Incidental Mutation 'R4589:Pigg'
| ID |
342667 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4589 (G1)
|
| Quality Score |
100 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
108460679-108497225 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 108480556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 447
(A447T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113818
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031189]
[ENSMUST00000118910]
[ENSMUST00000119014]
|
| AlphaFold |
D3Z3Y1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031189
AA Change: A439T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031189
Gene: ENSMUSG00000029263
AA Change: A439T
| 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
AA Change: A314T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112984
Gene: ENSMUSG00000029263
AA Change: A314T
| 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
AA Change: A447T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113818
Gene: ENSMUSG00000029263
AA Change: A447T
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
G |
T |
16: 14,211,895 (GRCm39) |
V157L |
probably benign |
Het |
| Actn1 |
G |
A |
12: 80,218,573 (GRCm39) |
T737I |
possibly damaging |
Het |
| Ada |
T |
C |
2: 163,574,868 (GRCm39) |
K90E |
possibly damaging |
Het |
| Ap2b1 |
T |
A |
11: 83,223,837 (GRCm39) |
L184* |
probably null |
Het |
| Arfgef3 |
T |
C |
10: 18,521,947 (GRCm39) |
D693G |
probably damaging |
Het |
| Arid4a |
A |
T |
12: 71,116,738 (GRCm39) |
I277F |
probably damaging |
Het |
| Armh4 |
A |
G |
14: 50,011,039 (GRCm39) |
S223P |
probably damaging |
Het |
| Ccdc171 |
A |
G |
4: 83,467,855 (GRCm39) |
S67G |
probably benign |
Het |
| Ccr5 |
T |
A |
9: 123,924,539 (GRCm39) |
F47L |
probably benign |
Het |
| Clip4 |
T |
A |
17: 72,117,862 (GRCm39) |
C302* |
probably null |
Het |
| Cyth1 |
C |
T |
11: 118,075,811 (GRCm39) |
V142I |
possibly damaging |
Het |
| Ddx59 |
T |
A |
1: 136,367,480 (GRCm39) |
|
probably null |
Het |
| Def6 |
G |
T |
17: 28,447,121 (GRCm39) |
R584L |
probably benign |
Het |
| Dnah7c |
C |
A |
1: 46,553,743 (GRCm39) |
Y340* |
probably null |
Het |
| Eif2ak4 |
T |
G |
2: 118,247,819 (GRCm39) |
C173W |
probably damaging |
Het |
| Gm14403 |
C |
T |
2: 177,200,428 (GRCm39) |
H125Y |
probably benign |
Het |
| Grk3 |
T |
C |
5: 113,089,584 (GRCm39) |
I323V |
possibly damaging |
Het |
| Homez |
G |
T |
14: 55,094,487 (GRCm39) |
T407K |
probably damaging |
Het |
| Igdcc4 |
A |
G |
9: 65,037,910 (GRCm39) |
T763A |
probably damaging |
Het |
| Ighg2b |
A |
T |
12: 113,270,104 (GRCm39) |
W305R |
unknown |
Het |
| Il27ra |
G |
T |
8: 84,763,038 (GRCm39) |
N296K |
probably damaging |
Het |
| Lzic |
G |
T |
4: 149,572,561 (GRCm39) |
L50F |
probably damaging |
Het |
| Mbtd1 |
T |
C |
11: 93,812,245 (GRCm39) |
V183A |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,287,693 (GRCm39) |
D731E |
probably benign |
Het |
| Mocos |
T |
C |
18: 24,787,095 (GRCm39) |
L38P |
probably damaging |
Het |
| Mrps18a |
T |
C |
17: 46,428,899 (GRCm39) |
|
probably null |
Het |
| Msh2 |
T |
A |
17: 87,987,460 (GRCm39) |
V200D |
possibly damaging |
Het |
| Mug1 |
A |
T |
6: 121,834,310 (GRCm39) |
I364F |
probably benign |
Het |
| Mycbp2 |
G |
T |
14: 103,414,749 (GRCm39) |
S2554R |
probably benign |
Het |
| Nat10 |
A |
G |
2: 103,584,415 (GRCm39) |
C121R |
probably damaging |
Het |
| Nfatc3 |
T |
A |
8: 106,805,705 (GRCm39) |
D183E |
probably damaging |
Het |
| Odr4 |
C |
T |
1: 150,260,238 (GRCm39) |
V127I |
probably benign |
Het |
| Or4d10c |
T |
C |
19: 12,065,305 (GRCm39) |
I284V |
possibly damaging |
Het |
| Or51ac3 |
A |
T |
7: 103,213,639 (GRCm39) |
F282L |
probably damaging |
Het |
| Or52h1 |
C |
A |
7: 103,828,636 (GRCm39) |
|
probably null |
Het |
| Or5d14 |
T |
C |
2: 87,880,823 (GRCm39) |
I48M |
probably benign |
Het |
| Pak6 |
T |
A |
2: 118,527,021 (GRCm39) |
I672K |
probably damaging |
Het |
| Pan3 |
A |
T |
5: 147,479,983 (GRCm39) |
I830F |
probably damaging |
Het |
| Pcdh9 |
A |
T |
14: 94,125,628 (GRCm39) |
L181I |
probably damaging |
Het |
| Pitpnb |
T |
A |
5: 111,519,214 (GRCm39) |
S165T |
probably damaging |
Het |
| Pla2g2a |
A |
G |
4: 138,560,590 (GRCm39) |
Y67C |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,688,928 (GRCm39) |
I80T |
probably damaging |
Het |
| Pnma1 |
A |
G |
12: 84,194,235 (GRCm39) |
I156T |
probably benign |
Het |
| Prss21 |
G |
T |
17: 24,091,796 (GRCm39) |
D255Y |
possibly damaging |
Het |
| Prune1 |
T |
A |
3: 95,169,642 (GRCm39) |
I187F |
possibly damaging |
Het |
| Rab7b |
T |
C |
1: 131,633,385 (GRCm39) |
F78L |
probably benign |
Het |
| Riok3 |
T |
A |
18: 12,269,844 (GRCm39) |
Y92N |
probably benign |
Het |
| Rpap2 |
T |
C |
5: 107,768,361 (GRCm39) |
S400P |
probably benign |
Het |
| Ryr3 |
C |
A |
2: 112,705,478 (GRCm39) |
G792V |
probably damaging |
Het |
| Septin3 |
A |
G |
15: 82,170,092 (GRCm39) |
E206G |
probably damaging |
Het |
| Stkld1 |
T |
C |
2: 26,840,679 (GRCm39) |
S454P |
probably damaging |
Het |
| Tdh |
A |
T |
14: 63,733,326 (GRCm39) |
L140Q |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 34,047,401 (GRCm39) |
H159Q |
probably damaging |
Het |
| Tmed6 |
C |
T |
8: 107,790,793 (GRCm39) |
V85I |
probably benign |
Het |
| Vmn1r174 |
T |
A |
7: 23,454,204 (GRCm39) |
L290* |
probably null |
Het |
| Vmn1r31 |
A |
G |
6: 58,449,596 (GRCm39) |
S90P |
probably damaging |
Het |
| Vmn2r55 |
T |
C |
7: 12,404,822 (GRCm39) |
T194A |
probably damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,192,548 (GRCm39) |
I42F |
probably damaging |
Het |
| Vps35 |
G |
A |
8: 86,014,331 (GRCm39) |
P106L |
probably damaging |
Het |
| Xrcc6 |
T |
A |
15: 81,906,661 (GRCm39) |
Y69N |
probably damaging |
Het |
| Zbtb14 |
C |
T |
17: 69,695,465 (GRCm39) |
P388S |
probably damaging |
Het |
| Zfp541 |
C |
T |
7: 15,817,261 (GRCm39) |
A902V |
probably benign |
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 |
|
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 |
|
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 |
2015-09-24 |
Incidental Mutation