Mutagenetix > Incidental Mutation

Incidental Mutation 'R2022:Pigg'

224111

Institutional Source

Beutler Lab

Gene Symbol

Pigg

Ensembl Gene

ENSMUSG00000029263

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class G

Synonyms

Gpi7

MMRRC Submission

040031-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R2022 (G1)

Quality Score

136

Status

Not validated

Chromosome

Chromosomal Location

108460679-108497225 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

A to T at 108460788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113818 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031189] [ENSMUST00000118910] [ENSMUST00000119014]

AlphaFold

D3Z3Y1

Predicted Effect

probably benign
Transcript: ENSMUST00000031189

SMART Domains

Protein: ENSMUSP00000031189
Gene: ENSMUSG00000029263

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Phosphodiest	68	314	6.3e-15	PFAM
transmembrane domain	428	450	N/A	INTRINSIC
transmembrane domain	463	482	N/A	INTRINSIC
transmembrane domain	497	519	N/A	INTRINSIC
transmembrane domain	540	562	N/A	INTRINSIC
low complexity region	653	664	N/A	INTRINSIC
transmembrane domain	688	705	N/A	INTRINSIC
transmembrane domain	712	734	N/A	INTRINSIC
transmembrane domain	749	766	N/A	INTRINSIC
transmembrane domain	785	802	N/A	INTRINSIC
transmembrane domain	876	898	N/A	INTRINSIC
transmembrane domain	911	933	N/A	INTRINSIC
transmembrane domain	948	967	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118910

SMART Domains

Protein: ENSMUSP00000112984
Gene: ENSMUSG00000029263

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
SCOP:d1eqja2	127	202	8e-8	SMART
transmembrane domain	303	325	N/A	INTRINSIC
transmembrane domain	338	357	N/A	INTRINSIC
transmembrane domain	372	394	N/A	INTRINSIC
transmembrane domain	415	437	N/A	INTRINSIC
low complexity region	528	539	N/A	INTRINSIC
transmembrane domain	563	580	N/A	INTRINSIC
transmembrane domain	587	609	N/A	INTRINSIC
transmembrane domain	624	641	N/A	INTRINSIC
transmembrane domain	660	677	N/A	INTRINSIC
transmembrane domain	751	773	N/A	INTRINSIC
transmembrane domain	786	808	N/A	INTRINSIC
transmembrane domain	823	842	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119014

SMART Domains

Protein: ENSMUSP00000113818
Gene: ENSMUSG00000029263

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Phosphodiest	164	286	2.2e-9	PFAM
transmembrane domain	436	458	N/A	INTRINSIC
transmembrane domain	471	490	N/A	INTRINSIC
transmembrane domain	505	527	N/A	INTRINSIC
transmembrane domain	548	570	N/A	INTRINSIC
low complexity region	661	672	N/A	INTRINSIC
transmembrane domain	696	713	N/A	INTRINSIC
transmembrane domain	720	742	N/A	INTRINSIC
transmembrane domain	757	774	N/A	INTRINSIC
transmembrane domain	793	810	N/A	INTRINSIC
transmembrane domain	884	906	N/A	INTRINSIC
transmembrane domain	919	941	N/A	INTRINSIC
transmembrane domain	956	975	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199082

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	A	T	8: 44,078,954 (GRCm39)	C423*	probably null	Het
Akr1cl	T	A	1: 65,053,857 (GRCm39)	Y271F	probably benign	Het
Asnsd1	A	G	1: 53,386,386 (GRCm39)	S414P	possibly damaging	Het
Atp12a	T	A	14: 56,602,739 (GRCm39)	M1K	probably null	Het
Atp4b	A	C	8: 13,437,477 (GRCm39)	N225K	possibly damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Cactin	C	T	10: 81,158,727 (GRCm39)	T231I	possibly damaging	Het
Casp8ap2	T	C	4: 32,644,560 (GRCm39)	V1211A	probably benign	Het
Ccdc180	C	A	4: 45,944,418 (GRCm39)	H1423N	probably benign	Het
Cfap251	G	A	5: 123,411,853 (GRCm39)	G495D	probably benign	Het
Chd9	T	C	8: 91,761,682 (GRCm39)	Y2256H	probably benign	Het
Chst8	A	G	7: 34,374,589 (GRCm39)	Y417H	possibly damaging	Het
Clcn6	A	G	4: 148,095,109 (GRCm39)		probably null	Het
Clec5a	A	T	6: 40,562,128 (GRCm39)	V12E	probably damaging	Het
Crebbp	C	T	16: 3,903,683 (GRCm39)	R1852H	probably damaging	Het
Cyp2c40	T	A	19: 39,801,224 (GRCm39)		probably benign	Het
Dip2c	T	C	13: 9,601,836 (GRCm39)	L265P	probably damaging	Het
Dnah3	A	G	7: 119,550,465 (GRCm39)	Y3274H	probably damaging	Het
Dnah6	T	A	6: 73,004,405 (GRCm39)	T3853S	probably benign	Het
Dnttip2	T	C	3: 122,069,870 (GRCm39)	S362P	probably damaging	Het
Dst	G	A	1: 34,205,372 (GRCm39)	V1025I	possibly damaging	Het
Dym	T	C	18: 75,213,321 (GRCm39)	V181A	probably benign	Het
Dynlt4	A	G	4: 116,985,504 (GRCm39)	E109G	possibly damaging	Het
Elk3	T	A	10: 93,101,539 (GRCm39)	I71F	probably damaging	Het
Epb41l4a	C	T	18: 34,054,893 (GRCm39)	S65N	probably benign	Het
Erap1	T	A	13: 74,814,627 (GRCm39)	V451E	probably benign	Het
F830045P16Rik	T	A	2: 129,314,585 (GRCm39)	I231F	probably damaging	Het
Fahd1	T	C	17: 25,068,814 (GRCm39)	I88V	probably benign	Het
Fam120b	C	T	17: 15,644,638 (GRCm39)	T744I	possibly damaging	Het
Fam83f	T	G	15: 80,576,468 (GRCm39)	V373G	possibly damaging	Het
Frem1	G	T	4: 82,831,795 (GRCm39)	T1988K	probably benign	Het
Gdap1l1	A	T	2: 163,289,517 (GRCm39)	T161S	probably benign	Het
Gm6309	C	T	5: 146,105,121 (GRCm39)	G264D	probably benign	Het
Hsd11b1	T	C	1: 192,922,686 (GRCm39)	T124A	probably benign	Het
Ino80b	A	G	6: 83,101,353 (GRCm39)	M119T	probably damaging	Het
Kif3a	G	A	11: 53,461,408 (GRCm39)	V17M	probably damaging	Het
Krt40	T	A	11: 99,430,818 (GRCm39)	E285D	probably damaging	Het
Lair1	C	G	7: 4,066,063 (GRCm39)		probably null	Het
Lvrn	A	G	18: 46,999,503 (GRCm39)	T290A	possibly damaging	Het
Macf1	G	T	4: 123,366,523 (GRCm39)	A2746E	probably damaging	Het
Matn4	A	G	2: 164,242,573 (GRCm39)	V175A	probably damaging	Het
Mok	A	T	12: 110,778,257 (GRCm39)	D216E	probably benign	Het
Muc15	A	T	2: 110,561,821 (GRCm39)	T86S	probably benign	Het
Myo16	A	G	8: 10,322,633 (GRCm39)	K21R	probably benign	Het
Ncl	A	G	1: 86,284,677 (GRCm39)		probably null	Het
Nfrkb	C	T	9: 31,322,546 (GRCm39)	T872I	probably benign	Het
Nhlrc2	A	T	19: 56,585,710 (GRCm39)	E648D	probably benign	Het
Nlrp9c	A	T	7: 26,084,221 (GRCm39)	Y453N	probably damaging	Het
Notch4	T	C	17: 34,806,502 (GRCm39)	L1813P	probably damaging	Het
Nrg3	T	A	14: 38,098,309 (GRCm39)	D515V	probably damaging	Het
Nsd1	T	C	13: 55,361,092 (GRCm39)	V20A	probably damaging	Het
Opn4	T	A	14: 34,319,028 (GRCm39)	T186S	probably benign	Het
Or9k2	T	C	10: 129,999,049 (GRCm39)	M49V	probably benign	Het
Pcdh15	T	G	10: 74,467,025 (GRCm39)	S1684A	possibly damaging	Het
Phf11a	T	A	14: 59,532,363 (GRCm39)	E24V	possibly damaging	Het
Plscr2	A	G	9: 92,177,647 (GRCm39)	D136G	probably damaging	Het
Ppp3r2	T	C	4: 49,681,723 (GRCm39)	I76V	probably benign	Het
Prdm6	A	G	18: 53,598,031 (GRCm39)		probably benign	Het
Prex1	A	G	2: 166,417,534 (GRCm39)	W1188R	possibly damaging	Het
Prmt2	T	A	10: 76,061,292 (GRCm39)	R65*	probably null	Het
Prom1	G	T	5: 44,187,068 (GRCm39)	D396E	probably benign	Het
Ptcd3	C	T	6: 71,862,537 (GRCm39)	C466Y	probably damaging	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Rab36	T	C	10: 74,888,306 (GRCm39)	I250T	probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Scn11a	G	T	9: 119,640,274 (GRCm39)	A207E	possibly damaging	Het
Serpinb3d	A	G	1: 107,006,182 (GRCm39)	V302A	probably benign	Het
Slc22a16	T	C	10: 40,467,873 (GRCm39)	Y469H	probably damaging	Het
Smo	A	G	6: 29,754,715 (GRCm39)	N262D	possibly damaging	Het
Spata31e5	A	T	1: 28,817,234 (GRCm39)	V266D	probably damaging	Het
Sptan1	C	T	2: 29,897,573 (GRCm39)	A1212V	probably damaging	Het
Ssr1	C	T	13: 38,173,525 (GRCm39)	A79T	probably damaging	Het
Tiam1	T	A	16: 89,674,075 (GRCm39)	T479S	probably benign	Het
Tm9sf3	A	G	19: 41,227,231 (GRCm39)	F280S	probably damaging	Het
Tmem72	T	C	6: 116,673,800 (GRCm39)	H106R	probably damaging	Het
Tnr	A	G	1: 159,679,592 (GRCm39)	I189V	probably benign	Het
Tpbpa	T	A	13: 61,088,036 (GRCm39)	N50I	probably benign	Het
Tshz1	T	A	18: 84,031,987 (GRCm39)	Y807F	probably damaging	Het
Tspo2	C	T	17: 48,755,750 (GRCm39)	A131T	possibly damaging	Het
Usp16	T	C	16: 87,270,014 (GRCm39)	L322P	probably damaging	Het
Vmn1r185	A	G	7: 26,310,935 (GRCm39)	V190A	possibly damaging	Het
Vmn1r34	T	C	6: 66,614,385 (GRCm39)	K118E	possibly damaging	Het
Vmn1r68	A	G	7: 10,261,918 (GRCm39)	L60P	probably damaging	Het
Vmn2r-ps158	A	G	7: 42,673,454 (GRCm39)	N171D	probably benign	Het
Vps51	T	C	19: 6,121,612 (GRCm39)	E162G	probably benign	Het
Yy1	CGGG	CGGGGGG	12: 108,759,916 (GRCm39)		probably benign	Het
Zdhhc4	C	T	5: 143,307,538 (GRCm39)	R161H	probably damaging	Het
Zfp456	A	T	13: 67,514,616 (GRCm39)	C363*	probably null	Het
Zfp541	T	A	7: 15,816,110 (GRCm39)	S866T	probably damaging	Het

Other mutations in Pigg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00987:Pigg	APN	5	108,489,944 (GRCm39)	missense	probably damaging	1.00
IGL01308:Pigg	APN	5	108,484,343 (GRCm39)	missense	probably damaging	1.00
IGL01485:Pigg	APN	5	108,484,067 (GRCm39)	missense	possibly damaging	0.90
IGL02043:Pigg	APN	5	108,492,190 (GRCm39)	missense	probably damaging	1.00
IGL02104:Pigg	APN	5	108,489,963 (GRCm39)	missense	probably damaging	1.00
IGL02238:Pigg	APN	5	108,466,794 (GRCm39)	missense	possibly damaging	0.64
IGL02311:Pigg	APN	5	108,484,246 (GRCm39)	missense	probably benign
IGL02608:Pigg	APN	5	108,460,869 (GRCm39)	missense	probably damaging	0.98
IGL03338:Pigg	APN	5	108,467,816 (GRCm39)	missense	probably damaging	1.00
P0033:Pigg	UTSW	5	108,489,944 (GRCm39)	missense	probably damaging	1.00
R0082:Pigg	UTSW	5	108,460,751 (GRCm39)	start gained	probably benign
R0449:Pigg	UTSW	5	108,484,277 (GRCm39)	missense	probably benign	0.00
R0616:Pigg	UTSW	5	108,461,951 (GRCm39)	missense	probably damaging	1.00
R1246:Pigg	UTSW	5	108,489,686 (GRCm39)	missense	probably damaging	0.99
R1368:Pigg	UTSW	5	108,465,154 (GRCm39)	missense	probably damaging	1.00
R1777:Pigg	UTSW	5	108,465,257 (GRCm39)	missense	probably damaging	1.00
R1898:Pigg	UTSW	5	108,484,408 (GRCm39)	missense	probably benign
R2037:Pigg	UTSW	5	108,486,518 (GRCm39)	missense	probably damaging	1.00
R2157:Pigg	UTSW	5	108,466,755 (GRCm39)	missense	probably damaging	1.00
R2181:Pigg	UTSW	5	108,484,366 (GRCm39)	missense	probably damaging	0.96
R2291:Pigg	UTSW	5	108,480,783 (GRCm39)	missense	probably damaging	0.97
R3157:Pigg	UTSW	5	108,462,014 (GRCm39)	missense	probably damaging	1.00
R4117:Pigg	UTSW	5	108,495,908 (GRCm39)	missense	probably benign	0.15
R4572:Pigg	UTSW	5	108,480,751 (GRCm39)	missense	probably benign	0.27
R4589:Pigg	UTSW	5	108,480,556 (GRCm39)	missense	probably benign
R5019:Pigg	UTSW	5	108,480,015 (GRCm39)	missense	probably damaging	1.00
R5094:Pigg	UTSW	5	108,484,123 (GRCm39)	missense	possibly damaging	0.90
R5329:Pigg	UTSW	5	108,462,026 (GRCm39)	missense	probably damaging	0.99
R5960:Pigg	UTSW	5	108,484,160 (GRCm39)	missense	probably benign	0.01
R5976:Pigg	UTSW	5	108,480,057 (GRCm39)	missense	probably null	1.00
R6089:Pigg	UTSW	5	108,489,788 (GRCm39)	missense	probably benign
R6797:Pigg	UTSW	5	108,480,694 (GRCm39)	missense	probably damaging	0.99
R6960:Pigg	UTSW	5	108,474,707 (GRCm39)	missense	probably damaging	0.98
R7090:Pigg	UTSW	5	108,484,378 (GRCm39)	missense	possibly damaging	0.92
R7659:Pigg	UTSW	5	108,486,485 (GRCm39)	missense	probably benign	0.03
R7660:Pigg	UTSW	5	108,486,485 (GRCm39)	missense	probably benign	0.03
R7661:Pigg	UTSW	5	108,486,485 (GRCm39)	missense	probably benign	0.03
R7732:Pigg	UTSW	5	108,466,841 (GRCm39)	missense	probably benign	0.00
R7749:Pigg	UTSW	5	108,484,162 (GRCm39)	missense	probably benign
R7765:Pigg	UTSW	5	108,461,920 (GRCm39)	missense	probably benign	0.00
R8021:Pigg	UTSW	5	108,467,805 (GRCm39)	missense	probably damaging	1.00
R8268:Pigg	UTSW	5	108,486,509 (GRCm39)	missense	probably damaging	0.99
R8320:Pigg	UTSW	5	108,495,717 (GRCm39)	missense	probably benign
R8545:Pigg	UTSW	5	108,489,726 (GRCm39)	missense	probably damaging	1.00
R8943:Pigg	UTSW	5	108,484,066 (GRCm39)	missense	probably damaging	0.99
R9502:Pigg	UTSW	5	108,495,782 (GRCm39)	missense
R9720:Pigg	UTSW	5	108,467,800 (GRCm39)	nonsense	probably null
R9722:Pigg	UTSW	5	108,495,767 (GRCm39)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- AATGGATCAGCCGGGGATTC -3'
(R):5'- ATGCCTCGAAGGTGTATGATAC -3'

Sequencing Primer
(F):5'- GGACTCCCGGGAGAATCAC -3'
(R):5'- CAATACAAATTGTTTCCGTGGTGG -3'

Posted On

2014-08-25