Mutagenetix > Incidental Mutation

Incidental Mutation 'R1907:Pign'

214414

Institutional Source

Beutler Lab

Gene Symbol

Pign

Ensembl Gene

ENSMUSG00000056536

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class N

Synonyms

MMRRC Submission

039926-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.838) question?

Stock #

R1907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105446147-105591402 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105565940 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 362 (T362A)

Ref Sequence

ENSEMBL: ENSMUSP00000139638 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070699] [ENSMUST00000186485] [ENSMUST00000187537] [ENSMUST00000190811]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070699
AA Change: T362A

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000069969
Gene: ENSMUSG00000056536
AA Change: T362A

Domain	Start	End	E-Value	Type
transmembrane domain	2	24	N/A	INTRINSIC
Pfam:Phosphodiest	116	303	1.2e-10	PFAM
Pfam:Sulfatase	148	334	2.1e-8	PFAM
low complexity region	382	393	N/A	INTRINSIC
Pfam:PigN	430	884	2.3e-138	PFAM
transmembrane domain	893	915	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000186195
AA Change: T16A

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186485
AA Change: T362A

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000139638
Gene: ENSMUSG00000056536
AA Change: T362A

Domain	Start	End	E-Value	Type
transmembrane domain	2	24	N/A	INTRINSIC
Pfam:Phosphodiest	109	330	3.7e-11	PFAM
Pfam:Sulfatase	148	334	2.1e-8	PFAM
low complexity region	382	393	N/A	INTRINSIC
Pfam:PigN	430	884	1.5e-141	PFAM
transmembrane domain	893	915	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187537
AA Change: T362A

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000140020
Gene: ENSMUSG00000056536
AA Change: T362A

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Phosphodiest	46	331	1.2e-12	PFAM
Pfam:Sulfatase	146	334	2.9e-6	PFAM
low complexity region	382	393	N/A	INTRINSIC
Pfam:PigN	430	800	5.9e-86	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190811
AA Change: T362A

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000140844
Gene: ENSMUSG00000056536
AA Change: T362A

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Phosphodiest	46	331	1.1e-12	PFAM
Pfam:Sulfatase	146	334	2.8e-6	PFAM
low complexity region	382	393	N/A	INTRINSIC
Pfam:PigN	430	794	4.4e-86	PFAM

Meta Mutation Damage Score

0.1169

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

Validation Efficiency

98% (104/106)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is involved 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 protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit abnormal gastrulation, forebrain hypoplasia, coloboma, and microphthalmia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	A	3: 121,862,661 (GRCm39)	S206R	probably damaging	Het
Abcc6	G	T	7: 45,663,593 (GRCm39)	A357E	probably benign	Het
Abhd13	T	A	8: 10,038,170 (GRCm39)	C256S	probably benign	Het
Actrt3	A	G	3: 30,652,716 (GRCm39)	V126A	probably damaging	Het
Adgrv1	A	G	13: 81,740,670 (GRCm39)		probably benign	Het
Alyref2	A	G	1: 171,331,838 (GRCm39)	D205G	probably damaging	Het
Amigo3	G	A	9: 107,930,835 (GRCm39)	R86Q	probably benign	Het
Ankrd50	G	C	3: 38,508,201 (GRCm39)	P1389A	probably damaging	Het
Aoah	A	G	13: 21,094,264 (GRCm39)	D183G	probably damaging	Het
Arap3	A	T	18: 38,129,724 (GRCm39)	S146T	probably benign	Het
Atp2c2	T	C	8: 120,476,615 (GRCm39)		probably benign	Het
Atp8b2	C	T	3: 89,853,583 (GRCm39)	V682M	probably benign	Het
Cacna1i	T	C	15: 80,259,465 (GRCm39)	I1245T	probably damaging	Het
Card14	A	G	11: 119,222,085 (GRCm39)	N460S	probably benign	Het
Ceacam5	A	G	7: 17,486,309 (GRCm39)	D602G	possibly damaging	Het
Cecr2	T	A	6: 120,738,121 (GRCm39)	H921Q	probably benign	Het
Cyb5d1	T	C	11: 69,285,566 (GRCm39)	D115G	probably benign	Het
Dbp	C	T	7: 45,357,744 (GRCm39)	T67I	possibly damaging	Het
Dennd5b	C	T	6: 148,943,074 (GRCm39)	V601I	probably benign	Het
Dnah11	G	A	12: 118,091,291 (GRCm39)	A947V	possibly damaging	Het
Dpysl3	T	A	18: 43,571,193 (GRCm39)	D27V	probably damaging	Het
Drd1	A	T	13: 54,207,271 (GRCm39)	D307E	possibly damaging	Het
Dscaml1	G	A	9: 45,651,778 (GRCm39)	G277D	probably damaging	Het
Eif4g3	C	T	4: 137,885,726 (GRCm39)	R842W	probably damaging	Het
Enam	C	T	5: 88,652,481 (GRCm39)	T1330I	possibly damaging	Het
Fabp6	T	C	11: 43,486,994 (GRCm39)		probably null	Het
Fcsk	A	T	8: 111,620,010 (GRCm39)	L289*	probably null	Het
Fhip1a	T	C	3: 85,579,940 (GRCm39)	D755G	probably benign	Het
Fsip2	C	T	2: 82,813,772 (GRCm39)	P3364S	possibly damaging	Het
Gad1	C	T	2: 70,409,482 (GRCm39)	S191F	possibly damaging	Het
Gcm1	A	C	9: 77,972,055 (GRCm39)	N332T	probably benign	Het
Gin1	G	A	1: 97,703,172 (GRCm39)		probably benign	Het
Gpr25	T	C	1: 136,188,538 (GRCm39)	D25G	probably benign	Het
Gstm4	T	C	3: 107,948,593 (GRCm39)	T172A	probably benign	Het
Hnrnpll	A	G	17: 80,342,758 (GRCm39)		probably null	Het
Il12rb2	T	A	6: 67,272,270 (GRCm39)	K339*	probably null	Het
Inpp1	A	G	1: 52,828,829 (GRCm39)	*397Q	probably null	Het
Kcp	G	T	6: 29,497,834 (GRCm39)		probably benign	Het
Kdm1b	G	A	13: 47,217,596 (GRCm39)	V352I	probably benign	Het
Klhdc2	G	T	12: 69,343,734 (GRCm39)		probably benign	Het
Krt75	T	A	15: 101,481,801 (GRCm39)	T156S	possibly damaging	Het
Lag3	T	A	6: 124,886,450 (GRCm39)	I168F	possibly damaging	Het
Lama4	T	G	10: 38,948,754 (GRCm39)	V839G	probably benign	Het
Lmtk2	G	T	5: 144,111,928 (GRCm39)	V883L	probably benign	Het
Lrrc37a	C	A	11: 103,347,982 (GRCm39)	K2904N	unknown	Het
Macf1	A	T	4: 123,266,192 (GRCm39)	I4775N	probably damaging	Het
Map2k3	T	G	11: 60,823,055 (GRCm39)	S3A	possibly damaging	Het
Mast1	G	A	8: 85,642,895 (GRCm39)	R967C	probably damaging	Het
Mettl2	T	G	11: 105,017,666 (GRCm39)	S59A	probably benign	Het
Mtr	G	A	13: 12,240,418 (GRCm39)	T530I	probably damaging	Het
Myo7b	A	T	18: 32,110,052 (GRCm39)	C1137S	possibly damaging	Het
Nacad	T	A	11: 6,552,540 (GRCm39)	H217L	probably benign	Het
Ncstn	A	T	1: 171,899,710 (GRCm39)	V324E	probably damaging	Het
Ndufaf7	C	A	17: 79,249,546 (GRCm39)	H148N	possibly damaging	Het
Or10a49	T	A	7: 108,467,705 (GRCm39)	I219F	possibly damaging	Het
Or52a24	T	A	7: 103,381,190 (GRCm39)	I19N	probably damaging	Het
Or52n2b	G	A	7: 104,566,272 (GRCm39)	T77I	probably damaging	Het
Or7g12	T	C	9: 18,899,737 (GRCm39)	I151T	possibly damaging	Het
Or8b12	T	G	9: 37,657,729 (GRCm39)	L100V	probably benign	Het
Or8k17	T	C	2: 86,066,454 (GRCm39)	K242E	possibly damaging	Het
Pcdh20	T	C	14: 88,706,140 (GRCm39)	I387V	probably benign	Het
Pclo	A	G	5: 14,728,525 (GRCm39)		probably benign	Het
Pcp2	G	A	8: 3,674,904 (GRCm39)		probably benign	Het
Pde1a	T	A	2: 79,698,651 (GRCm39)	D393V	probably damaging	Het
Pias4	T	C	10: 80,990,197 (GRCm39)	D421G	possibly damaging	Het
Pik3c2g	A	C	6: 139,789,768 (GRCm39)	K304Q	probably damaging	Het
Pkd2	T	A	5: 104,634,672 (GRCm39)	W568R	probably damaging	Het
Pld2	T	A	11: 70,435,010 (GRCm39)	I306N	probably damaging	Het
Plppr3	T	C	10: 79,709,903 (GRCm39)	K9R	probably damaging	Het
Pramel11	T	A	4: 143,622,061 (GRCm39)	R431S	possibly damaging	Het
Psme4	T	C	11: 30,760,922 (GRCm39)	V397A	probably damaging	Het
Ptbp2	A	T	3: 119,555,398 (GRCm39)	S23R	probably damaging	Het
Ptpn13	A	G	5: 103,728,575 (GRCm39)	D2074G	probably null	Het
Rab34	T	A	11: 78,082,081 (GRCm39)	L166H	probably damaging	Het
Rabgap1l	T	A	1: 160,472,880 (GRCm39)	R519S	probably benign	Het
Rasa1	A	T	13: 85,374,691 (GRCm39)	L218*	probably null	Het
Reln	A	G	5: 22,249,960 (GRCm39)		probably null	Het
Rer1	T	C	4: 155,162,956 (GRCm39)	D94G	possibly damaging	Het
Rhpn1	T	C	15: 75,583,673 (GRCm39)	V386A	probably benign	Het
Samd3	T	A	10: 26,147,754 (GRCm39)	C476*	probably null	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sipa1l3	A	G	7: 29,038,592 (GRCm39)	S352P	possibly damaging	Het
Slc27a2	A	G	2: 126,428,262 (GRCm39)	Y549C	probably benign	Het
Slc7a9	A	G	7: 35,149,279 (GRCm39)	T7A	probably benign	Het
Slco4c1	C	T	1: 96,770,224 (GRCm39)	G280D	probably damaging	Het
Snx19	T	A	9: 30,344,872 (GRCm39)	V657E	probably damaging	Het
Spata31d1c	A	G	13: 65,183,690 (GRCm39)	M411V	probably benign	Het
Spice1	T	A	16: 44,178,193 (GRCm39)	L72*	probably null	Het
Stard9	G	T	2: 120,544,293 (GRCm39)	V4471L	probably damaging	Het
Syt14	A	G	1: 192,584,143 (GRCm39)	L707P	probably damaging	Het
Tab1	T	C	15: 80,037,869 (GRCm39)	I234T	probably damaging	Het
Tas2r107	T	C	6: 131,636,951 (GRCm39)	M33V	probably benign	Het
Tbx4	T	A	11: 85,805,349 (GRCm39)	S479R	possibly damaging	Het
Tssk5	C	T	15: 76,257,093 (GRCm39)	R263Q	probably benign	Het
Ttn	T	C	2: 76,701,200 (GRCm39)		probably benign	Het
Ugt2b5	T	A	5: 87,287,489 (GRCm39)	Q226L	probably benign	Het
Ush2a	C	T	1: 188,447,261 (GRCm39)	S2483L	probably benign	Het
Wdr95	A	G	5: 149,475,891 (GRCm39)	Y63C	probably damaging	Het
Xirp2	A	G	2: 67,346,700 (GRCm39)	I2980M	probably damaging	Het
Yeats4	G	A	10: 117,051,636 (GRCm39)	T207I	probably benign	Het
Ythdc1	A	G	5: 86,978,489 (GRCm39)	R561G	probably damaging	Het
Zbtb14	G	A	17: 69,694,385 (GRCm39)	E28K	possibly damaging	Het
Zfp931	A	T	2: 177,711,684 (GRCm39)	L21Q	probably damaging	Het
Zyg11b	A	C	4: 108,112,423 (GRCm39)	M415R	probably damaging	Het

Other mutations in Pign

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Pign	APN	1	105,525,448 (GRCm39)	nonsense	probably null
IGL00770:Pign	APN	1	105,525,481 (GRCm39)	missense	probably benign	0.00
IGL00774:Pign	APN	1	105,525,481 (GRCm39)	missense	probably benign	0.00
IGL00828:Pign	APN	1	105,481,845 (GRCm39)	missense	probably damaging	0.97
IGL01407:Pign	APN	1	105,517,027 (GRCm39)	missense	probably benign	0.06
IGL01523:Pign	APN	1	105,580,903 (GRCm39)	missense	probably damaging	0.98
IGL01953:Pign	APN	1	105,516,764 (GRCm39)	splice site	probably benign
IGL02389:Pign	APN	1	105,574,506 (GRCm39)	nonsense	probably null
PIT4810001:Pign	UTSW	1	105,525,487 (GRCm39)	missense	possibly damaging	0.83
R0080:Pign	UTSW	1	105,480,130 (GRCm39)	missense	probably damaging	1.00
R0097:Pign	UTSW	1	105,515,701 (GRCm39)	splice site	probably benign
R0302:Pign	UTSW	1	105,516,818 (GRCm39)	missense	possibly damaging	0.83
R0573:Pign	UTSW	1	105,580,902 (GRCm39)	missense	probably damaging	1.00
R0580:Pign	UTSW	1	105,519,419 (GRCm39)	missense	probably benign	0.03
R0946:Pign	UTSW	1	105,519,422 (GRCm39)	missense	probably benign	0.00
R1397:Pign	UTSW	1	105,585,496 (GRCm39)	missense	probably damaging	1.00
R1462:Pign	UTSW	1	105,512,727 (GRCm39)	missense	possibly damaging	0.95
R1462:Pign	UTSW	1	105,512,727 (GRCm39)	missense	possibly damaging	0.95
R1751:Pign	UTSW	1	105,580,917 (GRCm39)	missense	probably benign	0.19
R1753:Pign	UTSW	1	105,517,042 (GRCm39)	missense	possibly damaging	0.65
R1767:Pign	UTSW	1	105,580,917 (GRCm39)	missense	probably benign	0.19
R1854:Pign	UTSW	1	105,482,223 (GRCm39)	missense	probably damaging	0.99
R2845:Pign	UTSW	1	105,585,521 (GRCm39)	missense	possibly damaging	0.80
R2846:Pign	UTSW	1	105,585,521 (GRCm39)	missense	possibly damaging	0.80
R3718:Pign	UTSW	1	105,577,006 (GRCm39)	critical splice donor site	probably null
R3970:Pign	UTSW	1	105,583,728 (GRCm39)	missense	probably damaging	1.00
R4067:Pign	UTSW	1	105,515,703 (GRCm39)	critical splice donor site	probably null
R4110:Pign	UTSW	1	105,481,540 (GRCm39)	unclassified	probably benign
R4387:Pign	UTSW	1	105,449,785 (GRCm39)	missense	possibly damaging	0.48
R4393:Pign	UTSW	1	105,449,751 (GRCm39)	missense	probably benign	0.00
R4472:Pign	UTSW	1	105,575,945 (GRCm39)	missense	probably benign	0.29
R4519:Pign	UTSW	1	105,525,391 (GRCm39)	critical splice donor site	probably null
R4619:Pign	UTSW	1	105,449,715 (GRCm39)	utr 3 prime	probably benign
R4746:Pign	UTSW	1	105,512,749 (GRCm39)	missense	probably benign	0.33
R4859:Pign	UTSW	1	105,575,892 (GRCm39)	nonsense	probably null
R4893:Pign	UTSW	1	105,574,436 (GRCm39)	missense	probably damaging	1.00
R4953:Pign	UTSW	1	105,572,227 (GRCm39)	missense	probably benign	0.32
R5046:Pign	UTSW	1	105,449,798 (GRCm39)	missense	possibly damaging	0.94
R5377:Pign	UTSW	1	105,585,537 (GRCm39)	missense	probably benign	0.12
R5388:Pign	UTSW	1	105,583,695 (GRCm39)	missense	probably damaging	1.00
R5482:Pign	UTSW	1	105,474,435 (GRCm39)	missense	probably benign	0.44
R5594:Pign	UTSW	1	105,574,594 (GRCm39)	intron	probably benign
R5639:Pign	UTSW	1	105,517,040 (GRCm39)	missense	probably benign	0.09
R5778:Pign	UTSW	1	105,519,447 (GRCm39)	missense	probably damaging	1.00
R5821:Pign	UTSW	1	105,516,788 (GRCm39)	missense	possibly damaging	0.95
R5928:Pign	UTSW	1	105,485,792 (GRCm39)	missense	possibly damaging	0.55
R5979:Pign	UTSW	1	105,516,999 (GRCm39)	missense	probably benign	0.01
R6213:Pign	UTSW	1	105,516,991 (GRCm39)	missense	possibly damaging	0.50
R6292:Pign	UTSW	1	105,512,802 (GRCm39)	missense	possibly damaging	0.69
R6343:Pign	UTSW	1	105,512,820 (GRCm39)	missense	probably benign	0.33
R6566:Pign	UTSW	1	105,565,906 (GRCm39)	critical splice donor site	probably null
R6856:Pign	UTSW	1	105,481,620 (GRCm39)	nonsense	probably null
R6954:Pign	UTSW	1	105,481,622 (GRCm39)	missense	probably benign	0.39
R7361:Pign	UTSW	1	105,512,778 (GRCm39)	missense	probably benign	0.01
R7582:Pign	UTSW	1	105,577,092 (GRCm39)	missense	probably benign	0.00
R7622:Pign	UTSW	1	105,575,842 (GRCm39)	missense	possibly damaging	0.65
R7742:Pign	UTSW	1	105,480,122 (GRCm39)	missense	probably benign
R7892:Pign	UTSW	1	105,585,401 (GRCm39)	missense	probably benign	0.01
R8273:Pign	UTSW	1	105,516,803 (GRCm39)	missense	probably benign	0.00
R8352:Pign	UTSW	1	105,575,917 (GRCm39)	missense	probably benign	0.35
R8452:Pign	UTSW	1	105,575,917 (GRCm39)	missense	probably benign	0.35
R8826:Pign	UTSW	1	105,481,827 (GRCm39)	missense	probably damaging	1.00
R8841:Pign	UTSW	1	105,485,634 (GRCm39)	intron	probably benign
R8886:Pign	UTSW	1	105,512,779 (GRCm39)	missense	probably benign
R8904:Pign	UTSW	1	105,519,359 (GRCm39)	missense	possibly damaging	0.87
R9074:Pign	UTSW	1	105,556,246 (GRCm39)	missense	unknown
R9197:Pign	UTSW	1	105,516,818 (GRCm39)	missense	probably benign	0.03
R9630:Pign	UTSW	1	105,481,591 (GRCm39)	missense	probably benign	0.23
R9702:Pign	UTSW	1	105,485,212 (GRCm39)	missense	probably damaging	1.00
X0025:Pign	UTSW	1	105,585,359 (GRCm39)	missense	probably benign	0.03
Z1177:Pign	UTSW	1	105,585,545 (GRCm39)	start codon destroyed	probably null	0.98

Predicted Primers

PCR Primer
(F):5'- ACTATTCCCTAAAGCCTGTTTCAG -3'
(R):5'- ACAAACTCCTTTAACCATTGAGCAG -3'

Sequencing Primer
(F):5'- GAAATAAAAACTTTGTGACACTAGGC -3'
(R):5'- CCAGATGAGTGCCTGATGCTCTAAG -3'

Posted On

2014-07-14