Mutagenetix > Incidental Mutation

Incidental Mutation 'R4904:Pigq'

378067

Institutional Source

Beutler Lab

Gene Symbol

Pigq

Ensembl Gene

ENSMUSG00000025728

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class Q

Synonyms

Gpi1p, Gpih, Gpi1h, Gpi1

MMRRC Submission

042507-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4904 (G1)

Quality Score

199

Status

Validated

Chromosome

Chromosomal Location

26145398-26161855 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 26150034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146415 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026823] [ENSMUST00000097368] [ENSMUST00000135253] [ENSMUST00000139226] [ENSMUST00000208071] [ENSMUST00000208242] [ENSMUST00000208043] [ENSMUST00000140304] [ENSMUST00000207073] [ENSMUST00000208499]

AlphaFold

Q9QYT7

Predicted Effect

probably benign
Transcript: ENSMUST00000026823

SMART Domains

Protein: ENSMUSP00000026823
Gene: ENSMUSG00000025728

Domain	Start	End	E-Value	Type
low complexity region	214	228	N/A	INTRINSIC
Pfam:Gpi1	274	463	5.1e-79	PFAM
transmembrane domain	478	500	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097368

SMART Domains

Protein: ENSMUSP00000094981
Gene: ENSMUSG00000025728

Domain	Start	End	E-Value	Type
low complexity region	214	228	N/A	INTRINSIC
transmembrane domain	276	298	N/A	INTRINSIC
Pfam:Gpi1	365	523	8.6e-66	PFAM
transmembrane domain	538	560	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123929

Predicted Effect

probably benign
Transcript: ENSMUST00000133650

SMART Domains

Protein: ENSMUSP00000117102
Gene: ENSMUSG00000025728

Domain	Start	End	E-Value	Type
low complexity region	118	132	N/A	INTRINSIC
Pfam:Gpi1	180	367	2.4e-71	PFAM
transmembrane domain	382	404	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135253

SMART Domains

Protein: ENSMUSP00000122239
Gene: ENSMUSG00000025728

Domain	Start	End	E-Value	Type
low complexity region	59	78	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139078

Predicted Effect

probably benign
Transcript: ENSMUST00000139226

SMART Domains

Protein: ENSMUSP00000115447
Gene: ENSMUSG00000025728

Domain	Start	End	E-Value	Type
low complexity region	214	228	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156924

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207777

Predicted Effect

probably benign
Transcript: ENSMUST00000207496

Predicted Effect

probably benign
Transcript: ENSMUST00000208071

Predicted Effect

probably benign
Transcript: ENSMUST00000208242

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180868

Predicted Effect

probably benign
Transcript: ENSMUST00000208043

Predicted Effect

probably benign
Transcript: ENSMUST00000140304

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148064

Predicted Effect

probably benign
Transcript: ENSMUST00000207073

Predicted Effect

probably benign
Transcript: ENSMUST00000208499

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

94% (82/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	T	G	4: 129,906,332 (GRCm39)	I920S	possibly damaging	Het
Afap1l1	A	G	18: 61,871,786 (GRCm39)	I556T	probably benign	Het
Ankfy1	C	A	11: 72,642,931 (GRCm39)	H665N	probably benign	Het
Aqp9	A	C	9: 71,069,685 (GRCm39)		probably benign	Het
Arhgap21	A	G	2: 20,854,872 (GRCm39)	S1497P	probably benign	Het
Armc7	A	G	11: 115,379,800 (GRCm39)	D166G	probably damaging	Het
Arrdc1	C	A	2: 24,816,676 (GRCm39)	V167F	possibly damaging	Het
Col6a3	A	T	1: 90,729,164 (GRCm39)	I1259N	probably damaging	Het
Coq8a	C	T	1: 180,006,168 (GRCm39)	R207Q	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dcbld1	C	T	10: 52,196,066 (GRCm39)	Q425*	probably null	Het
Def8	A	G	8: 124,188,219 (GRCm39)	N445D	probably damaging	Het
Dicer1	C	T	12: 104,679,325 (GRCm39)	V551I	probably benign	Het
Dst	A	T	1: 34,208,879 (GRCm39)	T800S	probably damaging	Het
Dtl	A	T	1: 191,300,457 (GRCm39)	C136S	probably damaging	Het
Duox1	T	A	2: 122,151,345 (GRCm39)	Y310N	probably damaging	Het
Duxf1	T	A	10: 58,059,309 (GRCm39)	R482*	probably null	Het
Ebf1	T	C	11: 44,759,996 (GRCm39)	F211S	probably damaging	Het
Gm44501	A	T	17: 40,889,884 (GRCm39)	I133F	possibly damaging	Het
Gm6625	T	C	8: 89,873,379 (GRCm39)		noncoding transcript	Het
Golgb1	A	T	16: 36,713,748 (GRCm39)	D243V	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Gtf2a1l	G	A	17: 88,997,471 (GRCm39)		probably null	Het
Herc2	T	C	7: 55,807,234 (GRCm39)	F2471L	probably damaging	Het
Hfe	A	T	13: 23,892,037 (GRCm39)	I109N	probably damaging	Het
Hrg	A	G	16: 22,770,000 (GRCm39)	E43G	probably benign	Het
Hspa1a	T	C	17: 35,189,427 (GRCm39)	D492G	probably damaging	Het
Itgb8	T	C	12: 119,134,606 (GRCm39)	D487G	probably benign	Het
Jag1	A	G	2: 136,929,062 (GRCm39)	V798A	probably damaging	Het
Kcnq5	A	G	1: 21,494,324 (GRCm39)	V501A	probably damaging	Het
Kntc1	T	C	5: 123,916,396 (GRCm39)	V743A	possibly damaging	Het
Ly86	G	T	13: 37,599,496 (GRCm39)	V126F	possibly damaging	Het
Med26	A	T	8: 73,250,691 (GRCm39)	L136H	probably damaging	Het
Mpp3	T	C	11: 101,891,413 (GRCm39)	D575G	probably benign	Het
Myoc	G	A	1: 162,466,994 (GRCm39)	M54I	probably benign	Het
Nlrp1c-ps	A	G	11: 71,133,454 (GRCm39)		noncoding transcript	Het
Or10v9	C	T	19: 11,833,231 (GRCm39)	V29M	possibly damaging	Het
Or51t4	A	G	7: 102,598,272 (GRCm39)	Y190C	probably damaging	Het
Or5v1b	A	G	17: 37,841,522 (GRCm39)	Y218C	probably damaging	Het
Pak5	A	T	2: 135,925,267 (GRCm39)	D678E	probably benign	Het
Pcdhb12	T	C	18: 37,570,909 (GRCm39)	V685A	possibly damaging	Het
Pcdhga2	A	G	18: 37,802,932 (GRCm39)	T259A	possibly damaging	Het
Pde6a	A	T	18: 61,398,105 (GRCm39)	M702L	probably benign	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Ptch1	A	C	13: 63,670,818 (GRCm39)	I904S	probably damaging	Het
Rflnb	A	T	11: 75,912,964 (GRCm39)	C141*	probably null	Het
Rilpl1	C	A	5: 124,652,807 (GRCm39)		probably null	Het
Rpgrip1	T	C	14: 52,358,544 (GRCm39)	S217P	possibly damaging	Het
Rpgrip1	A	T	14: 52,397,586 (GRCm39)	I1292F	probably damaging	Het
Sema3a	A	C	5: 13,631,066 (GRCm39)	Y534S	probably damaging	Het
Sez6	A	G	11: 77,866,080 (GRCm39)	Y736C	probably damaging	Het
Shank1	G	T	7: 43,983,464 (GRCm39)		probably benign	Het
Slc45a4	G	A	15: 73,458,691 (GRCm39)	S294F	probably benign	Het
Slc9a8	A	G	2: 167,313,316 (GRCm39)	I393V	possibly damaging	Het
Sod1	T	A	16: 90,019,732 (GRCm39)	F46Y	probably damaging	Het
Sult1b1	T	C	5: 87,682,912 (GRCm39)	D11G	probably benign	Het
Syn3	T	G	10: 86,302,950 (GRCm39)	K68N	possibly damaging	Het
Taar8c	C	T	10: 23,977,147 (GRCm39)	V222I	probably benign	Het
Tbx20	T	C	9: 24,670,129 (GRCm39)	K235E	probably damaging	Het
Tcaf3	C	A	6: 42,570,931 (GRCm39)	E274*	probably null	Het
Tll1	A	T	8: 64,523,233 (GRCm39)	M493K	probably benign	Het
Tmem236	T	A	2: 14,200,803 (GRCm39)	S123T	probably benign	Het
Trim33	T	C	3: 103,238,963 (GRCm39)	V647A	possibly damaging	Het
Tspear	T	A	10: 77,705,489 (GRCm39)	Y296N	possibly damaging	Het
Vps13d	T	C	4: 144,882,015 (GRCm39)	K1187E	probably damaging	Het
Xpot	C	T	10: 121,453,083 (GRCm39)	V52I	probably benign	Het
Zdhhc3	A	T	9: 122,929,452 (GRCm39)	V61E	probably damaging	Het
Zfp955a	A	T	17: 33,461,162 (GRCm39)	C323*	probably null	Het

Other mutations in Pigq

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01596:Pigq	APN	17	26,146,660 (GRCm39)	missense	possibly damaging	0.86
IGL02516:Pigq	APN	17	26,156,221 (GRCm39)	missense	probably benign	0.01
R0669:Pigq	UTSW	17	26,155,736 (GRCm39)	critical splice donor site	probably null
R1830:Pigq	UTSW	17	26,153,980 (GRCm39)	missense	probably benign	0.31
R2232:Pigq	UTSW	17	26,151,183 (GRCm39)	missense	probably benign	0.00
R5008:Pigq	UTSW	17	26,153,177 (GRCm39)	missense	probably benign
R5394:Pigq	UTSW	17	26,150,446 (GRCm39)	missense	possibly damaging	0.88
R5764:Pigq	UTSW	17	26,151,093 (GRCm39)	missense	probably damaging	0.99
R6814:Pigq	UTSW	17	26,150,630 (GRCm39)	unclassified	probably benign
R6880:Pigq	UTSW	17	26,153,802 (GRCm39)	missense	probably damaging	1.00
R7198:Pigq	UTSW	17	26,153,199 (GRCm39)	missense	probably benign	0.01
R7456:Pigq	UTSW	17	26,153,580 (GRCm39)	missense	unknown
R7806:Pigq	UTSW	17	26,150,700 (GRCm39)	missense	probably benign	0.45
R7895:Pigq	UTSW	17	26,156,299 (GRCm39)	missense	probably benign	0.34
R8973:Pigq	UTSW	17	26,151,141 (GRCm39)	missense	probably damaging	0.98
R9124:Pigq	UTSW	17	26,156,233 (GRCm39)	missense	probably damaging	0.98
X0020:Pigq	UTSW	17	26,150,497 (GRCm39)	missense	probably damaging	0.96
X0067:Pigq	UTSW	17	26,153,980 (GRCm39)	missense	probably benign	0.31
Z1177:Pigq	UTSW	17	26,145,469 (GRCm39)	missense
Z1177:Pigq	UTSW	17	26,145,462 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- AGATAGCCTGTTTCCTGTGTGC -3'
(R):5'- TCCATTTGCTTACCCAGATGTG -3'

Sequencing Primer
(F):5'- TCCTGTGTGCCTGGCTCAG -3'
(R):5'- CCCAGATGTGATACATGAAGTTTCCC -3'

Posted On

2016-04-15