Mutagenetix > Incidental Mutation

Incidental Mutation 'R7749:Pigg'

597085

Institutional Source

Beutler Lab

Gene Symbol

Pigg

Ensembl Gene

ENSMUSG00000029263

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class G

Synonyms

Gpi7

MMRRC Submission

045805-MU

Accession Numbers

Essential gene?

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

Stock #

R7749 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108460679-108497225 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 108484162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 603 (C603G)

Ref Sequence

ENSEMBL: ENSMUSP00000113818 (fasta)

Gene Model

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

AlphaFold

D3Z3Y1

Predicted Effect

probably benign
Transcript: ENSMUST00000031189
AA Change: C595G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031189
Gene: ENSMUSG00000029263
AA Change: C595G

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: C470G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112984
Gene: ENSMUSG00000029263
AA Change: C470G

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: C603G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113818
Gene: ENSMUSG00000029263
AA Change: C603G

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (66/67)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr1a	A	T	19: 46,368,186 (GRCm39)	S254T	probably benign	Het
Adam12	G	A	7: 133,826,542 (GRCm39)	A22V	unknown	Het
Adarb2	A	G	13: 8,619,775 (GRCm39)	D87G	possibly damaging	Het
Aldh6a1	A	T	12: 84,488,855 (GRCm39)	I59N	probably benign	Het
Ankrd50	C	T	3: 38,536,870 (GRCm39)	C161Y	probably damaging	Het
Ankrd7	A	G	6: 18,879,515 (GRCm39)		probably null	Het
Anks1	T	A	17: 28,257,115 (GRCm39)	I707N	probably damaging	Het
Atoh1	A	T	6: 64,706,904 (GRCm39)	M200L	possibly damaging	Het
Bmp1	C	T	14: 70,730,284 (GRCm39)	R416H	probably damaging	Het
Caprin1	A	G	2: 103,602,099 (GRCm39)	S548P	probably benign	Het
Ccdc167	T	A	17: 29,924,247 (GRCm39)	Y63F	possibly damaging	Het
Cfap99	T	A	5: 34,465,284 (GRCm39)	D174E	probably benign	Het
Chil3	T	G	3: 106,056,161 (GRCm39)	N331T	probably benign	Het
Chmp5	T	A	4: 40,949,488 (GRCm39)	I35N	probably damaging	Het
Cpt1c	A	T	7: 44,611,689 (GRCm39)	S537T	probably benign	Het
Dctn1	A	T	6: 83,163,123 (GRCm39)		probably benign	Het
Dhx57	T	A	17: 80,546,287 (GRCm39)	M1366L	probably benign	Het
Dnah9	T	A	11: 65,802,656 (GRCm39)	Y3478F	probably damaging	Het
Efna3	A	G	3: 89,223,947 (GRCm39)	Y81H	probably damaging	Het
Eif4enif1	T	C	11: 3,192,608 (GRCm39)	V812A	probably damaging	Het
Erg	A	T	16: 95,178,216 (GRCm39)	I237N	probably benign	Het
Fem1c	G	T	18: 46,657,185 (GRCm39)	N176K	probably damaging	Het
Fgd4	T	C	16: 16,293,018 (GRCm39)	Y233C	probably benign	Het
Foxd2	G	A	4: 114,765,009 (GRCm39)	A337V	unknown	Het
Gsdma2	T	C	11: 98,548,547 (GRCm39)	L433P	unknown	Het
Hmcn2	C	A	2: 31,343,045 (GRCm39)		probably null	Het
Hnrnpul2	T	C	19: 8,797,788 (GRCm39)	V48A	probably benign	Het
Hsf1	T	A	15: 76,383,387 (GRCm39)	S396T	probably benign	Het
Htr5b	G	T	1: 121,455,487 (GRCm39)	N144K	probably damaging	Het
Igkv9-120	T	C	6: 68,027,172 (GRCm39)	S29P	probably damaging	Het
Igsf10	T	A	3: 59,236,549 (GRCm39)	N1211Y	possibly damaging	Het
Kcnh1	A	C	1: 191,959,447 (GRCm39)	I334L	probably benign	Het
Laptm4b	T	C	15: 34,276,346 (GRCm39)	I158T	probably benign	Het
Mgat4f	A	T	1: 134,318,250 (GRCm39)	M341L	probably benign	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Nav3	T	C	10: 109,539,213 (GRCm39)	T2063A	probably damaging	Het
Nceh1	T	A	3: 27,261,531 (GRCm39)	D47E	probably benign	Het
Nckap5	A	G	1: 125,952,383 (GRCm39)	S1390P	probably damaging	Het
Npepps	T	G	11: 97,158,454 (GRCm39)	I104L	probably benign	Het
Numb	A	G	12: 83,848,051 (GRCm39)	S229P	not run	Het
Opn1sw	T	A	6: 29,380,168 (GRCm39)	I83F	probably benign	Het
Or13p4	T	C	4: 118,547,425 (GRCm39)	S75G	probably damaging	Het
Or5b95	A	T	19: 12,657,576 (GRCm39)	I35F	probably benign	Het
Or5l13	G	A	2: 87,779,822 (GRCm39)	H252Y	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pkhd1l1	C	A	15: 44,391,133 (GRCm39)	H1504N	probably benign	Het
Plcd4	A	G	1: 74,604,292 (GRCm39)	N757D	possibly damaging	Het
Ppia	A	G	11: 6,369,569 (GRCm39)	T152A	probably benign	Het
Psmd8	G	A	7: 28,878,346 (GRCm39)		probably null	Het
Pxn	T	A	5: 115,686,575 (GRCm39)	Y356N	probably benign	Het
Rhoa	G	C	9: 108,213,914 (GRCm39)	C159S	probably damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rita1	C	T	5: 120,749,506 (GRCm39)	C69Y	probably benign	Het
Satb1	A	G	17: 52,074,961 (GRCm39)	S512P	possibly damaging	Het
Sectm1b	A	G	11: 120,945,768 (GRCm39)	I191T	possibly damaging	Het
Slc22a6	A	G	19: 8,599,260 (GRCm39)	K297R	possibly damaging	Het
Snrnp48	T	C	13: 38,405,263 (GRCm39)	Y287H	probably benign	Het
Sntg2	A	T	12: 30,276,910 (GRCm39)	C381S	probably benign	Het
Syngap1	T	A	17: 27,178,938 (GRCm39)	M649K	probably damaging	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Thap2	T	C	10: 115,212,289 (GRCm39)	I79V	probably damaging	Het
Thap7	T	C	16: 17,346,467 (GRCm39)	N172S	probably benign	Het
Ticrr	A	G	7: 79,328,844 (GRCm39)	Y661C	possibly damaging	Het
Ttn	T	C	2: 76,606,659 (GRCm39)	N18084D	probably damaging	Het
Usp48	A	T	4: 137,377,728 (GRCm39)	K1020M	probably damaging	Het
Vmn2r12	T	C	5: 109,233,920 (GRCm39)	N764S	probably damaging	Het
Vmn2r91	A	G	17: 18,356,540 (GRCm39)	I736V	possibly damaging	Het
Wfdc6b	T	A	2: 164,459,339 (GRCm39)	C134S	probably damaging	Het
Zcchc2	A	T	1: 105,946,003 (GRCm39)	D481V	probably damaging	Het
Zfp949	G	A	9: 88,451,923 (GRCm39)	G498R	probably damaging	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
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
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'- GCATTTCCTTCTGGCAGAATG -3'
(R):5'- GTCATGCTCACCTGGTAAGC -3'

Sequencing Primer
(F):5'- TGATGCCAGCTCAGGGTG -3'
(R):5'- ACCCCTGTCTGGTTCAAGGAC -3'

Posted On

2019-11-26