Incidental Mutation 'R5960:Pigg'
ID 471397
Institutional Source Beutler Lab
Gene Symbol Pigg
Ensembl Gene ENSMUSG00000029263
Gene Name phosphatidylinositol glycan anchor biosynthesis, class G
Synonyms Gpi7
MMRRC Submission 044147-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R5960 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 108460679-108497225 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108484160 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 469 (E469G)
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: E594G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031189
Gene: ENSMUSG00000029263
AA Change: E594G

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: E469G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000112984
Gene: ENSMUSG00000029263
AA Change: E469G

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: E602G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113818
Gene: ENSMUSG00000029263
AA Change: E602G

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 92.9%
Validation Efficiency 99% (71/72)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T C 3: 137,889,528 (GRCm39) T30A possibly damaging Het
Adat1 T C 8: 112,709,233 (GRCm39) M197V probably benign Het
Alcam T C 16: 52,115,489 (GRCm39) T210A probably benign Het
Ankfy1 T A 11: 72,648,178 (GRCm39) S886R possibly damaging Het
Aopep G A 13: 63,388,087 (GRCm39) R22Q probably damaging Het
Atg2a T G 19: 6,304,390 (GRCm39) F1136V probably damaging Het
Birc6 A T 17: 74,835,760 (GRCm39) T72S probably damaging Het
Caskin1 A G 17: 24,717,869 (GRCm39) T219A probably benign Het
Catsperg1 A G 7: 28,884,208 (GRCm39) probably benign Het
Cdh12 A G 15: 21,492,562 (GRCm39) probably null Het
Cfap126 A G 1: 170,952,882 (GRCm39) D45G probably damaging Het
Ciz1 C A 2: 32,261,228 (GRCm39) Q356K possibly damaging Het
Ckmt1 T A 2: 121,194,058 (GRCm39) I407N probably damaging Het
Csmd1 C T 8: 16,121,430 (GRCm39) E1756K possibly damaging Het
Cwf19l2 A G 9: 3,411,404 (GRCm39) K94E probably benign Het
Cyth1 A G 11: 118,023,193 (GRCm39) probably benign Het
Ddx25 A G 9: 35,465,807 (GRCm39) probably null Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dock3 C A 9: 106,788,554 (GRCm39) G138* probably null Het
Fam20a G A 11: 109,566,795 (GRCm39) probably benign Het
Fanci A G 7: 79,093,510 (GRCm39) T1006A probably damaging Het
Fat1 T C 8: 45,486,405 (GRCm39) Y3320H probably damaging Het
Fndc8 A G 11: 82,788,398 (GRCm39) D76G probably benign Het
Gm19965 T C 1: 116,749,201 (GRCm39) I294T possibly damaging Het
Gm9755 T G 8: 67,967,840 (GRCm39) noncoding transcript Het
Iars1 T C 13: 49,878,113 (GRCm39) V879A possibly damaging Het
Ifi209 A T 1: 173,466,382 (GRCm39) probably null Het
Itgb2l T C 16: 96,227,459 (GRCm39) H528R probably benign Het
Marf1 T C 16: 13,970,281 (GRCm39) Q146R probably damaging Het
Megf11 A G 9: 64,567,731 (GRCm39) T407A probably benign Het
Mtg1 T C 7: 139,726,906 (GRCm39) probably benign Het
Nhsl1 T G 10: 18,402,724 (GRCm39) S1317A probably benign Het
Nhsl3 A G 4: 129,115,865 (GRCm39) V933A probably damaging Het
Nudt16 A T 9: 105,008,698 (GRCm39) C63S possibly damaging Het
Nup107 T C 10: 117,625,915 (GRCm39) I49V probably null Het
Or51a24 G T 7: 103,733,560 (GRCm39) N242K probably damaging Het
Or5m13 T A 2: 85,749,069 (GRCm39) S267T probably benign Het
Orc1 T C 4: 108,463,495 (GRCm39) S671P possibly damaging Het
Paox A G 7: 139,712,402 (GRCm39) D211G probably benign Het
Pck2 A G 14: 55,786,004 (GRCm39) T571A possibly damaging Het
Pikfyve C A 1: 65,292,597 (GRCm39) Y1349* probably null Het
Prickle2 A G 6: 92,353,286 (GRCm39) F783L probably benign Het
Prpf40b G T 15: 99,212,785 (GRCm39) R627L probably damaging Het
Rasgrf1 A G 9: 89,903,437 (GRCm39) I1217V possibly damaging Het
Rbm26 A T 14: 105,387,751 (GRCm39) V457D probably damaging Het
Rex1bd C A 8: 70,959,156 (GRCm39) R49L probably null Het
Robo2 A T 16: 73,730,603 (GRCm39) L1003Q probably damaging Het
Sacs A G 14: 61,446,144 (GRCm39) D2730G probably benign Het
Setd6 T A 8: 96,442,827 (GRCm39) L88H probably damaging Het
Smim35 T C 9: 45,154,288 (GRCm39) Y50H probably damaging Het
Sncb A G 13: 54,910,795 (GRCm39) probably benign Het
Spata31e2 T A 1: 26,722,225 (GRCm39) H985L probably benign Het
Spmap2 T G 10: 79,421,765 (GRCm39) K151T possibly damaging Het
Stard9 A G 2: 120,530,442 (GRCm39) E2233G probably benign Het
Susd2 C T 10: 75,475,770 (GRCm39) V410I probably damaging Het
Synm A G 7: 67,385,494 (GRCm39) S281P probably damaging Het
Syvn1 C T 19: 6,100,598 (GRCm39) R330C probably damaging Het
Tiam2 A T 17: 3,488,915 (GRCm39) D741V probably benign Het
Tph1 A G 7: 46,311,429 (GRCm39) probably null Het
Trav7-5 T A 14: 53,768,706 (GRCm39) H91Q probably benign Het
Tymp A T 15: 89,260,778 (GRCm39) probably null Het
Usp45 A C 4: 21,810,797 (GRCm39) D331A 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
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
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
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'- CATTTCCTTCTGGCAGAATGC -3'
(R):5'- GGTCATGCTCACCTGGTAAG -3'

Sequencing Primer
(F):5'- TGATGCCAGCTCAGGGTG -3'
(R):5'- ACCCCTGTCTGGTTCAAGGAC -3'
Posted On 2017-03-31