Incidental Mutation 'IGL02104:Pigg'
| ID |
279897 |
| 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: 0.067)
|
| Stock # |
IGL02104
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
108460679-108497225 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108489963 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 856
(Y856C)
|
| 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: Y848C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031189
Gene: ENSMUSG00000029263
AA Change: Y848C
| 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: Y723C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112984
Gene: ENSMUSG00000029263
AA Change: Y723C
| 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: Y856C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113818
Gene: ENSMUSG00000029263
AA Change: Y856C
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933440M02Rik |
T |
C |
7: 124,930,714 (GRCm39) |
|
noncoding transcript |
Het |
| Abcb5 |
T |
A |
12: 118,904,415 (GRCm39) |
Q125L |
probably damaging |
Het |
| Acap3 |
G |
A |
4: 155,989,542 (GRCm39) |
R662H |
probably damaging |
Het |
| Aox4 |
T |
A |
1: 58,275,816 (GRCm39) |
|
probably benign |
Het |
| Aqp6 |
T |
C |
15: 99,502,159 (GRCm39) |
S285P |
probably benign |
Het |
| Arhgef5 |
A |
T |
6: 43,249,345 (GRCm39) |
Q32L |
probably damaging |
Het |
| B3gnt6 |
G |
T |
7: 97,843,308 (GRCm39) |
D217E |
probably damaging |
Het |
| Cfap251 |
T |
A |
5: 123,440,761 (GRCm39) |
L1106* |
probably null |
Het |
| Chd6 |
T |
C |
2: 160,819,432 (GRCm39) |
I1338V |
probably benign |
Het |
| Clic6 |
A |
G |
16: 92,295,367 (GRCm39) |
E9G |
possibly damaging |
Het |
| Col11a1 |
T |
A |
3: 113,975,046 (GRCm39) |
|
probably null |
Het |
| Dcdc2b |
T |
A |
4: 129,504,867 (GRCm39) |
D88V |
probably benign |
Het |
| Dis3l |
T |
A |
9: 64,217,611 (GRCm39) |
K791N |
possibly damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,311,299 (GRCm39) |
Y1008* |
probably null |
Het |
| Dnah11 |
A |
G |
12: 118,156,125 (GRCm39) |
V175A |
probably benign |
Het |
| Efl1 |
A |
G |
7: 82,307,263 (GRCm39) |
|
probably null |
Het |
| Fam117b |
C |
T |
1: 59,988,278 (GRCm39) |
T219I |
probably benign |
Het |
| Fgf21 |
T |
A |
7: 45,264,648 (GRCm39) |
Q28L |
probably benign |
Het |
| Folh1 |
T |
C |
7: 86,393,638 (GRCm39) |
Q391R |
possibly damaging |
Het |
| Gars1 |
A |
G |
6: 55,054,682 (GRCm39) |
D663G |
probably damaging |
Het |
| Lats2 |
A |
G |
14: 57,971,469 (GRCm39) |
F69L |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,340,762 (GRCm39) |
V1038M |
probably damaging |
Het |
| Map3k1 |
A |
T |
13: 111,892,777 (GRCm39) |
V826E |
probably damaging |
Het |
| Mapkap1 |
T |
A |
2: 34,513,482 (GRCm39) |
Y497* |
probably null |
Het |
| Mast3 |
T |
C |
8: 71,240,550 (GRCm39) |
I296V |
possibly damaging |
Het |
| Mon1a |
T |
G |
9: 107,778,814 (GRCm39) |
L346R |
probably damaging |
Het |
| Mphosph8 |
T |
C |
14: 56,912,036 (GRCm39) |
L353S |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,364,815 (GRCm39) |
Y2634H |
probably damaging |
Het |
| Mylk |
A |
G |
16: 34,635,805 (GRCm39) |
T9A |
probably benign |
Het |
| Or10j2 |
T |
C |
1: 173,098,603 (GRCm39) |
V287A |
probably damaging |
Het |
| Or14j8 |
A |
C |
17: 38,263,182 (GRCm39) |
H244Q |
probably damaging |
Het |
| Or55b3 |
C |
A |
7: 102,126,544 (GRCm39) |
V178F |
probably damaging |
Het |
| Or5an6 |
T |
A |
19: 12,372,263 (GRCm39) |
V212D |
probably damaging |
Het |
| Or5b122 |
T |
A |
19: 13,562,968 (GRCm39) |
M57K |
probably damaging |
Het |
| Or5m8 |
G |
T |
2: 85,822,730 (GRCm39) |
D190Y |
probably damaging |
Het |
| Or7g25 |
A |
T |
9: 19,160,166 (GRCm39) |
H176Q |
probably benign |
Het |
| Pabpc2 |
A |
C |
18: 39,907,936 (GRCm39) |
Q400H |
possibly damaging |
Het |
| Plekhn1 |
A |
T |
4: 156,306,865 (GRCm39) |
V508E |
probably benign |
Het |
| Pom121l2 |
C |
A |
13: 22,166,445 (GRCm39) |
H239N |
possibly damaging |
Het |
| Prdm2 |
A |
G |
4: 142,859,997 (GRCm39) |
S1098P |
probably benign |
Het |
| Rnf212 |
A |
G |
5: 108,895,306 (GRCm39) |
I41T |
possibly damaging |
Het |
| Rngtt |
A |
G |
4: 33,320,517 (GRCm39) |
|
probably null |
Het |
| Rpn2 |
C |
T |
2: 157,163,747 (GRCm39) |
T613M |
probably damaging |
Het |
| Scd4 |
G |
T |
19: 44,333,186 (GRCm39) |
V304F |
possibly damaging |
Het |
| Sez6l |
A |
G |
5: 112,574,630 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
A |
G |
5: 93,088,248 (GRCm39) |
R158G |
probably benign |
Het |
| Stil |
T |
C |
4: 114,898,679 (GRCm39) |
L1103P |
probably damaging |
Het |
| Tanc2 |
T |
C |
11: 105,670,959 (GRCm39) |
|
probably benign |
Het |
| Tmc1 |
C |
T |
19: 20,809,818 (GRCm39) |
D255N |
probably benign |
Het |
| Trank1 |
C |
A |
9: 111,219,780 (GRCm39) |
D2172E |
possibly damaging |
Het |
| Tyro3 |
G |
A |
2: 119,643,681 (GRCm39) |
R718H |
probably damaging |
Het |
| Vamp2 |
C |
A |
11: 68,981,483 (GRCm39) |
F114L |
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 |
|
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 |
2015-04-16 |
Incidental Mutation