Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03213:Pigu'

413358

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pigu

Ensembl Gene

ENSMUSG00000038383

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class U

Synonyms

5430426F17Rik, Cdc91l1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03213

Quality Score

Status

Chromosome

Chromosomal Location

155120163-155199344 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155177291 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 103 (N103S)

Ref Sequence

ENSEMBL: ENSMUSP00000076816 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077626] [ENSMUST00000165234]

AlphaFold

Q8K358

Predicted Effect

probably damaging
Transcript: ENSMUST00000077626
AA Change: N103S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076816
Gene: ENSMUSG00000038383
AA Change: N103S

Domain	Start	End	E-Value	Type
Pfam:PIG-U	10	394	2.6e-119	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124419

Predicted Effect

probably damaging
Transcript: ENSMUST00000165234
AA Change: N103S

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

SMART Domains

Protein: ENSMUSP00000126236
Gene: ENSMUSG00000038383
AA Change: N103S

Domain	Start	End	E-Value	Type
Pfam:PIG-U	10	393	1.7e-116	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this gene is the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	A	T	2: 22,831,971 (GRCm39)	D447E	probably damaging	Het
Aldh8a1	T	C	10: 21,260,616 (GRCm39)	V175A	probably damaging	Het
Aoc1l3	A	G	6: 48,965,279 (GRCm39)	D429G	possibly damaging	Het
Arap2	T	A	5: 62,906,438 (GRCm39)	T194S	probably benign	Het
Arih2	T	C	9: 108,484,546 (GRCm39)	T422A	probably damaging	Het
Arl5b	T	A	2: 15,074,676 (GRCm39)	N52K	probably damaging	Het
Atg13	G	A	2: 91,515,512 (GRCm39)	H227Y	probably damaging	Het
Ccdc178	T	C	18: 22,253,748 (GRCm39)	T164A	possibly damaging	Het
Cep192	T	C	18: 67,998,708 (GRCm39)	V2074A	probably damaging	Het
Ces2c	T	C	8: 105,574,672 (GRCm39)	I43T	probably benign	Het
Chrm3	G	A	13: 9,928,220 (GRCm39)	T272I	probably benign	Het
Cln8	A	G	8: 14,944,845 (GRCm39)	Y53C	probably damaging	Het
Cwc27	T	A	13: 104,932,911 (GRCm39)		probably benign	Het
Cyp3a13	A	T	5: 137,892,529 (GRCm39)		probably benign	Het
Dchs1	G	T	7: 105,404,279 (GRCm39)	N2754K	probably damaging	Het
Dclk1	A	T	3: 55,387,805 (GRCm39)	K84*	probably null	Het
Ednra	T	C	8: 78,446,848 (GRCm39)	T77A	probably benign	Het
Epn2	T	C	11: 61,410,510 (GRCm39)	N553D	probably damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gm10784	T	A	13: 50,099,310 (GRCm39)		noncoding transcript	Het
Gtf2e2	T	C	8: 34,242,525 (GRCm39)	F76L	probably damaging	Het
Hnrnpll	A	T	17: 80,341,527 (GRCm39)	V504E	probably damaging	Het
Ifitm2	A	G	7: 140,535,677 (GRCm39)	V51A	possibly damaging	Het
Il16	C	T	7: 83,295,708 (GRCm39)	E456K	probably damaging	Het
Lmod2	A	T	6: 24,603,615 (GRCm39)	I197F	possibly damaging	Het
Lrrc14	T	C	15: 76,597,983 (GRCm39)	S238P	possibly damaging	Het
Map3k1	A	G	13: 111,885,426 (GRCm39)		probably benign	Het
Phf11d	C	A	14: 59,586,797 (GRCm39)	R210S	probably benign	Het
Rgsl1	A	G	1: 153,701,587 (GRCm39)	V289A	probably benign	Het
Rp1l1	T	A	14: 64,265,864 (GRCm39)	S483R	probably damaging	Het
Ryr2	A	T	13: 11,739,273 (GRCm39)		probably benign	Het
Sema3c	T	G	5: 17,899,637 (GRCm39)		probably benign	Het
Septin4	G	T	11: 87,458,184 (GRCm39)		probably null	Het
Sfmbt2	A	G	2: 10,409,385 (GRCm39)	Y110C	probably damaging	Het
Slc12a3	T	C	8: 95,061,933 (GRCm39)	V328A	possibly damaging	Het
Smarca2	G	A	19: 26,601,375 (GRCm39)	G31D	probably damaging	Het
Spmip1	G	A	6: 29,471,792 (GRCm39)	M89I	probably damaging	Het
Tenm2	T	G	11: 35,914,157 (GRCm39)	E2460A	probably benign	Het
Trim58	T	A	11: 58,541,993 (GRCm39)	W318R	probably benign	Het
Ube3a	C	T	7: 58,935,870 (GRCm39)	Q585*	probably null	Het
Vmn2r17	T	C	5: 109,582,256 (GRCm39)		probably null	Het
Zfp647	A	G	15: 76,796,177 (GRCm39)	V161A	possibly damaging	Het

Other mutations in Pigu

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02567:Pigu	APN	2	155,173,112 (GRCm39)	missense	possibly damaging	0.70
IGL02833:Pigu	APN	2	155,187,565 (GRCm39)	splice site	probably benign
R1645:Pigu	UTSW	2	155,170,598 (GRCm39)	nonsense	probably null
R2426:Pigu	UTSW	2	155,141,002 (GRCm39)	missense	probably damaging	1.00
R3816:Pigu	UTSW	2	155,141,063 (GRCm39)	missense	probably damaging	1.00
R3879:Pigu	UTSW	2	155,141,063 (GRCm39)	missense	probably damaging	1.00
R5017:Pigu	UTSW	2	155,141,128 (GRCm39)	splice site	probably null
R5215:Pigu	UTSW	2	155,177,249 (GRCm39)	intron	probably benign
R5557:Pigu	UTSW	2	155,120,549 (GRCm39)	nonsense	probably null
R6106:Pigu	UTSW	2	155,139,116 (GRCm39)	missense	possibly damaging	0.67
R6718:Pigu	UTSW	2	155,143,206 (GRCm39)	missense	possibly damaging	0.49
R7140:Pigu	UTSW	2	155,143,160 (GRCm39)	missense	possibly damaging	0.78
R7358:Pigu	UTSW	2	155,141,090 (GRCm39)	missense	probably damaging	1.00
R7467:Pigu	UTSW	2	155,141,009 (GRCm39)	missense	probably damaging	1.00
R7503:Pigu	UTSW	2	155,173,064 (GRCm39)	splice site	probably null
R7844:Pigu	UTSW	2	155,134,640 (GRCm39)	nonsense	probably null
R9181:Pigu	UTSW	2	155,141,109 (GRCm39)	missense	probably damaging	1.00
R9233:Pigu	UTSW	2	155,178,610 (GRCm39)	missense	possibly damaging	0.76
R9312:Pigu	UTSW	2	155,199,315 (GRCm39)	start codon destroyed	probably null
Z1177:Pigu	UTSW	2	155,141,068 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02