Incidental Mutation 'IGL01725:Pigc'
ID 105253
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pigc
Ensembl Gene ENSMUSG00000026698
Gene Name phosphatidylinositol glycan anchor biosynthesis, class C
Synonyms 3110030E07Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01725
Quality Score
Status
Chromosome 1
Chromosomal Location 161796755-161801004 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to A at 161798914 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141646 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028021] [ENSMUST00000111594] [ENSMUST00000159648] [ENSMUST00000160881] [ENSMUST00000162676] [ENSMUST00000193784]
AlphaFold Q9CXR4
Predicted Effect probably benign
Transcript: ENSMUST00000028021
SMART Domains Protein: ENSMUSP00000028021
Gene: ENSMUSG00000026698

DomainStartEndE-ValueType
Pfam:GPI2 14 284 6.2e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111594
SMART Domains Protein: ENSMUSP00000107221
Gene: ENSMUSG00000026698

DomainStartEndE-ValueType
Pfam:GPI2 14 284 1.7e-94 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141397
Predicted Effect probably benign
Transcript: ENSMUST00000159648
Predicted Effect probably benign
Transcript: ENSMUST00000160881
SMART Domains Protein: ENSMUSP00000125321
Gene: ENSMUSG00000026698

DomainStartEndE-ValueType
Pfam:GPI2 14 140 2.8e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161826
Predicted Effect probably benign
Transcript: ENSMUST00000162676
SMART Domains Protein: ENSMUSP00000124751
Gene: ENSMUSG00000086277

DomainStartEndE-ValueType
Pfam:DUF4548 17 181 1.9e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193784
SMART Domains Protein: ENSMUSP00000141646
Gene: ENSMUSG00000026698

DomainStartEndE-ValueType
Pfam:GPI2 14 284 1.7e-94 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. The encoded protein is one subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. Two alternatively spliced transcripts that encode the same protein have been found for this gene. A pseudogene on chromosome 11 has also been characterized. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,853,767 (GRCm39) I297F probably damaging Het
Abcc4 A T 14: 118,738,241 (GRCm39) L1170I probably damaging Het
Ankhd1 A G 18: 36,781,206 (GRCm39) D2086G probably benign Het
Arhgap11a A T 2: 113,667,897 (GRCm39) V368D probably damaging Het
Ccdc138 A G 10: 58,364,745 (GRCm39) T334A possibly damaging Het
Ctnna2 T C 6: 77,618,348 (GRCm39) R205G possibly damaging Het
Galnt4 A G 10: 98,945,819 (GRCm39) M515V probably damaging Het
Grhl1 T C 12: 24,659,747 (GRCm39) probably benign Het
Hfm1 T C 5: 107,065,245 (GRCm39) T145A probably benign Het
Kntc1 G A 5: 123,902,253 (GRCm39) V299I probably benign Het
Lin28a G A 4: 133,735,241 (GRCm39) R52* probably null Het
Mast4 A T 13: 102,887,020 (GRCm39) probably null Het
Nme4 G A 17: 26,311,040 (GRCm39) A175V probably benign Het
Or1e1c A T 11: 73,265,982 (GRCm39) M136L probably benign Het
Or51ah3 T A 7: 103,210,282 (GRCm39) Y199* probably null Het
Pi16 T A 17: 29,545,294 (GRCm39) S186T probably damaging Het
Rapgef4 A T 2: 72,005,218 (GRCm39) I222L probably benign Het
Scap T A 9: 110,210,622 (GRCm39) probably benign Het
Sec24a A C 11: 51,614,405 (GRCm39) probably null Het
Sh3tc1 T C 5: 35,857,660 (GRCm39) E1176G probably benign Het
Sidt1 A T 16: 44,104,645 (GRCm39) D255E probably benign Het
Slc16a9 T C 10: 70,119,815 (GRCm39) M486T probably benign Het
Slc28a3 A G 13: 58,726,324 (GRCm39) F155S probably benign Het
Slc5a4a T C 10: 76,017,508 (GRCm39) V435A probably benign Het
Stxbp5 T C 10: 9,693,155 (GRCm39) R324G probably damaging Het
Tas2r120 C T 6: 132,634,052 (GRCm39) R45* probably null Het
Tfcp2l1 T C 1: 118,596,366 (GRCm39) V367A possibly damaging Het
Vmn2r116 A T 17: 23,605,619 (GRCm39) D177V probably damaging Het
Vmn2r70 A G 7: 85,208,594 (GRCm39) S628P probably damaging Het
Other mutations in Pigc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02009:Pigc APN 1 161,798,134 (GRCm39) missense possibly damaging 0.95
IGL02586:Pigc APN 1 161,798,503 (GRCm39) missense probably benign 0.02
IGL03095:Pigc APN 1 161,798,345 (GRCm39) missense possibly damaging 0.79
IGL03109:Pigc APN 1 161,798,345 (GRCm39) missense possibly damaging 0.79
apocryphon UTSW 1 161,798,663 (GRCm39) missense probably benign 0.21
pistis UTSW 1 161,798,516 (GRCm39) missense probably damaging 0.99
R6228_Pigc_444 UTSW 1 161,798,036 (GRCm39) missense probably benign 0.03
R0321:Pigc UTSW 1 161,798,668 (GRCm39) nonsense probably null
R1450:Pigc UTSW 1 161,798,822 (GRCm39) missense probably benign 0.01
R1708:Pigc UTSW 1 161,798,293 (GRCm39) missense probably benign 0.00
R1857:Pigc UTSW 1 161,798,446 (GRCm39) missense possibly damaging 0.90
R1875:Pigc UTSW 1 161,798,516 (GRCm39) missense probably damaging 0.99
R2371:Pigc UTSW 1 161,798,579 (GRCm39) missense possibly damaging 0.72
R2940:Pigc UTSW 1 161,798,239 (GRCm39) missense possibly damaging 0.96
R3706:Pigc UTSW 1 161,798,663 (GRCm39) missense probably benign 0.21
R3707:Pigc UTSW 1 161,798,663 (GRCm39) missense probably benign 0.21
R3708:Pigc UTSW 1 161,798,663 (GRCm39) missense probably benign 0.21
R3725:Pigc UTSW 1 161,798,860 (GRCm39) missense possibly damaging 0.95
R5193:Pigc UTSW 1 161,798,465 (GRCm39) missense possibly damaging 0.91
R5682:Pigc UTSW 1 161,798,516 (GRCm39) missense probably damaging 0.99
R6228:Pigc UTSW 1 161,798,036 (GRCm39) missense probably benign 0.03
R7143:Pigc UTSW 1 161,798,161 (GRCm39) missense probably damaging 1.00
R7509:Pigc UTSW 1 161,798,545 (GRCm39) missense probably benign 0.06
R7829:Pigc UTSW 1 161,798,033 (GRCm39) missense probably benign
R8030:Pigc UTSW 1 161,798,116 (GRCm39) missense probably damaging 1.00
R8135:Pigc UTSW 1 161,798,134 (GRCm39) missense possibly damaging 0.95
R9109:Pigc UTSW 1 161,798,032 (GRCm39) missense probably benign 0.01
R9298:Pigc UTSW 1 161,798,032 (GRCm39) missense probably benign 0.01
R9703:Pigc UTSW 1 161,798,176 (GRCm39) missense probably benign 0.02
Posted On 2014-01-21