Incidental Mutation 'IGL03012:Pgap1'
ID407822
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pgap1
Ensembl Gene ENSMUSG00000073678
Gene Namepost-GPI attachment to proteins 1
SynonymsPGAP1, D230012E17Rik, oto, 5033403E17Rik, 9030223K07Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.830) question?
Stock #IGL03012
Quality Score
Status
Chromosome1
Chromosomal Location54472994-54557684 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 54533413 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000095346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097739]
Predicted Effect probably benign
Transcript: ENSMUST00000097739
SMART Domains Protein: ENSMUSP00000095346
Gene: ENSMUSG00000073678

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:PGAP1 82 302 7.2e-83 PFAM
transmembrane domain 597 619 N/A INTRINSIC
transmembrane domain 678 700 N/A INTRINSIC
transmembrane domain 737 759 N/A INTRINSIC
transmembrane domain 819 838 N/A INTRINSIC
low complexity region 854 866 N/A INTRINSIC
low complexity region 871 884 N/A INTRINSIC
transmembrane domain 902 921 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185817
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187949
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene functions early in the glycosylphosphatidylinositol (GPI) biosynthetic pathway, catalyzing the inositol deacylation of GPI. The encoded protein is required for the production of GPI that can attach to proteins, and this may be an important factor in the transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi. Defects in this gene are a cause of mental retardation, autosomal recessive 42. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mutations in this gene result in a variety of forebrain, eye, jaw, craniofacial, ear, and vertebra defects that are background sensitive. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b A C 9: 119,156,946 S17A probably benign Het
Acp1 T G 12: 30,895,949 N135T probably benign Het
Adamts2 A G 11: 50,776,269 probably benign Het
Arfgef2 C T 2: 166,868,888 probably benign Het
Atp10b T A 11: 43,194,655 I287N probably damaging Het
Camta1 T A 4: 151,453,299 K141N probably damaging Het
Carmil1 T C 13: 24,036,372 D719G probably benign Het
Cntnap5c T A 17: 58,359,234 H1086Q probably benign Het
Dsg3 A G 18: 20,537,243 probably null Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
G6pd2 A G 5: 61,809,473 Y197C probably damaging Het
Il13ra1 G T X: 36,130,594 probably benign Het
Ivl G A 3: 92,572,426 P111S probably benign Het
Kmt2a T C 9: 44,810,966 probably benign Het
Lztr1 T C 16: 17,521,484 S57P possibly damaging Het
Mtss1 T G 15: 59,058,400 D32A probably damaging Het
Mylk G A 16: 34,952,781 D1250N probably benign Het
Ncln A G 10: 81,489,965 F349L probably benign Het
Rarres2 T C 6: 48,570,305 D107G probably benign Het
Ric3 T C 7: 109,038,718 D276G probably benign Het
Trim54 A G 5: 31,137,145 D339G probably benign Het
Trip11 G A 12: 101,883,936 H1005Y probably damaging Het
Tulp4 G T 17: 6,213,379 probably benign Het
Unc93a C T 17: 13,109,608 E453K probably benign Het
Vmn1r181 A T 7: 23,984,602 D164V probably damaging Het
Vmn1r78 T A 7: 12,153,364 S301T probably benign Het
Vmn1r85 T C 7: 13,084,765 N151D probably benign Het
Wnk2 T C 13: 49,044,389 K2008E probably damaging Het
Wrap73 A G 4: 154,145,234 probably benign Het
Zfp408 G A 2: 91,647,808 A41V probably benign Het
Zfp472 A G 17: 32,977,571 S207G probably benign Het
Other mutations in Pgap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00846:Pgap1 APN 1 54492021 splice site probably benign
IGL01111:Pgap1 APN 1 54530943 missense probably benign 0.17
IGL01406:Pgap1 APN 1 54533414 splice site probably null
IGL01592:Pgap1 APN 1 54521311 missense probably damaging 1.00
IGL02005:Pgap1 APN 1 54551055 missense probably damaging 0.99
IGL02026:Pgap1 APN 1 54494819 missense probably benign 0.05
IGL02086:Pgap1 APN 1 54547988 missense probably damaging 1.00
IGL02354:Pgap1 APN 1 54512816 missense probably benign 0.02
IGL02361:Pgap1 APN 1 54512816 missense probably benign 0.02
IGL02995:Pgap1 APN 1 54493350 missense probably benign 0.19
R0044:Pgap1 UTSW 1 54493368 missense probably damaging 1.00
R0109:Pgap1 UTSW 1 54494825 missense probably damaging 1.00
R0109:Pgap1 UTSW 1 54494825 missense probably damaging 1.00
R0241:Pgap1 UTSW 1 54535951 splice site probably null
R0241:Pgap1 UTSW 1 54535951 splice site probably null
R0352:Pgap1 UTSW 1 54486458 splice site probably benign
R1297:Pgap1 UTSW 1 54528523 missense possibly damaging 0.94
R1429:Pgap1 UTSW 1 54494861 missense probably benign 0.01
R1465:Pgap1 UTSW 1 54528555 missense probably benign 0.11
R1465:Pgap1 UTSW 1 54528555 missense probably benign 0.11
R1542:Pgap1 UTSW 1 54492090 missense probably benign 0.16
R1816:Pgap1 UTSW 1 54492057 missense probably damaging 0.99
R1817:Pgap1 UTSW 1 54535969 missense probably benign 0.15
R1905:Pgap1 UTSW 1 54511961 missense probably benign 0.26
R2006:Pgap1 UTSW 1 54551061 missense possibly damaging 0.76
R3551:Pgap1 UTSW 1 54530143 missense possibly damaging 0.89
R3833:Pgap1 UTSW 1 54557465 missense probably damaging 0.99
R3901:Pgap1 UTSW 1 54493348 missense probably benign
R4487:Pgap1 UTSW 1 54528592 missense probably benign 0.26
R4874:Pgap1 UTSW 1 54530137 missense probably damaging 0.96
R5184:Pgap1 UTSW 1 54481856 missense probably damaging 1.00
R6181:Pgap1 UTSW 1 54512777 missense probably benign 0.05
R6212:Pgap1 UTSW 1 54514893 missense probably damaging 0.99
R6269:Pgap1 UTSW 1 54548008 nonsense probably null
R6525:Pgap1 UTSW 1 54481889 missense probably benign 0.00
R6944:Pgap1 UTSW 1 54530161 missense probably damaging 1.00
R7214:Pgap1 UTSW 1 54543061 missense possibly damaging 0.47
R7256:Pgap1 UTSW 1 54493207 critical splice donor site probably null
R7290:Pgap1 UTSW 1 54548066 missense possibly damaging 0.45
R7356:Pgap1 UTSW 1 54530134 missense probably benign 0.10
R7525:Pgap1 UTSW 1 54530922 missense probably benign 0.26
R7602:Pgap1 UTSW 1 54543186 missense probably damaging 1.00
R7897:Pgap1 UTSW 1 54551008 missense probably damaging 1.00
R8278:Pgap1 UTSW 1 54490271 missense probably benign
X0025:Pgap1 UTSW 1 54481870 missense probably benign 0.26
X0060:Pgap1 UTSW 1 54536034 missense probably damaging 1.00
Posted On2016-08-02