Mutagenetix > Incidental Mutation

Incidental Mutation 'R7939:Pigl'

648954

Institutional Source

Beutler Lab

Gene Symbol

Pigl

Ensembl Gene

ENSMUSG00000014245

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class L

Synonyms

LOC327942

MMRRC Submission

045985-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7939 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62349286-62405243 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62349506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 74 (L74P)

Ref Sequence

ENSEMBL: ENSMUSP00000014389 (fasta)

Gene Model

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

AlphaFold

Q5SX19

Predicted Effect

probably damaging
Transcript: ENSMUST00000014389
AA Change: L74P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000014389
Gene: ENSMUSG00000014245
AA Change: L74P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	G	8: 87,275,433 (GRCm39)	I415T	probably damaging	Het
Ackr3	A	G	1: 90,142,287 (GRCm39)	S249G	probably benign	Het
Adgre1	G	T	17: 57,756,938 (GRCm39)	A732S	probably damaging	Het
Ahnak	T	A	19: 8,991,448 (GRCm39)	L4244*	probably null	Het
Aldh3a2	C	A	11: 61,115,424 (GRCm39)	C511F	probably benign	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Ankrd11	A	T	8: 123,617,812 (GRCm39)	H2013Q	probably damaging	Het
Atp5mc3	A	G	2: 73,740,206 (GRCm39)		probably null	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Chtf18	A	T	17: 25,941,111 (GRCm39)	I629N	probably damaging	Het
Clstn3	T	C	6: 124,439,158 (GRCm39)	Y33C	probably damaging	Het
Cmc2	T	C	8: 117,616,513 (GRCm39)	R71G	unknown	Het
Cts7	A	T	13: 61,504,364 (GRCm39)	N66K	probably damaging	Het
Cysltr2	C	T	14: 73,267,399 (GRCm39)	V104I	possibly damaging	Het
Dnai4	G	A	4: 102,953,798 (GRCm39)	Q134*	probably null	Het
Dnm3	C	T	1: 162,123,165 (GRCm39)	V460I	possibly damaging	Het
Ecel1	C	T	1: 87,077,256 (GRCm39)	V651I	probably benign	Het
Ext2	G	A	2: 93,560,601 (GRCm39)	R522C	probably damaging	Het
Farp2	T	C	1: 93,487,983 (GRCm39)	L70P	probably damaging	Het
Fnip1	T	C	11: 54,393,093 (GRCm39)	Y510H	probably damaging	Het
Gm15446	T	C	5: 110,090,360 (GRCm39)	V204A	probably benign	Het
Gm29394	T	C	15: 57,912,046 (GRCm39)	K53E	unknown	Het
Gm39115	T	C	7: 141,689,768 (GRCm39)	T2A	unknown	Het
Helz2	A	G	2: 180,879,543 (GRCm39)	W692R	probably damaging	Het
Htra2	A	T	6: 83,028,545 (GRCm39)	Y428N	probably damaging	Het
Khdrbs2	T	A	1: 32,212,056 (GRCm39)	S20T	probably benign	Het
Kifap3	C	A	1: 163,643,427 (GRCm39)	Y217*	probably null	Het
Mast2	A	T	4: 116,287,668 (GRCm39)	S136T	probably benign	Het
Mesp1	C	T	7: 79,442,734 (GRCm39)	W181*	probably null	Het
Mtch1	A	C	17: 29,559,806 (GRCm39)	S158A	probably damaging	Het
Mtmr10	C	A	7: 63,963,899 (GRCm39)	S211R	probably benign	Het
Mtmr9	C	A	14: 63,771,973 (GRCm39)	Q204H	probably damaging	Het
Myo5a	A	G	9: 75,097,182 (GRCm39)	N43D		Het
Myom3	G	T	4: 135,534,589 (GRCm39)		probably null	Het
Neb	T	C	2: 52,076,073 (GRCm39)	D5903G	probably damaging	Het
Niban1	T	G	1: 151,581,775 (GRCm39)	L457R	probably damaging	Het
Noxred1	A	G	12: 87,268,105 (GRCm39)	V342A	probably benign	Het
Nsd2	T	A	5: 34,012,933 (GRCm39)	S421R	probably benign	Het
Or10a3	T	C	7: 108,480,481 (GRCm39)	I111V	probably benign	Het
Or5p55	T	A	7: 107,566,986 (GRCm39)	C127*	probably null	Het
Oxa1l	T	C	14: 54,604,876 (GRCm39)	C270R	probably benign	Het
Pcdha3	T	A	18: 37,080,933 (GRCm39)	N558K	probably damaging	Het
Pcdha7	T	C	18: 37,109,063 (GRCm39)	V696A	possibly damaging	Het
Plch2	G	T	4: 155,087,235 (GRCm39)	R339S	possibly damaging	Het
Prdm11	G	T	2: 92,843,074 (GRCm39)	D128E	probably damaging	Het
Ptdss1	A	G	13: 67,143,411 (GRCm39)	T415A	probably benign	Het
Ptprj	A	T	2: 90,295,009 (GRCm39)	W400R	probably damaging	Het
Qdpr	T	C	5: 45,607,407 (GRCm39)	Y13C	probably damaging	Het
Retsat	G	A	6: 72,581,919 (GRCm39)	M355I	probably benign	Het
Slc24a1	T	G	9: 64,835,648 (GRCm39)	E826D	probably benign	Het
Taok3	T	C	5: 117,331,902 (GRCm39)	F40L	probably benign	Het
Tecta	T	C	9: 42,299,519 (GRCm39)	T190A	probably damaging	Het
Tmem220	C	A	11: 66,920,850 (GRCm39)	T85K	probably damaging	Het
Traip	T	C	9: 107,833,077 (GRCm39)	F38L	probably benign	Het
Tspan1	A	T	4: 116,024,209 (GRCm39)	I18N	probably damaging	Het
Ttc24	A	T	3: 87,981,945 (GRCm39)	D40E	possibly damaging	Het
Ttn	A	T	2: 76,542,737 (GRCm39)	Y33416*	probably null	Het
Ttn	A	T	2: 76,576,105 (GRCm39)	D24929E	probably damaging	Het
Vmn2r16	T	A	5: 109,487,705 (GRCm39)	S193T	possibly damaging	Het
Vmn2r83	T	A	10: 79,314,651 (GRCm39)	W300R	probably damaging	Het
Vps13a	C	T	19: 16,718,155 (GRCm39)	V522M	possibly damaging	Het
Wdr17	C	A	8: 55,140,677 (GRCm39)	R232L	probably damaging	Het
Wtap	A	T	17: 13,200,683 (GRCm39)	Y33*	probably null	Het
Zc3h10	A	T	10: 128,380,376 (GRCm39)	V327E	probably damaging	Het
Zfp658	T	C	7: 43,224,301 (GRCm39)	S859P	possibly damaging	Het
Zfp874b	A	T	13: 67,622,622 (GRCm39)	C225*	probably null	Het
Zfp980	A	T	4: 145,428,582 (GRCm39)	H437L	probably damaging	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
R0732:Pigl	UTSW	11	62,349,307 (GRCm39)	missense	possibly damaging	0.81
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
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'- TTCCTCCGGGTTTGGAACTC -3'
(R):5'- TGAAGGTACTGAACGGAACC -3'

Sequencing Primer
(F):5'- GGTTTGGAACTCAGCGGAAC -3'
(R):5'- TGATGAACAACCACTTTTCTGC -3'

Posted On

2020-09-15