Incidental Mutation 'IGL00778:Pigw'
| ID |
13010 |
| 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: 0.120)
|
| Stock # |
IGL00778
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
84767141-84771111 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84768150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 393
(I393T)
|
| 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: I393T
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000064547
Gene: ENSMUSG00000045140
AA Change: I393T
| 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: I393T
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103715
Gene: ENSMUSG00000045140
AA Change: I393T
| 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: 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
G |
A |
14: 44,401,391 (GRCm39) |
H152Y |
probably benign |
Het |
| Abca1 |
T |
C |
4: 53,086,132 (GRCm39) |
D457G |
probably benign |
Het |
| Atp8a1 |
T |
G |
5: 67,817,246 (GRCm39) |
K913N |
possibly damaging |
Het |
| Cd180 |
G |
A |
13: 102,841,917 (GRCm39) |
S321N |
probably benign |
Het |
| Cdc14b |
T |
C |
13: 64,363,470 (GRCm39) |
N264D |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,387,109 (GRCm39) |
C1724S |
probably benign |
Het |
| Chil4 |
A |
G |
3: 106,109,113 (GRCm39) |
S397P |
probably benign |
Het |
| Clpb |
C |
T |
7: 101,427,815 (GRCm39) |
R387* |
probably null |
Het |
| Csgalnact2 |
A |
T |
6: 118,103,233 (GRCm39) |
M1K |
probably null |
Het |
| Enpp3 |
C |
A |
10: 24,674,160 (GRCm39) |
C380F |
probably damaging |
Het |
| Gtf3c1 |
G |
A |
7: 125,266,546 (GRCm39) |
R967W |
probably damaging |
Het |
| Hnrnpr |
T |
A |
4: 136,066,856 (GRCm39) |
D472E |
unknown |
Het |
| Klhl28 |
A |
T |
12: 64,996,840 (GRCm39) |
D500E |
probably damaging |
Het |
| Lmo7 |
C |
T |
14: 102,148,321 (GRCm39) |
|
probably benign |
Het |
| Mphosph8 |
A |
G |
14: 56,911,900 (GRCm39) |
I308V |
probably benign |
Het |
| Myo6 |
T |
A |
9: 80,190,868 (GRCm39) |
|
probably null |
Het |
| Nsmaf |
C |
T |
4: 6,435,056 (GRCm39) |
|
probably null |
Het |
| Padi6 |
T |
A |
4: 140,454,934 (GRCm39) |
I668L |
possibly damaging |
Het |
| Prg3 |
G |
A |
2: 84,824,076 (GRCm39) |
C212Y |
probably damaging |
Het |
| Pwp1 |
T |
C |
10: 85,715,752 (GRCm39) |
V267A |
probably benign |
Het |
| Raver2 |
C |
A |
4: 100,953,468 (GRCm39) |
Q79K |
probably benign |
Het |
| Sdr9c7 |
T |
C |
10: 127,745,697 (GRCm39) |
S270P |
probably damaging |
Het |
| Sfmbt2 |
A |
G |
2: 10,406,818 (GRCm39) |
E39G |
probably damaging |
Het |
| Strada |
A |
G |
11: 106,061,976 (GRCm39) |
|
probably benign |
Het |
| Xrn1 |
T |
C |
9: 95,855,500 (GRCm39) |
|
probably benign |
Het |
| Zic3 |
A |
G |
X: 57,079,779 (GRCm39) |
Y424C |
probably damaging |
Het |
|
| Other mutations in Pigw |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00583:Pigw
|
APN |
11 |
84,768,714 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
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 |
2012-12-06 |
Incidental Mutation