Incidental Mutation 'IGL01062:Pigw'
| ID |
52192 |
| 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 # |
IGL01062
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
84767141-84771111 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84768769 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 187
(R187G)
|
| 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 |
probably benign
Transcript: ENSMUST00000067058
AA Change: R187G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000064547
Gene: ENSMUSG00000045140
AA Change: R187G
| 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 |
probably benign
Transcript: ENSMUST00000108080
AA Change: R187G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103715
Gene: ENSMUSG00000045140
AA Change: R187G
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141173
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Amer3 |
A |
G |
1: 34,625,820 (GRCm39) |
K20E |
probably damaging |
Het |
| Arhgap31 |
A |
G |
16: 38,421,818 (GRCm39) |
L1416P |
probably damaging |
Het |
| Avpr1a |
G |
A |
10: 122,285,434 (GRCm39) |
C242Y |
probably damaging |
Het |
| Bclaf3 |
T |
C |
X: 158,336,415 (GRCm39) |
Y281H |
probably benign |
Het |
| Cdc14a |
T |
A |
3: 116,068,361 (GRCm39) |
|
probably benign |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cntn4 |
T |
C |
6: 106,595,239 (GRCm39) |
|
probably benign |
Het |
| Cyp3a44 |
T |
A |
5: 145,731,149 (GRCm39) |
D217V |
possibly damaging |
Het |
| Eprs1 |
A |
G |
1: 185,111,812 (GRCm39) |
E274G |
probably benign |
Het |
| Ercc6l2 |
G |
T |
13: 63,995,268 (GRCm39) |
Q354H |
probably null |
Het |
| Glb1l |
A |
T |
1: 75,177,882 (GRCm39) |
I392N |
probably damaging |
Het |
| Gm3173 |
T |
C |
14: 15,728,472 (GRCm39) |
|
probably null |
Het |
| Hadh |
C |
T |
3: 131,034,640 (GRCm39) |
V219M |
probably damaging |
Het |
| Hspb9 |
A |
G |
11: 100,604,761 (GRCm39) |
H29R |
possibly damaging |
Het |
| Iqgap3 |
G |
T |
3: 88,017,429 (GRCm39) |
V240L |
probably benign |
Het |
| Jmjd1c |
T |
C |
10: 67,062,494 (GRCm39) |
S1616P |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,907,461 (GRCm39) |
I1662V |
probably benign |
Het |
| Maco1 |
A |
T |
4: 134,560,608 (GRCm39) |
V125E |
probably damaging |
Het |
| Mapre3 |
A |
G |
5: 31,022,240 (GRCm39) |
I236V |
probably benign |
Het |
| Med17 |
T |
C |
9: 15,190,917 (GRCm39) |
E58G |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,189,749 (GRCm39) |
E1099G |
probably damaging |
Het |
| Myt1 |
T |
A |
2: 181,439,522 (GRCm39) |
V348D |
probably damaging |
Het |
| Nat10 |
A |
T |
2: 103,573,393 (GRCm39) |
I368N |
probably damaging |
Het |
| Nol6 |
T |
C |
4: 41,118,205 (GRCm39) |
I811V |
probably benign |
Het |
| Oas1d |
C |
A |
5: 121,057,127 (GRCm39) |
Y244* |
probably null |
Het |
| Or6e1 |
A |
T |
14: 54,520,181 (GRCm39) |
M57K |
probably damaging |
Het |
| Osbpl1a |
A |
G |
18: 13,038,132 (GRCm39) |
V273A |
probably benign |
Het |
| Plekhg5 |
G |
A |
4: 152,192,953 (GRCm39) |
D603N |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,456,414 (GRCm39) |
V1058A |
probably damaging |
Het |
| Robo4 |
G |
A |
9: 37,317,296 (GRCm39) |
S537N |
probably benign |
Het |
| Rptn |
T |
A |
3: 93,304,489 (GRCm39) |
F607L |
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,759,972 (GRCm39) |
V44A |
probably damaging |
Het |
| Sh3bp4 |
C |
A |
1: 89,071,682 (GRCm39) |
Q177K |
probably benign |
Het |
| Skic3 |
T |
A |
13: 76,303,581 (GRCm39) |
L1225* |
probably null |
Het |
| Spmip6 |
T |
A |
4: 41,511,433 (GRCm39) |
E93D |
probably damaging |
Het |
| Srrt |
C |
A |
5: 137,294,569 (GRCm39) |
G779V |
probably damaging |
Het |
| Tamalin |
A |
G |
15: 101,126,777 (GRCm39) |
|
probably benign |
Het |
| Tex21 |
T |
C |
12: 76,245,718 (GRCm39) |
D526G |
probably benign |
Het |
| Vmn1r10 |
A |
G |
6: 57,090,821 (GRCm39) |
S138G |
possibly damaging |
Het |
| Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
probably null |
Het |
| Zfp454 |
T |
C |
11: 50,765,033 (GRCm39) |
E22G |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,765,795 (GRCm39) |
C1441S |
probably benign |
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 |
|
IGL00778:Pigw
|
APN |
11 |
84,768,150 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
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 |
2013-06-21 |
Incidental Mutation