Mutagenetix > Incidental Mutations

Incidental Mutation 'R4572:Pigg'

342186

Institutional Source

Beutler Lab

Gene Symbol

Pigg

Ensembl Gene

ENSMUSG00000029263

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class G

Synonyms

Gpi7

MMRRC Submission

041796-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4572 (G1)

Quality Score

174

Status

Validated

Chromosome

Chromosomal Location

108312609-108349355 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108332885 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 379 (M379V)

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: M504V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000031189
Gene: ENSMUSG00000029263
AA Change: M504V

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: M379V

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112984
Gene: ENSMUSG00000029263
AA Change: M379V

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: M512V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000113818
Gene: ENSMUSG00000029263
AA Change: M512V

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

0.1101

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (71/71)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,216,548	I747N	probably benign	Het
Adamtsl2	A	G	2: 27,083,256	Y97C	probably damaging	Het
Alox12e	A	G	11: 70,321,181		probably benign	Het
Alpk2	A	T	18: 65,281,004	S2014T	probably damaging	Het
Ankrd36	A	T	11: 5,689,340		probably null	Het
Apobec1	T	C	6: 122,581,397	D133G	probably damaging	Het
Arfgef1	A	T	1: 10,213,141	I181N	probably damaging	Het
C130060K24Rik	A	T	6: 65,454,991	M293L	probably benign	Het
Cilp2	A	G	8: 69,882,410	V646A	probably damaging	Het
Clasrp	A	G	7: 19,584,464		probably null	Het
Cnot2	T	C	10: 116,494,846	T423A	probably benign	Het
Crtap	T	C	9: 114,384,806	D227G	probably benign	Het
Cyp17a1	A	G	19: 46,670,551	F217S	probably damaging	Het
Ddx60	A	G	8: 61,987,421	M1036V	probably damaging	Het
Dnah11	A	T	12: 118,010,125	I2818N	probably benign	Het
Dok6	T	A	18: 89,473,947	I169F	possibly damaging	Het
Duox2	T	A	2: 122,281,726	R1326S	probably benign	Het
Epha10	A	G	4: 124,902,568	T357A	unknown	Het
Ephb2	A	C	4: 136,655,940	F942C	probably damaging	Het
Fscn3	T	A	6: 28,430,635		probably null	Het
Gabrb2	A	G	11: 42,593,917	N267S	possibly damaging	Het
Gabrr3	A	T	16: 59,461,638	Y452F	probably benign	Het
Gen1	A	G	12: 11,242,418	S457P	probably damaging	Het
Gm1993	C	T	X: 25,560,356	R77H	probably damaging	Het
Gm5592	G	A	7: 41,216,159		probably benign	Het
Hmbox1	A	G	14: 64,903,233		probably null	Het
Hus1	A	T	11: 9,007,617		probably null	Het
Ino80	G	A	2: 119,402,358	R1160W	probably damaging	Het
Kalrn	A	T	16: 34,392,042	F27L	probably damaging	Het
Kri1	A	T	9: 21,280,384	F187L	probably damaging	Het
Lekr1	A	T	3: 65,783,915		noncoding transcript	Het
Mapk15	T	C	15: 75,998,750		probably benign	Het
Mrgpre	G	A	7: 143,781,104	L221F	probably damaging	Het
Mrpl50	A	T	4: 49,514,399	S91T	possibly damaging	Het
Muc4	T	C	16: 32,753,802	I1226T	probably benign	Het
Mup15	A	G	4: 61,438,217		probably null	Het
Ncapd3	A	G	9: 27,094,615	D1469G	probably damaging	Het
Nlrp9b	G	A	7: 20,026,681		probably null	Het
Npy6r	A	T	18: 44,275,917	Y135F	probably benign	Het
Olfr862	A	C	9: 19,883,979	C109G	probably benign	Het
Phf14	G	A	6: 12,006,824	R825Q	probably damaging	Het
Plppr3	T	A	10: 79,866,063	Q315L	probably benign	Het
Plxnd1	C	A	6: 115,955,756	C1921F	probably damaging	Het
Ptger4	A	C	15: 5,243,133	S2A	probably benign	Het
Rab4a	A	T	8: 123,834,060	D196V	probably benign	Het
Rbck1	G	A	2: 152,318,733	Q428*	probably null	Het
Rgs14	A	T	13: 55,380,062	N266I	probably damaging	Het
Serpina1c	A	T	12: 103,898,708		probably benign	Het
Sesn3	G	A	9: 14,321,220	R263H	probably benign	Het
Slfn1	A	T	11: 83,121,463	D135V	probably benign	Het
Spata17	T	C	1: 187,193,996	K46E	possibly damaging	Het
Srcin1	A	C	11: 97,534,934	D432E	probably damaging	Het
Stxbp5	T	C	10: 9,838,144	E217G	probably damaging	Het
Terf2ip	A	G	8: 112,012,017	D179G	probably damaging	Het
Tll1	A	G	8: 64,056,309	F556L	possibly damaging	Het
Tmed4	CTCTTTCT	CTCT	11: 6,274,461		probably null	Het
Trappc9	G	T	15: 72,937,067	Q537K	possibly damaging	Het
Trim30a	G	T	7: 104,411,188	C460*	probably null	Het
Trim35	T	C	14: 66,307,873	Y298H	probably damaging	Het
Ugt3a1	T	A	15: 9,306,393	H209Q	probably benign	Het
Ulk4	T	C	9: 121,192,764	K627R	probably damaging	Het
Wnk1	T	C	6: 119,951,911	T1319A	possibly damaging	Het
Wnt9b	G	A	11: 103,732,155	R141C	probably damaging	Het
Zfp735	A	G	11: 73,689,785	M37V	probably benign	Het
Zmym1	A	T	4: 127,050,835	N186K	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
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

Predicted Primers

PCR Primer
(F):5'- CATGTGCTGTGCAGAAAGGC -3'
(R):5'- AGGTCTTTCTCCTGCAGTCTATATG -3'

Sequencing Primer
(F):5'- AAAGGCTGAGCTGGATGTTCCTC -3'
(R):5'- GGTCTTTCAAAGCACTGCAG -3'

Posted On

2015-09-24