Mutagenetix > Incidental Mutations

Incidental Mutation 'R5094:Pigg'

387984

Institutional Source

Beutler Lab

Gene Symbol

Pigg

Ensembl Gene

ENSMUSG00000029263

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class G

Synonyms

Gpi7

MMRRC Submission

042683-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R5094 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108312609-108349355 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108336257 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 457 (S457G)

Ref Sequence

ENSEMBL: ENSMUSP00000112984 (fasta)

Gene Model

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

AlphaFold

D3Z3Y1

Predicted Effect

probably benign
Transcript: ENSMUST00000031189
AA Change: S582G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000031189
Gene: ENSMUSG00000029263
AA Change: S582G

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

possibly damaging
Transcript: ENSMUST00000118910
AA Change: S457G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112984
Gene: ENSMUSG00000029263
AA Change: S457G

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: S590G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113818
Gene: ENSMUSG00000029263
AA Change: S590G

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

0.0723

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

Validation Efficiency

91% (40/44)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	G	T	15: 82,062,682	G260V	possibly damaging	Het
Agap3	T	C	5: 24,451,321		probably benign	Het
Bicra	A	G	7: 15,975,371	S1173P	probably damaging	Het
C3	A	T	17: 57,225,033		probably null	Het
Cdh18	G	A	15: 22,714,539		probably benign	Het
Cep290	A	G	10: 100,567,030	K2274E	probably damaging	Het
Cfap54	T	C	10: 92,898,999		probably benign	Het
Chat	T	A	14: 32,408,939	I582F	probably damaging	Het
Chrnb4	T	C	9: 55,035,313	I226V	probably benign	Het
Dnajc2	T	C	5: 21,776,732	T139A	probably damaging	Het
Eml1	T	C	12: 108,536,311	F712S	probably benign	Het
Fgfr1	C	T	8: 25,570,165	S524L	probably damaging	Het
Gimap3	T	C	6: 48,765,372	E208G	probably damaging	Het
Gm12185	T	A	11: 48,907,548	D706V	probably benign	Het
Gucy1a2	T	A	9: 3,865,443	V639D	probably damaging	Het
Hivep2	T	C	10: 14,132,149	F1497S	probably benign	Het
Hunk	A	G	16: 90,496,666	D612G	probably benign	Het
Ifit3b	T	A	19: 34,612,548	S375T	possibly damaging	Het
Mucl1	A	G	15: 103,755,403	S13P	possibly damaging	Het
Olfr1051	T	A	2: 86,276,040	Y149F	probably damaging	Het
Olfr1135	C	T	2: 87,671,830	C179Y	possibly damaging	Het
Pah	T	A	10: 87,538,219	Y78*	probably null	Het
Pex13	A	G	11: 23,655,441	V263A	probably benign	Het
Pfdn2	T	A	1: 171,356,499		probably benign	Het
Phip	C	T	9: 82,871,844	V1616I	probably benign	Het
Ppp1r13b	A	G	12: 111,843,610	S97P	probably benign	Het
Slc22a6	T	C	19: 8,626,177	L535P	probably damaging	Het
Slc5a1	A	G	5: 33,158,280	T548A	probably damaging	Het
Smtnl2	T	A	11: 72,400,385	S346C	probably damaging	Het
Spata31d1a	A	G	13: 59,705,044		probably null	Het
Tlcd2	T	C	11: 75,469,814	S228P	probably benign	Het
Tmem135	A	G	7: 89,143,793	L411P	probably damaging	Het
Tnrc6c	T	C	11: 117,721,046	V170A	probably benign	Het

Other mutations in Pigg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00987:Pigg	APN	5	108342078	missense	probably damaging	1.00
IGL01308:Pigg	APN	5	108336477	missense	probably damaging	1.00
IGL01485:Pigg	APN	5	108336201	missense	possibly damaging	0.90
IGL02043:Pigg	APN	5	108344324	missense	probably damaging	1.00
IGL02104:Pigg	APN	5	108342097	missense	probably damaging	1.00
IGL02238:Pigg	APN	5	108318928	missense	possibly damaging	0.64
IGL02311:Pigg	APN	5	108336380	missense	probably benign
IGL02608:Pigg	APN	5	108313003	missense	probably damaging	0.98
IGL03338:Pigg	APN	5	108319950	missense	probably damaging	1.00
P0033:Pigg	UTSW	5	108342078	missense	probably damaging	1.00
R0082:Pigg	UTSW	5	108312885	start gained	probably benign
R0449:Pigg	UTSW	5	108336411	missense	probably benign	0.00
R0616:Pigg	UTSW	5	108314085	missense	probably damaging	1.00
R1246:Pigg	UTSW	5	108341820	missense	probably damaging	0.99
R1368:Pigg	UTSW	5	108317288	missense	probably damaging	1.00
R1777:Pigg	UTSW	5	108317391	missense	probably damaging	1.00
R1898:Pigg	UTSW	5	108336542	missense	probably benign
R2022:Pigg	UTSW	5	108312922	start gained	probably benign
R2037:Pigg	UTSW	5	108338652	missense	probably damaging	1.00
R2157:Pigg	UTSW	5	108318889	missense	probably damaging	1.00
R2181:Pigg	UTSW	5	108336500	missense	probably damaging	0.96
R2291:Pigg	UTSW	5	108332917	missense	probably damaging	0.97
R3157:Pigg	UTSW	5	108314148	missense	probably damaging	1.00
R4117:Pigg	UTSW	5	108348042	missense	probably benign	0.15
R4572:Pigg	UTSW	5	108332885	missense	probably benign	0.27
R4589:Pigg	UTSW	5	108332690	missense	probably benign
R5019:Pigg	UTSW	5	108332149	missense	probably damaging	1.00
R5329:Pigg	UTSW	5	108314160	missense	probably damaging	0.99
R5960:Pigg	UTSW	5	108336294	missense	probably benign	0.01
R5976:Pigg	UTSW	5	108332191	missense	probably null	1.00
R6089:Pigg	UTSW	5	108341922	missense	probably benign
R6797:Pigg	UTSW	5	108332828	missense	probably damaging	0.99
R6960:Pigg	UTSW	5	108326841	missense	probably damaging	0.98
R7090:Pigg	UTSW	5	108336512	missense	possibly damaging	0.92
R7659:Pigg	UTSW	5	108338619	missense	probably benign	0.03
R7660:Pigg	UTSW	5	108338619	missense	probably benign	0.03
R7661:Pigg	UTSW	5	108338619	missense	probably benign	0.03
R7732:Pigg	UTSW	5	108318975	missense	probably benign	0.00
R7749:Pigg	UTSW	5	108336296	missense	probably benign
R7765:Pigg	UTSW	5	108314054	missense	probably benign	0.00
R8021:Pigg	UTSW	5	108319939	missense	probably damaging	1.00
R8268:Pigg	UTSW	5	108338643	missense	probably damaging	0.99
R8320:Pigg	UTSW	5	108347851	missense	probably benign
R8545:Pigg	UTSW	5	108341860	missense	probably damaging	1.00
R8943:Pigg	UTSW	5	108336200	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACATAATGTTCACGTTATCGCTCAC -3'
(R):5'- CCAGCACTGTCCACCATTTG -3'

Sequencing Primer
(F):5'- ACGTTATCGCTCACACACTG -3'
(R):5'- CAGCTTCCTTGTGCTTCCAGAAG -3'

Posted On

2016-06-06