Mutagenetix > Incidental Mutation

Incidental Mutation 'R0321:Pigc'

35834

Institutional Source

Beutler Lab

Gene Symbol

Pigc

Ensembl Gene

ENSMUSG00000026698

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class C

Synonyms

3110030E07Rik

MMRRC Submission

038531-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0321 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

161796755-161801004 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 161798668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 217 (Q217*)

Ref Sequence

ENSEMBL: ENSMUSP00000141646 (fasta)

Gene Model

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

AlphaFold

Q9CXR4

Predicted Effect

probably null
Transcript: ENSMUST00000028021
AA Change: Q217*

SMART Domains

Protein: ENSMUSP00000028021
Gene: ENSMUSG00000026698
AA Change: Q217*

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

Predicted Effect

probably null
Transcript: ENSMUST00000111594
AA Change: Q217*

SMART Domains

Protein: ENSMUSP00000107221
Gene: ENSMUSG00000026698
AA Change: Q217*

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 null
Transcript: ENSMUST00000193784
AA Change: Q217*

SMART Domains

Protein: ENSMUSP00000141646
Gene: ENSMUSG00000026698
AA Change: Q217*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.7%

Validation Efficiency

100% (79/79)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,314,620 (GRCm39)	T353A	probably benign	Het
4933402N03Rik	T	A	7: 130,747,956 (GRCm39)	Y12F	probably benign	Het
Acbd3	T	G	1: 180,579,870 (GRCm39)	F505V	probably damaging	Het
Acod1	T	C	14: 103,292,565 (GRCm39)	V363A	probably benign	Het
Adam28	T	C	14: 68,855,200 (GRCm39)	Q647R	probably damaging	Het
Akr1c18	T	A	13: 4,185,243 (GRCm39)	L296F	probably damaging	Het
Ap1b1	G	A	11: 4,982,464 (GRCm39)	A588T	probably benign	Het
Armc8	A	T	9: 99,415,230 (GRCm39)	I150K	probably damaging	Het
Bahcc1	T	C	11: 120,164,251 (GRCm39)		probably null	Het
Bltp1	T	C	3: 36,960,937 (GRCm39)		probably null	Het
Carmil3	C	A	14: 55,739,698 (GRCm39)	D928E	possibly damaging	Het
Ccrl2	T	C	9: 110,885,279 (GRCm39)	N73S	probably damaging	Het
Cdk9	C	A	2: 32,602,698 (GRCm39)		probably benign	Het
Cel	G	T	2: 28,451,160 (GRCm39)	Q66K	probably benign	Het
D930028M14Rik	T	A	7: 24,854,991 (GRCm39)		noncoding transcript	Het
Dgka	G	C	10: 128,556,952 (GRCm39)		probably benign	Het
Dlg1	T	C	16: 31,676,854 (GRCm39)	V801A	probably damaging	Het
Dnah10	A	G	5: 124,900,416 (GRCm39)	D3834G	probably benign	Het
Dnajc15	C	T	14: 78,112,273 (GRCm39)	A23T	possibly damaging	Het
Ell2	T	A	13: 75,910,007 (GRCm39)	L119Q	probably damaging	Het
Epha2	T	C	4: 141,035,716 (GRCm39)	W51R	probably damaging	Het
F10	T	C	8: 13,103,413 (GRCm39)	F266L	possibly damaging	Het
Fam110a	T	C	2: 151,812,587 (GRCm39)	N61S	probably benign	Het
Fam83c	C	T	2: 155,671,620 (GRCm39)	S605N	probably benign	Het
Fbxw15	C	T	9: 109,394,453 (GRCm39)	V121I	probably benign	Het
Gart	G	A	16: 91,419,925 (GRCm39)		probably benign	Het
Gfi1b	A	G	2: 28,503,897 (GRCm39)	F101S	probably damaging	Het
Gimap5	C	G	6: 48,727,449 (GRCm39)		probably benign	Het
Gpr180	T	C	14: 118,385,699 (GRCm39)		probably null	Het
Gsn	T	C	2: 35,180,408 (GRCm39)	F188L	probably benign	Het
Hivep3	T	A	4: 119,952,788 (GRCm39)	I368N	possibly damaging	Het
Itih3	T	A	14: 30,634,063 (GRCm39)	I153F	probably damaging	Het
Kdm8	A	T	7: 125,060,178 (GRCm39)	Q360L	probably damaging	Het
Lars1	T	C	18: 42,335,697 (GRCm39)	K1140E	probably damaging	Het
Mocs1	A	G	17: 49,740,286 (GRCm39)	Y71C	probably damaging	Het
Mroh5	C	T	15: 73,661,892 (GRCm39)	G433E	probably damaging	Het
Mrpl45	T	A	11: 97,217,764 (GRCm39)		probably benign	Het
Mtcl1	T	A	17: 66,686,426 (GRCm39)	T827S	probably damaging	Het
Muc5b	T	C	7: 141,415,972 (GRCm39)	S2973P	probably benign	Het
Mynn	T	C	3: 30,661,706 (GRCm39)	S263P	probably benign	Het
Myo1f	A	C	17: 33,811,986 (GRCm39)	D595A	probably benign	Het
Necab1	A	T	4: 14,960,083 (GRCm39)	I288N	probably damaging	Het
Nutm2	T	G	13: 50,626,991 (GRCm39)	M382R	probably damaging	Het
Oprm1	T	C	10: 6,779,183 (GRCm39)	S131P	probably damaging	Het
Pcsk9	A	G	4: 106,301,891 (GRCm39)	S619P	probably benign	Het
Phkg1	A	T	5: 129,898,365 (GRCm39)	M1K	probably null	Het
Pik3r4	T	A	9: 105,525,906 (GRCm39)	F259I	probably damaging	Het
Pkdcc	A	T	17: 83,529,541 (GRCm39)		probably benign	Het
Pnpla5	G	T	15: 84,004,920 (GRCm39)	L144M	probably damaging	Het
Prtg	A	T	9: 72,755,307 (GRCm39)	I259F	possibly damaging	Het
Prune2	T	G	19: 17,098,291 (GRCm39)	L1265R	possibly damaging	Het
Prune2	C	T	19: 17,099,818 (GRCm39)	A1774V	probably benign	Het
Rcn3	A	G	7: 44,738,139 (GRCm39)		probably benign	Het
Rnf213	C	T	11: 119,328,931 (GRCm39)	Q2067*	probably null	Het
Sec14l1	T	A	11: 117,041,568 (GRCm39)		probably benign	Het
Serpinb3a	C	T	1: 106,975,212 (GRCm39)	W198*	probably null	Het
Smpdl3b	A	T	4: 132,468,755 (GRCm39)	V154E	probably damaging	Het
Spag17	T	C	3: 100,008,719 (GRCm39)	S1950P	probably damaging	Het
Sprr1a	T	C	3: 92,391,609 (GRCm39)	T131A	probably benign	Het
Tatdn2	T	G	6: 113,686,462 (GRCm39)	L690W	probably damaging	Het
Tbc1d1	T	C	5: 64,496,937 (GRCm39)	F864L	probably damaging	Het
Tmem8b	C	A	4: 43,674,444 (GRCm39)	R243S	probably damaging	Het
Tnfrsf11a	T	A	1: 105,772,583 (GRCm39)	C623*	probably null	Het
Tprg1l	T	C	4: 154,243,812 (GRCm39)	N115D	probably damaging	Het
Ube2t	C	T	1: 134,895,538 (GRCm39)	A4V	possibly damaging	Het
Vps41	G	A	13: 19,026,465 (GRCm39)		probably benign	Het
Wdr17	C	T	8: 55,149,303 (GRCm39)		probably null	Het
Wwc1	G	A	11: 35,732,637 (GRCm39)	Q1024*	probably null	Het
Zfand5	T	A	19: 21,253,879 (GRCm39)	N27K	probably damaging	Het
Zfp142	A	T	1: 74,608,873 (GRCm39)	C1641S	probably damaging	Het
Zfyve16	A	G	13: 92,629,042 (GRCm39)	I1465T	probably damaging	Het
Zswim1	G	A	2: 164,667,947 (GRCm39)	G400S	probably benign	Het
Zswim3	C	T	2: 164,662,279 (GRCm39)	A253V	possibly 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
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
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'- TCACCTGTGCTAAAGACCCTGACG -3'
(R):5'- ATTTCAGCTTCATCCCAAGGCCCG -3'

Sequencing Primer
(F):5'- TCTGTCAGTACAGACACTATCTACG -3'
(R):5'- CAAGGCCCGTGAATATTTTCC -3'

Posted On

2013-05-09