Mutagenetix > Incidental Mutation

Incidental Mutation 'R0135:Pigk'

21865

Institutional Source

Beutler Lab

Gene Symbol

Pigk

Ensembl Gene

ENSMUSG00000039047

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class K

Synonyms

3000001O05Rik

MMRRC Submission

038420-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.817) question?

Stock #

R0135 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

152419718-152548705 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 152450343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142966 (fasta)

Gene Model

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

AlphaFold

Q9CXY9

Predicted Effect

probably benign
Transcript: ENSMUST00000045029

SMART Domains

Protein: ENSMUSP00000045351
Gene: ENSMUSG00000039047

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

noncoding transcript
Transcript: ENSMUST00000159045

Predicted Effect

probably benign
Transcript: ENSMUST00000159899

SMART Domains

Protein: ENSMUSP00000123772
Gene: ENSMUSG00000039047

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

probably benign
Transcript: ENSMUST00000161596

SMART Domains

Protein: ENSMUSP00000123753
Gene: ENSMUSG00000039047

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 benign
Transcript: ENSMUST00000162642

SMART Domains

Protein: ENSMUSP00000123899
Gene: ENSMUSG00000039047

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162835

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: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.6%

Validation Efficiency

100% (80/80)

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
4932438H23Rik	A	G	16: 90,852,515 (GRCm39)	F207S	probably damaging	Het
Abhd8	T	A	8: 71,910,718 (GRCm39)	K363N	probably benign	Het
Adam11	T	A	11: 102,667,399 (GRCm39)	V653E	probably damaging	Het
Adam18	T	C	8: 25,155,558 (GRCm39)	S154G	possibly damaging	Het
Adamts1	T	C	16: 85,595,591 (GRCm39)		probably benign	Het
Afm	G	T	5: 90,698,181 (GRCm39)	V528L	probably benign	Het
Alox12b	C	T	11: 69,053,574 (GRCm39)	H145Y	probably benign	Het
Ankmy2	C	A	12: 36,220,434 (GRCm39)		probably benign	Het
Aox3	G	A	1: 58,164,247 (GRCm39)		probably benign	Het
Arhgap28	T	C	17: 68,171,583 (GRCm39)	D396G	probably damaging	Het
B430203G13Rik	T	C	12: 17,974,489 (GRCm39)		noncoding transcript	Het
Bean1	C	T	8: 104,943,807 (GRCm39)	P121S	probably damaging	Het
Bok	T	C	1: 93,614,229 (GRCm39)	S21P	probably damaging	Het
Brwd1	A	C	16: 95,848,304 (GRCm39)	N572K	probably damaging	Het
C5ar1	A	T	7: 15,982,864 (GRCm39)	V52E	probably damaging	Het
Cblif	G	T	19: 11,735,118 (GRCm39)	C246F	probably damaging	Het
Cdr2l	C	A	11: 115,284,497 (GRCm39)	P278T	probably damaging	Het
Cnga4	T	A	7: 105,056,055 (GRCm39)	I219N	probably damaging	Het
Cpne2	C	T	8: 95,281,553 (GRCm39)		probably benign	Het
D430041D05Rik	A	G	2: 104,085,379 (GRCm39)	S1057P	possibly damaging	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Dgcr2	A	G	16: 17,676,306 (GRCm39)	S152P	probably damaging	Het
Dstyk	A	T	1: 132,390,672 (GRCm39)	D828V	probably damaging	Het
Eml2	T	C	7: 18,937,877 (GRCm39)	S582P	probably damaging	Het
Engase	T	C	11: 118,375,304 (GRCm39)	Y359H	possibly damaging	Het
Fat3	T	C	9: 15,918,073 (GRCm39)	D1450G	probably damaging	Het
Fbxw8	A	T	5: 118,208,552 (GRCm39)	I467N	probably damaging	Het
Fhdc1	A	T	3: 84,352,925 (GRCm39)	Y767N	probably damaging	Het
Flii	T	C	11: 60,614,204 (GRCm39)	D105G	probably damaging	Het
Gaa	C	T	11: 119,169,716 (GRCm39)	T590I	probably benign	Het
Gabrr1	T	A	4: 33,160,224 (GRCm39)	S303T	probably damaging	Het
Garre1	T	C	7: 33,945,382 (GRCm39)	I499M	probably damaging	Het
Glp1r	A	G	17: 31,143,551 (GRCm39)	I196V	probably benign	Het
Grm6	G	A	11: 50,744,050 (GRCm39)	E174K	probably damaging	Het
Helz2	A	C	2: 180,874,062 (GRCm39)	L2144R	probably damaging	Het
Itpr1	A	T	6: 108,465,443 (GRCm39)		probably benign	Het
Kcns1	A	T	2: 164,006,875 (GRCm39)	S363T	possibly damaging	Het
Kif13a	A	T	13: 46,947,419 (GRCm39)	V855E	probably damaging	Het
Krt42	T	C	11: 100,153,985 (GRCm39)	T424A	possibly damaging	Het
Lct	A	T	1: 128,212,860 (GRCm39)	F1931Y	probably damaging	Het
Lrp1b	A	T	2: 41,159,251 (GRCm39)	V1563E	probably damaging	Het
Lrrc37	C	A	11: 103,508,873 (GRCm39)		probably benign	Het
Lzts2	T	C	19: 45,014,626 (GRCm39)		probably benign	Het
Mamdc4	C	T	2: 25,456,932 (GRCm39)	R615Q	possibly damaging	Het
Mei1	C	T	15: 81,956,170 (GRCm39)	Q133*	probably null	Het
Mif4gd	T	C	11: 115,499,291 (GRCm39)	E197G	probably damaging	Het
Ncdn	A	T	4: 126,640,462 (GRCm39)	S544T	probably benign	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Or52a5	T	A	7: 103,426,970 (GRCm39)	D194V	probably damaging	Het
Padi6	T	C	4: 140,464,663 (GRCm39)	T114A	probably benign	Het
Pkd1	T	A	17: 24,784,045 (GRCm39)	F197Y	possibly damaging	Het
Pld5	A	T	1: 175,798,155 (GRCm39)	F415I	probably damaging	Het
Pnpla5	A	G	15: 83,998,150 (GRCm39)	L364P	probably damaging	Het
Prrc2c	G	A	1: 162,543,052 (GRCm39)		probably benign	Het
Rab32	C	T	10: 10,426,584 (GRCm39)	D121N	probably damaging	Het
Rab44	A	T	17: 29,357,106 (GRCm39)	T79S	probably benign	Het
Reln	G	T	5: 22,333,647 (GRCm39)	N258K	probably damaging	Het
Retsat	A	G	6: 72,579,755 (GRCm39)	T177A	probably damaging	Het
Serpinf2	T	A	11: 75,327,219 (GRCm39)	H236L	probably damaging	Het
Slc26a6	A	T	9: 108,737,794 (GRCm39)		probably benign	Het
Slitrk1	T	A	14: 109,149,061 (GRCm39)	E550V	probably benign	Het
Smarcd3	A	T	5: 24,800,497 (GRCm39)		probably benign	Het
Spdye4a	A	C	5: 143,210,857 (GRCm39)		probably null	Het
Susd2	C	T	10: 75,474,348 (GRCm39)	G572D	probably damaging	Het
Tcaf3	C	T	6: 42,566,692 (GRCm39)	R799K	probably benign	Het
Tg	A	G	15: 66,566,719 (GRCm39)	S1256G	probably benign	Het
Them4	A	T	3: 94,230,877 (GRCm39)		probably benign	Het
Tmem210	C	T	2: 25,178,480 (GRCm39)	A47V	probably damaging	Het
Tnfrsf1b	A	G	4: 144,955,616 (GRCm39)	Y47H	probably benign	Het
Tnik	T	G	3: 28,661,394 (GRCm39)	N598K	possibly damaging	Het
Ttc3	A	G	16: 94,263,127 (GRCm39)	N1498D	possibly damaging	Het
Ttll4	C	A	1: 74,719,087 (GRCm39)	H313N	possibly damaging	Het
Vipr2	A	G	12: 116,106,447 (GRCm39)	I348V	probably benign	Het
Vps13a	A	G	19: 16,758,129 (GRCm39)	V2A	probably damaging	Het
Vps72	G	A	3: 95,026,508 (GRCm39)	R151K	probably damaging	Het
Zfp106	A	G	2: 120,350,968 (GRCm39)	V1561A	probably damaging	Het
Zfp658	C	A	7: 43,223,019 (GRCm39)	Y431*	probably null	Het
Zkscan2	T	C	7: 123,079,864 (GRCm39)	K698E	possibly damaging	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
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
R2010:Pigk	UTSW	3	152,472,151 (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'- TCCATGTACGAGCGGTTCTACTCTC -3'
(R):5'- CAAGTGCCTCAGAACAGAAGGTGAC -3'

Sequencing Primer
(F):5'- AACATCATGGCCTTGGCTAGTAG -3'
(R):5'- cacacacacacacacacac -3'

Posted On

2013-04-12