Incidental Mutation 'IGL00583:Pigw'
ID |
4527 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pigw
|
Ensembl Gene |
ENSMUSG00000045140 |
Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class W |
Synonyms |
2610044A17Rik, Gwt1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
IGL00583
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
84767141-84771111 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 84768714 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 205
(V205A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103715
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020837]
[ENSMUST00000067058]
[ENSMUST00000093969]
[ENSMUST00000108080]
|
AlphaFold |
Q8C398 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020837
|
SMART Domains |
Protein: ENSMUSP00000020837 Gene: ENSMUSG00000020527
Domain | Start | End | E-Value | Type |
MYSc
|
29 |
205 |
2.18e-1 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067058
AA Change: V205A
PolyPhen 2
Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000064547 Gene: ENSMUSG00000045140 AA Change: V205A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
transmembrane domain
|
62 |
95 |
N/A |
INTRINSIC |
transmembrane domain
|
134 |
152 |
N/A |
INTRINSIC |
transmembrane domain
|
162 |
181 |
N/A |
INTRINSIC |
transmembrane domain
|
202 |
219 |
N/A |
INTRINSIC |
transmembrane domain
|
232 |
254 |
N/A |
INTRINSIC |
transmembrane domain
|
261 |
280 |
N/A |
INTRINSIC |
Pfam:GWT1
|
300 |
462 |
1.3e-37 |
PFAM |
transmembrane domain
|
470 |
492 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000093969
|
SMART Domains |
Protein: ENSMUSP00000091502 Gene: ENSMUSG00000020527
Domain | Start | End | E-Value | Type |
MYSc
|
29 |
759 |
4.07e-219 |
SMART |
IQ
|
760 |
782 |
1.74e1 |
SMART |
IQ
|
783 |
804 |
1.97e0 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108080
AA Change: V205A
PolyPhen 2
Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000103715 Gene: ENSMUSG00000045140 AA Change: V205A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
transmembrane domain
|
62 |
95 |
N/A |
INTRINSIC |
transmembrane domain
|
134 |
152 |
N/A |
INTRINSIC |
transmembrane domain
|
162 |
181 |
N/A |
INTRINSIC |
transmembrane domain
|
202 |
219 |
N/A |
INTRINSIC |
transmembrane domain
|
232 |
254 |
N/A |
INTRINSIC |
transmembrane domain
|
261 |
280 |
N/A |
INTRINSIC |
Pfam:GWT1
|
300 |
462 |
1.6e-36 |
PFAM |
transmembrane domain
|
470 |
492 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123515
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124152
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124475
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141173
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141705
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an inositol acyltransferase that acylates the inositol ring of phosphatidylinositol. This occurs in the endoplasmic reticulum and is a step in the biosynthesis of glycosylphosphatidylinositol (GPI), which anchors many cell surface proteins to the membrane. Defects in this gene are a cause of West syndrome and hyperphosphatasia with mental retardation syndrome. [provided by RefSeq, Oct 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts6 |
C |
T |
13: 104,433,726 (GRCm39) |
Q52* |
probably null |
Het |
Ambp |
G |
T |
4: 63,072,255 (GRCm39) |
A13D |
possibly damaging |
Het |
Angptl3 |
A |
G |
4: 98,923,077 (GRCm39) |
T283A |
probably damaging |
Het |
Atp13a5 |
A |
T |
16: 29,094,205 (GRCm39) |
|
probably benign |
Het |
Borcs8 |
A |
G |
8: 70,597,757 (GRCm39) |
H93R |
probably benign |
Het |
Bzw1 |
T |
C |
1: 58,440,494 (GRCm39) |
|
probably benign |
Het |
Cd200 |
A |
C |
16: 45,217,472 (GRCm39) |
I73R |
probably damaging |
Het |
Coq8a |
T |
C |
1: 179,995,954 (GRCm39) |
D528G |
probably benign |
Het |
Edem1 |
T |
A |
6: 108,832,520 (GRCm39) |
|
probably benign |
Het |
Enpp5 |
C |
T |
17: 44,396,088 (GRCm39) |
|
probably benign |
Het |
Eprs1 |
G |
T |
1: 185,139,345 (GRCm39) |
C910F |
probably benign |
Het |
Erich6 |
T |
C |
3: 58,544,464 (GRCm39) |
E41G |
unknown |
Het |
Gls2 |
A |
G |
10: 128,040,751 (GRCm39) |
M340V |
probably benign |
Het |
Gna12 |
A |
T |
5: 140,746,773 (GRCm39) |
V224E |
probably damaging |
Het |
Golph3l |
T |
C |
3: 95,496,414 (GRCm39) |
L46P |
possibly damaging |
Het |
Limch1 |
T |
C |
5: 67,111,022 (GRCm39) |
I83T |
probably damaging |
Het |
Mas1 |
T |
C |
17: 13,060,852 (GRCm39) |
I190M |
possibly damaging |
Het |
Mefv |
T |
A |
16: 3,533,936 (GRCm39) |
K112* |
probably null |
Het |
Oas1e |
T |
A |
5: 120,932,337 (GRCm39) |
E102V |
probably damaging |
Het |
Pde6a |
T |
C |
18: 61,390,339 (GRCm39) |
C521R |
probably damaging |
Het |
Ptpn21 |
G |
A |
12: 98,699,860 (GRCm39) |
S18F |
probably damaging |
Het |
Shprh |
C |
T |
10: 11,063,764 (GRCm39) |
T1279I |
probably benign |
Het |
Slc11a2 |
T |
C |
15: 100,295,618 (GRCm39) |
E501G |
probably benign |
Het |
Sult2a3 |
T |
A |
7: 13,856,905 (GRCm39) |
Y5F |
probably benign |
Het |
Tll1 |
A |
G |
8: 64,658,326 (GRCm39) |
L31P |
probably benign |
Het |
Tubgcp3 |
G |
A |
8: 12,671,906 (GRCm39) |
Q779* |
probably null |
Het |
U2surp |
T |
A |
9: 95,343,577 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Pigw |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00778:Pigw
|
APN |
11 |
84,768,150 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL01062:Pigw
|
APN |
11 |
84,768,769 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02741:Pigw
|
APN |
11 |
84,769,192 (GRCm39) |
missense |
probably benign |
|
IGL03136:Pigw
|
APN |
11 |
84,768,603 (GRCm39) |
missense |
probably benign |
0.43 |
R0959:Pigw
|
UTSW |
11 |
84,769,033 (GRCm39) |
missense |
probably benign |
0.17 |
R1446:Pigw
|
UTSW |
11 |
84,769,186 (GRCm39) |
missense |
probably benign |
0.04 |
R1692:Pigw
|
UTSW |
11 |
84,767,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R1851:Pigw
|
UTSW |
11 |
84,768,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R2061:Pigw
|
UTSW |
11 |
84,768,136 (GRCm39) |
missense |
probably benign |
0.00 |
R3617:Pigw
|
UTSW |
11 |
84,769,133 (GRCm39) |
missense |
probably damaging |
0.98 |
R3693:Pigw
|
UTSW |
11 |
84,769,209 (GRCm39) |
missense |
probably benign |
0.09 |
R7136:Pigw
|
UTSW |
11 |
84,768,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R7312:Pigw
|
UTSW |
11 |
84,768,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R7317:Pigw
|
UTSW |
11 |
84,768,066 (GRCm39) |
missense |
probably benign |
0.00 |
R7336:Pigw
|
UTSW |
11 |
84,767,930 (GRCm39) |
missense |
probably damaging |
1.00 |
R7436:Pigw
|
UTSW |
11 |
84,768,789 (GRCm39) |
missense |
probably damaging |
0.97 |
R8002:Pigw
|
UTSW |
11 |
84,769,249 (GRCm39) |
missense |
probably benign |
0.03 |
R8265:Pigw
|
UTSW |
11 |
84,770,847 (GRCm39) |
intron |
probably benign |
|
R8726:Pigw
|
UTSW |
11 |
84,768,643 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8893:Pigw
|
UTSW |
11 |
84,767,961 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9456:Pigw
|
UTSW |
11 |
84,768,040 (GRCm39) |
missense |
probably benign |
0.04 |
RF009:Pigw
|
UTSW |
11 |
84,767,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-04-20 |