Mutagenetix > Incidental Mutation

Incidental Mutation 'R7143:Pigc'

553509

Institutional Source

Beutler Lab

Gene Symbol

Pigc

Ensembl Gene

ENSMUSG00000026698

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class C

Synonyms

3110030E07Rik

MMRRC Submission

045222-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7143 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

161796755-161801004 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 161798161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 48 (Y48H)

Ref Sequence

ENSEMBL: ENSMUSP00000028021 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028021] [ENSMUST00000111594] [ENSMUST00000159648] [ENSMUST00000160881] [ENSMUST00000162676] [ENSMUST00000193784]

AlphaFold

Q9CXR4

Predicted Effect

probably damaging
Transcript: ENSMUST00000028021
AA Change: Y48H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028021
Gene: ENSMUSG00000026698
AA Change: Y48H

Domain	Start	End	E-Value	Type
Pfam:GPI2	14	284	6.2e-90	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111594
AA Change: Y48H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107221
Gene: ENSMUSG00000026698
AA Change: Y48H

Domain	Start	End	E-Value	Type
Pfam:GPI2	14	284	1.7e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159648

Predicted Effect

probably damaging
Transcript: ENSMUST00000160881
AA Change: Y48H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125321
Gene: ENSMUSG00000026698
AA Change: Y48H

Domain	Start	End	E-Value	Type
Pfam:GPI2	14	140	2.8e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162676

SMART Domains

Protein: ENSMUSP00000124751
Gene: ENSMUSG00000086277

Domain	Start	End	E-Value	Type
Pfam:DUF4548	17	181	1.9e-89	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000193784
AA Change: Y48H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141646
Gene: ENSMUSG00000026698
AA Change: Y48H

Domain	Start	End	E-Value	Type
Pfam:GPI2	14	284	1.7e-94	PFAM

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. The encoded protein is one subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. Two alternatively spliced transcripts that encode the same protein have been found for this gene. A pseudogene on chromosome 11 has also been characterized. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	C	T	7: 103,708,422 (GRCm39)	C129Y	probably damaging	Het
Agbl4	A	G	4: 111,474,333 (GRCm39)	N374S	probably damaging	Het
Agl	A	G	3: 116,585,670 (GRCm39)	S153P	probably damaging	Het
Akap6	T	G	12: 52,934,147 (GRCm39)	D546E	probably benign	Het
Ankrd17	C	A	5: 90,433,820 (GRCm39)	A650S	possibly damaging	Het
Ankrd53	A	G	6: 83,739,893 (GRCm39)	R16G	possibly damaging	Het
Apba2	T	C	7: 64,394,165 (GRCm39)	L570P	probably damaging	Het
Asap1	A	G	15: 64,063,377 (GRCm39)	F101L	probably damaging	Het
Cadm4	T	A	7: 24,198,992 (GRCm39)	I89N	possibly damaging	Het
Cadps	C	T	14: 12,491,838 (GRCm38)	V771I	probably benign	Het
Cenph	A	G	13: 100,898,285 (GRCm39)	V206A	possibly damaging	Het
Cenpn	A	G	8: 117,663,966 (GRCm39)	T253A	probably benign	Het
Cep120	C	T	18: 53,816,457 (GRCm39)	G939R	probably benign	Het
Cfap57	G	A	4: 118,477,906 (GRCm39)		probably benign	Het
Clip1	T	C	5: 123,791,673 (GRCm39)	I166V	probably benign	Het
Cstf3	T	A	2: 104,476,961 (GRCm39)	V144E	probably benign	Het
Cyp21a1	T	A	17: 35,021,300 (GRCm39)	H357L	probably damaging	Het
Cyth3	T	A	5: 143,670,151 (GRCm39)	V12E	unknown	Het
Dgat2	T	C	7: 98,806,331 (GRCm39)	I289V	probably benign	Het
Dip2a	A	G	10: 76,133,625 (GRCm39)	C527R	probably damaging	Het
Dnah17	A	C	11: 117,976,956 (GRCm39)	W1879G	probably damaging	Het
Dnai2	A	G	11: 114,645,076 (GRCm39)	T504A	possibly damaging	Het
Efl1	C	T	7: 82,411,888 (GRCm39)	P759L	probably damaging	Het
Egfr	A	C	11: 16,821,627 (GRCm39)	I351L	probably benign	Het
Ercc6	G	A	14: 32,292,262 (GRCm39)	E1209K	probably damaging	Het
Fam135b	A	T	15: 71,351,000 (GRCm39)	M292K	probably benign	Het
Fbxl7	C	A	15: 26,543,244 (GRCm39)	V468L	probably benign	Het
Fhl2	G	T	1: 43,181,011 (GRCm39)	H60N	probably damaging	Het
G6pc1	G	T	11: 101,261,549 (GRCm39)	R83L	probably damaging	Het
Gata4	C	A	14: 63,442,066 (GRCm39)	R252L	probably damaging	Het
Glt8d1	T	A	14: 30,728,602 (GRCm39)	I10N	probably damaging	Het
Gm10803	T	A	2: 93,394,304 (GRCm39)	Y25*	probably null	Het
Gm19345	T	C	7: 19,591,759 (GRCm39)	F108S	unknown	Het
Gm4952	A	G	19: 12,595,771 (GRCm39)	T54A	possibly damaging	Het
Gprc6a	C	T	10: 51,490,986 (GRCm39)	R921H	probably benign	Het
Hc	A	T	2: 34,940,450 (GRCm39)	H129Q	probably benign	Het
Heatr5a	T	C	12: 52,008,251 (GRCm39)	R31G	probably benign	Het
Hephl1	T	C	9: 14,972,106 (GRCm39)	K945E	possibly damaging	Het
Ik	G	T	18: 36,884,230 (GRCm39)	M237I	probably damaging	Het
Izumo1	T	A	7: 45,276,519 (GRCm39)	S361T	probably benign	Het
Kcnq4	A	G	4: 120,568,436 (GRCm39)	F427L	probably benign	Het
Kifap3	T	A	1: 163,683,609 (GRCm39)	M430K	possibly damaging	Het
Kifap3	A	T	1: 163,653,428 (GRCm39)	N338I	possibly damaging	Het
Lamb3	A	G	1: 192,986,873 (GRCm39)	E53G	probably damaging	Het
Lrp1b	A	T	2: 41,202,655 (GRCm39)	I1266K		Het
Nat8	A	T	6: 85,807,485 (GRCm39)	I216K	probably benign	Het
Ncapd2	T	C	6: 125,156,524 (GRCm39)	I454V	probably benign	Het
Nlrp4f	A	T	13: 65,343,120 (GRCm39)	V153E	probably damaging	Het
Nlrp4f	G	C	13: 65,347,166 (GRCm39)	Q9E	possibly damaging	Het
Npy2r	A	T	3: 82,448,250 (GRCm39)	I175N	probably benign	Het
Nutm1	G	A	2: 112,080,401 (GRCm39)	R505C	probably damaging	Het
Or1l4b	A	G	2: 37,036,886 (GRCm39)	T221A	probably benign	Het
Or4a74	T	C	2: 89,440,363 (GRCm39)	M28V	probably benign	Het
Or52n3	C	T	7: 104,530,393 (GRCm39)	P160S	probably damaging	Het
Pcdh9	T	C	14: 94,125,708 (GRCm39)	N154S	probably damaging	Het
Pcdhb2	A	T	18: 37,428,934 (GRCm39)	E302D	probably benign	Het
Pclo	T	A	5: 14,908,836 (GRCm39)	V5048E	unknown	Het
Pcnt	A	G	10: 76,224,894 (GRCm39)	L1870S	possibly damaging	Het
Pisd	C	T	5: 32,895,846 (GRCm39)	V241I	possibly damaging	Het
Pkhd1l1	A	T	15: 44,437,033 (GRCm39)	M3464L	possibly damaging	Het
Pofut2	T	A	10: 77,095,260 (GRCm39)	I35N	probably benign	Het
Prss27	A	G	17: 24,264,632 (GRCm39)	Y265C	probably damaging	Het
Prss56	T	A	1: 87,115,875 (GRCm39)	I583K	probably benign	Het
Rnpep	T	C	1: 135,211,487 (GRCm39)	E87G	probably benign	Het
Shtn1	T	C	19: 59,007,338 (GRCm39)	H304R	probably damaging	Het
Slc23a4	A	T	6: 34,955,848 (GRCm39)	I62N	probably damaging	Het
Slc35e2	A	T	4: 155,703,051 (GRCm39)	I355F	probably benign	Het
Snx25	T	C	8: 46,488,752 (GRCm39)	I868V	possibly damaging	Het
Spatc1l	T	A	10: 76,405,765 (GRCm39)	L323Q	probably damaging	Het
Speer4a2	T	A	5: 26,290,674 (GRCm39)	I166F	probably benign	Het
Taok1	A	G	11: 77,428,814 (GRCm39)	V962A	probably benign	Het
Tas2r140	A	G	6: 133,032,482 (GRCm39)	I92T	probably benign	Het
Trim17	C	A	11: 58,856,010 (GRCm39)	Y22*	probably null	Het
Tti1	T	A	2: 157,849,596 (GRCm39)	M548L	probably benign	Het
Unc93b1	T	C	19: 3,985,204 (GRCm39)	V4A	unknown	Het
Utp3	G	C	5: 88,702,376 (GRCm39)		probably benign	Het
Vmn1r225	A	T	17: 20,722,646 (GRCm39)	Y29F	probably benign	Het
Vmn1r34	A	T	6: 66,614,648 (GRCm39)	I30N	probably benign	Het
Vmn2r67	T	A	7: 84,801,846 (GRCm39)	M152L	probably benign	Het
Wdr20rt	T	G	12: 65,272,692 (GRCm39)	F52V	probably benign	Het
Zfp869	G	T	8: 70,159,306 (GRCm39)	H422Q	probably damaging	Het

Other mutations in Pigc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01725:Pigc	APN	1	161,798,914 (GRCm39)	utr 3 prime	probably benign
IGL02009:Pigc	APN	1	161,798,134 (GRCm39)	missense	possibly damaging	0.95
IGL02586:Pigc	APN	1	161,798,503 (GRCm39)	missense	probably benign	0.02
IGL03095:Pigc	APN	1	161,798,345 (GRCm39)	missense	possibly damaging	0.79
IGL03109:Pigc	APN	1	161,798,345 (GRCm39)	missense	possibly damaging	0.79
apocryphon	UTSW	1	161,798,663 (GRCm39)	missense	probably benign	0.21
pistis	UTSW	1	161,798,516 (GRCm39)	missense	probably damaging	0.99
R6228_Pigc_444	UTSW	1	161,798,036 (GRCm39)	missense	probably benign	0.03
R0321:Pigc	UTSW	1	161,798,668 (GRCm39)	nonsense	probably null
R1450:Pigc	UTSW	1	161,798,822 (GRCm39)	missense	probably benign	0.01
R1708:Pigc	UTSW	1	161,798,293 (GRCm39)	missense	probably benign	0.00
R1857:Pigc	UTSW	1	161,798,446 (GRCm39)	missense	possibly damaging	0.90
R1875:Pigc	UTSW	1	161,798,516 (GRCm39)	missense	probably damaging	0.99
R2371:Pigc	UTSW	1	161,798,579 (GRCm39)	missense	possibly damaging	0.72
R2940:Pigc	UTSW	1	161,798,239 (GRCm39)	missense	possibly damaging	0.96
R3706:Pigc	UTSW	1	161,798,663 (GRCm39)	missense	probably benign	0.21
R3707:Pigc	UTSW	1	161,798,663 (GRCm39)	missense	probably benign	0.21
R3708:Pigc	UTSW	1	161,798,663 (GRCm39)	missense	probably benign	0.21
R3725:Pigc	UTSW	1	161,798,860 (GRCm39)	missense	possibly damaging	0.95
R5193:Pigc	UTSW	1	161,798,465 (GRCm39)	missense	possibly damaging	0.91
R5682:Pigc	UTSW	1	161,798,516 (GRCm39)	missense	probably damaging	0.99
R6228:Pigc	UTSW	1	161,798,036 (GRCm39)	missense	probably benign	0.03
R7509:Pigc	UTSW	1	161,798,545 (GRCm39)	missense	probably benign	0.06
R7829:Pigc	UTSW	1	161,798,033 (GRCm39)	missense	probably benign
R8030:Pigc	UTSW	1	161,798,116 (GRCm39)	missense	probably damaging	1.00
R8135:Pigc	UTSW	1	161,798,134 (GRCm39)	missense	possibly damaging	0.95
R9109:Pigc	UTSW	1	161,798,032 (GRCm39)	missense	probably benign	0.01
R9298:Pigc	UTSW	1	161,798,032 (GRCm39)	missense	probably benign	0.01
R9703:Pigc	UTSW	1	161,798,176 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GAGCCAACCTGGATTTGAGG -3'
(R):5'- AGAGTACTCTTCAGGTCGGC -3'

Sequencing Primer
(F):5'- CCAACCTGGATTTGAGGAAAGAATG -3'
(R):5'- GTCCATCACCTCCATCGATAAG -3'

Posted On

2019-05-15