Mutagenetix > Incidental Mutations

Incidental Mutation 'R7140:Pigu'

553383

Institutional Source

Beutler Lab

Gene Symbol

Pigu

Ensembl Gene

ENSMUSG00000038383

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class U

Synonyms

Cdc91l1, 5430426F17Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7140 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155278243-155357430 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 155301240 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 248 (L248R)

Ref Sequence

ENSEMBL: ENSMUSP00000076816 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077626
AA Change: L248R

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000076816
Gene: ENSMUSG00000038383
AA Change: L248R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165234
AA Change: L247R

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000126236
Gene: ENSMUSG00000038383
AA Change: L247R

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

Meta Mutation Damage Score

0.6493

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (70/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	T	C	8: 27,120,901		probably null	Het
Ap2a2	G	A	7: 141,598,864	A148T	probably benign	Het
Arhgef3	A	T	14: 27,401,707	N442Y	probably damaging	Het
B3gat3	A	G	19: 8,925,852	Y191C	probably damaging	Het
B430306N03Rik	A	T	17: 48,322,455	K203*	probably null	Het
C1qtnf6	T	A	15: 78,525,083	Y188F	probably benign	Het
Capn10	T	C	1: 92,945,271	V573A	possibly damaging	Het
Cbx4	T	C	11: 119,081,928	Y207C	probably damaging	Het
Ccdc43	G	T	11: 102,688,869		probably null	Het
Ccng2	C	A	5: 93,268,755	P45Q	probably benign	Het
Cd86	T	C	16: 36,620,901	H68R	probably benign	Het
Cmtm4	A	G	8: 104,355,195	Y187H	probably damaging	Het
Cst11	T	C	2: 148,768,729	N134S	probably benign	Het
Cyp3a25	A	T	5: 146,003,045	F51I	probably benign	Het
Dnhd1	A	G	7: 105,693,766	E1439G	probably benign	Het
Dock4	T	C	12: 40,636,159	V131A	probably benign	Het
Dpysl2	A	G	14: 66,862,533	S85P	probably benign	Het
Dync1i2	A	G	2: 71,247,939	H324R	probably benign	Het
Elf1	A	G	14: 79,567,270	D162G	probably benign	Het
Eri3	G	A	4: 117,649,407		probably null	Het
Fbxl21	T	C	13: 56,532,332	S203P	probably damaging	Het
Foxi1	G	A	11: 34,205,758	R291C	probably damaging	Het
Gm13089	T	G	4: 143,698,432	H147P	probably benign	Het
Gprin3	C	T	6: 59,355,143	A60T	possibly damaging	Het
Hecw1	A	G	13: 14,316,533	C212R	probably benign	Het
Hivep3	T	C	4: 120,097,121	L878P	probably damaging	Het
Hs6st3	A	T	14: 119,139,102	N230Y	probably damaging	Het
Htr3b	A	G	9: 48,937,141	V268A	possibly damaging	Het
Ip6k3	T	C	17: 27,144,995	T360A	probably damaging	Het
Izumo1	A	G	7: 45,626,112	T282A	probably benign	Het
Kidins220	T	A	12: 25,036,624	I1019N	probably damaging	Het
Med13l	T	C	5: 118,741,972	V1043A	probably benign	Het
Mon2	C	T	10: 123,035,453	V420I	probably benign	Het
Naip6	T	A	13: 100,300,200	Y605F	possibly damaging	Het
Nek7	A	G	1: 138,487,055	I285T	probably benign	Het
Notch3	A	G	17: 32,156,377	V357A	possibly damaging	Het
Nrxn1	G	A	17: 91,088,764		probably benign	Het
Nutm1	G	A	2: 112,250,056	R505C	probably damaging	Het
Olfr1009	T	A	2: 85,721,474	L23Q	probably damaging	Het
Olfr1200	G	A	2: 88,767,964	A117V	probably damaging	Het
Olfr1362	C	T	13: 21,611,127	V281M	possibly damaging	Het
Olfr821	T	G	10: 130,034,214	M196R	possibly damaging	Het
Ostm1	C	T	10: 42,683,272	A176V	probably null	Het
Pabpc6	C	A	17: 9,668,428	S398I	possibly damaging	Het
Pcdhac2	C	A	18: 37,144,186	P73H	possibly damaging	Het
Pcdhga9	A	G	18: 37,739,131	D671G	possibly damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Pinx1	C	A	14: 63,860,385		probably null	Het
Pon3	T	C	6: 5,221,664	N322S	possibly damaging	Het
Rnft1	A	G	11: 86,491,760	I270V	probably benign	Het
Scgb2b11	A	G	7: 32,210,581	F27L	probably damaging	Het
Slc5a4b	C	T	10: 76,075,109	V298I	probably damaging	Het
Slco1a6	T	A	6: 142,103,019	H345L	probably benign	Het
Sox1	C	T	8: 12,397,405	P349S	possibly damaging	Het
Spata31	A	G	13: 64,921,099	N354D	probably benign	Het
Speg	T	C	1: 75,406,770		probably null	Het
Stpg1	T	C	4: 135,533,722	I281T	probably benign	Het
Sult3a1	T	C	10: 33,877,287	L193P	probably damaging	Het
Tenm3	A	T	8: 48,292,236	C1097S	probably damaging	Het
Tfap2a	A	G	13: 40,730,047	S7P	probably benign	Het
Tlr1	T	C	5: 64,925,678	I519V	probably benign	Het
Tmem238	A	G	7: 4,789,073	V157A	possibly damaging	Het
Tmem45b	A	T	9: 31,434,484		probably null	Het
Togaram2	A	T	17: 71,714,766	H742L	probably benign	Het
Trpc7	A	T	13: 56,789,674	Y656*	probably null	Het
Wdr35	T	A	12: 9,022,785	Y920N	probably damaging	Het
Xab2	G	A	8: 3,618,117	R154C	possibly damaging	Het
Zfp759	A	T	13: 67,140,113	H576L	possibly damaging	Het
Zfp958	G	T	8: 4,628,481	A169S	probably benign	Het

Other mutations in Pigu

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02567:Pigu	APN	2	155331192	missense	possibly damaging	0.70
IGL02833:Pigu	APN	2	155345645	splice site	probably benign
IGL03213:Pigu	APN	2	155335371	missense	probably damaging	1.00
R1645:Pigu	UTSW	2	155328678	nonsense	probably null
R2426:Pigu	UTSW	2	155299082	missense	probably damaging	1.00
R3816:Pigu	UTSW	2	155299143	missense	probably damaging	1.00
R3879:Pigu	UTSW	2	155299143	missense	probably damaging	1.00
R5017:Pigu	UTSW	2	155299208	splice site	probably null
R5215:Pigu	UTSW	2	155335329	intron	probably benign
R5557:Pigu	UTSW	2	155278629	nonsense	probably null
R6106:Pigu	UTSW	2	155297196	missense	possibly damaging	0.67
R6718:Pigu	UTSW	2	155301286	missense	possibly damaging	0.49
R7358:Pigu	UTSW	2	155299170	missense	probably damaging	1.00
R7467:Pigu	UTSW	2	155299089	missense	probably damaging	1.00
R7503:Pigu	UTSW	2	155331144	splice site	probably null
R7844:Pigu	UTSW	2	155292720	nonsense	probably null
Z1177:Pigu	UTSW	2	155299148	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAATCAGAACTCCTAGGGACCGG -3'
(R):5'- GGATCTTCATGCATAAGCTGATAG -3'

Sequencing Primer
(F):5'- TAGGGACCGGCCAGCAG -3'
(R):5'- GCAAAGCCTTCTGGATCT -3'

Posted On

2019-05-15