Incidental Mutation 'IGL02741:Pigw'
| ID |
305917 |
| 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 # |
IGL02741
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
84767141-84771111 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 84769192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 46
(V46I)
|
| 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: V46I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000064547
Gene: ENSMUSG00000045140
AA Change: V46I
| 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: V46I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103715
Gene: ENSMUSG00000045140
AA Change: V46I
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930004D18Rik |
T |
C |
2: 18,032,007 (GRCm39) |
Y37C |
unknown |
Het |
| Arhgap20 |
T |
A |
9: 51,759,945 (GRCm39) |
C599S |
probably benign |
Het |
| Bcl6b |
C |
A |
11: 70,119,942 (GRCm39) |
R15L |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dchs1 |
C |
T |
7: 105,406,530 (GRCm39) |
D2262N |
probably damaging |
Het |
| Dsg4 |
A |
G |
18: 20,604,553 (GRCm39) |
M1007V |
probably benign |
Het |
| Fgd6 |
A |
G |
10: 93,959,152 (GRCm39) |
K1032R |
possibly damaging |
Het |
| Fras1 |
T |
A |
5: 96,839,230 (GRCm39) |
M1583K |
probably benign |
Het |
| Gjc3 |
A |
T |
5: 137,955,726 (GRCm39) |
C186* |
probably null |
Het |
| Gm14496 |
A |
G |
2: 181,633,136 (GRCm39) |
R40G |
probably benign |
Het |
| Ibtk |
T |
C |
9: 85,608,665 (GRCm39) |
R416G |
probably damaging |
Het |
| Kcnc4 |
A |
G |
3: 107,355,294 (GRCm39) |
F385L |
probably damaging |
Het |
| Mapk8ip2 |
T |
C |
15: 89,341,700 (GRCm39) |
S304P |
probably damaging |
Het |
| Mbd6 |
A |
G |
10: 127,123,263 (GRCm39) |
|
probably null |
Het |
| Mroh2b |
T |
C |
15: 4,935,114 (GRCm39) |
F183S |
probably benign |
Het |
| Nrg1 |
T |
A |
8: 32,312,316 (GRCm39) |
T334S |
probably damaging |
Het |
| Pkdrej |
T |
C |
15: 85,701,631 (GRCm39) |
E1435G |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,290,253 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
T |
16: 15,570,590 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
A |
T |
4: 76,051,521 (GRCm39) |
I247N |
probably damaging |
Het |
| Rfx1 |
A |
G |
8: 84,822,471 (GRCm39) |
Q923R |
possibly damaging |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Rps6ka2 |
T |
A |
17: 7,563,415 (GRCm39) |
F608I |
probably benign |
Het |
| Slc13a1 |
A |
T |
6: 24,150,707 (GRCm39) |
|
probably null |
Het |
| Slc6a20b |
C |
T |
9: 123,436,667 (GRCm39) |
V249M |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,401,961 (GRCm39) |
I783V |
possibly damaging |
Het |
| Swap70 |
G |
T |
7: 109,873,856 (GRCm39) |
M401I |
probably benign |
Het |
| Tmco4 |
A |
T |
4: 138,757,188 (GRCm39) |
I407F |
probably damaging |
Het |
| Trpm4 |
T |
A |
7: 44,967,912 (GRCm39) |
S340C |
possibly damaging |
Het |
| Tsc2 |
T |
C |
17: 24,848,943 (GRCm39) |
E79G |
probably damaging |
Het |
| Ubr1 |
A |
C |
2: 120,771,572 (GRCm39) |
S439A |
probably benign |
Het |
| Vmn1r73 |
T |
C |
7: 11,490,710 (GRCm39) |
V176A |
probably benign |
Het |
| Vmn2r17 |
G |
A |
5: 109,568,077 (GRCm39) |
D67N |
probably benign |
Het |
| Wasf1 |
C |
T |
10: 40,806,705 (GRCm39) |
T116M |
probably damaging |
Het |
| Zkscan3 |
A |
T |
13: 21,578,164 (GRCm39) |
M241K |
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 |
|
IGL01062:Pigw
|
APN |
11 |
84,768,769 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2015-04-16 |
Incidental Mutation