Mutagenetix > Incidental Mutation

Incidental Mutation 'R5394:Pigq'

426082

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

042966-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5394 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26145398-26161855 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26150446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 442 (D442G)

Ref Sequence

ENSEMBL: ENSMUSP00000146387 (fasta)

Gene Model

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

AlphaFold

Q9QYT7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026823
AA Change: D442G

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000026823
Gene: ENSMUSG00000025728
AA Change: D442G

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

possibly damaging
Transcript: ENSMUST00000097368
AA Change: D502G

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000094981
Gene: ENSMUSG00000025728
AA Change: D502G

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

unknown
Transcript: ENSMUST00000133650
AA Change: D345G

SMART Domains

Protein: ENSMUSP00000117102
Gene: ENSMUSG00000025728
AA Change: D345G

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: ENSMUST00000148045

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208043
AA Change: D442G

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207073
AA Change: D27G

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

unknown
Transcript: ENSMUST00000207496
AA Change: D69G

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208071
AA Change: D442G

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148064

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156924

Predicted Effect

probably benign
Transcript: ENSMUST00000140304

Predicted Effect

probably benign
Transcript: ENSMUST00000208242

Predicted Effect

probably benign
Transcript: ENSMUST00000208499

Meta Mutation Damage Score

0.9424

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

97% (96/99)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	A	G	3: 146,356,363 (GRCm39)	F182L	probably damaging	Het
4930503B20Rik	T	C	3: 146,356,713 (GRCm39)	Y65C	probably damaging	Het
4930590J08Rik	A	G	6: 91,896,174 (GRCm39)	T341A	probably benign	Het
Adamts13	G	A	2: 26,876,570 (GRCm39)	V495I	probably benign	Het
Alms1	C	A	6: 85,600,070 (GRCm39)	T2101K	probably benign	Het
Als2	T	C	1: 59,214,105 (GRCm39)	D1361G	probably benign	Het
Ankdd1a	A	T	9: 65,412,496 (GRCm39)	M275K	probably benign	Het
Arfip2	A	T	7: 105,286,183 (GRCm39)	Y161*	probably null	Het
Asap3	A	T	4: 135,968,570 (GRCm39)	E707D	probably benign	Het
Atm	C	T	9: 53,419,077 (GRCm39)		probably null	Het
Atp9b	A	T	18: 80,820,052 (GRCm39)	S577R	probably benign	Het
Bltp1	G	T	3: 36,971,817 (GRCm39)	V517F	probably damaging	Het
Camk1d	G	C	2: 5,308,177 (GRCm39)	D274E	probably benign	Het
Cebpz	C	T	17: 79,229,634 (GRCm39)	D907N	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cnst	T	A	1: 179,429,301 (GRCm39)		probably benign	Het
Cog2	G	T	8: 125,259,268 (GRCm39)	V196L	probably benign	Het
Col11a1	A	G	3: 113,987,833 (GRCm39)		probably null	Het
Cops6	T	A	5: 138,161,762 (GRCm39)		probably null	Het
Cspg4	A	G	9: 56,797,484 (GRCm39)	E1316G	probably damaging	Het
Cwc22	G	C	2: 77,759,683 (GRCm39)	D122E	possibly damaging	Het
Dapk2	G	A	9: 66,176,000 (GRCm39)	V300M	probably benign	Het
Dcp1b	C	A	6: 119,152,328 (GRCm39)	D25E	probably damaging	Het
Ddx10	A	T	9: 53,145,157 (GRCm39)	Y273*	probably null	Het
Dhx58	T	C	11: 100,589,034 (GRCm39)	E504G	probably benign	Het
Dync2h1	C	T	9: 7,120,899 (GRCm39)	W2129*	probably null	Het
Egr4	A	T	6: 85,489,442 (GRCm39)	L206Q	probably damaging	Het
Eif4g3	A	G	4: 137,830,709 (GRCm39)		probably null	Het
Fbxo46	A	G	7: 18,870,541 (GRCm39)	N387D	possibly damaging	Het
Fpr-rs3	T	G	17: 20,844,470 (GRCm39)	M224L	probably benign	Het
Gm14325	G	A	2: 177,474,777 (GRCm39)	H102Y	possibly damaging	Het
Gxylt2	A	G	6: 100,682,075 (GRCm39)	K91E	probably benign	Het
Hecw1	A	T	13: 14,497,174 (GRCm39)	V278E	probably damaging	Het
Hydin	A	G	8: 111,266,474 (GRCm39)		probably null	Het
Iars1	T	C	13: 49,875,641 (GRCm39)	L776P	probably damaging	Het
Kcnh2	T	A	5: 24,537,039 (GRCm39)	T182S	probably benign	Het
Kplce	T	C	3: 92,776,005 (GRCm39)	E226G	probably damaging	Het
Lats2	T	G	14: 57,928,810 (GRCm39)	S1022R	probably benign	Het
Lef1	C	T	3: 130,988,308 (GRCm39)	P264S	probably damaging	Het
Lyrm1	A	C	7: 119,513,471 (GRCm39)	I79L	possibly damaging	Het
Macroh2a2	G	A	10: 61,587,466 (GRCm39)	T156M	possibly damaging	Het
Man2b2	T	G	5: 36,971,862 (GRCm39)	Q618P	probably benign	Het
Mei1	T	C	15: 81,976,957 (GRCm39)	V180A	possibly damaging	Het
Mmp15	A	T	8: 96,093,032 (GRCm39)	N137I	probably damaging	Het
Mms22l	A	G	4: 24,517,115 (GRCm39)	D222G	possibly damaging	Het
Mmut	T	A	17: 41,258,075 (GRCm39)	S414T	probably benign	Het
Myo18a	T	C	11: 77,744,176 (GRCm39)	M1846T	probably benign	Het
Neo1	A	T	9: 58,897,517 (GRCm39)	N146K	probably benign	Het
Nos3	A	G	5: 24,588,888 (GRCm39)	T1174A	probably benign	Het
Or10d4b	A	T	9: 39,534,430 (GRCm39)	T4S	probably benign	Het
Or10x1	T	C	1: 174,196,836 (GRCm39)	Y118H	probably damaging	Het
Or4c125	A	T	2: 89,169,806 (GRCm39)	I280N	probably damaging	Het
Or51f1	A	T	7: 102,505,686 (GRCm39)	S268T	probably damaging	Het
Pax8	A	T	2: 24,332,922 (GRCm39)		probably benign	Het
Pde5a	G	A	3: 122,611,658 (GRCm39)	C532Y	probably damaging	Het
Pik3c2g	T	C	6: 139,665,808 (GRCm39)	V43A	probably benign	Het
Pik3cb	T	C	9: 98,970,716 (GRCm39)	N325S	probably benign	Het
Pot1b	T	C	17: 56,007,063 (GRCm39)	K18R	probably benign	Het
Ppp1r42	A	T	1: 10,069,630 (GRCm39)	L144Q	probably damaging	Het
Prdm13	T	A	4: 21,679,455 (GRCm39)	Q345L	unknown	Het
Pyroxd2	T	A	19: 42,728,898 (GRCm39)	K167N	probably benign	Het
Rnf123	T	C	9: 107,947,930 (GRCm39)	Y131C	probably damaging	Het
Rnf25	T	C	1: 74,634,411 (GRCm39)	D204G	probably damaging	Het
Rpf2	G	A	10: 40,109,181 (GRCm39)	T60I	possibly damaging	Het
Scaf11	T	C	15: 96,317,339 (GRCm39)	N742D	probably benign	Het
Shank1	G	A	7: 44,002,075 (GRCm39)	D1257N	possibly damaging	Het
Shc2	A	G	10: 79,465,933 (GRCm39)	V168A	probably damaging	Het
Slc16a4	G	A	3: 107,199,758 (GRCm39)	V2M	probably benign	Het
Slc24a3	T	C	2: 145,455,494 (GRCm39)	V461A	probably benign	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slc4a4	T	A	5: 89,345,623 (GRCm39)		probably null	Het
Snx30	T	A	4: 59,879,329 (GRCm39)	D189E	probably benign	Het
Sspo	A	G	6: 48,472,194 (GRCm39)	Q4653R	possibly damaging	Het
Tpte	G	T	8: 22,817,806 (GRCm39)	R264I	probably damaging	Het
Tsc22d4	T	A	5: 137,757,036 (GRCm39)		probably benign	Het
Ubn1	T	C	16: 4,892,233 (GRCm39)	L585P	possibly damaging	Het
Usp24	A	T	4: 106,265,210 (GRCm39)	D1781V	probably damaging	Het
Utp20	A	T	10: 88,608,777 (GRCm39)	Y1514*	probably null	Het
Vmn1r55	A	T	7: 5,149,995 (GRCm39)	Y143N	probably damaging	Het
Vmn2r65	A	G	7: 84,595,862 (GRCm39)	V274A	probably benign	Het
Wdr17	A	G	8: 55,092,524 (GRCm39)	S1087P	possibly damaging	Het
Wnt5b	C	A	6: 119,417,283 (GRCm39)	R156L	probably damaging	Het
Zan	T	C	5: 137,433,896 (GRCm39)	D2279G	unknown	Het
Zan	T	C	5: 137,462,336 (GRCm39)	T948A	unknown	Het
Zfp758	T	C	17: 22,591,049 (GRCm39)	S4P	probably damaging	Het
Zfp839	A	G	12: 110,822,020 (GRCm39)	E278G	probably benign	Het
Zfp994	T	A	17: 22,419,506 (GRCm39)	H481L	probably damaging	Het
Zswim9	G	A	7: 12,994,909 (GRCm39)	R416C	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
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'- TAAGCCAAAGCAGGTCCTATGC -3'
(R):5'- GCTTCTATGTCTACGGTGCC -3'

Sequencing Primer
(F):5'- ATGCCCACCTTGGTAAAGTCTGTAG -3'
(R):5'- GCGCTCAACAGGGTTTGAG -3'

Posted On

2016-08-04