Incidental Mutation 'R3879:Pigu'
ID 308666
Institutional Source Beutler Lab
Gene Symbol Pigu
Ensembl Gene ENSMUSG00000038383
Gene Name phosphatidylinositol glycan anchor biosynthesis, class U
Synonyms 5430426F17Rik, Cdc91l1
MMRRC Submission 040793-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3879 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 155120163-155199344 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 155141063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 276 (F276I)
Ref Sequence ENSEMBL: ENSMUSP00000126236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077626] [ENSMUST00000165234]
AlphaFold Q8K358
Predicted Effect probably damaging
Transcript: ENSMUST00000077626
AA Change: F277I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000076816
Gene: ENSMUSG00000038383
AA Change: F277I

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 damaging
Transcript: ENSMUST00000165234
AA Change: F276I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126236
Gene: ENSMUSG00000038383
AA Change: F276I

DomainStartEndE-ValueType
Pfam:PIG-U 10 393 1.7e-116 PFAM
Meta Mutation Damage Score 0.5836 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 95% (38/40)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik T C 3: 89,970,561 (GRCm39) probably benign Het
Aass G A 6: 23,122,520 (GRCm39) H68Y probably damaging Het
Abcc8 T A 7: 45,754,051 (GRCm39) K1588N possibly damaging Het
Calcoco1 T C 15: 102,615,823 (GRCm39) D601G probably damaging Het
Ccdc175 C A 12: 72,182,792 (GRCm39) R409I probably damaging Het
Ccnl1 A G 3: 65,856,179 (GRCm39) V242A possibly damaging Het
Clasp2 T C 9: 113,719,029 (GRCm39) F705L probably damaging Het
Cyp46a1 A G 12: 108,324,389 (GRCm39) T389A probably benign Het
Eps8 A G 6: 137,504,360 (GRCm39) probably benign Het
Gm9894 T C 13: 67,912,916 (GRCm39) noncoding transcript Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Nup153 A T 13: 46,837,436 (GRCm39) V1262E probably damaging Het
Nup210l A G 3: 90,092,780 (GRCm39) T1245A probably damaging Het
Or10ad1b C T 15: 98,125,085 (GRCm39) C147Y probably damaging Het
Or5b121 A G 19: 13,507,613 (GRCm39) Y236C probably damaging Het
Pcif1 G A 2: 164,727,878 (GRCm39) G189D probably benign Het
Pdzd2 A G 15: 12,375,594 (GRCm39) S1514P probably damaging Het
Pramex1 T C X: 134,514,194 (GRCm39) H365R probably benign Het
Psmd9 C T 5: 123,372,653 (GRCm39) probably benign Het
Rasgrp2 A T 19: 6,463,920 (GRCm39) Q539H probably benign Het
Rgs22 T G 15: 36,107,051 (GRCm39) I112L possibly damaging Het
Slc26a9 A T 1: 131,696,969 (GRCm39) T786S probably benign Het
Sned1 A G 1: 93,192,752 (GRCm39) probably benign Het
St7l G A 3: 104,833,763 (GRCm39) V475I probably damaging Het
Tnfrsf11a C T 1: 105,737,085 (GRCm39) T64I probably damaging Het
Top3a A G 11: 60,634,765 (GRCm39) V713A possibly damaging Het
Trim16 G A 11: 62,731,433 (GRCm39) G348S probably damaging Het
Tshz3 C T 7: 36,470,962 (GRCm39) Q984* probably null Het
Ttn A G 2: 76,566,406 (GRCm39) probably null Het
Ubfd1 T A 7: 121,667,999 (GRCm39) probably benign Het
Zfp37 A T 4: 62,109,572 (GRCm39) Y497* probably null Het
Zfp462 G A 4: 55,060,095 (GRCm39) C1207Y probably damaging Het
Zfp607b A G 7: 27,403,476 (GRCm39) E644G possibly damaging 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
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
R6106:Pigu UTSW 2 155,139,116 (GRCm39) missense possibly damaging 0.67
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'- CTCAACTGCTGACCTGATCAATG -3'
(R):5'- ACTTTTAAAGGGACGGCGCC -3'

Sequencing Primer
(F):5'- TGCTGACCTGATCAATGAAGCC -3'
(R):5'- CATCCTTGGTCACCTAGTACTGG -3'
Posted On 2015-04-17