Incidental Mutation 'IGL01571:Pigh'
ID 93316
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pigh
Ensembl Gene ENSMUSG00000021120
Gene Name phosphatidylinositol glycan anchor biosynthesis, class H
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01571
Quality Score
Chromosome 12
Chromosomal Location 79080664-79089651 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to C at 79085860 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039928] [ENSMUST00000072154] [ENSMUST00000217998]
AlphaFold Q5M9N4
Predicted Effect probably benign
Transcript: ENSMUST00000039928
SMART Domains Protein: ENSMUSP00000049460
Gene: ENSMUSG00000060716

coiled coil region 26 172 N/A INTRINSIC
low complexity region 363 379 N/A INTRINSIC
low complexity region 489 500 N/A INTRINSIC
PH 573 668 1.15e-22 SMART
PH 682 792 3.23e-8 SMART
MyTH4 826 980 3e-48 SMART
B41 987 1224 6.07e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000072154
SMART Domains Protein: ENSMUSP00000072018
Gene: ENSMUSG00000021120

transmembrane domain 36 58 N/A INTRINSIC
transmembrane domain 63 83 N/A INTRINSIC
Pfam:PIG-H 89 158 6.7e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217979
Predicted Effect probably benign
Transcript: ENSMUST00000217998
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219946
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220031
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)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. The protein encoded by this gene is a subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 T A 9: 21,539,081 probably benign Het
Cep164 T C 9: 45,794,338 Q127R possibly damaging Het
Ces1f T A 8: 93,258,368 M444L probably benign Het
Chd5 T A 4: 152,384,115 probably benign Het
Cpd T A 11: 76,782,296 Y1341F probably damaging Het
Cryz T C 3: 154,621,743 I268T probably damaging Het
Csnk2a1 G A 2: 152,275,406 R278H probably damaging Het
Cyp4a12b A G 4: 115,438,157 I487V probably benign Het
Dnajb5 T C 4: 42,956,516 probably benign Het
Dxo A T 17: 34,839,040 H214L probably damaging Het
Etfb T C 7: 43,452,959 probably null Het
G6pc2 G A 2: 69,222,967 V122I probably damaging Het
Gm5431 A T 11: 48,894,713 D278E probably benign Het
Gstt2 C T 10: 75,834,171 probably benign Het
Hnf4g A C 3: 3,651,266 probably benign Het
Ifi44 T C 3: 151,745,537 D259G probably damaging Het
Klk1 T C 7: 44,228,596 V92A probably damaging Het
Lypla1 T C 1: 4,844,988 I222T probably benign Het
Nbeal2 T C 9: 110,632,758 N1510D possibly damaging Het
Ndufaf7 A G 17: 78,943,852 R229G probably damaging Het
Nphp4 G A 4: 152,556,382 V1069M probably benign Het
Nsd2 A G 5: 33,864,687 H528R probably benign Het
Olfr1298 C A 2: 111,645,380 V206L probably benign Het
Olfr1355 A G 10: 78,879,837 I222V possibly damaging Het
Olfr763 A T 10: 129,011,827 I181F probably damaging Het
Prr14l A T 5: 32,828,806 M1115K probably benign Het
Psg21 T C 7: 18,654,825 D114G probably damaging Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Pygb T C 2: 150,830,473 S831P probably benign Het
Ryr2 T A 13: 11,721,761 D2260V probably damaging Het
Sgo2a T C 1: 58,017,974 S1106P probably damaging Het
Slc5a5 G A 8: 70,891,332 probably benign Het
Tekt4 A G 17: 25,476,384 D397G probably benign Het
Trrap T A 5: 144,833,287 probably benign Het
Upf2 T C 2: 6,018,939 probably benign Het
Usp17lb A T 7: 104,840,381 N445K possibly damaging Het
Vmn2r111 A G 17: 22,571,392 V211A probably damaging Het
Vmn2r23 A G 6: 123,704,407 I91M probably damaging Het
Vps13b C T 15: 35,877,489 probably benign Het
Zc3hc1 G A 6: 30,390,863 T47I probably benign Het
Other mutations in Pigh
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0207:Pigh UTSW 12 79083709 unclassified probably benign
R7197:Pigh UTSW 12 79083689 missense probably damaging 0.97
R7439:Pigh UTSW 12 79089550 missense probably benign 0.22
R7601:Pigh UTSW 12 79085705 missense probably damaging 1.00
Posted On 2013-12-09