Incidental Mutation 'R4572:Pigg'
ID 342186
Institutional Source Beutler Lab
Gene Symbol Pigg
Ensembl Gene ENSMUSG00000029263
Gene Name phosphatidylinositol glycan anchor biosynthesis, class G
Synonyms Gpi7
MMRRC Submission 041796-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R4572 (G1)
Quality Score 174
Status Validated
Chromosome 5
Chromosomal Location 108460679-108497225 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108480751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 379 (M379V)
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: M504V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000031189
Gene: ENSMUSG00000029263
AA Change: M504V

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: M379V

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000112984
Gene: ENSMUSG00000029263
AA Change: M379V

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: M512V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000113818
Gene: ENSMUSG00000029263
AA Change: M512V

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
Meta Mutation Damage Score 0.1101 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (71/71)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,107,374 (GRCm39) I747N probably benign Het
Adamtsl2 A G 2: 26,973,268 (GRCm39) Y97C probably damaging Het
Alox12e A G 11: 70,212,007 (GRCm39) probably benign Het
Alpk2 A T 18: 65,414,075 (GRCm39) S2014T probably damaging Het
Ankrd36 A T 11: 5,639,340 (GRCm39) probably null Het
Apobec1 T C 6: 122,558,356 (GRCm39) D133G probably damaging Het
Arfgef1 A T 1: 10,283,366 (GRCm39) I181N probably damaging Het
Cilp2 A G 8: 70,335,060 (GRCm39) V646A probably damaging Het
Clasrp A G 7: 19,318,389 (GRCm39) probably null Het
Cnot2 T C 10: 116,330,751 (GRCm39) T423A probably benign Het
Crtap T C 9: 114,213,874 (GRCm39) D227G probably benign Het
Cyp17a1 A G 19: 46,658,990 (GRCm39) F217S probably damaging Het
Ddx60 A G 8: 62,440,455 (GRCm39) M1036V probably damaging Het
Dnah11 A T 12: 117,973,860 (GRCm39) I2818N probably benign Het
Dok6 T A 18: 89,492,071 (GRCm39) I169F possibly damaging Het
Duox2 T A 2: 122,112,207 (GRCm39) R1326S probably benign Het
Epha10 A G 4: 124,796,361 (GRCm39) T357A unknown Het
Ephb2 A C 4: 136,383,251 (GRCm39) F942C probably damaging Het
Fscn3 T A 6: 28,430,634 (GRCm39) probably null Het
Gabrb2 A G 11: 42,484,744 (GRCm39) N267S possibly damaging Het
Gabrr3 A T 16: 59,282,001 (GRCm39) Y452F probably benign Het
Gen1 A G 12: 11,292,419 (GRCm39) S457P probably damaging Het
Gm1993 C T X: 25,515,656 (GRCm39) R77H probably damaging Het
Gm5592 G A 7: 40,865,583 (GRCm39) probably benign Het
Hmbox1 A G 14: 65,140,682 (GRCm39) probably null Het
Hus1 A T 11: 8,957,617 (GRCm39) probably null Het
Ino80 G A 2: 119,232,839 (GRCm39) R1160W probably damaging Het
Kalrn A T 16: 34,212,412 (GRCm39) F27L probably damaging Het
Kri1 A T 9: 21,191,680 (GRCm39) F187L probably damaging Het
Lekr1 A T 3: 65,691,336 (GRCm39) noncoding transcript Het
Mapk15 T C 15: 75,870,599 (GRCm39) probably benign Het
Mrgpre G A 7: 143,334,841 (GRCm39) L221F probably damaging Het
Mrpl50 A T 4: 49,514,399 (GRCm39) S91T possibly damaging Het
Muc4 T C 16: 32,753,802 (GRCm38) I1226T probably benign Het
Mup15 A G 4: 61,356,454 (GRCm39) probably null Het
Ncapd3 A G 9: 27,005,911 (GRCm39) D1469G probably damaging Het
Nlrp9b G A 7: 19,760,606 (GRCm39) probably null Het
Npy6r A T 18: 44,408,984 (GRCm39) Y135F probably benign Het
Or7e170 A C 9: 19,795,275 (GRCm39) C109G probably benign Het
Phf14 G A 6: 12,006,823 (GRCm39) R825Q probably damaging Het
Plppr3 T A 10: 79,701,897 (GRCm39) Q315L probably benign Het
Plxnd1 C A 6: 115,932,717 (GRCm39) C1921F probably damaging Het
Ptger4 A C 15: 5,272,614 (GRCm39) S2A probably benign Het
Qrfprl A T 6: 65,431,975 (GRCm39) M293L probably benign Het
Rab4a A T 8: 124,560,799 (GRCm39) D196V probably benign Het
Rbck1 G A 2: 152,160,653 (GRCm39) Q428* probably null Het
Rgs14 A T 13: 55,527,875 (GRCm39) N266I probably damaging Het
Serpina1c A T 12: 103,864,967 (GRCm39) probably benign Het
Sesn3 G A 9: 14,232,516 (GRCm39) R263H probably benign Het
Slfn1 A T 11: 83,012,289 (GRCm39) D135V probably benign Het
Spata17 T C 1: 186,926,193 (GRCm39) K46E possibly damaging Het
Srcin1 A C 11: 97,425,760 (GRCm39) D432E probably damaging Het
Stxbp5 T C 10: 9,713,888 (GRCm39) E217G probably damaging Het
Terf2ip A G 8: 112,738,649 (GRCm39) D179G probably damaging Het
Tll1 A G 8: 64,509,343 (GRCm39) F556L possibly damaging Het
Tmed4 CTCTTTCT CTCT 11: 6,224,461 (GRCm39) probably null Het
Trappc9 G T 15: 72,808,916 (GRCm39) Q537K possibly damaging Het
Trim30a G T 7: 104,060,395 (GRCm39) C460* probably null Het
Trim35 T C 14: 66,545,322 (GRCm39) Y298H probably damaging Het
Ugt3a1 T A 15: 9,306,479 (GRCm39) H209Q probably benign Het
Ulk4 T C 9: 121,021,830 (GRCm39) K627R probably damaging Het
Wnk1 T C 6: 119,928,872 (GRCm39) T1319A possibly damaging Het
Wnt9b G A 11: 103,622,981 (GRCm39) R141C probably damaging Het
Zfp735 A G 11: 73,580,611 (GRCm39) M37V probably benign Het
Zmym1 A T 4: 126,944,628 (GRCm39) N186K probably benign 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
R0449:Pigg UTSW 5 108,484,277 (GRCm39) missense probably benign 0.00
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
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'- CATGTGCTGTGCAGAAAGGC -3'
(R):5'- AGGTCTTTCTCCTGCAGTCTATATG -3'

Sequencing Primer
(F):5'- AAAGGCTGAGCTGGATGTTCCTC -3'
(R):5'- GGTCTTTCAAAGCACTGCAG -3'
Posted On 2015-09-24