Mutagenetix > Incidental Mutation

Incidental Mutation 'R2010:Pigk'

219439

Institutional Source

Beutler Lab

Gene Symbol

Pigk

Ensembl Gene

ENSMUSG00000039047

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class K

Synonyms

3000001O05Rik

MMRRC Submission

040019-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R2010 (G1)

Quality Score

194

Status

Not validated

Chromosome

Chromosomal Location

152419718-152548705 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152472151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 354 (I354M)

Ref Sequence

ENSEMBL: ENSMUSP00000123899 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045029] [ENSMUST00000159899] [ENSMUST00000161596] [ENSMUST00000162642] [ENSMUST00000200224]

AlphaFold

Q9CXY9

Predicted Effect

probably damaging
Transcript: ENSMUST00000045029
AA Change: I401M

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

SMART Domains

Protein: ENSMUSP00000045351
Gene: ENSMUSG00000039047
AA Change: I401M

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Peptidase_C13	45	183	2.4e-25	PFAM
Pfam:Peptidase_C13	203	353	2.2e-17	PFAM
transmembrane domain	411	430	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000051510

Predicted Effect

probably benign
Transcript: ENSMUST00000159899
AA Change: I354M

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123772
Gene: ENSMUSG00000039047
AA Change: I354M

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Peptidase_C13	45	306	1.6e-47	PFAM
transmembrane domain	364	383	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160651

Predicted Effect

probably damaging
Transcript: ENSMUST00000161596
AA Change: I354M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123753
Gene: ENSMUSG00000039047
AA Change: I354M

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Peptidase_C13	45	306	5.5e-48	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000162642
AA Change: I354M

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

SMART Domains

Protein: ENSMUSP00000123899
Gene: ENSMUSG00000039047
AA Change: I354M

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Peptidase_C13	45	306	1.5e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200224

SMART Domains

Protein: ENSMUSP00000142966
Gene: ENSMUSG00000039047

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cysteine protease family C13 that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is a member of the multisubunit enzyme, GPI transamidase and is thought to be its enzymatic component. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	G	A	3: 36,535,955 (GRCm39)	G74S	unknown	Het
Aimp1	A	T	3: 132,373,253 (GRCm39)	L229Q	probably benign	Het
Arhgef6	T	C	X: 56,344,865 (GRCm39)	T52A	possibly damaging	Het
Aste1	C	A	9: 105,280,701 (GRCm39)	H25Q	probably damaging	Het
Atp13a1	G	A	8: 70,244,010 (GRCm39)	G36R	possibly damaging	Het
Bahcc1	T	C	11: 120,163,604 (GRCm39)	V634A	probably damaging	Het
Bltp1	T	G	3: 36,982,700 (GRCm39)	N788K	probably benign	Het
C1s1	A	T	6: 124,514,353 (GRCm39)	Y168N	probably damaging	Het
Camsap2	T	C	1: 136,202,606 (GRCm39)	S612G	probably damaging	Het
Cdh23	C	A	10: 60,150,006 (GRCm39)	R2611L	probably damaging	Het
Cfap20dc	A	T	14: 8,511,021 (GRCm38)	F464L	probably damaging	Het
Cilp2	A	G	8: 70,334,344 (GRCm39)	Y885H	probably damaging	Het
Dhrs3	C	T	4: 144,653,758 (GRCm39)	T227I	possibly damaging	Het
Dnah2	A	T	11: 69,349,184 (GRCm39)		probably null	Het
Dnah3	T	G	7: 119,694,400 (GRCm39)	M1L	probably benign	Het
Ehbp1l1	A	G	19: 5,769,311 (GRCm39)	I664T	probably benign	Het
Eif4e	C	T	3: 138,261,219 (GRCm39)	T171I	probably benign	Het
Elfn1	C	T	5: 139,959,071 (GRCm39)	R692W	probably damaging	Het
Eps8l3	T	A	3: 107,786,688 (GRCm39)	M1K	probably null	Het
Evi5	C	A	5: 107,961,411 (GRCm39)		probably null	Het
Fancd2	A	T	6: 113,570,252 (GRCm39)	D1401V	probably damaging	Het
Fat2	G	A	11: 55,144,653 (GRCm39)	R4074C	probably damaging	Het
Fkbp4	A	T	6: 128,412,765 (GRCm39)	V55E	probably benign	Het
Fnip1	A	G	11: 54,373,329 (GRCm39)	D180G	probably damaging	Het
Galc	A	G	12: 98,220,489 (GRCm39)	F126S	possibly damaging	Het
Gdf7	C	T	12: 8,351,729 (GRCm39)	V69M	unknown	Het
Glis2	A	G	16: 4,426,575 (GRCm39)	E22G	probably damaging	Het
H2bc3	G	A	13: 23,931,111 (GRCm39)	V112M	possibly damaging	Het
Hps4	T	A	5: 112,517,342 (GRCm39)	V243E	probably damaging	Het
Ighe	T	A	12: 113,235,108 (GRCm39)	I351F	unknown	Het
Irak4	A	T	15: 94,449,687 (GRCm39)	R55S	probably damaging	Het
Itpr2	G	A	6: 146,129,022 (GRCm39)		probably null	Het
Katnip	A	G	7: 125,472,128 (GRCm39)	I1544M	possibly damaging	Het
Kirrel3	T	C	9: 34,850,494 (GRCm39)	Y41H	probably damaging	Het
Krr1	A	G	10: 111,811,474 (GRCm39)	E56G	possibly damaging	Het
Lgi1	G	A	19: 38,289,683 (GRCm39)	V250I	probably damaging	Het
Lipf	A	G	19: 33,950,946 (GRCm39)	N306D	probably benign	Het
Lman2l	C	T	1: 36,484,262 (GRCm39)	W18*	probably null	Het
Lztfl1	T	A	9: 123,531,251 (GRCm39)	N239I	possibly damaging	Het
Mief1	T	C	15: 80,132,126 (GRCm39)	S66P	possibly damaging	Het
Mmp8	C	A	9: 7,567,535 (GRCm39)	S465*	probably null	Het
Muc2	A	T	7: 141,287,444 (GRCm39)	T208S	probably damaging	Het
Myh8	A	T	11: 67,187,990 (GRCm39)	K921*	probably null	Het
Myh9	T	C	15: 77,656,147 (GRCm39)	E1121G	probably benign	Het
Nbn	T	C	4: 15,969,393 (GRCm39)	S213P	probably damaging	Het
Nol10	A	G	12: 17,466,102 (GRCm39)	E499G	probably benign	Het
Nxn	T	C	11: 76,289,627 (GRCm39)	E87G	probably damaging	Het
Or14c40	A	G	7: 86,313,811 (GRCm39)	T314A	probably benign	Het
Or51f2	T	A	7: 102,526,892 (GRCm39)	C188*	probably null	Het
Or8g23	T	C	9: 38,971,395 (GRCm39)	H189R	probably benign	Het
Pds5b	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	5: 150,698,819 (GRCm39)		probably benign	Het
Pigl	T	A	11: 62,349,508 (GRCm39)	C75S	probably damaging	Het
Pm20d1	T	A	1: 131,739,852 (GRCm39)	I400N	probably benign	Het
Prkg2	T	A	5: 99,172,664 (GRCm39)	H17L	probably benign	Het
Psmd1	T	A	1: 86,003,719 (GRCm39)	L168Q	probably damaging	Het
Rab3gap2	A	T	1: 185,010,478 (GRCm39)	H1136L	possibly damaging	Het
Rb1	T	C	14: 73,532,433 (GRCm39)	T134A	probably benign	Het
Rims1	T	C	1: 22,367,220 (GRCm39)	E1024G	probably damaging	Het
Rrp12	A	G	19: 41,861,376 (GRCm39)	V977A	probably benign	Het
Rusc2	C	T	4: 43,415,212 (GRCm39)	P173S	probably benign	Het
Selenov	A	T	7: 27,987,447 (GRCm39)	D310E	probably damaging	Het
Serpina3f	T	A	12: 104,183,582 (GRCm39)	L148Q	probably damaging	Het
Slc10a1	C	T	12: 81,007,221 (GRCm39)	V187I	probably benign	Het
Spsb2	A	G	6: 124,787,339 (GRCm39)	K258E	probably damaging	Het
Tas2r105	A	C	6: 131,664,365 (GRCm39)	V21G	probably benign	Het
Tmem229b-ps	T	A	10: 53,351,295 (GRCm39)		noncoding transcript	Het
Tnrc6a	C	G	7: 122,770,269 (GRCm39)	H686Q	probably benign	Het
Trpc2	T	A	7: 101,743,780 (GRCm39)	F715L	probably benign	Het
Ube2t	T	A	1: 134,897,036 (GRCm39)	I56N	probably benign	Het
Ubr4	T	C	4: 139,207,963 (GRCm39)	Y4915H	possibly damaging	Het
Usp32	T	A	11: 84,930,830 (GRCm39)	E533D	probably damaging	Het
Vipr2	T	G	12: 116,086,430 (GRCm39)		probably null	Het
Vmn1r15	A	G	6: 57,235,269 (GRCm39)	T46A	probably benign	Het
Vmn1r203	T	G	13: 22,708,617 (GRCm39)	S133A	possibly damaging	Het
Vmn1r215	T	G	13: 23,260,378 (GRCm39)	N139K	probably damaging	Het
Vmn1r232	C	T	17: 21,133,601 (GRCm39)	R333H	probably benign	Het
Wdr20rt	C	A	12: 65,273,988 (GRCm39)	H311N	possibly damaging	Het
Zranb1	T	C	7: 132,568,425 (GRCm39)		probably null	Het

Other mutations in Pigk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Pigk	APN	3	152,453,269 (GRCm39)	nonsense	probably null
IGL00668:Pigk	APN	3	152,448,173 (GRCm39)	missense	possibly damaging	0.50
IGL01335:Pigk	APN	3	152,448,173 (GRCm39)	missense	probably benign	0.30
IGL01657:Pigk	APN	3	152,428,157 (GRCm39)	missense	probably damaging	1.00
IGL01813:Pigk	APN	3	152,448,156 (GRCm39)	missense	probably damaging	1.00
IGL02426:Pigk	APN	3	152,448,120 (GRCm39)	splice site	probably null
IGL02871:Pigk	APN	3	152,472,153 (GRCm39)	missense	probably damaging	1.00
IGL02963:Pigk	APN	3	152,472,098 (GRCm39)	nonsense	probably null
R0135:Pigk	UTSW	3	152,450,343 (GRCm39)	splice site	probably benign
R1750:Pigk	UTSW	3	152,450,101 (GRCm39)	missense	probably damaging	1.00
R1766:Pigk	UTSW	3	152,445,793 (GRCm39)	missense	probably damaging	1.00
R1990:Pigk	UTSW	3	152,450,131 (GRCm39)	missense	probably damaging	1.00
R1991:Pigk	UTSW	3	152,450,131 (GRCm39)	missense	probably damaging	1.00
R2864:Pigk	UTSW	3	152,428,189 (GRCm39)	missense	probably damaging	1.00
R3883:Pigk	UTSW	3	152,419,832 (GRCm39)	missense	probably benign	0.00
R4153:Pigk	UTSW	3	152,445,766 (GRCm39)	missense	probably damaging	1.00
R4730:Pigk	UTSW	3	152,448,203 (GRCm39)	nonsense	probably null
R4911:Pigk	UTSW	3	152,445,841 (GRCm39)	missense	probably damaging	1.00
R4942:Pigk	UTSW	3	152,450,154 (GRCm39)	missense	probably damaging	1.00
R5323:Pigk	UTSW	3	152,443,837 (GRCm39)	missense	probably damaging	1.00
R5655:Pigk	UTSW	3	152,445,858 (GRCm39)	missense	probably damaging	1.00
R5941:Pigk	UTSW	3	152,472,150 (GRCm39)	missense	possibly damaging	0.94
R5986:Pigk	UTSW	3	152,446,486 (GRCm39)	missense	probably benign	0.00
R6391:Pigk	UTSW	3	152,446,486 (GRCm39)	missense	probably benign
R7182:Pigk	UTSW	3	152,428,188 (GRCm39)	missense	possibly damaging	0.95
R7349:Pigk	UTSW	3	152,453,238 (GRCm39)	missense	probably benign	0.04
R7947:Pigk	UTSW	3	152,453,404 (GRCm39)	missense	probably benign	0.00
R7971:Pigk	UTSW	3	152,450,176 (GRCm39)	missense	probably benign	0.26
R8915:Pigk	UTSW	3	152,472,098 (GRCm39)	missense	probably benign	0.00
R8932:Pigk	UTSW	3	152,445,871 (GRCm39)	missense	possibly damaging	0.64
Z1177:Pigk	UTSW	3	152,472,109 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTTAGGTCCTGGCCATTGCG -3'
(R):5'- TGAGCTTCATATGGGAGTGTTCAC -3'

Sequencing Primer
(F):5'- CGCTGGGTAGTTTTTCCAAAATTGTC -3'
(R):5'- TGTTCACATAAGGGTAGAGTGC -3'

Posted On

2014-08-25