Mutagenetix > Incidental Mutation

Incidental Mutation 'R5979:Pign'

481281

Institutional Source

Beutler Lab

Gene Symbol

Pign

Ensembl Gene

ENSMUSG00000056536

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class N

Synonyms

MMRRC Submission

044161-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.839) question?

Stock #

R5979 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105518422-105663677 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 105589274 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 542 (S542R)

Ref Sequence

ENSEMBL: ENSMUSP00000140844 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000070699
AA Change: S542R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000069969
Gene: ENSMUSG00000056536
AA Change: S542R

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

probably benign
Transcript: ENSMUST00000186485
AA Change: S542R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000139638
Gene: ENSMUSG00000056536
AA Change: S542R

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: S542R

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000140020
Gene: ENSMUSG00000056536
AA Change: S542R

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: S542R

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000140844
Gene: ENSMUSG00000056536
AA Change: S542R

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

0.1054

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.4%

Validation Efficiency

100% (87/87)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,522,109	I103V	possibly damaging	Het
Adam3	T	C	8: 24,677,367	N36S	probably benign	Het
Adamts3	A	G	5: 89,861,669	V45A	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Agtpbp1	A	T	13: 59,534,046	L69*	probably null	Het
Alkbh5	T	A	11: 60,538,691	I90N	probably damaging	Het
Alx1	T	C	10: 103,022,259	Y193C	probably damaging	Het
Ankrd11	T	G	8: 122,892,400	D1571A	probably damaging	Het
Brd4	T	C	17: 32,198,726	D124G	probably benign	Het
C2cd2	G	A	16: 97,875,218	T443I	probably benign	Het
Casp8	A	T	1: 58,828,912	M171L	probably benign	Het
Cd200r4	G	A	16: 44,832,932	V22I	probably benign	Het
Cdcp2	A	G	4: 107,105,281	Y217C	probably damaging	Het
Cfh	C	A	1: 140,118,671	V556F	possibly damaging	Het
Chka	T	G	19: 3,884,513	I182M	probably damaging	Het
Cope	T	C	8: 70,302,543		probably null	Het
Coq10b	T	C	1: 55,052,918	V15A	probably benign	Het
Cpne9	T	A	6: 113,293,749	S309T	probably benign	Het
Daam2	T	A	17: 49,459,204	H992L	possibly damaging	Het
Dctn3	T	C	4: 41,715,393		probably null	Het
Dhx35	G	T	2: 158,842,869	R536L	probably benign	Het
Dnah8	G	T	17: 30,815,664	E4186*	probably null	Het
Dnah9	A	G	11: 65,834,481	L4282P	probably damaging	Het
Dpp10	A	G	1: 123,384,283		probably null	Het
Dst	T	A	1: 34,160,372		probably benign	Het
Ehbp1	C	A	11: 22,151,887	V214L	probably benign	Het
Fam131b	T	C	6: 42,321,971	D25G	probably damaging	Het
Fbxl13	T	A	5: 21,582,091	I283F	probably damaging	Het
Gabrr3	T	G	16: 59,434,568	N205K	possibly damaging	Het
Got1l1	C	T	8: 27,197,923		probably null	Het
Gprin1	G	A	13: 54,739,978	A161V	probably benign	Het
Hepacam2	A	T	6: 3,476,149	F183I	probably damaging	Het
Hmx2	A	G	7: 131,554,550	T82A	probably benign	Het
Igsf10	C	T	3: 59,336,473	E147K	probably damaging	Het
Kndc1	G	A	7: 139,939,827	A1700T	probably benign	Het
Knl1	T	C	2: 119,069,360	V514A	possibly damaging	Het
Lama2	T	C	10: 27,235,732	D764G	probably damaging	Het
Lgi3	G	A	14: 70,536,460	R358H	probably damaging	Het
Limd1	G	T	9: 123,479,414	Q59H	possibly damaging	Het
Lrrk2	A	G	15: 91,772,945	Y1814C	possibly damaging	Het
Lysmd3	G	A	13: 81,665,274		probably null	Het
Mroh7	T	C	4: 106,720,926	N185S	probably benign	Het
Muc2	A	G	7: 141,697,250		probably null	Het
Muc2	G	A	7: 141,751,406	G149D	probably damaging	Het
Nlrp3	T	C	11: 59,548,971	F458S	probably benign	Het
Nop58	A	T	1: 59,702,831	D173V	probably damaging	Het
Nrxn1	C	T	17: 91,088,203	R175H	possibly damaging	Het
Nxpe4	A	G	9: 48,396,562	N322S	probably benign	Het
Ocstamp	A	G	2: 165,397,547	S240P	probably damaging	Het
Olfr137	T	C	17: 38,305,192	K90E	probably benign	Het
Olfr311	A	G	11: 58,841,840	H242R	probably damaging	Het
Olfr713	G	A	7: 107,036,336	M60I	probably damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Ovch2	G	A	7: 107,794,388	T177I	possibly damaging	Het
Parn	A	C	16: 13,606,171	L454R	probably damaging	Het
Pcdhb12	T	A	18: 37,437,991	L730Q	possibly damaging	Het
Phf3	G	T	1: 30,805,746	F1377L	probably damaging	Het
Prex2	G	T	1: 11,132,372	V502F	probably damaging	Het
Psmd1	A	T	1: 86,090,053	I529F	possibly damaging	Het
Ptafr	A	G	4: 132,579,305	E2G	probably benign	Het
R3hdm1	A	G	1: 128,211,223	N380S	probably benign	Het
Rbm12	A	C	2: 156,097,759		probably benign	Het
Rgl1	A	G	1: 152,557,493	Y174H	probably damaging	Het
Rps6kc1	A	G	1: 190,800,435	S457P	probably damaging	Het
Sall4	A	T	2: 168,750,343	S964T	probably benign	Het
Sart1	T	A	19: 5,381,223	I681F	probably damaging	Het
Serinc5	T	C	13: 92,661,136	L49P	probably benign	Het
Serpinb9e	T	C	13: 33,255,053	V154A	probably benign	Het
Skiv2l	A	T	17: 34,841,463	N851K	probably benign	Het
Smox	G	A	2: 131,516,414	V136I	probably damaging	Het
Sspo	C	T	6: 48,463,693	T1747I	probably benign	Het
Swt1	A	T	1: 151,407,588	D339E	possibly damaging	Het
Synpo2	A	G	3: 123,117,411	L195P	probably damaging	Het
Syt7	G	T	19: 10,443,479	G414W	probably damaging	Het
Tmem186	G	A	16: 8,636,160	T79I	probably damaging	Het
Tmem39a	A	T	16: 38,575,744	N113I	probably damaging	Het
Trim14	C	T	4: 46,507,239	V326M	probably damaging	Het
Trim58	A	G	11: 58,646,083	E234G	probably damaging	Het
Ttr	T	C	18: 20,670,002	L75P	probably damaging	Het
Ubr1	C	T	2: 120,946,382	V293I	probably benign	Het
Vmn1r91	T	A	7: 20,102,065	V303E	probably benign	Het
Vmn2r30	A	C	7: 7,312,335	I833S	probably damaging	Het
Zfp131	G	T	13: 119,776,446	N125K	probably benign	Het
Zfp169	A	T	13: 48,491,040		probably benign	Het
Zfp213	C	A	17: 23,557,911	E386*	probably null	Het

Other mutations in Pign

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Pign	APN	1	105597723	nonsense	probably null
IGL00770:Pign	APN	1	105597756	missense	probably benign	0.00
IGL00774:Pign	APN	1	105597756	missense	probably benign	0.00
IGL00828:Pign	APN	1	105554120	missense	probably damaging	0.97
IGL01407:Pign	APN	1	105589302	missense	probably benign	0.06
IGL01523:Pign	APN	1	105653178	missense	probably damaging	0.98
IGL01953:Pign	APN	1	105589039	splice site	probably benign
IGL02389:Pign	APN	1	105646781	nonsense	probably null
PIT4810001:Pign	UTSW	1	105597762	missense	possibly damaging	0.83
R0080:Pign	UTSW	1	105552405	missense	probably damaging	1.00
R0097:Pign	UTSW	1	105587976	splice site	probably benign
R0302:Pign	UTSW	1	105589093	missense	possibly damaging	0.83
R0573:Pign	UTSW	1	105653177	missense	probably damaging	1.00
R0580:Pign	UTSW	1	105591694	missense	probably benign	0.03
R0946:Pign	UTSW	1	105591697	missense	probably benign	0.00
R1397:Pign	UTSW	1	105657771	missense	probably damaging	1.00
R1462:Pign	UTSW	1	105585002	missense	possibly damaging	0.95
R1462:Pign	UTSW	1	105585002	missense	possibly damaging	0.95
R1751:Pign	UTSW	1	105653192	missense	probably benign	0.19
R1753:Pign	UTSW	1	105589317	missense	possibly damaging	0.65
R1767:Pign	UTSW	1	105653192	missense	probably benign	0.19
R1854:Pign	UTSW	1	105554498	missense	probably damaging	0.99
R1907:Pign	UTSW	1	105638215	missense	possibly damaging	0.50
R2845:Pign	UTSW	1	105657796	missense	possibly damaging	0.80
R2846:Pign	UTSW	1	105657796	missense	possibly damaging	0.80
R3718:Pign	UTSW	1	105649281	critical splice donor site	probably null
R3970:Pign	UTSW	1	105656003	missense	probably damaging	1.00
R4067:Pign	UTSW	1	105587978	critical splice donor site	probably null
R4110:Pign	UTSW	1	105553815	unclassified	probably benign
R4387:Pign	UTSW	1	105522060	missense	possibly damaging	0.48
R4393:Pign	UTSW	1	105522026	missense	probably benign	0.00
R4472:Pign	UTSW	1	105648220	missense	probably benign	0.29
R4519:Pign	UTSW	1	105597666	critical splice donor site	probably null
R4619:Pign	UTSW	1	105521990	utr 3 prime	probably benign
R4746:Pign	UTSW	1	105585024	missense	probably benign	0.33
R4859:Pign	UTSW	1	105648167	nonsense	probably null
R4893:Pign	UTSW	1	105646711	missense	probably damaging	1.00
R4953:Pign	UTSW	1	105644502	missense	probably benign	0.32
R5046:Pign	UTSW	1	105522073	missense	possibly damaging	0.94
R5377:Pign	UTSW	1	105657812	missense	probably benign	0.12
R5388:Pign	UTSW	1	105655970	missense	probably damaging	1.00
R5482:Pign	UTSW	1	105546710	missense	probably benign	0.44
R5594:Pign	UTSW	1	105646869	intron	probably benign
R5639:Pign	UTSW	1	105589315	missense	probably benign	0.09
R5778:Pign	UTSW	1	105591722	missense	probably damaging	1.00
R5821:Pign	UTSW	1	105589063	missense	possibly damaging	0.95
R5928:Pign	UTSW	1	105558067	missense	possibly damaging	0.55
R6213:Pign	UTSW	1	105589266	missense	possibly damaging	0.50
R6292:Pign	UTSW	1	105585077	missense	possibly damaging	0.69
R6343:Pign	UTSW	1	105585095	missense	probably benign	0.33
R6566:Pign	UTSW	1	105638181	critical splice donor site	probably null
R6856:Pign	UTSW	1	105553895	nonsense	probably null
R6954:Pign	UTSW	1	105553897	missense	probably benign	0.39
R7361:Pign	UTSW	1	105585053	missense	probably benign	0.01
R7582:Pign	UTSW	1	105649367	missense	probably benign	0.00
R7622:Pign	UTSW	1	105648117	missense	possibly damaging	0.65
R7742:Pign	UTSW	1	105552397	missense	probably benign
R7892:Pign	UTSW	1	105657676	missense	probably benign	0.01
R8273:Pign	UTSW	1	105589078	missense	probably benign	0.00
R8352:Pign	UTSW	1	105648192	missense	probably benign	0.35
R8452:Pign	UTSW	1	105648192	missense	probably benign	0.35
R8826:Pign	UTSW	1	105554102	missense	probably damaging	1.00
R8841:Pign	UTSW	1	105557909	intron	probably benign
R8886:Pign	UTSW	1	105585054	missense	probably benign
R8904:Pign	UTSW	1	105591634	missense	possibly damaging	0.87
R9074:Pign	UTSW	1	105628521	missense	unknown
R9197:Pign	UTSW	1	105589093	missense	probably benign	0.03
R9630:Pign	UTSW	1	105553866	missense	probably benign	0.23
R9702:Pign	UTSW	1	105557487	missense	probably damaging	1.00
X0025:Pign	UTSW	1	105657634	missense	probably benign	0.03
Z1177:Pign	UTSW	1	105657820	start codon destroyed	probably null	0.98

Predicted Primers

PCR Primer
(F):5'- GTCCCGCTGTCAACATGTAG -3'
(R):5'- AGCTTTTGGTATAGCTCAGAGG -3'

Sequencing Primer
(F):5'- CGCTGTCAACATGTAGCGGTAG -3'
(R):5'- GCCATTAAAACACATTGCTACAAC -3'

Posted On

2017-06-26