Mutagenetix > Incidental Mutation

Incidental Mutation 'R0732:Pigl'

67674

Institutional Source

Beutler Lab

Gene Symbol

Pigl

Ensembl Gene

ENSMUSG00000014245

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class L

Synonyms

LOC327942

MMRRC Submission

038913-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0732 (G1)

Quality Score

187

Status

Not validated

Chromosome

Chromosomal Location

62349286-62405243 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62349307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 8 (C8S)

Ref Sequence

ENSEMBL: ENSMUSP00000014389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014389] [ENSMUST00000018645] [ENSMUST00000069456] [ENSMUST00000127471] [ENSMUST00000141447]

AlphaFold

Q5SX19

Predicted Effect

possibly damaging
Transcript: ENSMUST00000014389
AA Change: C8S

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000014389
Gene: ENSMUSG00000014245
AA Change: C8S

Domain	Start	End	E-Value	Type
Pfam:PIG-L	44	168	5.8e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000018645

SMART Domains

Protein: ENSMUSP00000018645
Gene: ENSMUSG00000018501

Domain	Start	End	E-Value	Type
low complexity region	51	74	N/A	INTRINSIC
Pfam:GPS2_interact	150	239	1.4e-37	PFAM
coiled coil region	302	329	N/A	INTRINSIC
low complexity region	349	366	N/A	INTRINSIC
SANT	437	485	2.76e-7	SMART
coiled coil region	507	544	N/A	INTRINSIC
low complexity region	593	617	N/A	INTRINSIC
SANT	624	672	3.29e-14	SMART
low complexity region	710	731	N/A	INTRINSIC
low complexity region	771	788	N/A	INTRINSIC
low complexity region	888	899	N/A	INTRINSIC
low complexity region	987	995	N/A	INTRINSIC
low complexity region	1002	1013	N/A	INTRINSIC
low complexity region	1036	1049	N/A	INTRINSIC
internal_repeat_2	1061	1298	1.62e-6	PROSPERO
internal_repeat_2	1299	1515	1.62e-6	PROSPERO
low complexity region	1516	1527	N/A	INTRINSIC
coiled coil region	1712	1749	N/A	INTRINSIC
low complexity region	1834	1848	N/A	INTRINSIC
low complexity region	1969	1980	N/A	INTRINSIC
low complexity region	2036	2055	N/A	INTRINSIC
PDB:3N00\|B	2064	2084	4e-7	PDB
low complexity region	2086	2101	N/A	INTRINSIC
low complexity region	2157	2168	N/A	INTRINSIC
PDB:2OVM\|B	2267	2290	2e-8	PDB
low complexity region	2311	2324	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000069456

SMART Domains

Protein: ENSMUSP00000068974
Gene: ENSMUSG00000018501

Domain	Start	End	E-Value	Type
low complexity region	51	74	N/A	INTRINSIC
coiled coil region	176	217	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127471

SMART Domains

Protein: ENSMUSP00000121806
Gene: ENSMUSG00000018501

Domain	Start	End	E-Value	Type
low complexity region	51	74	N/A	INTRINSIC
coiled coil region	176	217	N/A	INTRINSIC
coiled coil region	302	329	N/A	INTRINSIC
low complexity region	349	366	N/A	INTRINSIC
SANT	437	485	2.76e-7	SMART
coiled coil region	508	545	N/A	INTRINSIC
low complexity region	594	618	N/A	INTRINSIC
SANT	625	673	3.29e-14	SMART
low complexity region	711	732	N/A	INTRINSIC
low complexity region	756	773	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141447

SMART Domains

Protein: ENSMUSP00000123822
Gene: ENSMUSG00000018501

Domain	Start	End	E-Value	Type
low complexity region	51	74	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147918

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat enzyme suggests that this protein localizes to the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,523,411 (GRCm39)	Y1175C	probably damaging	Het
Acsm3	T	C	7: 119,373,057 (GRCm39)	S187P	probably benign	Het
Adam28	T	C	14: 68,874,796 (GRCm39)	I294V	probably benign	Het
Adgrv1	T	C	13: 81,651,123 (GRCm39)	I3057M	possibly damaging	Het
Aff4	T	C	11: 53,266,423 (GRCm39)	V304A	probably benign	Het
Akr1b10	T	C	6: 34,367,044 (GRCm39)	Y108H	probably benign	Het
Ankib1	T	C	5: 3,763,163 (GRCm39)	N522S	possibly damaging	Het
Ano1	T	A	7: 144,173,225 (GRCm39)		probably null	Het
Antxr2	G	T	5: 98,108,567 (GRCm39)		probably null	Het
Arc	G	A	15: 74,543,044 (GRCm39)	T393I	probably damaging	Het
Arhgef33	A	G	17: 80,688,783 (GRCm39)	D5G	possibly damaging	Het
Atf2	A	T	2: 73,675,844 (GRCm39)	M169K	possibly damaging	Het
BC005624	T	A	2: 30,863,949 (GRCm39)	T215S	possibly damaging	Het
Bmp8b	G	A	4: 122,999,199 (GRCm39)	G19D	unknown	Het
Cacna1d	T	C	14: 29,764,877 (GRCm39)	N1987S	probably damaging	Het
Camta1	T	A	4: 151,670,941 (GRCm39)		probably null	Het
Catsperg2	C	T	7: 29,400,121 (GRCm39)	G316D	probably damaging	Het
Cbs	G	T	17: 31,844,003 (GRCm39)	N209K	probably benign	Het
Ccdc122	T	A	14: 77,329,199 (GRCm39)	M84K	probably damaging	Het
Cd5	C	T	19: 10,700,649 (GRCm39)	C285Y	probably damaging	Het
Chpf2	T	C	5: 24,795,419 (GRCm39)	M1T	probably null	Het
Coch	T	A	12: 51,642,155 (GRCm39)	D42E	probably damaging	Het
Crip2	C	T	12: 113,104,178 (GRCm39)		probably benign	Het
Crlf2	G	C	5: 109,705,004 (GRCm39)	P67R	probably damaging	Het
Cxcl16	G	T	11: 70,346,234 (GRCm39)	P233H	probably damaging	Het
Cyfip1	T	C	7: 55,536,529 (GRCm39)	I319T	probably damaging	Het
Ddhd2	T	C	8: 26,231,348 (GRCm39)	Q364R	probably damaging	Het
Ephx2	A	G	14: 66,324,412 (GRCm39)		probably null	Het
Exoc6b	C	A	6: 84,832,504 (GRCm39)	V397L	probably damaging	Het
Fam83b	T	A	9: 76,400,210 (GRCm39)	K298*	probably null	Het
Fbxo8	T	A	8: 57,044,564 (GRCm39)	I289N	probably damaging	Het
Fkbp9	T	A	6: 56,855,089 (GRCm39)	M536K	probably benign	Het
Flot1	C	T	17: 36,136,416 (GRCm39)	R190W	possibly damaging	Het
Gbp2b	T	A	3: 142,312,739 (GRCm39)	V374E	probably benign	Het
Gna15	T	A	10: 81,348,390 (GRCm39)	S114C	probably damaging	Het
Gstt4	T	A	10: 75,653,155 (GRCm39)	T136S	probably benign	Het
Hcn3	C	T	3: 89,056,093 (GRCm39)	V524M	probably damaging	Het
Kctd16	A	T	18: 40,391,616 (GRCm39)	D68V	probably damaging	Het
Kics2	T	C	10: 121,586,852 (GRCm39)	V253A	possibly damaging	Het
Krt90	G	T	15: 101,468,860 (GRCm39)	F227L	possibly damaging	Het
Lrrc37	T	C	11: 103,510,664 (GRCm39)	T435A	unknown	Het
Maip1	A	G	1: 57,450,994 (GRCm39)	Y212C	probably damaging	Het
Mamdc2	C	T	19: 23,356,233 (GRCm39)	D72N	probably damaging	Het
Marveld3	A	T	8: 110,675,115 (GRCm39)	Y234N	probably damaging	Het
Mas1	A	G	17: 13,060,634 (GRCm39)	I263T	probably benign	Het
Matk	T	A	10: 81,094,140 (GRCm39)		probably null	Het
Mrgpre	T	A	7: 143,335,303 (GRCm39)	I67F	possibly damaging	Het
Mthfd1	T	A	12: 76,340,948 (GRCm39)	I449N	probably damaging	Het
Nacc1	C	T	8: 85,402,830 (GRCm39)	R321Q	probably damaging	Het
Neb	T	C	2: 52,148,693 (GRCm39)	D2618G	probably damaging	Het
Neb	T	C	2: 52,181,280 (GRCm39)	Y1109C	probably damaging	Het
Nell1	T	G	7: 50,506,135 (GRCm39)	W781G	probably damaging	Het
Or4g16	T	A	2: 111,137,325 (GRCm39)	Y258*	probably null	Het
Or4x6	A	G	2: 89,949,666 (GRCm39)	V92A	probably benign	Het
Or52d1	T	C	7: 103,755,501 (GRCm39)	L5P	probably damaging	Het
Or55b4	T	C	7: 102,133,650 (GRCm39)	I226V	probably benign	Het
Or5p72	C	A	7: 108,021,784 (GRCm39)	A2D	probably benign	Het
Or6k4	A	T	1: 173,964,981 (GRCm39)	I224F	possibly damaging	Het
Or8s8	T	C	15: 98,354,959 (GRCm39)	L256S	possibly damaging	Het
Or8u10	A	C	2: 85,915,928 (GRCm39)	S64R	probably benign	Het
Pcdh7	C	A	5: 57,878,657 (GRCm39)	D737E	probably damaging	Het
Pdss1	T	G	2: 22,791,324 (GRCm39)	M55R	probably benign	Het
Pex6	C	T	17: 47,035,626 (GRCm39)	R889W	probably damaging	Het
Plekha7	A	T	7: 115,744,472 (GRCm39)	M585K	probably damaging	Het
Ppp1r1a	C	T	15: 103,441,514 (GRCm39)	M66I	possibly damaging	Het
Ptcd3	A	T	6: 71,858,155 (GRCm39)		probably benign	Het
Rhov	A	T	2: 119,101,495 (GRCm39)	V37E	probably damaging	Het
Rnf213	A	T	11: 119,331,894 (GRCm39)	M2368L	probably damaging	Het
Skida1	T	C	2: 18,050,968 (GRCm39)		probably benign	Het
Slc25a28	T	C	19: 43,655,392 (GRCm39)	D161G	probably benign	Het
Smc6	T	C	12: 11,340,818 (GRCm39)	V490A	probably damaging	Het
Sohlh2	T	A	3: 55,097,794 (GRCm39)		probably null	Het
Stk31	A	G	6: 49,394,429 (GRCm39)	T264A	probably benign	Het
Syngap1	T	A	17: 27,173,962 (GRCm39)	S190R	possibly damaging	Het
Tacr1	T	A	6: 82,529,882 (GRCm39)	V200E	probably damaging	Het
Tbrg4	C	T	11: 6,570,812 (GRCm39)	R220H	probably benign	Het
Tcf20	A	G	15: 82,736,504 (GRCm39)	L1649P	probably benign	Het
Tcirg1	A	T	19: 3,947,866 (GRCm39)	L523Q	possibly damaging	Het
Tinag	T	A	9: 76,908,936 (GRCm39)	K335M	possibly damaging	Het
Tkt	T	G	14: 30,293,097 (GRCm39)		probably null	Het
Tnpo1	C	T	13: 99,000,320 (GRCm39)	R349H	probably damaging	Het
Trim26	T	A	17: 37,163,510 (GRCm39)	S230R	possibly damaging	Het
Trim8	T	A	19: 46,503,178 (GRCm39)		probably null	Het
Trp53bp1	T	C	2: 121,078,745 (GRCm39)	R326G	probably null	Het
Ugt2a2	A	T	5: 87,608,498 (GRCm39)	I613N	probably damaging	Het
Vmn1r32	T	C	6: 66,530,690 (GRCm39)	I29V	probably benign	Het
Wnt5b	C	T	6: 119,423,543 (GRCm39)	W27*	probably null	Het

Other mutations in Pigl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0193:Pigl	UTSW	11	62,394,574 (GRCm39)	missense	probably damaging	0.99
R1612:Pigl	UTSW	11	62,403,820 (GRCm39)	missense	probably benign	0.07
R2010:Pigl	UTSW	11	62,349,508 (GRCm39)	missense	probably damaging	1.00
R4173:Pigl	UTSW	11	62,349,337 (GRCm39)	missense	probably benign	0.00
R5443:Pigl	UTSW	11	62,349,309 (GRCm39)	nonsense	probably null
R7939:Pigl	UTSW	11	62,349,506 (GRCm39)	missense	probably damaging	1.00
R8491:Pigl	UTSW	11	62,364,293 (GRCm39)	missense	probably null	0.70
R9004:Pigl	UTSW	11	62,403,779 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTTTCCACGCTAGACCACGAATC -3'
(R):5'- TGTTTCTGTCCCCAGACTGACCAG -3'

Sequencing Primer
(F):5'- ACGAATCTTGGTCTCCAGC -3'
(R):5'- CTCCTACCTGAGGAGAAGCAG -3'

Posted On

2013-09-03