Mutagenetix > Incidental Mutation

Incidental Mutation 'R7182:Pigk'

559033

Institutional Source

Beutler Lab

Gene Symbol

Pigk

Ensembl Gene

ENSMUSG00000039047

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class K

Synonyms

3000001O05Rik

MMRRC Submission

045234-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R7182 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152419718-152548705 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 152428188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 72 (V72I)

Ref Sequence

ENSEMBL: ENSMUSP00000045351 (fasta)

Gene Model

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

AlphaFold

Q9CXY9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045029
AA Change: V72I

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000045351
Gene: ENSMUSG00000039047
AA Change: V72I

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

possibly damaging
Transcript: ENSMUST00000159899
AA Change: V72I

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123772
Gene: ENSMUSG00000039047
AA Change: V72I

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
AA Change: V72I

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123753
Gene: ENSMUSG00000039047
AA Change: V72I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162642
AA Change: V72I

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123899
Gene: ENSMUSG00000039047
AA Change: V72I

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 damaging
Transcript: ENSMUST00000200224
AA Change: V72I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000142966
Gene: ENSMUSG00000039047
AA Change: V72I

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

Meta Mutation Damage Score

0.1170

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (70/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,667,578 (GRCm39)	V323A	unknown	Het
AC117241.1	A	G	17: 7,620,087 (GRCm39)	V158A	unknown	Het
Acadm	A	G	3: 153,647,518 (GRCm39)		probably null	Het
Adcy10	T	G	1: 165,371,039 (GRCm39)		probably null	Het
Aldh6a1	C	T	12: 84,488,605 (GRCm39)	A94T	probably benign	Het
Ano2	T	A	6: 125,767,256 (GRCm39)	L229Q	probably damaging	Het
Cacna1h	C	T	17: 25,596,629 (GRCm39)	R1828H	probably damaging	Het
Ccdc33	A	T	9: 57,941,456 (GRCm39)		probably null	Het
Cep112	A	C	11: 108,573,670 (GRCm39)	D6A	probably benign	Het
Chd9	T	C	8: 91,733,250 (GRCm39)	F1373S	unknown	Het
Cog5	T	C	12: 31,735,707 (GRCm39)	L158P	probably damaging	Het
Col6a3	G	A	1: 90,731,400 (GRCm39)	Q1618*	probably null	Het
Dlg5	A	G	14: 24,294,924 (GRCm39)	V3A		Het
Dnah7a	T	A	1: 53,659,620 (GRCm39)		probably null	Het
Dpp10	A	T	1: 123,268,880 (GRCm39)	H716Q	probably benign	Het
Epor	A	G	9: 21,874,625 (GRCm39)	F35L	probably benign	Het
Ergic1	A	T	17: 26,873,856 (GRCm39)	Y92F		Het
Fam98a	G	A	17: 75,846,013 (GRCm39)	Q273*	probably null	Het
Fhdc1	G	A	3: 84,356,157 (GRCm39)	T429I	probably damaging	Het
Fmnl2	T	A	2: 52,997,453 (GRCm39)	L468Q	unknown	Het
Fmnl3	C	T	15: 99,219,663 (GRCm39)	R695Q	probably damaging	Het
Gabrg2	T	C	11: 41,811,333 (GRCm39)	M271V	probably damaging	Het
Garin4	C	T	1: 190,895,548 (GRCm39)	R365H	probably damaging	Het
Gk5	G	T	9: 96,001,579 (GRCm39)	V26L	possibly damaging	Het
Gm14412	A	C	2: 177,007,408 (GRCm39)	N162K	probably benign	Het
Gm3604	T	C	13: 62,519,689 (GRCm39)	D22G	probably damaging	Het
Gm5565	G	T	5: 146,094,865 (GRCm39)	H294N	probably benign	Het
Hsf2	T	A	10: 57,381,272 (GRCm39)	D287E	possibly damaging	Het
Ift70b	A	T	2: 75,768,293 (GRCm39)	Y153*	probably null	Het
Impdh2	G	A	9: 108,440,407 (GRCm39)	R231H	possibly damaging	Het
Irak3	T	C	10: 120,002,416 (GRCm39)	H234R	probably damaging	Het
Lrba	GTTCCCTTC	GTTC	3: 86,648,765 (GRCm39)		probably null	Het
Lrch3	T	A	16: 32,814,149 (GRCm39)	D551E	probably benign	Het
Manba	A	T	3: 135,273,274 (GRCm39)	N736I	probably benign	Het
Map2	A	G	1: 66,451,812 (GRCm39)	D234G	possibly damaging	Het
Mdk	C	A	2: 91,761,197 (GRCm39)	K121N	unknown	Het
Mfn1	T	A	3: 32,618,369 (GRCm39)	L526Q	probably damaging	Het
Mfsd2b	A	G	12: 4,916,157 (GRCm39)		probably null	Het
Mnat1	G	T	12: 73,277,452 (GRCm39)	E233*	probably null	Het
Mtmr4	T	C	11: 87,495,431 (GRCm39)		probably null	Het
Mtrf1	A	G	14: 79,660,904 (GRCm39)	E432G	possibly damaging	Het
Muc5b	C	T	7: 141,396,382 (GRCm39)	R165C	unknown	Het
Naip6	T	A	13: 100,452,657 (GRCm39)	I135F	probably benign	Het
Nod2	A	G	8: 89,390,460 (GRCm39)	T256A	probably benign	Het
Notch4	T	A	17: 34,802,473 (GRCm39)	V1298E	probably damaging	Het
Nudc	G	T	4: 133,261,776 (GRCm39)	D169E	possibly damaging	Het
Obscn	A	T	11: 58,925,927 (GRCm39)	I5602N	probably damaging	Het
Or5b114-ps1	G	A	19: 13,353,208 (GRCm39)	G294E	unknown	Het
Osbpl10	G	A	9: 114,896,319 (GRCm39)	D18N	probably damaging	Het
Prl8a6	C	T	13: 27,621,153 (GRCm39)	E26K	probably damaging	Het
Prpf8	A	G	11: 75,381,553 (GRCm39)	Y318C	possibly damaging	Het
Rab13	A	G	3: 90,132,070 (GRCm39)	D159G	possibly damaging	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Ryr2	T	C	13: 11,774,643 (GRCm39)	H1171R	probably benign	Het
Scn4a	T	A	11: 106,221,134 (GRCm39)	I842F	probably benign	Het
Scnm1	A	T	3: 95,041,165 (GRCm39)	N14K	possibly damaging	Het
Serinc1	A	T	10: 57,400,457 (GRCm39)	I137N	probably benign	Het
Slc30a3	T	C	5: 31,244,169 (GRCm39)	Q371R	probably benign	Het
Slc30a3	A	C	5: 31,247,014 (GRCm39)	M103R	probably damaging	Het
Slco1a1	A	T	6: 141,857,565 (GRCm39)	C589S	probably damaging	Het
Slco1b2	A	G	6: 141,602,656 (GRCm39)	Y203C	probably damaging	Het
Spty2d1	A	T	7: 46,648,271 (GRCm39)	D219E	probably benign	Het
Svep1	A	T	4: 58,043,991 (GRCm39)	S3552T	probably benign	Het
Tmem62	A	G	2: 120,835,224 (GRCm39)	I516M	probably benign	Het
Trim61	A	T	8: 65,466,266 (GRCm39)	S332T	probably damaging	Het
Trmt10b	A	C	4: 45,308,520 (GRCm39)	T227P	probably benign	Het
Trpc3	T	C	3: 36,709,258 (GRCm39)	Q406R	probably benign	Het
Ush2a	A	T	1: 188,485,740 (GRCm39)	Y2950F	probably benign	Het
Usp32	C	T	11: 84,930,996 (GRCm39)	G478D	probably benign	Het
Wdfy3	A	G	5: 102,091,758 (GRCm39)	L527P	possibly damaging	Het
Wdr73	A	G	7: 80,543,426 (GRCm39)	V163A	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
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
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
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'- AGTCTGAAATGCTTTCTTCAGGC -3'
(R):5'- AGGAGATACCCAGAGCTTACC -3'

Sequencing Primer
(F):5'- CATTTCCACATAGACTTGAAGTGCGG -3'
(R):5'- TCATGTGCACTGTGGCCCTAAG -3'

Posted On

2019-06-26