Incidental Mutation 'R0449:Pigg'
ID 39511
Institutional Source Beutler Lab
Gene Symbol Pigg
Ensembl Gene ENSMUSG00000029263
Gene Name phosphatidylinositol glycan anchor biosynthesis, class G
Synonyms Gpi7
MMRRC Submission 038649-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R0449 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 108460679-108497225 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108484277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 508 (V508A)
Ref Sequence ENSEMBL: ENSMUSP00000112984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031189] [ENSMUST00000118910] [ENSMUST00000119014]
AlphaFold D3Z3Y1
Predicted Effect probably benign
Transcript: ENSMUST00000031189
AA Change: V633A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031189
Gene: ENSMUSG00000029263
AA Change: V633A

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Phosphodiest 68 314 6.3e-15 PFAM
transmembrane domain 428 450 N/A INTRINSIC
transmembrane domain 463 482 N/A INTRINSIC
transmembrane domain 497 519 N/A INTRINSIC
transmembrane domain 540 562 N/A INTRINSIC
low complexity region 653 664 N/A INTRINSIC
transmembrane domain 688 705 N/A INTRINSIC
transmembrane domain 712 734 N/A INTRINSIC
transmembrane domain 749 766 N/A INTRINSIC
transmembrane domain 785 802 N/A INTRINSIC
transmembrane domain 876 898 N/A INTRINSIC
transmembrane domain 911 933 N/A INTRINSIC
transmembrane domain 948 967 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118910
AA Change: V508A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000112984
Gene: ENSMUSG00000029263
AA Change: V508A

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
SCOP:d1eqja2 127 202 8e-8 SMART
transmembrane domain 303 325 N/A INTRINSIC
transmembrane domain 338 357 N/A INTRINSIC
transmembrane domain 372 394 N/A INTRINSIC
transmembrane domain 415 437 N/A INTRINSIC
low complexity region 528 539 N/A INTRINSIC
transmembrane domain 563 580 N/A INTRINSIC
transmembrane domain 587 609 N/A INTRINSIC
transmembrane domain 624 641 N/A INTRINSIC
transmembrane domain 660 677 N/A INTRINSIC
transmembrane domain 751 773 N/A INTRINSIC
transmembrane domain 786 808 N/A INTRINSIC
transmembrane domain 823 842 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119014
AA Change: V641A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113818
Gene: ENSMUSG00000029263
AA Change: V641A

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Phosphodiest 164 286 2.2e-9 PFAM
transmembrane domain 436 458 N/A INTRINSIC
transmembrane domain 471 490 N/A INTRINSIC
transmembrane domain 505 527 N/A INTRINSIC
transmembrane domain 548 570 N/A INTRINSIC
low complexity region 661 672 N/A INTRINSIC
transmembrane domain 696 713 N/A INTRINSIC
transmembrane domain 720 742 N/A INTRINSIC
transmembrane domain 757 774 N/A INTRINSIC
transmembrane domain 793 810 N/A INTRINSIC
transmembrane domain 884 906 N/A INTRINSIC
transmembrane domain 919 941 N/A INTRINSIC
transmembrane domain 956 975 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,989,885 (GRCm39) R813* probably null Het
Accsl T A 2: 93,696,419 (GRCm39) I60F probably benign Het
Adam29 C T 8: 56,325,716 (GRCm39) G246D probably benign Het
Ankrd13c A G 3: 157,697,351 (GRCm39) I319V probably benign Het
Bag6 T G 17: 35,360,442 (GRCm39) V327G probably damaging Het
Barhl1 C T 2: 28,805,304 (GRCm39) A130T probably benign Het
Bend4 T C 5: 67,555,583 (GRCm39) D541G probably damaging Het
Birc6 A C 17: 74,999,290 (GRCm39) T4673P probably damaging Het
Ccdc81 T C 7: 89,539,679 (GRCm39) R186G probably damaging Het
Cdyl2 A G 8: 117,309,931 (GRCm39) F342L probably damaging Het
Chd3 C A 11: 69,248,367 (GRCm39) V748L probably damaging Het
CN725425 G T 15: 91,123,147 (GRCm39) R72I possibly damaging Het
Col22a1 A G 15: 71,834,520 (GRCm39) probably null Het
Cops3 A G 11: 59,709,243 (GRCm39) probably null Het
Ctnnd1 G T 2: 84,433,606 (GRCm39) Q940K possibly damaging Het
Dtnb C T 12: 3,641,971 (GRCm39) Q45* probably null Het
Efr3a T A 15: 65,714,553 (GRCm39) I280K probably damaging Het
Eml6 A C 11: 29,843,213 (GRCm39) V167G probably benign Het
Fam83c T A 2: 155,672,215 (GRCm39) M407L probably benign Het
Fasn T C 11: 120,701,894 (GRCm39) T1862A probably benign Het
Fbxl6 A G 15: 76,420,155 (GRCm39) I486T probably damaging Het
Gpr182 A G 10: 127,586,565 (GRCm39) Y129H probably damaging Het
Gpr75 A G 11: 30,842,456 (GRCm39) S454G probably damaging Het
Hectd4 G A 5: 121,502,653 (GRCm39) probably null Het
Hsf4 A G 8: 106,002,222 (GRCm39) T411A probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Il4 A T 11: 53,509,432 (GRCm39) M1K probably null Het
Ints11 G T 4: 155,972,405 (GRCm39) R463L probably benign Het
Ints4 G A 7: 97,178,430 (GRCm39) E677K probably damaging Het
Klk1b11 G A 7: 43,647,216 (GRCm39) C50Y probably damaging Het
Krt14 C A 11: 100,098,221 (GRCm39) G21C unknown Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
L3mbtl2 C T 15: 81,552,942 (GRCm39) A125V probably damaging Het
Lama3 A G 18: 12,633,569 (GRCm39) probably null Het
Lrrk2 T C 15: 91,634,478 (GRCm39) L1414P probably damaging Het
Matn2 T C 15: 34,428,687 (GRCm39) S684P probably damaging Het
Mga T A 2: 119,771,862 (GRCm39) V1574D probably damaging Het
Mia2 T C 12: 59,219,380 (GRCm39) probably null Het
Mrpl21 T A 19: 3,342,459 (GRCm39) probably benign Het
Msh5 T A 17: 35,260,458 (GRCm39) Q266L probably benign Het
Mybpc1 C A 10: 88,376,822 (GRCm39) C758F probably damaging Het
Myo15a G A 11: 60,400,422 (GRCm39) A2932T possibly damaging Het
Nbas T A 12: 13,569,109 (GRCm39) I2021K probably benign Het
Neurl4 T C 11: 69,796,393 (GRCm39) S424P probably damaging Het
Or10j5 T A 1: 172,784,965 (GRCm39) V201E probably damaging Het
Or2w3 A C 11: 58,556,789 (GRCm39) I135L probably benign Het
Or6c6 A G 10: 129,187,103 (GRCm39) M224V probably benign Het
Or7g17 T C 9: 18,767,945 (GRCm39) M8T probably benign Het
Or7g32 T A 9: 19,389,388 (GRCm39) I53F possibly damaging Het
Phlpp1 C T 1: 106,278,308 (GRCm39) R907W probably damaging Het
Pkhd1l1 T G 15: 44,364,915 (GRCm39) Y685D probably damaging Het
Polr3a A T 14: 24,534,534 (GRCm39) I34N probably damaging Het
Pramel17 T C 4: 101,694,158 (GRCm39) S242G probably benign Het
Prex1 A G 2: 166,411,297 (GRCm39) V1434A probably benign Het
Ptprh T A 7: 4,601,005 (GRCm39) D124V probably damaging Het
Rad54b T A 4: 11,606,131 (GRCm39) I513N probably benign Het
Rbm12b1 A G 4: 12,145,507 (GRCm39) N493S probably benign Het
Rfx7 A T 9: 72,517,586 (GRCm39) probably null Het
Serpini1 A G 3: 75,520,648 (GRCm39) K82E probably benign Het
Slc27a6 T G 18: 58,742,237 (GRCm39) probably null Het
Slc35f2 G T 9: 53,724,201 (GRCm39) L358F probably damaging Het
Slc45a1 A C 4: 150,727,762 (GRCm39) I158M probably damaging Het
Slurp2 G A 15: 74,614,955 (GRCm39) P62L probably damaging Het
Sspo C T 6: 48,443,674 (GRCm39) H1949Y probably damaging Het
Tiam1 A T 16: 89,634,715 (GRCm39) V865E possibly damaging Het
Tlr4 A C 4: 66,757,857 (GRCm39) I217L probably damaging Het
Top1 C T 2: 160,554,628 (GRCm39) R460* probably null Het
Trpm3 T A 19: 22,965,418 (GRCm39) S1638T probably benign Het
Tubgcp5 C T 7: 55,473,315 (GRCm39) R798C probably benign Het
Vars1 T G 17: 35,231,703 (GRCm39) probably null Het
Xylt2 A G 11: 94,557,159 (GRCm39) Y111H probably benign Het
Zbed5 G A 5: 129,930,567 (GRCm39) G172D probably damaging Het
Zfp53 C T 17: 21,729,095 (GRCm39) T376I probably benign Het
Zfp937 G T 2: 150,081,466 (GRCm39) V499L probably benign Het
Zyx T A 6: 42,328,247 (GRCm39) L152Q probably damaging Het
Other mutations in Pigg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00987:Pigg APN 5 108,489,944 (GRCm39) missense probably damaging 1.00
IGL01308:Pigg APN 5 108,484,343 (GRCm39) missense probably damaging 1.00
IGL01485:Pigg APN 5 108,484,067 (GRCm39) missense possibly damaging 0.90
IGL02043:Pigg APN 5 108,492,190 (GRCm39) missense probably damaging 1.00
IGL02104:Pigg APN 5 108,489,963 (GRCm39) missense probably damaging 1.00
IGL02238:Pigg APN 5 108,466,794 (GRCm39) missense possibly damaging 0.64
IGL02311:Pigg APN 5 108,484,246 (GRCm39) missense probably benign
IGL02608:Pigg APN 5 108,460,869 (GRCm39) missense probably damaging 0.98
IGL03338:Pigg APN 5 108,467,816 (GRCm39) missense probably damaging 1.00
P0033:Pigg UTSW 5 108,489,944 (GRCm39) missense probably damaging 1.00
R0082:Pigg UTSW 5 108,460,751 (GRCm39) start gained probably benign
R0616:Pigg UTSW 5 108,461,951 (GRCm39) missense probably damaging 1.00
R1246:Pigg UTSW 5 108,489,686 (GRCm39) missense probably damaging 0.99
R1368:Pigg UTSW 5 108,465,154 (GRCm39) missense probably damaging 1.00
R1777:Pigg UTSW 5 108,465,257 (GRCm39) missense probably damaging 1.00
R1898:Pigg UTSW 5 108,484,408 (GRCm39) missense probably benign
R2022:Pigg UTSW 5 108,460,788 (GRCm39) start gained probably benign
R2037:Pigg UTSW 5 108,486,518 (GRCm39) missense probably damaging 1.00
R2157:Pigg UTSW 5 108,466,755 (GRCm39) missense probably damaging 1.00
R2181:Pigg UTSW 5 108,484,366 (GRCm39) missense probably damaging 0.96
R2291:Pigg UTSW 5 108,480,783 (GRCm39) missense probably damaging 0.97
R3157:Pigg UTSW 5 108,462,014 (GRCm39) missense probably damaging 1.00
R4117:Pigg UTSW 5 108,495,908 (GRCm39) missense probably benign 0.15
R4572:Pigg UTSW 5 108,480,751 (GRCm39) missense probably benign 0.27
R4589:Pigg UTSW 5 108,480,556 (GRCm39) missense probably benign
R5019:Pigg UTSW 5 108,480,015 (GRCm39) missense probably damaging 1.00
R5094:Pigg UTSW 5 108,484,123 (GRCm39) missense possibly damaging 0.90
R5329:Pigg UTSW 5 108,462,026 (GRCm39) missense probably damaging 0.99
R5960:Pigg UTSW 5 108,484,160 (GRCm39) missense probably benign 0.01
R5976:Pigg UTSW 5 108,480,057 (GRCm39) missense probably null 1.00
R6089:Pigg UTSW 5 108,489,788 (GRCm39) missense probably benign
R6797:Pigg UTSW 5 108,480,694 (GRCm39) missense probably damaging 0.99
R6960:Pigg UTSW 5 108,474,707 (GRCm39) missense probably damaging 0.98
R7090:Pigg UTSW 5 108,484,378 (GRCm39) missense possibly damaging 0.92
R7659:Pigg UTSW 5 108,486,485 (GRCm39) missense probably benign 0.03
R7660:Pigg UTSW 5 108,486,485 (GRCm39) missense probably benign 0.03
R7661:Pigg UTSW 5 108,486,485 (GRCm39) missense probably benign 0.03
R7732:Pigg UTSW 5 108,466,841 (GRCm39) missense probably benign 0.00
R7749:Pigg UTSW 5 108,484,162 (GRCm39) missense probably benign
R7765:Pigg UTSW 5 108,461,920 (GRCm39) missense probably benign 0.00
R8021:Pigg UTSW 5 108,467,805 (GRCm39) missense probably damaging 1.00
R8268:Pigg UTSW 5 108,486,509 (GRCm39) missense probably damaging 0.99
R8320:Pigg UTSW 5 108,495,717 (GRCm39) missense probably benign
R8545:Pigg UTSW 5 108,489,726 (GRCm39) missense probably damaging 1.00
R8943:Pigg UTSW 5 108,484,066 (GRCm39) missense probably damaging 0.99
R9502:Pigg UTSW 5 108,495,782 (GRCm39) missense
R9720:Pigg UTSW 5 108,467,800 (GRCm39) nonsense probably null
R9722:Pigg UTSW 5 108,495,767 (GRCm39) missense possibly damaging 0.70
Predicted Primers PCR Primer
(F):5'- CCTCCACAGTAGGCAGTTTGGATG -3'
(R):5'- CACCTGGTAAGCCAGTGGCTAAAG -3'

Sequencing Primer
(F):5'- AGAGCACCAGACGTGGTATTTTC -3'
(R):5'- CTAAAGTCGGGGCGATGC -3'
Posted On 2013-05-23