Mutagenetix > Incidental Mutation

Incidental Mutation 'R1246:Pigg'

152151

Institutional Source

Beutler Lab

Gene Symbol

Pigg

Ensembl Gene

ENSMUSG00000029263

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class G

Synonyms

Gpi7

MMRRC Submission

039313-MU

Accession Numbers

Essential gene?

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

Stock #

R1246 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108460679-108497225 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108489686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 631 (Y631H)

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: Y756H

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000031189
Gene: ENSMUSG00000029263
AA Change: Y756H

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 damaging
Transcript: ENSMUST00000118910
AA Change: Y631H

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

SMART Domains

Protein: ENSMUSP00000112984
Gene: ENSMUSG00000029263
AA Change: Y631H

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: Y764H

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113818
Gene: ENSMUSG00000029263
AA Change: Y764H

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

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: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029F12Rik	T	C	13: 97,166,803 (GRCm39)	D71G	unknown	Het
Gm11563	T	C	11: 99,549,674 (GRCm39)	T27A	unknown	Het
Gm7361	G	T	5: 26,466,225 (GRCm39)	E196*	probably null	Het
Ltbp1	T	A	17: 75,692,156 (GRCm39)	Y1273*	probably null	Het
Nol8	T	A	13: 49,830,245 (GRCm39)	W1110R	probably damaging	Het
Or52b4	T	A	7: 102,184,149 (GRCm39)	L65H	probably damaging	Het
Or56b2	C	A	7: 104,337,371 (GRCm39)	L50I	possibly damaging	Het
Or8b1	T	C	9: 38,400,086 (GRCm39)	S254P	probably damaging	Het
Pde4d	T	A	13: 110,087,507 (GRCm39)	W625R	probably damaging	Het
Pik3cd	A	G	4: 149,744,257 (GRCm39)	Y165H	probably damaging	Het
Rap1gap	A	G	4: 137,439,405 (GRCm39)	E114G	possibly damaging	Het
Tubb2b	G	A	13: 34,312,130 (GRCm39)	T221I	possibly damaging	Het
Ythdf2	G	A	4: 131,932,182 (GRCm39)	T326M	probably benign	Het
Zzef1	A	G	11: 72,765,735 (GRCm39)	I1421V	probably benign	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
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
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'- ACTGTGCATTCCAGCACATGCC -3'
(R):5'- TGGTCTCAAGAGCAAAGCTGCC -3'

Sequencing Primer
(F):5'- TGTGTCAAAGCAGACATGCC -3'
(R):5'- TGCCAGAAGAACTAATCCACTATG -3'

Posted On

2014-01-29