Mutagenetix > Incidental Mutation

Incidental Mutation 'R7660:Pigg'

591496

Institutional Source

Beutler Lab

Gene Symbol

Pigg

Ensembl Gene

ENSMUSG00000029263

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class G

Synonyms

Gpi7

MMRRC Submission

045735-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R7660 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108460679-108497225 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108486485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 713 (V713I)

Ref Sequence

ENSEMBL: ENSMUSP00000113818 (fasta)

Gene Model

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

AlphaFold

D3Z3Y1

Predicted Effect

probably benign
Transcript: ENSMUST00000031189
AA Change: V705I

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000031189
Gene: ENSMUSG00000029263
AA Change: V705I

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
AA Change: V580I

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112984
Gene: ENSMUSG00000029263
AA Change: V580I

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
AA Change: V713I

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000113818
Gene: ENSMUSG00000029263
AA Change: V713I

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

Validation Efficiency

100% (70/70)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427I04Rik	A	T	4: 123,754,512 (GRCm39)	H142L	possibly damaging	Het
Aadacl2fm3	A	G	3: 59,772,689 (GRCm39)	I64M	probably benign	Het
Abca13	A	G	11: 9,240,678 (GRCm39)	E847G	probably benign	Het
Abca9	T	A	11: 110,006,278 (GRCm39)	T1276S	probably benign	Het
Abcb11	C	T	2: 69,117,938 (GRCm39)		probably null	Het
Alpk1	G	C	3: 127,474,616 (GRCm39)	H462Q	probably damaging	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Atm	C	T	9: 53,356,807 (GRCm39)	V2815M	probably benign	Het
Braf	T	C	6: 39,600,575 (GRCm39)	I681V	possibly damaging	Het
Casc3	C	G	11: 98,700,699 (GRCm39)	R4G	unknown	Het
Cilk1	G	C	9: 78,074,902 (GRCm39)	V586L	probably benign	Het
Crybg1	T	C	10: 43,874,831 (GRCm39)	D759G	probably damaging	Het
Csrp2	A	G	10: 110,773,624 (GRCm39)	N103S	probably benign	Het
Faf1	A	T	4: 109,719,034 (GRCm39)	H380L	probably damaging	Het
Farp1	G	A	14: 121,514,334 (GRCm39)	A888T	probably benign	Het
Fat4	A	T	3: 39,035,309 (GRCm39)	Q2987L	probably benign	Het
Fkbp15	T	A	4: 62,232,578 (GRCm39)	T665S	probably benign	Het
Gigyf1	T	C	5: 137,519,231 (GRCm39)	S343P	probably benign	Het
Glrx3	A	G	7: 137,060,954 (GRCm39)	Y196C	probably damaging	Het
Gm3278	T	G	14: 16,080,387 (GRCm39)	L66R	probably damaging	Het
Ifi205	A	G	1: 173,855,814 (GRCm39)	V72A	probably benign	Het
Ift140	T	G	17: 25,270,798 (GRCm39)	L708R	probably damaging	Het
Ints13	A	T	6: 146,458,836 (GRCm39)	L328M	probably benign	Het
Itfg2	A	G	6: 128,401,709 (GRCm39)	I23T	probably damaging	Het
Ldha	C	T	7: 46,499,681 (GRCm39)	P100S	unknown	Het
Lmtk2	T	A	5: 144,085,158 (GRCm39)	L210H	probably damaging	Het
Lrrc4	T	A	6: 28,829,816 (GRCm39)	I600L	probably benign	Het
Map2	C	A	1: 66,453,536 (GRCm39)	P809T	probably damaging	Het
Matn2	T	A	15: 34,423,874 (GRCm39)	C577*	probably null	Het
Matn2	A	G	15: 34,403,092 (GRCm39)	K439R	probably benign	Het
Mep1a	C	T	17: 43,789,868 (GRCm39)	G494S	probably benign	Het
Mtmr4	T	C	11: 87,495,406 (GRCm39)	F488L	probably damaging	Het
Mtus1	G	T	8: 41,469,248 (GRCm39)	T8K	probably benign	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Mybpc1	T	C	10: 88,384,716 (GRCm39)	T523A	possibly damaging	Het
Ncoa3	C	T	2: 165,911,241 (GRCm39)	P1334S	probably benign	Het
Neb	T	G	2: 52,139,451 (GRCm39)	M119L		Het
Nox4	T	C	7: 87,019,230 (GRCm39)	Y408H	probably damaging	Het
Nxpe3	C	T	16: 55,664,690 (GRCm39)	R510Q	probably damaging	Het
Or4c58	T	C	2: 89,674,787 (GRCm39)	T177A	probably benign	Het
Or4f52	C	T	2: 111,061,960 (GRCm39)	M59I	probably damaging	Het
Or5p60	A	G	7: 107,724,041 (GRCm39)	V143A	probably benign	Het
Or6c214	C	A	10: 129,590,432 (GRCm39)	E296*	probably null	Het
Or7g23	T	C	9: 19,086,804 (GRCm39)	H56R	probably benign	Het
Or8k31-ps1	A	T	2: 86,356,174 (GRCm39)	S116T	possibly damaging	Het
Paip1	C	T	13: 119,587,306 (GRCm39)	T390I	possibly damaging	Het
Pax8	T	C	2: 24,326,573 (GRCm39)	Y263C	probably benign	Het
Pcdha11	T	A	18: 37,138,904 (GRCm39)	Y178N	probably benign	Het
Pcdhga11	C	T	18: 37,890,183 (GRCm39)	T397M	possibly damaging	Het
Pdlim5	G	T	3: 141,964,946 (GRCm39)	H428N	probably damaging	Het
Rgs3	A	G	4: 62,619,349 (GRCm39)	D478G	possibly damaging	Het
Scgb2b11	C	T	7: 31,909,883 (GRCm39)	E68K	probably damaging	Het
Sema4b	C	A	7: 79,869,995 (GRCm39)	Q428K	probably benign	Het
Semp2l2a	A	T	8: 13,887,995 (GRCm39)	I32K	probably benign	Het
Serpine2	T	C	1: 79,780,622 (GRCm39)	T276A	probably benign	Het
Sgo2b	G	A	8: 64,393,108 (GRCm39)	H110Y	probably benign	Het
Slc12a7	T	C	13: 73,954,208 (GRCm39)	L833S	probably benign	Het
Slc6a15	T	A	10: 103,229,241 (GRCm39)		probably null	Het
Srfbp1	G	A	18: 52,608,671 (GRCm39)	V24I	probably damaging	Het
Stpg2	A	T	3: 139,407,458 (GRCm39)	N537Y	probably damaging	Het
Svep1	A	T	4: 58,087,782 (GRCm39)	S1766T	probably benign	Het
Tiam2	T	A	17: 3,532,880 (GRCm39)	M1K	probably null	Het
Tmem245	A	T	4: 56,899,170 (GRCm39)	I661K	possibly damaging	Het
Trim5	T	C	7: 103,928,569 (GRCm39)	H124R	probably damaging	Het
Trim67	T	A	8: 125,547,024 (GRCm39)	L478Q	probably damaging	Het
Triml2	A	G	8: 43,646,357 (GRCm39)	D282G	probably damaging	Het
Txndc11	T	C	16: 10,905,793 (GRCm39)	Y579C	probably damaging	Het
Ube3c	T	A	5: 29,824,629 (GRCm39)	D551E	probably damaging	Het
Vmn1r194	T	C	13: 22,428,767 (GRCm39)	V128A	not run	Het
Vmn2r130	T	A	17: 23,296,006 (GRCm39)	D725E	probably damaging	Het
Vmn2r70	T	G	7: 85,218,130 (GRCm39)	N56T	probably damaging	Het
Wdr95	T	C	5: 149,517,945 (GRCm39)	V501A	possibly damaging	Het
Zc3h8	T	C	2: 128,772,742 (GRCm39)	T249A	probably damaging	Het
Zfp54	T	C	17: 21,654,501 (GRCm39)	C332R	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
R2022:Pigg	UTSW	5	108,460,788 (GRCm39)	start gained	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
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'- AGATGTGAATGAGATCTCAGTATGG -3'
(R):5'- ACTCAAGTACTGTAAGGCCTGG -3'

Sequencing Primer
(F):5'- GATCTCAGTATGGTAATCTTTGTGAC -3'
(R):5'- CCTGGCACGGCATTGTTAGTAC -3'

Posted On

2019-11-12