Incidental Mutation 'R3617:Pigw'
| ID |
268487 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pigw
|
| Ensembl Gene |
ENSMUSG00000045140 |
| Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class W |
| Synonyms |
2610044A17Rik, Gwt1 |
| MMRRC Submission |
040674-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R3617 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
84767141-84771111 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84769133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 65
(I65M)
|
| 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 damaging
Transcript: ENSMUST00000067058
AA Change: I65M
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000064547
Gene: ENSMUSG00000045140
AA Change: I65M
| 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 damaging
Transcript: ENSMUST00000108080
AA Change: I65M
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103715
Gene: ENSMUSG00000045140
AA Change: I65M
| 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
|
| Meta Mutation Damage Score |
0.1728 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (41/42) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,625,015 (GRCm39) |
V460A |
probably damaging |
Het |
| Aplf |
T |
C |
6: 87,648,865 (GRCm39) |
I25V |
possibly damaging |
Het |
| Ascc3 |
A |
G |
10: 50,494,281 (GRCm39) |
T239A |
probably benign |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Cbfa2t2 |
A |
T |
2: 154,278,904 (GRCm39) |
|
probably benign |
Het |
| Ccdc168 |
T |
C |
1: 44,100,114 (GRCm39) |
D328G |
probably benign |
Het |
| Cdkn1c |
C |
T |
7: 143,013,531 (GRCm39) |
|
probably benign |
Het |
| Cfap46 |
A |
G |
7: 139,219,515 (GRCm39) |
S1317P |
probably benign |
Het |
| Cntln |
C |
T |
4: 84,923,214 (GRCm39) |
Q560* |
probably null |
Het |
| Cntn2 |
G |
C |
1: 132,456,361 (GRCm39) |
A161G |
probably benign |
Het |
| Crybg1 |
A |
G |
10: 43,832,782 (GRCm39) |
I1991T |
possibly damaging |
Het |
| Cttnbp2 |
T |
C |
6: 18,414,189 (GRCm39) |
E952G |
probably damaging |
Het |
| Dhx36 |
T |
C |
3: 62,379,428 (GRCm39) |
T887A |
possibly damaging |
Het |
| Dhx36 |
A |
G |
3: 62,394,481 (GRCm39) |
F512L |
probably benign |
Het |
| Fthl17f |
A |
G |
X: 8,929,862 (GRCm39) |
T153A |
probably benign |
Het |
| Gad1-ps |
T |
A |
10: 99,281,260 (GRCm39) |
|
noncoding transcript |
Het |
| Gba2 |
C |
T |
4: 43,573,803 (GRCm39) |
R163H |
probably damaging |
Het |
| Gm10717 |
A |
G |
9: 3,025,532 (GRCm39) |
Y39C |
probably benign |
Het |
| Gm17019 |
A |
T |
5: 15,081,081 (GRCm39) |
M120K |
possibly damaging |
Het |
| Helz2 |
C |
T |
2: 180,874,854 (GRCm39) |
R1880H |
probably damaging |
Het |
| Ifi204 |
T |
C |
1: 173,583,283 (GRCm39) |
I312V |
possibly damaging |
Het |
| Kncn |
T |
C |
4: 115,743,089 (GRCm39) |
F55L |
probably benign |
Het |
| Kndc1 |
G |
A |
7: 139,481,976 (GRCm39) |
|
probably benign |
Het |
| Nat8f3 |
C |
A |
6: 85,738,670 (GRCm39) |
A31S |
probably benign |
Het |
| Ndst4 |
T |
C |
3: 125,231,782 (GRCm39) |
I117T |
probably benign |
Het |
| Ndufa9 |
G |
T |
6: 126,826,071 (GRCm39) |
|
probably benign |
Het |
| Nup42 |
T |
C |
5: 24,387,325 (GRCm39) |
S372P |
probably benign |
Het |
| Pde6a |
A |
G |
18: 61,364,575 (GRCm39) |
|
probably benign |
Het |
| Pip |
A |
G |
6: 41,828,871 (GRCm39) |
T139A |
probably benign |
Het |
| Rel |
A |
T |
11: 23,695,780 (GRCm39) |
D202E |
probably damaging |
Het |
| Rhot2 |
A |
G |
17: 26,059,955 (GRCm39) |
|
probably benign |
Het |
| Sh3rf3 |
G |
A |
10: 58,922,685 (GRCm39) |
R587Q |
possibly damaging |
Het |
| Sim1 |
T |
A |
10: 50,785,624 (GRCm39) |
M231K |
probably damaging |
Het |
| Slc12a9 |
G |
A |
5: 137,330,759 (GRCm39) |
T47M |
probably damaging |
Het |
| Slc4a4 |
A |
G |
5: 89,382,663 (GRCm39) |
D1036G |
probably benign |
Het |
| Tas2r143 |
A |
T |
6: 42,377,997 (GRCm39) |
I276F |
probably benign |
Het |
| Tgfbr3 |
A |
T |
5: 107,288,485 (GRCm39) |
F392Y |
possibly damaging |
Het |
| Tmem266 |
T |
C |
9: 55,307,918 (GRCm39) |
V148A |
probably damaging |
Het |
| Ubiad1 |
A |
G |
4: 148,520,817 (GRCm39) |
I269T |
probably benign |
Het |
| Vwc2l |
A |
G |
1: 70,768,041 (GRCm39) |
|
probably null |
Het |
| Zbtb49 |
G |
A |
5: 38,357,975 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATACGCTGTTAATGACCCGGTAAC -3'
(R):5'- CTGAAGGAAGCCTTTGTCAGG -3'
Sequencing Primer
(F):5'- CCGGTAACAGGTGATTGCG -3'
(R):5'- TTGTCAGGAACCTCAGTGGGAC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation