Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02567:Pigu'

298867

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 #

IGL02567

Quality Score

Status

Chromosome

Chromosomal Location

155120163-155199344 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155173112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 129 (T129A)

Ref Sequence

ENSEMBL: ENSMUSP00000076816 (fasta)

Gene Model

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

AlphaFold

Q8K358

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077626
AA Change: T129A

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000076816
Gene: ENSMUSG00000038383
AA Change: T129A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124419

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165234
AA Change: T129A

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000126236
Gene: ENSMUSG00000038383
AA Change: T129A

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	C	A	11: 53,263,578 (GRCm39)	S199R	possibly damaging	Het
Ano1	A	G	7: 144,165,362 (GRCm39)	L621P	probably damaging	Het
Calcr	C	T	6: 3,691,564 (GRCm39)	V404M	probably damaging	Het
Carmil3	A	G	14: 55,736,339 (GRCm39)	S635G	possibly damaging	Het
Ccl12	C	A	11: 81,993,447 (GRCm39)	S28R	possibly damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdhr3	T	C	12: 33,088,900 (GRCm39)	N761D	probably benign	Het
Col14a1	T	C	15: 55,208,357 (GRCm39)		probably null	Het
Col28a1	T	C	6: 8,014,819 (GRCm39)	K862R	possibly damaging	Het
Cyp2c66	C	T	19: 39,175,084 (GRCm39)		probably benign	Het
D5Ertd615e	T	C	5: 45,320,758 (GRCm39)		noncoding transcript	Het
Deup1	T	C	9: 15,486,579 (GRCm39)	E367G	probably damaging	Het
Dpp8	T	G	9: 64,986,058 (GRCm39)	Y849*	probably null	Het
Efhc1	T	A	1: 21,043,188 (GRCm39)	V369E	probably damaging	Het
Entrep2	T	A	7: 64,436,479 (GRCm39)	M101L	possibly damaging	Het
Epg5	A	G	18: 78,076,288 (GRCm39)	Y2562C	probably damaging	Het
Fbln5	A	G	12: 101,728,059 (GRCm39)		probably null	Het
Frem1	A	T	4: 82,918,292 (GRCm39)	M551K	probably damaging	Het
Gba2	T	C	4: 43,567,281 (GRCm39)	S889G	probably benign	Het
Golph3	C	T	15: 12,349,507 (GRCm39)	R176*	probably null	Het
Got2	A	T	8: 96,598,829 (GRCm39)	F191Y	probably benign	Het
Gtf2ird2	G	T	5: 134,241,890 (GRCm39)		probably benign	Het
H4c16	G	A	6: 136,781,272 (GRCm39)	R36W	probably damaging	Het
Hivep3	A	G	4: 119,991,153 (GRCm39)	T2218A	probably damaging	Het
Htr1f	C	T	16: 64,746,611 (GRCm39)	G227D	probably benign	Het
Ifi202b	C	T	1: 173,791,370 (GRCm39)	S436N	possibly damaging	Het
Nf1	T	A	11: 79,437,969 (GRCm39)	V2109D	probably damaging	Het
Opa1	C	A	16: 29,407,104 (GRCm39)	D29E	probably benign	Het
Papln	C	T	12: 83,825,611 (GRCm39)	P631S	probably benign	Het
Pde4c	T	A	8: 71,200,570 (GRCm39)	M352K	probably benign	Het
Pla2g4c	T	A	7: 13,079,965 (GRCm39)	H424Q	probably damaging	Het
Ptpn13	T	G	5: 103,710,157 (GRCm39)	L1564R	probably damaging	Het
Rbm5	T	C	9: 107,621,473 (GRCm39)	D642G	probably damaging	Het
Rnf111	T	C	9: 70,366,287 (GRCm39)	T384A	probably damaging	Het
Scn11a	T	C	9: 119,633,555 (GRCm39)	T393A	probably damaging	Het
Sned1	A	T	1: 93,202,069 (GRCm39)	K619M	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Syt9	A	G	7: 107,035,868 (GRCm39)	Y295C	probably damaging	Het
Taar7f	T	A	10: 23,926,323 (GRCm39)	Y306N	probably damaging	Het
Tmem107	T	G	11: 68,961,845 (GRCm39)	L25V	possibly damaging	Het
Wdr24	T	G	17: 26,043,322 (GRCm39)	I48S	probably damaging	Het
Zc3hc1	T	C	6: 30,374,848 (GRCm39)	D231G	probably benign	Het
Zfp142	T	C	1: 74,617,309 (GRCm39)	K341E	possibly damaging	Het
Zfp142	T	A	1: 74,617,306 (GRCm39)	S342C	possibly damaging	Het
Zfp142	T	G	1: 74,617,308 (GRCm39)	K341T	possibly damaging	Het
Zfp804b	T	A	5: 6,819,989 (GRCm39)	I989L	probably benign	Het
Zfyve9	A	C	4: 108,531,720 (GRCm39)	V1095G	probably damaging	Het

Other mutations in Pigu

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02833:Pigu	APN	2	155,187,565 (GRCm39)	splice site	probably benign
IGL03213:Pigu	APN	2	155,177,291 (GRCm39)	missense	probably damaging	1.00
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

2015-04-16