Incidental Mutation 'R6106:Pigu'
ID 485493
Institutional Source Beutler Lab
Gene Symbol Pigu
Ensembl Gene ENSMUSG00000038383
Gene Name phosphatidylinositol glycan anchor biosynthesis, class U
Synonyms 5430426F17Rik, Cdc91l1
MMRRC Submission 044256-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6106 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 155120163-155199344 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 155139116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 313 (I313N)
Ref Sequence ENSEMBL: ENSMUSP00000076816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077626] [ENSMUST00000165234]
AlphaFold Q8K358
Predicted Effect possibly damaging
Transcript: ENSMUST00000077626
AA Change: I313N

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000076816
Gene: ENSMUSG00000038383
AA Change: I313N

DomainStartEndE-ValueType
Pfam:PIG-U 10 394 2.6e-119 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125334
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139854
Predicted Effect probably benign
Transcript: ENSMUST00000165234
AA Change: I312N

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000126236
Gene: ENSMUSG00000038383
AA Change: I312N

DomainStartEndE-ValueType
Pfam:PIG-U 10 393 1.7e-116 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
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 shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this gene is the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace A G 11: 105,879,838 (GRCm39) E726G probably damaging Het
Adgrl4 A G 3: 151,246,622 (GRCm39) I641V possibly damaging Het
Apoa5 A T 9: 46,181,931 (GRCm39) R336* probably null Het
Bfsp2 T A 9: 103,357,023 (GRCm39) T135S probably benign Het
Calhm2 A T 19: 47,121,501 (GRCm39) Y223N probably damaging Het
Ccdc158 T C 5: 92,775,325 (GRCm39) E960G probably benign Het
Ccdc80 T C 16: 44,917,073 (GRCm39) S610P probably benign Het
Cdon T A 9: 35,366,704 (GRCm39) Y193* probably null Het
Cept1 A T 3: 106,410,992 (GRCm39) H400Q probably benign Het
Cfap144 T C 11: 58,687,427 (GRCm39) E66G probably damaging Het
Clspn T A 4: 126,484,434 (GRCm39) N1197K probably benign Het
Cnot8 T C 11: 58,004,816 (GRCm39) S172P probably damaging Het
Col14a1 T C 15: 55,383,404 (GRCm39) I1794T probably damaging Het
Cracdl T C 1: 37,652,493 (GRCm39) T1105A possibly damaging Het
Fam193a A T 5: 34,616,374 (GRCm39) T564S possibly damaging Het
Galnt1 G A 18: 24,387,720 (GRCm39) V154I probably benign Het
Gstcd C A 3: 132,704,675 (GRCm39) E526D probably benign Het
Ighv1-42 A C 12: 114,900,907 (GRCm39) S59R probably benign Het
Morn3 A G 5: 123,184,823 (GRCm39) C6R possibly damaging Het
Nrdc A T 4: 108,901,782 (GRCm39) K617M probably damaging Het
Or2aj4 A G 16: 19,385,009 (GRCm39) L208P probably damaging Het
Or51ai2 A G 7: 103,587,400 (GRCm39) H271R probably benign Het
Or8b36 T A 9: 37,937,762 (GRCm39) I220N probably damaging Het
Or8b49 T C 9: 38,506,252 (GRCm39) M245T probably benign Het
Pcdhb11 A G 18: 37,556,056 (GRCm39) N462S probably damaging Het
Pfpl G T 19: 12,406,825 (GRCm39) D359Y probably damaging Het
Phyhip T C 14: 70,699,299 (GRCm39) V34A probably benign Het
Plch1 C T 3: 63,609,444 (GRCm39) R912H probably damaging Het
Psg16 T A 7: 16,829,091 (GRCm39) F225Y possibly damaging Het
Setdb2 T A 14: 59,660,898 (GRCm39) K82* probably null Het
Sgms1 A G 19: 32,101,825 (GRCm39) S394P possibly damaging Het
Slc16a1 T C 3: 104,560,310 (GRCm39) L205P probably benign Het
Slc19a1 T A 10: 76,880,603 (GRCm39) I380N probably damaging Het
Snx32 A G 19: 5,548,042 (GRCm39) I131T probably benign Het
Sorbs3 T C 14: 70,430,053 (GRCm39) probably null Het
Stc2 T A 11: 31,310,392 (GRCm39) I215L probably benign Het
Tln2 C T 9: 67,230,302 (GRCm39) A84T probably damaging Het
Tomm34 A G 2: 163,902,911 (GRCm39) M133T probably benign Het
Usp43 A G 11: 67,770,733 (GRCm39) S634P probably benign Het
Vmn2r59 T A 7: 41,661,749 (GRCm39) R689* probably null Het
Vmn2r9 C T 5: 108,992,902 (GRCm39) R536Q probably benign Het
Wdr24 C T 17: 26,043,579 (GRCm39) H134Y probably benign Het
Zfhx2 T A 14: 55,305,767 (GRCm39) probably null Het
Zfp1004 A G 2: 150,034,725 (GRCm39) K349E probably damaging Het
Zfp608 G T 18: 55,120,944 (GRCm39) H214Q possibly damaging Het
Zfp619 T C 7: 39,184,558 (GRCm39) V196A probably benign Het
Other mutations in Pigu
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02567:Pigu APN 2 155,173,112 (GRCm39) missense possibly damaging 0.70
IGL02833:Pigu APN 2 155,187,565 (GRCm39) splice site probably benign
IGL03213:Pigu APN 2 155,177,291 (GRCm39) missense probably damaging 1.00
R1645:Pigu UTSW 2 155,170,598 (GRCm39) nonsense probably null
R2426:Pigu UTSW 2 155,141,002 (GRCm39) missense probably damaging 1.00
R3816:Pigu UTSW 2 155,141,063 (GRCm39) missense probably damaging 1.00
R3879:Pigu UTSW 2 155,141,063 (GRCm39) missense probably damaging 1.00
R5017:Pigu UTSW 2 155,141,128 (GRCm39) splice site probably null
R5215:Pigu UTSW 2 155,177,249 (GRCm39) intron probably benign
R5557:Pigu UTSW 2 155,120,549 (GRCm39) nonsense probably null
R6718:Pigu UTSW 2 155,143,206 (GRCm39) missense possibly damaging 0.49
R7140:Pigu UTSW 2 155,143,160 (GRCm39) missense possibly damaging 0.78
R7358:Pigu UTSW 2 155,141,090 (GRCm39) missense probably damaging 1.00
R7467:Pigu UTSW 2 155,141,009 (GRCm39) missense probably damaging 1.00
R7503:Pigu UTSW 2 155,173,064 (GRCm39) splice site probably null
R7844:Pigu UTSW 2 155,134,640 (GRCm39) nonsense probably null
R9181:Pigu UTSW 2 155,141,109 (GRCm39) missense probably damaging 1.00
R9233:Pigu UTSW 2 155,178,610 (GRCm39) missense possibly damaging 0.76
R9312:Pigu UTSW 2 155,199,315 (GRCm39) start codon destroyed probably null
Z1177:Pigu UTSW 2 155,141,068 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACATGCATGCTTCAGTGGC -3'
(R):5'- TGAAGCCTGGCTCATGCATG -3'

Sequencing Primer
(F):5'- TGGGTGCCCAGTAAATGCATATC -3'
(R):5'- CTCATGCATGCCTTGTGAGTAGTAAG -3'
Posted On 2017-08-16