Incidental Mutation 'R6797:Pigg'
ID |
533044 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pigg
|
Ensembl Gene |
ENSMUSG00000029263 |
Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class G |
Synonyms |
Gpi7 |
MMRRC Submission |
044910-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R6797 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
108460679-108497225 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 108480694 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 493
(S493P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113818
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031189]
[ENSMUST00000118910]
[ENSMUST00000119014]
|
AlphaFold |
D3Z3Y1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031189
AA Change: S485P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000031189 Gene: ENSMUSG00000029263 AA Change: S485P
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 damaging
Transcript: ENSMUST00000118910
AA Change: S360P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000112984 Gene: ENSMUSG00000029263 AA Change: S360P
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 damaging
Transcript: ENSMUST00000119014
AA Change: S493P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113818 Gene: ENSMUSG00000029263 AA Change: S493P
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 |
|
Meta Mutation Damage Score |
0.3739 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.8%
|
Validation Efficiency |
100% (42/42) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c18 |
T |
A |
13: 4,195,276 (GRCm39) |
I61L |
probably benign |
Het |
Angptl2 |
T |
C |
2: 33,118,277 (GRCm39) |
V17A |
probably benign |
Het |
Casp14 |
T |
C |
10: 78,550,975 (GRCm39) |
D70G |
possibly damaging |
Het |
Cckbr |
A |
G |
7: 105,083,773 (GRCm39) |
M234V |
possibly damaging |
Het |
Cd93 |
T |
C |
2: 148,284,044 (GRCm39) |
N434S |
probably benign |
Het |
Cenpe |
A |
T |
3: 134,943,899 (GRCm39) |
Q938L |
possibly damaging |
Het |
Col6a3 |
A |
C |
1: 90,731,810 (GRCm39) |
V1481G |
probably damaging |
Het |
Dnah5 |
G |
T |
15: 28,233,384 (GRCm39) |
E248* |
probably null |
Het |
Dnah5 |
G |
A |
15: 28,451,609 (GRCm39) |
R4349Q |
probably damaging |
Het |
F11 |
A |
G |
8: 45,706,092 (GRCm39) |
Y98H |
probably benign |
Het |
Fen1 |
A |
G |
19: 10,178,067 (GRCm39) |
F126L |
probably benign |
Het |
Gpr146 |
G |
A |
5: 139,378,795 (GRCm39) |
G199D |
possibly damaging |
Het |
Gramd1b |
A |
G |
9: 40,219,702 (GRCm39) |
I324T |
probably benign |
Het |
H2bc12 |
A |
T |
13: 22,220,259 (GRCm39) |
N68I |
probably benign |
Het |
Hivep1 |
C |
A |
13: 42,310,557 (GRCm39) |
S932R |
probably benign |
Het |
Hk3 |
A |
T |
13: 55,158,644 (GRCm39) |
|
probably null |
Het |
Hspbp1 |
T |
A |
7: 4,663,781 (GRCm39) |
M355L |
possibly damaging |
Het |
Jaml |
T |
C |
9: 45,000,058 (GRCm39) |
C77R |
probably damaging |
Het |
Kmt2e |
A |
G |
5: 23,687,505 (GRCm39) |
N452D |
possibly damaging |
Het |
Krt5 |
T |
C |
15: 101,621,076 (GRCm39) |
Y57C |
unknown |
Het |
Lipn |
A |
T |
19: 34,058,160 (GRCm39) |
M294L |
probably benign |
Het |
Magel2 |
A |
G |
7: 62,029,907 (GRCm39) |
E937G |
unknown |
Het |
Med13l |
G |
A |
5: 118,897,329 (GRCm39) |
|
probably null |
Het |
Mrgprb8 |
G |
A |
7: 48,038,892 (GRCm39) |
V188I |
probably benign |
Het |
Ocln |
T |
C |
13: 100,676,223 (GRCm39) |
D90G |
probably damaging |
Het |
Ofcc1 |
C |
T |
13: 40,241,423 (GRCm39) |
R695Q |
possibly damaging |
Het |
Or11h23 |
T |
A |
14: 50,948,563 (GRCm39) |
Y259N |
probably damaging |
Het |
Or52ab7 |
G |
A |
7: 102,978,328 (GRCm39) |
V212I |
probably benign |
Het |
Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
Pak5 |
A |
T |
2: 135,939,454 (GRCm39) |
H560Q |
probably damaging |
Het |
Ppp6r3 |
A |
G |
19: 3,564,719 (GRCm39) |
W185R |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Sacs |
T |
A |
14: 61,450,522 (GRCm39) |
D4189E |
probably damaging |
Het |
Serpinb9b |
A |
G |
13: 33,213,467 (GRCm39) |
N8S |
possibly damaging |
Het |
Slit3 |
A |
G |
11: 35,524,779 (GRCm39) |
T730A |
possibly damaging |
Het |
Srgap3 |
A |
T |
6: 112,806,503 (GRCm39) |
F53I |
probably damaging |
Het |
Stc2 |
T |
A |
11: 31,315,351 (GRCm39) |
K163* |
probably null |
Het |
Tasor2 |
T |
C |
13: 3,626,769 (GRCm39) |
I1060M |
probably benign |
Het |
Tlk1 |
T |
A |
2: 70,568,770 (GRCm39) |
K411* |
probably null |
Het |
Ttc27 |
G |
T |
17: 75,036,883 (GRCm39) |
L185F |
probably benign |
Het |
Vmn2r102 |
C |
T |
17: 19,880,694 (GRCm39) |
Q12* |
probably null |
Het |
Vmn2r95 |
C |
T |
17: 18,672,551 (GRCm39) |
|
probably benign |
Het |
Vopp1 |
A |
G |
6: 57,739,492 (GRCm39) |
Y19H |
possibly damaging |
Het |
Wdr64 |
T |
A |
1: 175,638,176 (GRCm39) |
|
probably null |
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 |
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 |
|
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'- CGAGTGGACTTTCCTATCCCTG -3'
(R):5'- GCACTGCAATGCTGGTACATAC -3'
Sequencing Primer
(F):5'- TGGGCGTCCCTGTTCAC -3'
(R):5'- GCTGGTACATACAAGATTTTCAACC -3'
|
Posted On |
2018-08-29 |