Incidental Mutation 'R7601:Pigh'
ID 588019
Institutional Source Beutler Lab
Gene Symbol Pigh
Ensembl Gene ENSMUSG00000021120
Gene Name phosphatidylinositol glycan anchor biosynthesis, class H
Synonyms A930028P05Rik, 2210416H01Rik
MMRRC Submission 045643-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7601 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 79127438-79136425 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 79132479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 111 (T111I)
Ref Sequence ENSEMBL: ENSMUSP00000072018 (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

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000072154
AA Change: T111I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072018
Gene: ENSMUSG00000021120
AA Change: T111I

DomainStartEndE-ValueType
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 probably damaging
Transcript: ENSMUST00000217998
AA Change: T111I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (40/41)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik A G 17: 36,206,741 (GRCm39) L16P probably damaging Het
Abcc5 A T 16: 20,193,882 (GRCm39) Y746* probably null Het
Abcd4 A G 12: 84,660,719 (GRCm39) Y129H possibly damaging Het
Acot10 T C 15: 20,665,715 (GRCm39) D342G probably damaging Het
Als2 G T 1: 59,209,161 (GRCm39) T1466K probably benign Het
Calcr A T 6: 3,687,603 (GRCm39) I465N probably benign Het
Ccndbp1 T C 2: 120,846,627 (GRCm39) S309P probably damaging Het
Cdh22 A G 2: 164,954,466 (GRCm39) L685P probably damaging Het
Cenps A G 4: 149,216,772 (GRCm39) V39A possibly damaging Het
Dbr1 G T 9: 99,464,655 (GRCm39) E145* probably null Het
Dync1i1 T A 6: 5,905,129 (GRCm39) V161E probably benign Het
Eeig2 T A 3: 108,895,628 (GRCm39) T151S possibly damaging Het
F10 A G 8: 13,100,781 (GRCm39) T232A probably benign Het
Faim2 C T 15: 99,398,147 (GRCm39) G279D probably damaging Het
Fam114a2 T C 11: 57,405,042 (GRCm39) K20R possibly damaging Het
Hspa4l T C 3: 40,738,788 (GRCm39) probably null Het
Impg2 A T 16: 56,080,394 (GRCm39) I733L probably benign Het
Itga11 T C 9: 62,604,208 (GRCm39) V32A probably benign Het
Lima1 G A 15: 99,717,577 (GRCm39) P143L probably benign Het
Lum A T 10: 97,404,168 (GRCm39) Y21F probably damaging Het
Muc6 A G 7: 141,216,454 (GRCm39) S2740P unknown Het
Nav1 A T 1: 135,388,176 (GRCm39) D1082E unknown Het
Nmur1 A C 1: 86,315,741 (GRCm39) C41W probably damaging Het
Or10ad1c G A 15: 98,084,860 (GRCm39) H273Y probably damaging Het
Or4k37 T C 2: 111,159,565 (GRCm39) V267A probably benign Het
Or5k3 A G 16: 58,969,597 (GRCm39) N128S probably benign Het
Or8b41 T C 9: 38,054,674 (GRCm39) V76A probably benign Het
Pdcd11 T C 19: 47,094,808 (GRCm39) S531P not run Het
Phtf1 T A 3: 103,901,161 (GRCm39) H403Q probably benign Het
Piezo1 C T 8: 123,210,220 (GRCm39) probably null Het
Plekhf1 T C 7: 37,921,304 (GRCm39) E88G probably damaging Het
Pnliprp1 C T 19: 58,720,526 (GRCm39) T134M probably damaging Het
Ptges T A 2: 30,782,809 (GRCm39) Y81F probably benign Het
Sema7a T C 9: 57,847,560 (GRCm39) S43P probably benign Het
Sephs2 A T 7: 126,872,118 (GRCm39) I325K probably damaging Het
Slc45a1 A T 4: 150,713,994 (GRCm39) N750K possibly damaging Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Tbc1d23 A T 16: 57,001,897 (GRCm39) M519K probably benign Het
Trdn A G 10: 33,072,152 (GRCm39) E273G probably benign Het
Ubtf G A 11: 102,197,480 (GRCm39) S724F unknown Het
Was GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC X: 7,952,450 (GRCm39) probably benign Het
Other mutations in Pigh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01571:Pigh APN 12 79,132,634 (GRCm39) splice site probably benign
R0207:Pigh UTSW 12 79,130,483 (GRCm39) unclassified probably benign
R7197:Pigh UTSW 12 79,130,463 (GRCm39) missense probably damaging 0.97
R7439:Pigh UTSW 12 79,136,324 (GRCm39) missense probably benign 0.22
Predicted Primers PCR Primer
(F):5'- AGTTCACAGGCATGCCAGTC -3'
(R):5'- GTGATCTTACTGCCTGCGTCTG -3'

Sequencing Primer
(F):5'- CTACTTGTATTGGAACAGAGGCACC -3'
(R):5'- GGCTCTCTCTTCAGAATAGCATGG -3'
Posted On 2019-10-24