Incidental Mutation 'R3693:Pigw'
ID |
268866 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pigw
|
Ensembl Gene |
ENSMUSG00000045140 |
Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class W |
Synonyms |
2610044A17Rik, Gwt1 |
MMRRC Submission |
040688-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
R3693 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
84767141-84771111 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 84769209 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 40
(I40T)
|
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: I40T
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000064547 Gene: ENSMUSG00000045140 AA Change: I40T
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: I40T
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000103715 Gene: ENSMUSG00000045140 AA Change: I40T
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 |
0.0637 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
97% (37/38) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010106E10Rik |
A |
T |
X: 111,466,012 (GRCm39) |
L187F |
probably damaging |
Het |
Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
Cabp2 |
A |
G |
19: 4,133,593 (GRCm39) |
T12A |
probably benign |
Het |
Ccdc158 |
T |
C |
5: 92,757,904 (GRCm39) |
E1056G |
probably damaging |
Het |
Cdhr2 |
A |
G |
13: 54,874,229 (GRCm39) |
Y767C |
probably damaging |
Het |
Ces2e |
A |
G |
8: 105,655,443 (GRCm39) |
D122G |
probably damaging |
Het |
Cherp |
TTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTG |
8: 73,221,755 (GRCm39) |
|
probably benign |
Het |
Chsy3 |
A |
T |
18: 59,309,080 (GRCm39) |
Q111L |
possibly damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Cyp11b2 |
C |
T |
15: 74,727,857 (GRCm39) |
R75Q |
probably benign |
Het |
Dnaja2 |
T |
C |
8: 86,273,249 (GRCm39) |
K223E |
probably damaging |
Het |
Dtx3 |
T |
C |
10: 127,027,293 (GRCm39) |
I294V |
probably benign |
Het |
Eps15l1 |
A |
G |
8: 73,152,904 (GRCm39) |
|
probably benign |
Het |
Exd2 |
A |
G |
12: 80,527,467 (GRCm39) |
Y220C |
probably damaging |
Het |
Eya1 |
A |
G |
1: 14,299,725 (GRCm39) |
Y343H |
probably damaging |
Het |
Hif3a |
T |
C |
7: 16,774,999 (GRCm39) |
E533G |
probably damaging |
Het |
Kalrn |
T |
A |
16: 34,177,685 (GRCm39) |
Y178F |
probably damaging |
Het |
Mageb4 |
G |
T |
X: 85,296,000 (GRCm39) |
R10S |
probably damaging |
Het |
Muc6 |
A |
G |
7: 141,234,946 (GRCm39) |
|
probably benign |
Het |
Myh11 |
C |
A |
16: 14,035,813 (GRCm39) |
E1038D |
probably benign |
Het |
Nfxl1 |
T |
C |
5: 72,697,954 (GRCm39) |
Y297C |
probably damaging |
Het |
Nop14 |
T |
C |
5: 34,811,782 (GRCm39) |
K202E |
probably damaging |
Het |
Or5b112 |
T |
C |
19: 13,319,893 (GRCm39) |
I257T |
possibly damaging |
Het |
Osbpl8 |
T |
A |
10: 111,105,297 (GRCm39) |
S251T |
probably benign |
Het |
Pcdha1 |
A |
T |
18: 37,065,361 (GRCm39) |
K675I |
possibly damaging |
Het |
Pip5k1a |
A |
T |
3: 94,985,498 (GRCm39) |
|
probably benign |
Het |
Ptprh |
G |
T |
7: 4,557,234 (GRCm39) |
Q687K |
probably damaging |
Het |
Rbm4 |
A |
G |
19: 4,837,411 (GRCm39) |
Y358H |
probably damaging |
Het |
Rft1 |
T |
A |
14: 30,412,408 (GRCm39) |
C490S |
probably damaging |
Het |
Rims2 |
A |
T |
15: 39,341,971 (GRCm39) |
T887S |
probably benign |
Het |
Ripk2 |
A |
T |
4: 16,127,695 (GRCm39) |
L349Q |
probably benign |
Het |
Strn |
T |
C |
17: 78,964,421 (GRCm39) |
N515D |
probably damaging |
Het |
Stxbp5l |
A |
T |
16: 37,061,708 (GRCm39) |
Y367* |
probably null |
Het |
Tas2r143 |
G |
A |
6: 42,377,910 (GRCm39) |
V247I |
probably benign |
Het |
Togaram1 |
A |
T |
12: 65,030,283 (GRCm39) |
Y1029F |
probably benign |
Het |
Ugt1a6b |
A |
G |
1: 88,035,516 (GRCm39) |
T285A |
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 |
R3617:Pigw
|
UTSW |
11 |
84,769,133 (GRCm39) |
missense |
probably damaging |
0.98 |
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'- GTATATCTGATACAACAGCCATGCC -3'
(R):5'- TCTGCCCACATGTGTGTCTG -3'
Sequencing Primer
(F):5'- CCCCCAGACAATCACAGTGAG -3'
(R):5'- TACAGACAGGTGTGAGCTTCC -3'
|
Posted On |
2015-02-19 |