Mutagenetix > Incidental Mutation

Incidental Mutation 'R1875:Pigc'

211112

Institutional Source

Beutler Lab

Gene Symbol

Pigc

Ensembl Gene

ENSMUSG00000026698

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class C

Synonyms

3110030E07Rik

MMRRC Submission

039897-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1875 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

161796755-161801004 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 161798516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 166 (Y166C)

Ref Sequence

ENSEMBL: ENSMUSP00000141646 (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: Y166C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028021
Gene: ENSMUSG00000026698
AA Change: Y166C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111594
AA Change: Y166C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107221
Gene: ENSMUSG00000026698
AA Change: Y166C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141397

Predicted Effect

probably benign
Transcript: ENSMUST00000159648

Predicted Effect

probably benign
Transcript: ENSMUST00000160881

SMART Domains

Protein: ENSMUSP00000125321
Gene: ENSMUSG00000026698

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161826

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: Y166C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141646
Gene: ENSMUSG00000026698
AA Change: Y166C

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

Meta Mutation Damage Score

0.8117

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.1%

Validation Efficiency

98% (85/87)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,847,190 (GRCm39)	M685L	possibly damaging	Het
Abi3bp	A	G	16: 56,394,862 (GRCm39)	Y190C	probably damaging	Het
Adam26a	C	A	8: 44,022,888 (GRCm39)	V201L	probably benign	Het
Adamts20	G	T	15: 94,229,277 (GRCm39)	D947E	probably benign	Het
Ankrd26	A	G	6: 118,517,410 (GRCm39)		probably null	Het
Apol11a	C	A	15: 77,397,766 (GRCm39)	T39N	possibly damaging	Het
Arhgef38	T	A	3: 132,839,501 (GRCm39)		probably null	Het
Armh4	T	C	14: 49,919,815 (GRCm39)	D772G	probably damaging	Het
Atp11b	T	C	3: 35,893,296 (GRCm39)	L883P	probably damaging	Het
Btnl10	T	A	11: 58,814,586 (GRCm39)	I422N	probably damaging	Het
C2cd3	A	G	7: 100,056,232 (GRCm39)	K547E	possibly damaging	Het
Cdh2	T	A	18: 16,757,934 (GRCm39)	L549F	probably benign	Het
Celsr3	T	C	9: 108,713,037 (GRCm39)	V1825A	probably benign	Het
Cfap221	T	C	1: 119,881,389 (GRCm39)	I358V	probably benign	Het
Cimap2	G	A	4: 106,470,453 (GRCm39)		probably benign	Het
Csmd1	T	C	8: 15,979,101 (GRCm39)	K2828E	probably damaging	Het
Ddah2	T	C	17: 35,279,821 (GRCm39)	F137S	probably damaging	Het
Ddx21	A	G	10: 62,429,847 (GRCm39)	I299T	probably damaging	Het
Dnah7a	A	T	1: 53,495,691 (GRCm39)		probably benign	Het
Elmod1	A	G	9: 53,843,151 (GRCm39)	I9T	probably benign	Het
Epha2	A	G	4: 141,036,290 (GRCm39)	E242G	probably benign	Het
Erbb3	T	C	10: 128,410,335 (GRCm39)	H641R	possibly damaging	Het
Fbxl18	G	A	5: 142,871,978 (GRCm39)	A419V	probably damaging	Het
Fli1	T	C	9: 32,335,209 (GRCm39)	M408V	probably benign	Het
Fmo4	T	C	1: 162,631,187 (GRCm39)	N260S	possibly damaging	Het
Fry	A	G	5: 150,249,597 (GRCm39)	E136G	probably damaging	Het
Gm10477	T	A	X: 55,570,127 (GRCm39)	F9Y	probably damaging	Het
Gm8258	A	G	5: 104,924,320 (GRCm39)		noncoding transcript	Het
Gpr68	T	A	12: 100,845,049 (GRCm39)	D165V	probably damaging	Het
Htt	T	A	5: 34,951,456 (GRCm39)	M139K	probably benign	Het
Jup	A	G	11: 100,263,120 (GRCm39)		probably null	Het
Kifc5b	G	A	17: 27,136,264 (GRCm39)		probably null	Het
Krba1	T	A	6: 48,390,983 (GRCm39)		probably null	Het
Lamp1	G	A	8: 13,217,257 (GRCm39)	G89R	probably damaging	Het
Lrrc17	C	T	5: 21,765,650 (GRCm39)	S44F	possibly damaging	Het
Mdga1	T	C	17: 30,071,581 (GRCm39)	T347A	probably damaging	Het
Mical3	A	T	6: 121,019,025 (GRCm39)	W66R	probably damaging	Het
Mpl	A	G	4: 118,314,026 (GRCm39)	Y73H	probably benign	Het
Mterf1b	T	A	5: 4,247,364 (GRCm39)	I335N	possibly damaging	Het
Mylk3	A	G	8: 86,079,494 (GRCm39)	I388T	probably damaging	Het
Myo15a	C	T	11: 60,398,354 (GRCm39)	R2775W	probably damaging	Het
Myoz2	A	T	3: 122,819,765 (GRCm39)	S65T	probably damaging	Het
Ndrg1	T	C	15: 66,802,940 (GRCm39)	T137A	possibly damaging	Het
Neil3	G	T	8: 54,052,454 (GRCm39)	N381K	probably damaging	Het
Obsl1	T	C	1: 75,474,877 (GRCm39)	Y841C	probably damaging	Het
Or2b4	A	G	17: 38,115,996 (GRCm39)		probably benign	Het
Or6b6	G	A	7: 106,571,389 (GRCm39)	S54F	possibly damaging	Het
Otogl	T	C	10: 107,735,451 (GRCm39)	D111G	probably damaging	Het
Parp10	T	C	15: 76,127,051 (GRCm39)	E103G	probably damaging	Het
Pars2	T	C	4: 106,510,913 (GRCm39)	F232L	possibly damaging	Het
Pcdh18	A	T	3: 49,709,154 (GRCm39)	F720L	probably damaging	Het
Phf3	T	C	1: 30,869,704 (GRCm39)	E448G	possibly damaging	Het
Pik3c2a	A	T	7: 116,017,206 (GRCm39)	S184T	probably benign	Het
Pkd1l1	A	G	11: 8,794,670 (GRCm39)		probably benign	Het
Plch2	G	A	4: 155,082,965 (GRCm39)	S485F	probably damaging	Het
Plxnd1	G	T	6: 115,955,045 (GRCm39)		probably null	Het
Pnliprp2	G	T	19: 58,751,821 (GRCm39)	V189L	probably benign	Het
Prl8a2	T	C	13: 27,535,037 (GRCm39)	V103A	probably benign	Het
Psg23	G	A	7: 18,344,375 (GRCm39)	T360I	probably benign	Het
Rad51c	A	T	11: 87,279,469 (GRCm39)	I323N	probably damaging	Het
Rsbn1l	C	T	5: 21,156,696 (GRCm39)	E30K	probably benign	Het
Serpina3c	C	A	12: 104,118,145 (GRCm39)	L64F	probably damaging	Het
Shroom1	A	G	11: 53,356,502 (GRCm39)	D392G	probably damaging	Het
Slc26a5	T	A	5: 22,020,725 (GRCm39)	I540L	probably benign	Het
Slc37a4	A	G	9: 44,312,808 (GRCm39)	T321A	probably damaging	Het
Slc41a2	A	G	10: 83,091,949 (GRCm39)	L438S	probably damaging	Het
Spef2	C	T	15: 9,584,194 (GRCm39)	E1624K	probably damaging	Het
Spef2	C	T	15: 9,597,487 (GRCm39)	G1390R	possibly damaging	Het
Spmap2l	A	T	5: 77,202,431 (GRCm39)	K284M	probably benign	Het
Synj2	G	T	17: 6,078,825 (GRCm39)	A740S	possibly damaging	Het
Tigd4	A	C	3: 84,502,394 (GRCm39)	D437A	probably benign	Het
Timm21	G	C	18: 84,967,387 (GRCm39)	L130V	probably damaging	Het
Tmem106a	CAGCTCAACACGACGGTA	CAGCTCAACACGACGGTAAGCTCAACACGACGGTA	11: 101,477,204 (GRCm39)		probably benign	Het
Tmem131l	A	T	3: 83,812,383 (GRCm39)	C1313*	probably null	Het
Tmem86b	A	T	7: 4,632,698 (GRCm39)	I47N	possibly damaging	Het
Tspan13	T	C	12: 36,070,550 (GRCm39)		probably null	Het
Vps54	A	G	11: 21,250,251 (GRCm39)	T396A	probably benign	Het
Zfp106	A	T	2: 120,344,096 (GRCm39)		probably null	Het
Zfp668	T	C	7: 127,465,654 (GRCm39)		probably null	Het
Zfp809	A	T	9: 22,150,027 (GRCm39)	R175*	probably null	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
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
R7143:Pigc	UTSW	1	161,798,161 (GRCm39)	missense	probably damaging	1.00
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'- ACTGGCATCTTCCTTGGTTG -3'
(R):5'- TGACCCCTACATAGCTTCGC -3'

Sequencing Primer
(F):5'- ATCTTATCGATGGAGGTGATGGAC -3'
(R):5'- CTACATAGCTTCGCGGGGTGTAC -3'

Posted On

2014-06-30