Incidental Mutation 'R0082:Pigg'
ID |
98730 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pigg
|
Ensembl Gene |
ENSMUSG00000029263 |
Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class G |
Synonyms |
Gpi7 |
MMRRC Submission |
038369-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R0082 (G1)
|
Quality Score |
137 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
108460679-108497225 bp(+) (GRCm39) |
Type of Mutation |
start gained |
DNA Base Change (assembly) |
A to G
at 108460751 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113818
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031189]
[ENSMUST00000118910]
[ENSMUST00000119014]
|
AlphaFold |
D3Z3Y1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031189
|
SMART Domains |
Protein: ENSMUSP00000031189 Gene: ENSMUSG00000029263
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 |
probably benign
Transcript: ENSMUST00000118910
|
SMART Domains |
Protein: ENSMUSP00000112984 Gene: ENSMUSG00000029263
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 |
probably benign
Transcript: ENSMUST00000119014
|
SMART Domains |
Protein: ENSMUSP00000113818 Gene: ENSMUSG00000029263
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199082
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.3%
- 10x: 91.7%
- 20x: 73.7%
|
Validation Efficiency |
94% (136/144) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam17 |
A |
C |
12: 21,379,049 (GRCm39) |
|
probably benign |
Het |
Adcy1 |
T |
C |
11: 7,099,497 (GRCm39) |
|
probably benign |
Het |
Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
Ankrd33b |
T |
C |
15: 31,297,935 (GRCm39) |
N274S |
probably benign |
Het |
Antkmt |
T |
C |
17: 26,010,548 (GRCm39) |
I89V |
probably benign |
Het |
Arhgef1 |
C |
T |
7: 24,612,030 (GRCm39) |
Q100* |
probably null |
Het |
Ccdc180 |
A |
G |
4: 45,896,205 (GRCm39) |
D118G |
probably null |
Het |
Cdh23 |
T |
C |
10: 60,148,366 (GRCm39) |
D2667G |
probably damaging |
Het |
Cdh4 |
A |
T |
2: 179,535,981 (GRCm39) |
N844I |
possibly damaging |
Het |
Cep57 |
T |
C |
9: 13,722,172 (GRCm39) |
|
probably benign |
Het |
Dnah7a |
A |
T |
1: 53,557,867 (GRCm39) |
D2182E |
probably damaging |
Het |
Dync1h1 |
A |
G |
12: 110,602,880 (GRCm39) |
T2174A |
probably benign |
Het |
Eef1akmt2 |
T |
A |
7: 132,453,201 (GRCm39) |
R44* |
probably null |
Het |
Evpl |
T |
A |
11: 116,125,829 (GRCm39) |
I43F |
probably damaging |
Het |
F13a1 |
G |
T |
13: 37,172,927 (GRCm39) |
P151Q |
probably damaging |
Het |
Galnt5 |
A |
T |
2: 57,889,047 (GRCm39) |
I216F |
possibly damaging |
Het |
Glt6d1 |
C |
A |
2: 25,684,739 (GRCm39) |
|
probably null |
Het |
Gpr139 |
T |
A |
7: 118,744,268 (GRCm39) |
T106S |
probably benign |
Het |
Hoatz |
T |
C |
9: 51,013,102 (GRCm39) |
T57A |
probably benign |
Het |
Hoxb3 |
A |
G |
11: 96,235,097 (GRCm39) |
D8G |
probably damaging |
Het |
Hpse |
T |
C |
5: 100,840,128 (GRCm39) |
K330E |
possibly damaging |
Het |
Kcmf1 |
G |
T |
6: 72,827,470 (GRCm39) |
|
probably null |
Het |
Klra2 |
T |
C |
6: 131,197,210 (GRCm39) |
N263S |
possibly damaging |
Het |
Klra8 |
T |
C |
6: 130,102,018 (GRCm39) |
D139G |
probably benign |
Het |
Lrrc46 |
A |
C |
11: 96,931,903 (GRCm39) |
|
probably benign |
Het |
Ly86 |
A |
T |
13: 37,602,513 (GRCm39) |
|
probably null |
Het |
Mmp20 |
C |
T |
9: 7,642,808 (GRCm39) |
T214M |
probably benign |
Het |
Or4k5 |
A |
T |
14: 50,385,512 (GRCm39) |
I273K |
probably damaging |
Het |
Or52s1b |
G |
T |
7: 102,822,409 (GRCm39) |
A145E |
probably benign |
Het |
Or6c1b |
T |
C |
10: 129,273,140 (GRCm39) |
I153T |
possibly damaging |
Het |
Or6c209 |
G |
A |
10: 129,483,522 (GRCm39) |
C175Y |
probably benign |
Het |
Polq |
C |
A |
16: 36,837,619 (GRCm39) |
T177K |
probably benign |
Het |
Pomgnt2 |
A |
T |
9: 121,811,326 (GRCm39) |
V485E |
probably damaging |
Het |
Ppip5k2 |
A |
T |
1: 97,687,057 (GRCm39) |
C49* |
probably null |
Het |
Prkrip1 |
T |
C |
5: 136,226,682 (GRCm39) |
N53D |
possibly damaging |
Het |
Prrc2b |
T |
C |
2: 32,102,310 (GRCm39) |
|
probably benign |
Het |
Qprt |
T |
C |
7: 126,707,358 (GRCm39) |
E246G |
probably damaging |
Het |
Rpl9 |
A |
G |
5: 65,545,995 (GRCm39) |
V167A |
probably benign |
Het |
Rskr |
T |
C |
11: 78,184,384 (GRCm39) |
S244P |
probably damaging |
Het |
Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
Sgsm1 |
T |
C |
5: 113,436,702 (GRCm39) |
I43V |
probably benign |
Het |
Slc38a7 |
A |
G |
8: 96,567,109 (GRCm39) |
|
probably benign |
Het |
Slc8b1 |
A |
G |
5: 120,662,265 (GRCm39) |
|
probably benign |
Het |
Sp2 |
T |
C |
11: 96,852,525 (GRCm39) |
Y133C |
probably damaging |
Het |
Spdye4b |
A |
T |
5: 143,181,430 (GRCm39) |
D95V |
probably damaging |
Het |
Srek1 |
T |
C |
13: 103,880,194 (GRCm39) |
T455A |
unknown |
Het |
Stox2 |
A |
T |
8: 47,656,317 (GRCm39) |
|
probably benign |
Het |
Synrg |
T |
A |
11: 83,878,736 (GRCm39) |
|
probably benign |
Het |
Tie1 |
T |
A |
4: 118,341,550 (GRCm39) |
E254V |
probably damaging |
Het |
Tmem97 |
G |
T |
11: 78,433,414 (GRCm39) |
F160L |
probably damaging |
Het |
Utp6 |
A |
T |
11: 79,844,457 (GRCm39) |
H189Q |
possibly damaging |
Het |
Vip |
T |
A |
10: 5,594,953 (GRCm39) |
*172R |
probably null |
Het |
Wdr91 |
T |
C |
6: 34,883,620 (GRCm39) |
R132G |
possibly damaging |
Het |
Wipi1 |
T |
C |
11: 109,469,110 (GRCm39) |
|
probably benign |
Het |
Zfp445 |
A |
G |
9: 122,681,421 (GRCm39) |
V840A |
probably 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 |
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 |
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 |
|
Predicted Primers |
|
Posted On |
2014-01-09 |