Mutagenetix > Incidental Mutation

Incidental Mutation 'R7198:Pigq'

560113

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

045337-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7198 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26145398-26161855 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26153199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 331 (V331I)

Ref Sequence

ENSEMBL: ENSMUSP00000094981 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026823] [ENSMUST00000097368] [ENSMUST00000135253] [ENSMUST00000139226] [ENSMUST00000140304] [ENSMUST00000145745] [ENSMUST00000148307] [ENSMUST00000148382] [ENSMUST00000207073] [ENSMUST00000208043] [ENSMUST00000208071] [ENSMUST00000208242] [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
AA Change: V331I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000094981
Gene: ENSMUSG00000025728
AA Change: V331I

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

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

probably benign
Transcript: ENSMUST00000140304

Predicted Effect

probably benign
Transcript: ENSMUST00000145745

Predicted Effect

probably benign
Transcript: ENSMUST00000148307

Predicted Effect

probably benign
Transcript: ENSMUST00000148382

Predicted Effect

probably benign
Transcript: ENSMUST00000207073

Predicted Effect

probably benign
Transcript: ENSMUST00000207496

Predicted Effect

probably benign
Transcript: ENSMUST00000208043

Predicted Effect

probably benign
Transcript: ENSMUST00000208071

Predicted Effect

probably benign
Transcript: ENSMUST00000208242

Predicted Effect

probably benign
Transcript: ENSMUST00000208499

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	C	T	11: 109,969,481 (GRCm39)	S365N	probably damaging	Het
Baiap3	G	A	17: 25,462,814 (GRCm39)	R1075C	probably benign	Het
Baz2b	A	G	2: 59,792,550 (GRCm39)	L526P	probably benign	Het
Bbs1	A	T	19: 4,945,043 (GRCm39)	L376Q	probably damaging	Het
Bcl9	T	A	3: 97,112,511 (GRCm39)	M1315L	possibly damaging	Het
Bcl9	T	C	3: 97,116,183 (GRCm39)	Q837R	probably damaging	Het
Cct2	A	G	10: 116,889,029 (GRCm39)	V490A	probably benign	Het
Cdh23	T	C	10: 60,148,378 (GRCm39)	Y2663C	possibly damaging	Het
Chit1	A	G	1: 134,078,229 (GRCm39)	K346E	possibly damaging	Het
Chl1	A	G	6: 103,683,517 (GRCm39)	Y781C	probably damaging	Het
Col12a1	A	C	9: 79,557,314 (GRCm39)	L1938R	possibly damaging	Het
Cpxm2	T	A	7: 131,681,813 (GRCm39)	N239Y	probably damaging	Het
Cyp3a41b	A	G	5: 145,519,330 (GRCm39)	Y54H	probably benign	Het
Dclk1	A	C	3: 55,385,296 (GRCm39)	D369A	possibly damaging	Het
Dnai4	A	G	4: 102,919,610 (GRCm39)	V498A	probably damaging	Het
Dpy19l3	T	C	7: 35,449,190 (GRCm39)	N71S	possibly damaging	Het
Efcab3	T	A	11: 104,642,711 (GRCm39)	N1111K	probably benign	Het
Fer	T	A	17: 64,228,683 (GRCm39)	V186E	possibly damaging	Het
Gm11042	T	A	12: 74,361,888 (GRCm39)	H39L	unknown	Het
Gm14325	A	G	2: 177,473,798 (GRCm39)	I428T	probably benign	Het
Gm47995	A	G	1: 151,074,404 (GRCm39)	E69G	possibly damaging	Het
Gm6176	T	A	7: 21,750,596 (GRCm39)	I112F	probably damaging	Het
Hivep2	T	A	10: 14,005,710 (GRCm39)	D769E	probably benign	Het
Hsdl1	C	T	8: 120,294,607 (GRCm39)	V40I	probably benign	Het
Ipmk	A	G	10: 71,183,882 (GRCm39)	H34R	probably damaging	Het
Kcnd3	T	C	3: 105,366,856 (GRCm39)	L242P	probably damaging	Het
Kdm4d	T	C	9: 14,375,316 (GRCm39)	M181V	probably damaging	Het
Lats2	A	T	14: 57,934,582 (GRCm39)	I716N	probably damaging	Het
Liph	T	C	16: 21,784,772 (GRCm39)	Y305C	probably damaging	Het
Ltbp1	T	C	17: 75,533,962 (GRCm39)	V150A	possibly damaging	Het
Ly6d	A	T	15: 74,634,384 (GRCm39)	S69T	probably benign	Het
Meltf	A	G	16: 31,702,617 (GRCm39)	R115G	possibly damaging	Het
Msgn1	G	T	12: 11,258,902 (GRCm39)	D16E	probably benign	Het
Mthfd2l	T	A	5: 91,094,705 (GRCm39)	I58K	probably damaging	Het
Mup18	G	C	4: 61,591,573 (GRCm39)		probably null	Het
Nek10	T	A	14: 14,850,947 (GRCm38)	W331R	probably damaging	Het
Nphp3	A	G	9: 103,881,974 (GRCm39)	Y148C	probably damaging	Het
Or4a47	T	C	2: 89,666,076 (GRCm39)	Y71C	probably damaging	Het
Or5h19	C	T	16: 58,856,456 (GRCm39)	V215I	probably benign	Het
Or6c33	T	A	10: 129,853,760 (GRCm39)	C177S	probably damaging	Het
Oscp1	A	G	4: 125,980,459 (GRCm39)	T325A	possibly damaging	Het
Pcdha4	T	A	18: 37,086,613 (GRCm39)	N265K	probably damaging	Het
Plekhg4	A	G	8: 106,105,329 (GRCm39)	E598G	probably damaging	Het
Pou6f2	G	A	13: 18,303,748 (GRCm39)	T120M	probably damaging	Het
Psg27	T	A	7: 18,295,726 (GRCm39)	T240S	probably damaging	Het
Samd12	T	A	15: 53,723,649 (GRCm39)	I15F	probably damaging	Het
Scaf4	A	T	16: 90,049,318 (GRCm39)	D256E	unknown	Het
Scaf8	T	A	17: 3,213,373 (GRCm39)	M154K	unknown	Het
Slc27a1	T	C	8: 72,032,071 (GRCm39)	V64A	possibly damaging	Het
Smc5	G	A	19: 23,237,064 (GRCm39)	R256*	probably null	Het
Snx31	A	G	15: 36,555,455 (GRCm39)	F31L	probably benign	Het
Spag17	T	C	3: 100,002,888 (GRCm39)	S1871P	probably benign	Het
Tdpoz4	T	G	3: 93,704,662 (GRCm39)	S320A	probably benign	Het
Tmprss11c	A	T	5: 86,379,691 (GRCm39)	C406S	probably damaging	Het
Tnip1	G	A	11: 54,808,630 (GRCm39)	A519V	probably benign	Het
Tssc4	T	A	7: 142,624,724 (GRCm39)		probably null	Het
Uba3	A	T	6: 97,182,512 (GRCm39)	M1K	probably null	Het
Usp32	GAACAAGTCCACAACAA	GAACAA	11: 84,913,681 (GRCm39)		probably null	Het
Wnt11	T	C	7: 98,496,588 (GRCm39)	M176T	possibly damaging	Het
Wrn	C	T	8: 33,814,346 (GRCm39)	G366D	probably benign	Het
Xylt1	T	A	7: 117,255,807 (GRCm39)	I793N	probably damaging	Het
Zfp677	T	G	17: 21,618,679 (GRCm39)	C579G	probably damaging	Het
Zscan4-ps1	T	A	7: 10,799,626 (GRCm39)	K421M	probably damaging	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
R4904:Pigq	UTSW	17	26,150,034 (GRCm39)	unclassified	probably benign
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
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'- TTTCCCCAGACAAAGCTGGC -3'
(R):5'- TGGGCTGTCCACACTATTG -3'

Sequencing Primer
(F):5'- CTGGCCAAGAAACAGAATATAGAAAC -3'
(R):5'- CAGATTGCTCTTACACTGGAGAC -3'

Posted On

2019-06-26