39)	A1600S	probably damaging	Het
Syne1	A	G	10: 5,179,187 (GRCm39)	V4429A	possibly damaging	Het
Tnrc6b	T	A	15: 80,773,266 (GRCm39)	F1137L	possibly damaging	Het
Trim43a	A	G	9: 88,466,392 (GRCm39)	R238G	probably benign	Het
Triobp	T	C	15: 78,887,934 (GRCm39)	L1943P	probably damaging	Het
Vmn1r125	T	C	7: 21,006,261 (GRCm39)	V53A	possibly damaging	Het
Vwa5b1	T	A	4: 138,319,420 (GRCm39)	N412I	probably damaging	Het
Yipf7	T	A	5: 69,678,424 (GRCm39)	T122S	probably benign	Het
Zfp1005	C	T	2: 150,110,104 (GRCm39)	H265Y	probably benign	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
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
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'- TAAAGTCCCAGAGTTGAGCAGTC -3'
(R):5'- GGTGTTTGCTCCCAAGTAAGTG -3'

Sequencing Primer
(F):5'- CCAGAGTTGAGCAGTCTCTGGTTAC -3'
(R):5'- CCCAAGTAAGTGGTTTCCCGTG -3'

Posted On

2022-10-06