Incidental Mutation 'IGL01485:Pigg'
ID |
88734 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pigg
|
Ensembl Gene |
ENSMUSG00000029263 |
Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class G |
Synonyms |
Gpi7 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
IGL01485
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
108460679-108497225 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 108484067 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 438
(V438A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112984
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031189]
[ENSMUST00000118910]
[ENSMUST00000119014]
|
AlphaFold |
D3Z3Y1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031189
AA Change: V563A
PolyPhen 2
Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000031189 Gene: ENSMUSG00000029263 AA Change: V563A
Domain | Start | End | E-Value | Type |
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 |
possibly damaging
Transcript: ENSMUST00000118910
AA Change: V438A
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000112984 Gene: ENSMUSG00000029263 AA Change: V438A
Domain | Start | End | E-Value | Type |
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 |
possibly damaging
Transcript: ENSMUST00000119014
AA Change: V571A
PolyPhen 2
Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000113818 Gene: ENSMUSG00000029263 AA Change: V571A
Domain | Start | End | E-Value | Type |
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 |
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930590J08Rik |
C |
T |
6: 91,927,003 (GRCm39) |
L888F |
probably damaging |
Het |
Aftph |
G |
T |
11: 20,642,507 (GRCm39) |
A842E |
probably damaging |
Het |
Ankrd13d |
A |
T |
19: 4,323,592 (GRCm39) |
M257K |
probably benign |
Het |
Anks1 |
T |
C |
17: 28,270,558 (GRCm39) |
F786L |
probably damaging |
Het |
Cd2ap |
A |
T |
17: 43,163,365 (GRCm39) |
I20N |
probably damaging |
Het |
Cdh20 |
C |
T |
1: 104,861,832 (GRCm39) |
T4M |
probably benign |
Het |
Dnah5 |
C |
T |
15: 28,331,872 (GRCm39) |
R2153C |
probably damaging |
Het |
Fap |
G |
A |
2: 62,374,655 (GRCm39) |
P248L |
possibly damaging |
Het |
Hps4 |
T |
A |
5: 112,512,377 (GRCm39) |
|
probably benign |
Het |
Igdcc4 |
C |
A |
9: 65,029,889 (GRCm39) |
T313K |
probably benign |
Het |
Klhl30 |
G |
A |
1: 91,281,761 (GRCm39) |
V121I |
probably damaging |
Het |
Ldb3 |
C |
A |
14: 34,264,519 (GRCm39) |
E526D |
probably damaging |
Het |
Ldc1 |
T |
A |
4: 130,109,218 (GRCm39) |
Y274F |
probably benign |
Het |
Lhfpl4 |
T |
A |
6: 113,171,082 (GRCm39) |
I35F |
probably benign |
Het |
Lpin1 |
A |
G |
12: 16,612,358 (GRCm39) |
|
probably benign |
Het |
Nek1 |
T |
A |
8: 61,502,860 (GRCm39) |
C436S |
probably benign |
Het |
Nek5 |
C |
A |
8: 22,573,385 (GRCm39) |
A524S |
probably benign |
Het |
Nkx2-3 |
C |
T |
19: 43,601,094 (GRCm39) |
T52M |
possibly damaging |
Het |
Or1e33 |
A |
G |
11: 73,738,036 (GRCm39) |
I305T |
probably benign |
Het |
Or2w2 |
A |
T |
13: 21,758,627 (GRCm39) |
|
probably null |
Het |
Or8b56 |
G |
A |
9: 38,739,895 (GRCm39) |
V303I |
possibly damaging |
Het |
Pappa |
T |
C |
4: 65,107,536 (GRCm39) |
V649A |
probably damaging |
Het |
Parp4 |
T |
A |
14: 56,859,661 (GRCm39) |
Y920N |
possibly damaging |
Het |
Pdgfra |
G |
A |
5: 75,324,313 (GRCm39) |
S56N |
probably benign |
Het |
Ptn |
A |
T |
6: 36,720,298 (GRCm39) |
C85S |
probably damaging |
Het |
Sh3rf1 |
A |
C |
8: 61,782,365 (GRCm39) |
E169A |
possibly damaging |
Het |
Slc30a10 |
T |
A |
1: 185,187,616 (GRCm39) |
V119E |
probably damaging |
Het |
Speg |
A |
G |
1: 75,364,471 (GRCm39) |
E178G |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,455,665 (GRCm39) |
Y3105C |
probably damaging |
Het |
Supt3 |
A |
G |
17: 45,430,045 (GRCm39) |
E366G |
possibly damaging |
Het |
Top2a |
A |
T |
11: 98,901,856 (GRCm39) |
L458Q |
probably damaging |
Het |
Ttc21b |
G |
A |
2: 66,082,234 (GRCm39) |
|
probably benign |
Het |
Usp24 |
T |
C |
4: 106,219,429 (GRCm39) |
F542L |
probably benign |
Het |
Vmn1r234 |
T |
A |
17: 21,449,171 (GRCm39) |
D28E |
possibly damaging |
Het |
|
Other mutations in Pigg |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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 |
|
Posted On |
2013-11-18 |