Mutagenetix > Incidental Mutation

Incidental Mutation 'R5764:Pigq'

446200

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

043365-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5764 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26145398-26161855 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26151093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 412 (I412N)

Ref Sequence

ENSEMBL: ENSMUSP00000094981 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026823] [ENSMUST00000097368] [ENSMUST00000135253] [ENSMUST00000208071] [ENSMUST00000208043] [ENSMUST00000208499] [ENSMUST00000140304] [ENSMUST00000207073] [ENSMUST00000208242] [ENSMUST00000139226] [ENSMUST00000145745]

AlphaFold

Q9QYT7

Predicted Effect

probably damaging
Transcript: ENSMUST00000026823
AA Change: I352N

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026823
Gene: ENSMUSG00000025728
AA Change: I352N

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 damaging
Transcript: ENSMUST00000097368
AA Change: I412N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000094981
Gene: ENSMUSG00000025728
AA Change: I412N

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

noncoding transcript
Transcript: ENSMUST00000124032

Predicted Effect

unknown
Transcript: ENSMUST00000133650
AA Change: I255N

SMART Domains

Protein: ENSMUSP00000117102
Gene: ENSMUSG00000025728
AA Change: I255N

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

noncoding transcript
Transcript: ENSMUST00000148045

Predicted Effect

probably damaging
Transcript: ENSMUST00000208071
AA Change: I352N

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208043
AA Change: I352N

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180868

Predicted Effect

probably benign
Transcript: ENSMUST00000207496

Predicted Effect

probably benign
Transcript: ENSMUST00000208499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156924

Predicted Effect

probably benign
Transcript: ENSMUST00000140304

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148064

Predicted Effect

probably benign
Transcript: ENSMUST00000207073

Predicted Effect

probably benign
Transcript: ENSMUST00000208242

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: ENSMUST00000145745

Meta Mutation Damage Score

0.9566

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

98% (53/54)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	G	A	15: 74,413,423 (GRCm39)	V536I	possibly damaging	Het
Arap2	T	C	5: 62,800,197 (GRCm39)	T1277A	probably damaging	Het
Cep85l	A	T	10: 53,225,090 (GRCm39)	D166E	probably benign	Het
Cope	T	C	8: 70,759,231 (GRCm39)	S125P	probably damaging	Het
Dzip3	A	G	16: 48,747,724 (GRCm39)		probably benign	Het
Endou	G	A	15: 97,612,488 (GRCm39)	R253C	probably damaging	Het
Entpd1	A	T	19: 40,727,417 (GRCm39)		probably null	Het
Fhip1a	A	G	3: 85,573,172 (GRCm39)	Y926H	probably damaging	Het
Grk3	A	G	5: 113,114,776 (GRCm39)		probably null	Het
Hba-a2	T	A	11: 32,247,156 (GRCm39)		probably null	Het
Hecw1	C	T	13: 14,497,094 (GRCm39)	V305I	probably damaging	Het
Hspg2	C	A	4: 137,289,032 (GRCm39)	T3735K	probably damaging	Het
Htr4	G	A	18: 62,570,613 (GRCm39)	A223T	probably damaging	Het
Iglv1	T	C	16: 18,904,190 (GRCm39)	I7M	unknown	Het
Jag1	C	T	2: 136,931,167 (GRCm39)	C655Y	probably damaging	Het
Jmjd1c	C	T	10: 67,062,291 (GRCm39)	T1548I	probably damaging	Het
Kif5a	GGGTTGGT	GGGT	10: 127,066,898 (GRCm39)		probably null	Het
Klra6	T	A	6: 129,999,692 (GRCm39)	Q92L	possibly damaging	Het
Lrp1	T	C	10: 127,431,187 (GRCm39)	N325S	probably benign	Het
Ly75	C	T	2: 60,148,783 (GRCm39)	R1182H	probably benign	Het
Map2	T	C	1: 66,454,034 (GRCm39)	S975P	probably damaging	Het
Med13l	T	A	5: 118,866,707 (GRCm39)	L587Q	probably damaging	Het
Mpdz	A	G	4: 81,274,683 (GRCm39)	F180L	probably benign	Het
Myadm	G	A	7: 3,345,768 (GRCm39)	V177I	possibly damaging	Het
Ngly1	T	A	14: 16,260,799 (GRCm38)	M161K	probably benign	Het
Nup153	A	G	13: 46,840,803 (GRCm39)	M255T	probably damaging	Het
Pgm1	C	T	4: 99,822,043 (GRCm39)	A303V	probably damaging	Het
Pgr	A	T	9: 8,900,538 (GRCm39)	I24F	probably benign	Het
Plod2	A	G	9: 92,485,074 (GRCm39)	H525R	probably damaging	Het
Polq	T	G	16: 36,837,706 (GRCm39)	M206R	probably damaging	Het
Psap	T	A	10: 60,129,186 (GRCm39)	S100T	probably benign	Het
Psme4	G	A	11: 30,722,364 (GRCm39)		probably benign	Het
Serpina1d	T	A	12: 103,732,080 (GRCm39)	M260L	probably benign	Het
Serpinf2	A	G	11: 75,328,230 (GRCm39)	L106P	possibly damaging	Het
Sumf1	C	T	6: 108,095,424 (GRCm39)		probably benign	Het
Tcp1	A	G	17: 13,135,489 (GRCm39)	T13A	probably benign	Het
Tfap2a	A	C	13: 40,881,831 (GRCm39)	I185S	possibly damaging	Het
Tlr2	A	C	3: 83,745,819 (GRCm39)	I88S	probably damaging	Het
Tmc4	A	T	7: 3,675,022 (GRCm39)	F283L	probably damaging	Het
Tox4	T	C	14: 52,523,277 (GRCm39)	V79A	probably damaging	Het
Trim10	A	T	17: 37,181,073 (GRCm39)	E101D	probably damaging	Het
Troap	T	A	15: 98,973,300 (GRCm39)	I22N	probably damaging	Het
Unc13c	C	T	9: 73,441,185 (GRCm39)		probably null	Het
Utp4	T	G	8: 107,644,248 (GRCm39)	V529G	possibly damaging	Het
Zeb2	T	C	2: 44,886,931 (GRCm39)	M664V	possibly damaging	Het
Zfp180	A	G	7: 23,800,909 (GRCm39)	Y53C	possibly 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
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'- TGCTGGATATGGGTGAGCAC -3'
(R):5'- CTGTGACCATGTCATCCCTG -3'

Sequencing Primer
(F):5'- ACTGGACCTAGACTTCAGCTTGAG -3'
(R):5'- GTGACCATGTCATCCCTGCCTAC -3'

Posted On

2016-11-21