Incidental Mutation 'R5017:Pigu'
ID 385604
Institutional Source Beutler Lab
Gene Symbol Pigu
Ensembl Gene ENSMUSG00000038383
Gene Name phosphatidylinositol glycan anchor biosynthesis, class U
Synonyms 5430426F17Rik, Cdc91l1
MMRRC Submission 042608-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5017 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 155120163-155199344 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 155141128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077626] [ENSMUST00000165234]
AlphaFold Q8K358
Predicted Effect probably null
Transcript: ENSMUST00000077626
SMART Domains Protein: ENSMUSP00000076816
Gene: ENSMUSG00000038383

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 null
Transcript: ENSMUST00000165234
SMART Domains Protein: ENSMUSP00000126236
Gene: ENSMUSG00000038383

DomainStartEndE-ValueType
Pfam:PIG-U 10 393 1.7e-116 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.1%
  • 3x: 97.0%
  • 10x: 94.3%
  • 20x: 87.9%
Validation Efficiency 96% (46/48)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 T C 14: 68,810,694 (GRCm39) D154G probably benign Het
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
Arhgef3 G T 14: 26,987,487 (GRCm39) R20L possibly damaging Het
Birc2 A T 9: 7,818,886 (GRCm39) C568* probably null Het
Bltp3a T A 17: 28,113,713 (GRCm39) L1295* probably null Het
Cep44 A G 8: 56,997,242 (GRCm39) S99P possibly damaging Het
Clstn2 A G 9: 97,365,139 (GRCm39) W456R probably damaging Het
Cog5 T A 12: 31,970,604 (GRCm39) S783T probably benign Het
Endod1 G A 9: 14,268,187 (GRCm39) R433* probably null Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Gdpd4 C A 7: 97,653,482 (GRCm39) Y498* probably null Het
Gm10722 T C 9: 3,000,937 (GRCm39) C6R probably benign Het
Hapln2 A G 3: 87,931,308 (GRCm39) V69A probably damaging Het
Ifit3 A C 19: 34,564,592 (GRCm39) N46T possibly damaging Het
Kcnh8 T C 17: 53,200,958 (GRCm39) L464S probably damaging Het
Lrrc9 C A 12: 72,553,099 (GRCm39) R1334S possibly damaging Het
Macf1 A G 4: 123,345,906 (GRCm39) F2631L probably damaging Het
Mafa T C 15: 75,619,338 (GRCm39) H145R probably benign Het
Muc6 T C 7: 141,226,795 (GRCm39) T1411A probably benign Het
Nos3 A G 5: 24,571,717 (GRCm39) probably benign Het
Nwd2 T A 5: 63,807,484 (GRCm39) probably benign Het
Or10g6 A T 9: 39,933,672 (GRCm39) probably benign Het
Or8a1b A T 9: 37,622,821 (GRCm39) Y251* probably null Het
Or8g20 A T 9: 39,396,051 (GRCm39) M166K possibly damaging Het
Pde11a A T 2: 75,966,711 (GRCm39) D579E probably benign Het
Phkb A T 8: 86,776,438 (GRCm39) H954L probably benign Het
Phldb3 C T 7: 24,319,521 (GRCm39) T353M probably damaging Het
Pla2r1 A G 2: 60,353,104 (GRCm39) probably null Het
Polr1c G T 17: 46,558,635 (GRCm39) probably benign Het
Setbp1 C A 18: 78,899,809 (GRCm39) G1286V possibly damaging Het
Siglecg T A 7: 43,060,810 (GRCm39) probably benign Het
Slc25a46 A T 18: 31,738,836 (GRCm39) H118Q probably damaging Het
Spata31h1 A T 10: 82,132,510 (GRCm39) F167I unknown Het
Sycp1 A T 3: 102,803,303 (GRCm39) probably null Het
Tmem132c A G 5: 127,640,414 (GRCm39) T862A probably benign Het
Tmem256 T C 11: 69,729,818 (GRCm39) probably benign Het
Tpr A T 1: 150,274,388 (GRCm39) E98D probably benign Het
Trdn A G 10: 33,344,155 (GRCm39) D623G probably benign Het
Trip11 T C 12: 101,812,879 (GRCm39) N1485S probably benign Het
Trpm1 T C 7: 63,894,580 (GRCm39) probably benign Het
Vmn1r227 T C 17: 20,956,340 (GRCm39) noncoding transcript Het
Xpo6 G A 7: 125,703,919 (GRCm39) A21V probably benign Het
Zfp276 A G 8: 123,991,716 (GRCm39) 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
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'- CTGATCAATGAAGCCAGAAGC -3'
(R):5'- ATCTTCAGCCCCGCATTTGG -3'

Sequencing Primer
(F):5'- GCTGCAGGCTTCACACTTAC -3'
(R):5'- AGCCCCGCATTTGGTAAATTATCTG -3'
Posted On 2016-05-10