Mutagenetix > Incidental Mutation

Incidental Mutation 'R9181:Pigu'

697008

Institutional Source

Beutler Lab

Gene Symbol

Pigu

Ensembl Gene

ENSMUSG00000038383

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class U

Synonyms

5430426F17Rik, Cdc91l1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9181 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155120163-155199344 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155141109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 261 (I261M)

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: I261M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000076816
Gene: ENSMUSG00000038383
AA Change: I261M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000165234
AA Change: I260M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126236
Gene: ENSMUSG00000038383
AA Change: I260M

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (53/53)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	G	T	5: 105,121,962 (GRCm39)	D138E	probably benign	Het
Acvr2a	T	A	2: 48,760,307 (GRCm39)	I21K	probably damaging	Het
Adam30	C	G	3: 98,070,194 (GRCm39)	P676A	probably benign	Het
Ankrd28	A	C	14: 31,470,627 (GRCm39)	H145Q	probably damaging	Het
Ap3m2	A	G	8: 23,289,774 (GRCm39)	Y110H	probably damaging	Het
Apoc4	A	G	7: 19,412,665 (GRCm39)	S27P	possibly damaging	Het
Bbs1	A	C	19: 4,941,070 (GRCm39)	L548R	possibly damaging	Het
Cfap99	A	T	5: 34,471,602 (GRCm39)	D346V	probably damaging	Het
Ckmt1	T	A	2: 121,189,870 (GRCm39)		probably benign	Het
Col13a1	T	C	10: 61,703,612 (GRCm39)	K436E	possibly damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Dbf4	A	G	5: 8,462,206 (GRCm39)	V105A	possibly damaging	Het
Disp2	T	A	2: 118,617,393 (GRCm39)	V129E	probably benign	Het
Dnah7b	T	C	1: 46,181,194 (GRCm39)	V1027A	probably damaging	Het
Dst	T	A	1: 34,231,818 (GRCm39)	I3137N	probably benign	Het
F5	A	G	1: 164,019,895 (GRCm39)	D790G	probably benign	Het
Fan1	A	G	7: 64,016,400 (GRCm39)	S575P	probably damaging	Het
Gemin5	C	T	11: 58,021,035 (GRCm39)	A1051T	probably benign	Het
Gsta4	A	G	9: 78,105,597 (GRCm39)	Y9C	probably damaging	Het
H2-M3	C	A	17: 37,583,172 (GRCm39)	A211E	probably damaging	Het
Ifna1	A	T	4: 88,768,453 (GRCm39)	M44L	probably benign	Het
Ildr2	A	T	1: 166,122,283 (GRCm39)	D242V	probably damaging	Het
Kif27	G	T	13: 58,492,543 (GRCm39)	Q199K	probably damaging	Het
Lmf1	T	A	17: 25,804,718 (GRCm39)	L132H	probably damaging	Het
Mbtd1	A	G	11: 93,803,241 (GRCm39)	N173S	probably benign	Het
Mettl25b	A	G	3: 87,835,392 (GRCm39)		probably benign	Het
Mgat4c	A	T	10: 102,225,123 (GRCm39)	N446Y	probably benign	Het
Minar1	A	G	9: 89,485,394 (GRCm39)	M1T	probably null	Het
Mocs1	T	A	17: 49,756,801 (GRCm39)	M261K	probably damaging	Het
Nlrp10	A	T	7: 108,524,108 (GRCm39)	F457L	probably damaging	Het
Nlrp4e	C	T	7: 23,061,270 (GRCm39)	R954*	probably null	Het
Or4s2	T	C	2: 88,473,348 (GRCm39)	M79T	probably benign	Het
Pkd1l3	T	A	8: 110,375,318 (GRCm39)	I1576N	probably damaging	Het
Plekhg6	A	C	6: 125,355,854 (GRCm39)		probably benign	Het
Pmpca	T	C	2: 26,283,365 (GRCm39)	L388P	probably damaging	Het
Polg	A	T	7: 79,104,421 (GRCm39)	I818N	probably damaging	Het
Pramel46	A	T	5: 95,418,414 (GRCm39)	V194D	probably benign	Het
Radil	A	G	5: 142,480,722 (GRCm39)	Y578H	probably damaging	Het
Retnlb	A	G	16: 48,639,084 (GRCm39)	D95G	probably damaging	Het
Rufy2	A	T	10: 62,836,166 (GRCm39)	Y365F	possibly damaging	Het
Ssc5d	A	G	7: 4,945,814 (GRCm39)	T949A	possibly damaging	Het
Svil	C	A	18: 5,090,833 (GRCm39)	R1312S	possibly damaging	Het
Syne1	T	C	10: 5,063,994 (GRCm39)	T7142A	probably damaging	Het
Tert	A	T	13: 73,785,294 (GRCm39)		probably benign	Het
Tpbgl	A	T	7: 99,274,776 (GRCm39)	D360E	probably damaging	Het
Traj13	G	A	14: 54,443,248 (GRCm39)	V17I	unknown	Het
Trim13	G	A	14: 61,842,046 (GRCm39)	R21Q	possibly damaging	Het
Wdr36	T	C	18: 32,981,382 (GRCm39)	V357A	possibly damaging	Het
Xdh	G	A	17: 74,232,006 (GRCm39)	R235C	probably damaging	Het
Zfp971	T	C	2: 177,674,736 (GRCm39)	F112L	probably damaging	Het
Znfx1	C	T	2: 166,879,738 (GRCm39)	C1546Y	probably damaging	Het
Znfx1	T	A	2: 166,880,137 (GRCm39)	E1413V	probably benign	Het
Zscan4c	A	G	7: 10,743,741 (GRCm39)	M447V	probably benign	Het
Zyx	T	A	6: 42,334,818 (GRCm39)	D541E	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGCCAGAAGCCTGATGGTG -3'
(R):5'- GATCTTCAGCCCCGCATTTG -3'

Sequencing Primer
(F):5'- CTGTCTGAGGGTACTGCCAG -3'
(R):5'- AGCCCCGCATTTGGTAAATTATCTG -3'

Posted On

2022-02-07