Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02104:Pigg'

279897

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pigg

Ensembl Gene

ENSMUSG00000029263

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class G

Synonyms

Gpi7

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL02104

Quality Score

Status

Chromosome

Chromosomal Location

108312609-108349355 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108342097 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 856 (Y856C)

Ref Sequence

ENSEMBL: ENSMUSP00000113818 (fasta)

Gene Model

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

AlphaFold

D3Z3Y1

Predicted Effect

probably damaging
Transcript: ENSMUST00000031189
AA Change: Y848C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031189
Gene: ENSMUSG00000029263
AA Change: Y848C

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: Y723C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112984
Gene: ENSMUSG00000029263
AA Change: Y723C

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 damaging
Transcript: ENSMUST00000119014
AA Change: Y856C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113818
Gene: ENSMUSG00000029263
AA Change: Y856C

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

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933440M02Rik	T	C	7: 125,331,542		noncoding transcript	Het
Abcb5	T	A	12: 118,940,680	Q125L	probably damaging	Het
Acap3	G	A	4: 155,905,085	R662H	probably damaging	Het
Aox4	T	A	1: 58,236,657		probably benign	Het
Aqp6	T	C	15: 99,604,278	S285P	probably benign	Het
Arhgef5	A	T	6: 43,272,411	Q32L	probably damaging	Het
B3gnt6	G	T	7: 98,194,101	D217E	probably damaging	Het
Chd6	T	C	2: 160,977,512	I1338V	probably benign	Het
Clic6	A	G	16: 92,498,479	E9G	possibly damaging	Het
Col11a1	T	A	3: 114,181,397		probably null	Het
Dcdc2b	T	A	4: 129,611,074	D88V	probably benign	Het
Dis3l	T	A	9: 64,310,329	K791N	possibly damaging	Het
Dmxl2	A	T	9: 54,404,015	Y1008*	probably null	Het
Dnah11	A	G	12: 118,192,390	V175A	probably benign	Het
Efl1	A	G	7: 82,658,055		probably null	Het
Fam117b	C	T	1: 59,949,119	T219I	probably benign	Het
Fgf21	T	A	7: 45,615,224	Q28L	probably benign	Het
Folh1	T	C	7: 86,744,430	Q391R	possibly damaging	Het
Gars	A	G	6: 55,077,697	D663G	probably damaging	Het
Lats2	A	G	14: 57,734,012	F69L	probably damaging	Het
Lrp2	C	T	2: 69,510,418	V1038M	probably damaging	Het
Map3k1	A	T	13: 111,756,243	V826E	probably damaging	Het
Mapkap1	T	A	2: 34,623,470	Y497*	probably null	Het
Mast3	T	C	8: 70,787,906	I296V	possibly damaging	Het
Mon1a	T	G	9: 107,901,615	L346R	probably damaging	Het
Mphosph8	T	C	14: 56,674,579	L353S	probably benign	Het
Muc5ac	T	C	7: 141,811,078	Y2634H	probably damaging	Het
Mylk	A	G	16: 34,815,435	T9A	probably benign	Het
Olfr1031	G	T	2: 85,992,386	D190Y	probably damaging	Het
Olfr1440	T	A	19: 12,394,899	V212D	probably damaging	Het
Olfr1484	T	A	19: 13,585,604	M57K	probably damaging	Het
Olfr418	T	C	1: 173,271,036	V287A	probably damaging	Het
Olfr543	C	A	7: 102,477,337	V178F	probably damaging	Het
Olfr761	A	C	17: 37,952,291	H244Q	probably damaging	Het
Olfr843	A	T	9: 19,248,870	H176Q	probably benign	Het
Pabpc2	A	C	18: 39,774,883	Q400H	possibly damaging	Het
Plekhn1	A	T	4: 156,222,408	V508E	probably benign	Het
Pom121l2	C	A	13: 21,982,275	H239N	possibly damaging	Het
Prdm2	A	G	4: 143,133,427	S1098P	probably benign	Het
Rnf212	A	G	5: 108,747,440	I41T	possibly damaging	Het
Rngtt	A	G	4: 33,320,517		probably null	Het
Rpn2	C	T	2: 157,321,827	T613M	probably damaging	Het
Scd4	G	T	19: 44,344,747	V304F	possibly damaging	Het
Sez6l	A	G	5: 112,426,764		probably benign	Het
Shroom3	A	G	5: 92,940,389	R158G	probably benign	Het
Stil	T	C	4: 115,041,482	L1103P	probably damaging	Het
Tanc2	T	C	11: 105,780,133		probably benign	Het
Tmc1	C	T	19: 20,832,454	D255N	probably benign	Het
Trank1	C	A	9: 111,390,712	D2172E	possibly damaging	Het
Tyro3	G	A	2: 119,813,200	R718H	probably damaging	Het
Vamp2	C	A	11: 69,090,657	F114L	probably benign	Het
Wdr66	T	A	5: 123,302,698	L1106*	probably null	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
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
R5094:Pigg	UTSW	5	108336257	missense	possibly damaging	0.90
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

Posted On

2015-04-16