Mutagenetix > Incidental Mutation

Incidental Mutation 'R7349:Pigk'

570406

Institutional Source

Beutler Lab

Gene Symbol

Pigk

Ensembl Gene

ENSMUSG00000039047

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class K

Synonyms

3000001O05Rik

MMRRC Submission

045435-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R7349 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152419718-152548705 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152453238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 319 (F319L)

Ref Sequence

ENSEMBL: ENSMUSP00000045351 (fasta)

Gene Model

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

AlphaFold

Q9CXY9

Predicted Effect

probably benign
Transcript: ENSMUST00000045029
AA Change: F319L

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000045351
Gene: ENSMUSG00000039047
AA Change: F319L

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: F272L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000123772
Gene: ENSMUSG00000039047
AA Change: F272L

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: F272L

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000123753
Gene: ENSMUSG00000039047
AA Change: F272L

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
AA Change: F272L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000123899
Gene: ENSMUSG00000039047
AA Change: F272L

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	A	13: 60,990,717 (GRCm39)	T326S	possibly damaging	Het
Acly	A	T	11: 100,412,817 (GRCm39)	H91Q	probably benign	Het
Acp3	T	A	9: 104,168,657 (GRCm39)	I403F	probably benign	Het
Angpt2	T	A	8: 18,742,090 (GRCm39)	M489L	probably damaging	Het
Arap1	T	C	7: 101,039,435 (GRCm39)	I565T	possibly damaging	Het
Atg16l2	T	C	7: 100,939,473 (GRCm39)	D563G	probably damaging	Het
Atp6v0a2	T	A	5: 124,789,392 (GRCm39)	Y386*	probably null	Het
Atp8b4	A	G	2: 126,167,265 (GRCm39)	V1078A	probably benign	Het
Bsn	T	C	9: 107,987,982 (GRCm39)	D2590G	unknown	Het
Casp12	T	C	9: 5,345,527 (GRCm39)		probably null	Het
Ccdc87	T	C	19: 4,891,868 (GRCm39)	S787P	probably damaging	Het
Cdh13	A	G	8: 119,969,097 (GRCm39)	T485A	probably damaging	Het
Cstdc5	A	G	16: 36,184,674 (GRCm39)	V23A	probably damaging	Het
Dip2a	T	C	10: 76,121,426 (GRCm39)	H810R	probably damaging	Het
Dmbt1	A	T	7: 130,642,854 (GRCm39)	Y120F	unknown	Het
Dmgdh	C	T	13: 93,888,741 (GRCm39)	T793I	possibly damaging	Het
Dnhd1	A	G	7: 105,359,330 (GRCm39)	D3555G	probably damaging	Het
Eif4e1b	T	C	13: 54,932,006 (GRCm39)	V30A	probably benign	Het
Ercc5	T	G	1: 44,220,068 (GRCm39)	D1113E	possibly damaging	Het
Fbn1	T	C	2: 125,157,321 (GRCm39)	N2321D	possibly damaging	Het
Fbrs	T	C	7: 127,081,971 (GRCm39)	L237P	probably damaging	Het
Flg2	T	A	3: 93,127,513 (GRCm39)	S2142T	unknown	Het
Ftsj3	G	A	11: 106,140,572 (GRCm39)	T761I	probably damaging	Het
Gdi2	C	A	13: 3,606,395 (GRCm39)	T157N	probably benign	Het
Gm8122	C	A	14: 43,088,058 (GRCm39)		probably null	Het
Gtpbp10	T	C	5: 5,605,379 (GRCm39)	E108G	possibly damaging	Het
Hectd4	T	C	5: 121,448,726 (GRCm39)	L358P	probably damaging	Het
Herc3	T	C	6: 58,835,971 (GRCm39)	C271R	probably benign	Het
Hspb1	C	T	5: 135,918,187 (GRCm39)	T178M	possibly damaging	Het
Htr3b	C	T	9: 48,847,319 (GRCm39)	V399M	probably benign	Het
Hydin	A	G	8: 111,124,803 (GRCm39)		probably null	Het
Itpr3	T	A	17: 27,326,786 (GRCm39)		probably null	Het
Iyd	G	T	10: 3,495,638 (GRCm39)	V99F	possibly damaging	Het
Lrrc36	G	A	8: 106,178,900 (GRCm39)	G365D	probably damaging	Het
Map1b	T	A	13: 99,570,148 (GRCm39)	I858F	unknown	Het
Med12l	A	T	3: 59,165,746 (GRCm39)	D1488V	probably damaging	Het
Ms4a6c	T	A	19: 11,455,555 (GRCm39)	N121K	probably damaging	Het
Nlrp1b	T	G	11: 71,072,943 (GRCm39)	Q300P	probably benign	Het
Nlrp3	G	A	11: 59,438,912 (GRCm39)	R163H	probably damaging	Het
Nr4a3	T	G	4: 48,051,290 (GRCm39)	S15A	possibly damaging	Het
Optc	T	G	1: 133,825,617 (GRCm39)	D356A	probably damaging	Het
Or52h7	A	G	7: 104,213,857 (GRCm39)	H143R	probably benign	Het
Or9s15	T	C	1: 92,524,904 (GRCm39)	V221A	possibly damaging	Het
Pdzd2	C	G	15: 12,399,291 (GRCm39)	V812L	probably damaging	Het
Phlpp2	T	C	8: 110,655,278 (GRCm39)	F691S	probably damaging	Het
Pkhd1l1	A	G	15: 44,378,350 (GRCm39)	T1035A	probably damaging	Het
Plekhg3	A	G	12: 76,611,339 (GRCm39)	T261A	probably benign	Het
Plekhm1	A	G	11: 103,278,160 (GRCm39)	F312S	probably damaging	Het
Pms2	T	A	5: 143,862,654 (GRCm39)	I587N	probably benign	Het
Ppl	T	A	16: 4,922,593 (GRCm39)	H272L	probably damaging	Het
Prkce	G	A	17: 86,800,783 (GRCm39)	A400T	probably benign	Het
Ptpn9	T	C	9: 56,951,660 (GRCm39)	S324P	probably benign	Het
Ptprk	A	T	10: 28,468,834 (GRCm39)	N1432I	possibly damaging	Het
R3hdm2	T	C	10: 127,328,515 (GRCm39)	S746P	probably benign	Het
Rnf220	G	A	4: 117,135,015 (GRCm39)	A412V	probably damaging	Het
Scel	G	A	14: 103,781,315 (GRCm39)	A154T	probably benign	Het
Sirpb1a	A	T	3: 15,475,664 (GRCm39)	N290K	probably damaging	Het
Sirpb1c	A	T	3: 15,886,310 (GRCm39)		probably null	Het
Sorbs2	A	T	8: 46,248,860 (GRCm39)	R704*	probably null	Het
Spast	T	C	17: 74,680,319 (GRCm39)	V427A	probably damaging	Het
Stxbp4	A	T	11: 90,482,937 (GRCm39)		probably null	Het
Thsd7a	C	A	6: 12,352,067 (GRCm39)	G1043C		Het
Tmem205	C	T	9: 21,832,410 (GRCm39)	C167Y	probably damaging	Het
Trappc9	A	T	15: 72,608,718 (GRCm39)	L897*	probably null	Het
Trim36	A	G	18: 46,302,495 (GRCm39)	F518L	probably benign	Het
Ttc12	T	G	9: 49,359,267 (GRCm39)	T402P	possibly damaging	Het
Twnk	T	C	19: 44,998,600 (GRCm39)	V506A	possibly damaging	Het
Vmn2r18	A	T	5: 151,485,682 (GRCm39)	L604*	probably null	Het
Wdr83	T	C	8: 85,806,460 (GRCm39)	N113D	possibly damaging	Het
Zfp628	G	A	7: 4,924,817 (GRCm39)	G1013E	probably 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
R7182:Pigk	UTSW	3	152,428,188 (GRCm39)	missense	possibly damaging	0.95
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'- AATGTCAGGTACCACAGTAGAAC -3'
(R):5'- TCAGCCCTTAGAACCTGCTC -3'

Sequencing Primer
(F):5'- CCGAAATGCTAGTCTTTAGAGCCAG -3'
(R):5'- AACTACGATGATACCTGCTGTC -3'

Posted On

2019-09-13