Mutagenetix > Incidental Mutation

Incidental Mutation 'R5976:Pigg'

472434

Institutional Source

Beutler Lab

Gene Symbol

Pigg

Ensembl Gene

ENSMUSG00000029263

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class G

Synonyms

Gpi7

MMRRC Submission

044158-MU

Accession Numbers

Essential gene?

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

Stock #

R5976 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108460679-108497225 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108480057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 444 (E444G)

Ref Sequence

ENSEMBL: ENSMUSP00000113818 (fasta)

Gene Model

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

AlphaFold

D3Z3Y1

Predicted Effect

probably benign
Transcript: ENSMUST00000031189

SMART Domains

Protein: ENSMUSP00000031189
Gene: ENSMUSG00000029263

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 null
Transcript: ENSMUST00000118910
AA Change: E311G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112984
Gene: ENSMUSG00000029263
AA Change: E311G

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 null
Transcript: ENSMUST00000119014
AA Change: E444G

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

SMART Domains

Protein: ENSMUSP00000113818
Gene: ENSMUSG00000029263
AA Change: E444G

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankar	T	C	1: 72,682,450 (GRCm39)	T1154A	probably benign	Het
Ankrd26	A	T	6: 118,494,855 (GRCm39)		probably null	Het
Arih2	A	T	9: 108,485,172 (GRCm39)	*54R	probably null	Het
AW146154	T	G	7: 41,129,721 (GRCm39)	K465T	probably damaging	Het
Bend3	A	G	10: 43,386,540 (GRCm39)	Y311C	probably benign	Het
Bltp2	G	A	11: 78,174,955 (GRCm39)	A1697T	probably benign	Het
Ccdc110	A	T	8: 46,396,536 (GRCm39)	Y809F	possibly damaging	Het
Ccnh	C	T	13: 85,338,982 (GRCm39)	P76L	probably damaging	Het
Chaf1a	T	A	17: 56,371,115 (GRCm39)	C667S	probably damaging	Het
Clca3a1	A	T	3: 144,452,636 (GRCm39)	Y616N	probably damaging	Het
Cldn4	A	G	5: 134,975,410 (GRCm39)	C64R	probably damaging	Het
Crybg2	TGGAGGAGGAGGAGGAGGAG	TGGAGGAGGAGGAGGAG	4: 133,801,837 (GRCm39)		probably benign	Het
Dclk2	C	A	3: 86,694,532 (GRCm39)	R752L	possibly damaging	Het
Dzank1	C	A	2: 144,343,409 (GRCm39)	G318W	probably damaging	Het
Edem1	T	A	6: 108,819,923 (GRCm39)	I236K	probably damaging	Het
Eif4e1b	T	C	13: 54,932,635 (GRCm39)	F75L	probably damaging	Het
Elmo3	A	G	8: 106,034,279 (GRCm39)	Y266C	probably damaging	Het
Enpep	A	G	3: 129,092,773 (GRCm39)	S509P	probably damaging	Het
Exoc8	A	G	8: 125,623,392 (GRCm39)	M325T	probably benign	Het
Fah	A	G	7: 84,243,949 (GRCm39)	M270T	probably benign	Het
Gabbr1	T	C	17: 37,378,754 (GRCm39)	L532P	probably damaging	Het
Gm10770	T	A	2: 150,021,320 (GRCm39)	K66*	probably null	Het
Gprc5c	A	T	11: 114,755,313 (GRCm39)	Q330L	possibly damaging	Het
Grin3a	T	A	4: 49,792,602 (GRCm39)	H377L	probably damaging	Het
Hipk3	T	C	2: 104,301,529 (GRCm39)	E221G	probably damaging	Het
Hsd17b6	T	A	10: 127,827,308 (GRCm39)	M255L	probably benign	Het
Ighv1-7	T	A	12: 114,502,379 (GRCm39)	E29D	probably benign	Het
Ing3	T	A	6: 21,971,173 (GRCm39)	S326T	probably benign	Het
Ipo7	T	C	7: 109,648,014 (GRCm39)	L632P	probably damaging	Het
Kdm6b	A	G	11: 69,294,614 (GRCm39)		probably null	Het
Kif21a	T	G	15: 90,820,015 (GRCm39)	D1583A	probably damaging	Het
Lama2	C	T	10: 27,066,672 (GRCm39)	V1070I	probably benign	Het
Lrp1	A	T	10: 127,419,770 (GRCm39)	S946R	probably damaging	Het
Lrrc37a	A	G	11: 103,389,897 (GRCm39)	S1843P	possibly damaging	Het
Ltbp1	T	C	17: 75,597,078 (GRCm39)	Y517H	probably damaging	Het
Map2k4	T	A	11: 65,600,778 (GRCm39)	N51I	probably benign	Het
Mfsd2b	G	T	12: 4,916,522 (GRCm39)	A216D	probably damaging	Het
Nbea	T	C	3: 55,761,268 (GRCm39)	T2025A	probably benign	Het
Neb	A	G	2: 52,106,928 (GRCm39)	V4162A	possibly damaging	Het
Nr3c1	A	T	18: 39,554,602 (GRCm39)	F599I	probably damaging	Het
Nsun2	T	G	13: 69,771,271 (GRCm39)		probably null	Het
Or10ab4	T	A	7: 107,655,005 (GRCm39)	M272K	possibly damaging	Het
Or8b37	G	T	9: 37,958,997 (GRCm39)	V160F	possibly damaging	Het
Otoa	T	A	7: 120,726,936 (GRCm39)	W524R	probably benign	Het
Paip1	T	A	13: 119,593,533 (GRCm39)	D182E	probably damaging	Het
Pde1a	G	A	2: 79,698,586 (GRCm39)	Q415*	probably null	Het
Pfkfb2	T	A	1: 130,635,816 (GRCm39)	K72*	probably null	Het
Plec	T	C	15: 76,073,237 (GRCm39)	Y669C	probably damaging	Het
Ptp4a3	T	C	15: 73,627,885 (GRCm39)	V94A	possibly damaging	Het
Ptprg	A	G	14: 12,211,625 (GRCm38)	E969G	probably damaging	Het
R3hcc1l	T	A	19: 42,551,789 (GRCm39)	V262E	probably benign	Het
Ranbp3l	T	G	15: 9,030,916 (GRCm39)	F65C	possibly damaging	Het
Rbm19	T	A	5: 120,278,372 (GRCm39)	S718R	probably benign	Het
Recql4	C	A	15: 76,593,624 (GRCm39)	R162L	probably benign	Het
Rest	T	C	5: 77,416,119 (GRCm39)	L111P	probably benign	Het
Rgma	T	C	7: 73,059,216 (GRCm39)	S13P	probably damaging	Het
Rogdi	T	A	16: 4,831,175 (GRCm39)	I31F	probably benign	Het
Serpinb9e	T	A	13: 33,439,112 (GRCm39)	D179E	probably benign	Het
Slc1a5	T	C	7: 16,529,807 (GRCm39)	C409R	probably damaging	Het
Slc25a38	A	G	9: 119,945,613 (GRCm39)	T38A	probably damaging	Het
Spag17	C	T	3: 100,003,107 (GRCm39)	Q1897*	probably null	Het
St7	C	A	6: 17,694,221 (GRCm39)	A4E	possibly damaging	Het
Tbcel	T	A	9: 42,350,499 (GRCm39)	I263F	possibly damaging	Het
Tmtc3	A	G	10: 100,312,534 (GRCm39)	V103A	probably benign	Het
Tnc	G	A	4: 63,936,403 (GRCm39)	P178S	probably benign	Het
Vwf	A	G	6: 125,580,426 (GRCm39)	D558G		Het
Zfp541	A	G	7: 15,810,344 (GRCm39)	K127R	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
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
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'- GGTCAAACTGCACTTGGAGG -3'
(R):5'- TCTTAAATCTGGGTGCACAATGG -3'

Sequencing Primer
(F):5'- TGCACTTGGAGGAAAACCATTC -3'
(R):5'- ACATAGGATCTTTGTAGCCCAGGC -3'

Posted On

2017-04-03