Mutagenetix > Incidental Mutation

Incidental Mutation 'R1691:Pigm'

191759

Institutional Source

Beutler Lab

Gene Symbol

Pigm

Ensembl Gene

ENSMUSG00000050229

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class M

Synonyms

C920011G20Rik, 4933437L05Rik

MMRRC Submission

039724-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1691 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

172204113-172211666 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 172204354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 30 (V30A)

Ref Sequence

ENSEMBL: ENSMUSP00000052838 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052455] [ENSMUST00000056136]

AlphaFold

Q8C2R7

Predicted Effect

probably benign
Transcript: ENSMUST00000052455
AA Change: V30A

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000052838
Gene: ENSMUSG00000050229
AA Change: V30A

Domain	Start	End	E-Value	Type
Pfam:PIG-U	24	411	7.4e-18	PFAM
Pfam:Mannosyl_trans	140	408	9.8e-113	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056136

SMART Domains

Protein: ENSMUSP00000054356
Gene: ENSMUSG00000044708

Domain	Start	End	E-Value	Type
Pfam:IRK	31	363	2.2e-136	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI)-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a mannosyltransferase, GPI-MT-I, that transfers the first mannose to GPI on the lumenal side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	T	C	7: 82,148,814 (GRCm39)	S283P	probably damaging	Het
Adck2	T	A	6: 39,551,902 (GRCm39)	L223*	probably null	Het
Ank	T	C	15: 27,591,030 (GRCm39)	W390R	probably damaging	Het
Ano5	T	C	7: 51,240,327 (GRCm39)	Y752H	probably damaging	Het
Apcs	T	A	1: 172,722,160 (GRCm39)	D62V	probably damaging	Het
Atad5	A	G	11: 79,986,358 (GRCm39)	T482A	probably benign	Het
Atp7b	A	G	8: 22,501,039 (GRCm39)	Y955H	possibly damaging	Het
Ccdc13	A	T	9: 121,654,134 (GRCm39)		probably null	Het
Ccdc157	G	A	11: 4,099,030 (GRCm39)	P159S	probably benign	Het
Cdhr3	C	T	12: 33,132,246 (GRCm39)	V126M	probably damaging	Het
Cdr1	T	C	X: 60,227,780 (GRCm39)	D462G	possibly damaging	Het
Cisd1	A	G	10: 71,180,559 (GRCm39)	V9A	probably benign	Het
Col19a1	T	C	1: 24,576,022 (GRCm39)	R107G	unknown	Het
Col1a2	C	A	6: 4,536,038 (GRCm39)	H972Q	unknown	Het
Col3a1	T	A	1: 45,387,776 (GRCm39)		probably benign	Het
Dbnl	A	G	11: 5,747,174 (GRCm39)	S235G	probably null	Het
Dock4	T	A	12: 40,775,754 (GRCm39)	S566T	probably benign	Het
Efcab6	T	C	15: 83,817,407 (GRCm39)	D722G	probably benign	Het
Esyt1	T	C	10: 128,361,403 (GRCm39)	Q97R	probably benign	Het
Fat2	G	A	11: 55,202,678 (GRCm39)	T132I	probably damaging	Het
Fgd2	C	T	17: 29,597,918 (GRCm39)	Q618*	probably null	Het
Flnc	T	A	6: 29,441,213 (GRCm39)	V389E	probably benign	Het
Garnl3	A	T	2: 32,887,675 (GRCm39)	Y778*	probably null	Het
Gpaa1	A	T	15: 76,216,416 (GRCm39)	Y45F	probably damaging	Het
Grid1	A	T	14: 35,174,286 (GRCm39)	I643F	probably damaging	Het
Gsdmc2	T	C	15: 63,705,314 (GRCm39)	D133G	probably damaging	Het
Hp	T	C	8: 110,302,204 (GRCm39)	D248G	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ifna13	T	C	4: 88,562,291 (GRCm39)	D111G	probably benign	Het
Il9r	T	A	11: 32,141,829 (GRCm39)	Q309L	possibly damaging	Het
Insyn2a	C	T	7: 134,520,015 (GRCm39)	A172T	probably damaging	Het
Ints1	A	T	5: 139,754,687 (GRCm39)	D617E	probably damaging	Het
Kcnj12	A	T	11: 60,961,103 (GRCm39)	N467I	possibly damaging	Het
Kmt2e	T	A	5: 23,669,847 (GRCm39)	D111E	probably damaging	Het
Lama4	A	G	10: 38,956,559 (GRCm39)	K1161E	probably benign	Het
Lamc1	C	T	1: 153,122,995 (GRCm39)	D732N	probably benign	Het
Larp1	A	G	11: 57,938,874 (GRCm39)	T517A	probably benign	Het
Lrp12	A	G	15: 39,735,661 (GRCm39)	I757T	probably damaging	Het
Max	T	C	12: 77,000,046 (GRCm39)	D23G	possibly damaging	Het
Nars1	A	T	18: 64,649,485 (GRCm39)		probably null	Het
Nipsnap3a	G	A	4: 52,994,185 (GRCm39)	D91N	probably null	Het
Nphp3	A	G	9: 103,880,010 (GRCm39)	T11A	probably benign	Het
Nr2c2	C	A	6: 92,133,673 (GRCm39)	T226K	probably damaging	Het
Nrxn1	A	G	17: 90,469,717 (GRCm39)	I1288T	probably damaging	Het
Nt5c1b	C	T	12: 10,425,537 (GRCm39)	T360I	possibly damaging	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Or10a3b	A	G	7: 108,444,348 (GRCm39)	Y290H	possibly damaging	Het
Or13a21	A	T	7: 139,998,855 (GRCm39)	L277Q	probably damaging	Het
Or4e1	A	T	14: 52,701,288 (GRCm39)	H59Q	possibly damaging	Het
Or4k37	G	A	2: 111,159,198 (GRCm39)	V145I	probably benign	Het
Or6d14	A	G	6: 116,533,538 (GRCm39)	T51A	probably benign	Het
Or9i1b	C	T	19: 13,896,783 (GRCm39)	T133I	probably benign	Het
Pcsk1	A	G	13: 75,280,344 (GRCm39)	D723G	possibly damaging	Het
Phrf1	C	A	7: 140,841,787 (GRCm39)	Y715*	probably null	Het
Pkd1l2	A	T	8: 117,783,158 (GRCm39)	F721I	possibly damaging	Het
Pla2g15	A	G	8: 106,881,581 (GRCm39)	D70G	possibly damaging	Het
Prl7d1	A	T	13: 27,893,365 (GRCm39)	I182N	probably damaging	Het
Prss23	T	C	7: 89,159,922 (GRCm39)	K49R	probably benign	Het
Rps6	A	T	4: 86,775,046 (GRCm39)	D19E	probably benign	Het
Slco6d1	A	T	1: 98,435,292 (GRCm39)	H669L	probably benign	Het
Svil	G	T	18: 5,056,336 (GRCm39)	C490F	probably benign	Het
Tom1	T	C	8: 75,778,227 (GRCm39)	I103T	probably damaging	Het
Trim10	T	A	17: 37,187,791 (GRCm39)	Y336N	probably damaging	Het
Trim43c	G	T	9: 88,722,752 (GRCm39)	V133F	probably damaging	Het
Tvp23a	A	G	16: 10,246,551 (GRCm39)	L78P	possibly damaging	Het
Ugt2b38	T	A	5: 87,571,991 (GRCm39)	I14L	probably benign	Het
Unc5a	A	C	13: 55,150,737 (GRCm39)	M520L	probably damaging	Het
Vmn1r174	T	A	7: 23,453,337 (GRCm39)	M1K	probably null	Het
Vmn2r58	C	T	7: 41,486,913 (GRCm39)	G661R	possibly damaging	Het
Vps41	A	C	13: 19,025,413 (GRCm39)	D471A	probably damaging	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp462	T	A	4: 55,013,489 (GRCm39)	F1818L	possibly damaging	Het
Zp3	G	A	5: 136,009,135 (GRCm39)	E50K	possibly damaging	Het

Other mutations in Pigm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01800:Pigm	APN	1	172,204,770 (GRCm39)	missense	probably damaging	0.99
IGL02055:Pigm	APN	1	172,204,732 (GRCm39)	missense	probably benign
IGL02129:Pigm	APN	1	172,205,434 (GRCm39)	nonsense	probably null
IGL02888:Pigm	APN	1	172,205,214 (GRCm39)	missense	probably damaging	1.00
IGL03280:Pigm	APN	1	172,204,420 (GRCm39)	missense	probably damaging	1.00
R0725:Pigm	UTSW	1	172,204,384 (GRCm39)	missense	probably damaging	1.00
R1371:Pigm	UTSW	1	172,204,381 (GRCm39)	missense	probably damaging	1.00
R1991:Pigm	UTSW	1	172,204,828 (GRCm39)	missense	probably damaging	1.00
R2089:Pigm	UTSW	1	172,205,100 (GRCm39)	missense	probably damaging	1.00
R2091:Pigm	UTSW	1	172,205,100 (GRCm39)	missense	probably damaging	1.00
R2091:Pigm	UTSW	1	172,205,100 (GRCm39)	missense	probably damaging	1.00
R5718:Pigm	UTSW	1	172,205,012 (GRCm39)	splice site	probably null
R6640:Pigm	UTSW	1	172,205,254 (GRCm39)	missense	probably damaging	1.00
R7070:Pigm	UTSW	1	172,205,233 (GRCm39)	missense	probably damaging	0.98
R8273:Pigm	UTSW	1	172,205,524 (GRCm39)	missense	probably benign	0.27
R8883:Pigm	UTSW	1	172,205,085 (GRCm39)	missense	probably damaging	1.00
X0003:Pigm	UTSW	1	172,204,303 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AATCCCGAGGAAGGCAATCGTTC -3'
(R):5'- GAAGAGTTCGCTGAGGTAGACGTTG -3'

Sequencing Primer
(F):5'- TAGCAGAGGAGATGCTCCC -3'
(R):5'- AGGTAGACGTTGGGGGTGAG -3'

Posted On

2014-05-14