Incidental Mutation 'IGL00668:Pigk'
ID |
13687 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pigk
|
Ensembl Gene |
ENSMUSG00000039047 |
Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class K |
Synonyms |
3000001O05Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.859)
|
Stock # |
IGL00668
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
152419718-152548705 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 152448173 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 179
(T179A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123899
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045029]
[ENSMUST00000159899]
[ENSMUST00000161596]
[ENSMUST00000162642]
[ENSMUST00000200224]
|
AlphaFold |
Q9CXY9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045029
AA Change: T226A
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000045351 Gene: ENSMUSG00000039047 AA Change: T226A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
Pfam:Peptidase_C13
|
45 |
183 |
2.4e-25 |
PFAM |
Pfam:Peptidase_C13
|
203 |
353 |
2.2e-17 |
PFAM |
transmembrane domain
|
411 |
430 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000051510
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159045
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159899
AA Change: T179A
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000123772 Gene: ENSMUSG00000039047 AA Change: T179A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
Pfam:Peptidase_C13
|
45 |
306 |
1.6e-47 |
PFAM |
transmembrane domain
|
364 |
383 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161596
AA Change: T179A
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000123753 Gene: ENSMUSG00000039047 AA Change: T179A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
Pfam:Peptidase_C13
|
45 |
306 |
5.5e-48 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162642
AA Change: T179A
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000123899 Gene: ENSMUSG00000039047 AA Change: T179A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
Pfam:Peptidase_C13
|
45 |
306 |
1.5e-47 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162835
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200224
|
SMART Domains |
Protein: ENSMUSP00000142966 Gene: ENSMUSG00000039047
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cysteine protease family C13 that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is a member of the multisubunit enzyme, GPI transamidase and is thought to be its enzymatic component. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 14 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Csmd3 |
A |
T |
15: 47,777,341 (GRCm39) |
D1188E |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 50,072,620 (GRCm39) |
L2726P |
possibly damaging |
Het |
Dync2i1 |
T |
C |
12: 116,221,048 (GRCm39) |
H21R |
probably benign |
Het |
Il23r |
T |
C |
6: 67,400,612 (GRCm39) |
T573A |
probably damaging |
Het |
Lima1 |
A |
T |
15: 99,700,038 (GRCm39) |
V147E |
possibly damaging |
Het |
Med12 |
T |
C |
X: 100,324,792 (GRCm39) |
S666P |
probably benign |
Het |
Mpo |
A |
G |
11: 87,688,160 (GRCm39) |
N273S |
probably benign |
Het |
Phf20l1 |
T |
A |
15: 66,504,698 (GRCm39) |
Y780N |
probably damaging |
Het |
Sec23b |
A |
G |
2: 144,401,138 (GRCm39) |
|
probably benign |
Het |
Setbp1 |
T |
C |
18: 78,900,985 (GRCm39) |
E894G |
probably damaging |
Het |
Slc38a11 |
T |
A |
2: 65,184,126 (GRCm39) |
D175V |
probably damaging |
Het |
Sptan1 |
G |
A |
2: 29,883,968 (GRCm39) |
|
probably null |
Het |
Tsbp1 |
A |
G |
17: 34,639,394 (GRCm39) |
|
probably benign |
Het |
Wmp |
T |
A |
X: 106,990,802 (GRCm39) |
Y37F |
possibly damaging |
Het |
|
Other mutations in Pigk |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00323:Pigk
|
APN |
3 |
152,453,269 (GRCm39) |
nonsense |
probably null |
|
IGL01335:Pigk
|
APN |
3 |
152,448,173 (GRCm39) |
missense |
probably benign |
0.30 |
IGL01657:Pigk
|
APN |
3 |
152,428,157 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01813:Pigk
|
APN |
3 |
152,448,156 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02426:Pigk
|
APN |
3 |
152,448,120 (GRCm39) |
splice site |
probably null |
|
IGL02871:Pigk
|
APN |
3 |
152,472,153 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02963:Pigk
|
APN |
3 |
152,472,098 (GRCm39) |
nonsense |
probably null |
|
R0135:Pigk
|
UTSW |
3 |
152,450,343 (GRCm39) |
splice site |
probably benign |
|
R1750:Pigk
|
UTSW |
3 |
152,450,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R1766:Pigk
|
UTSW |
3 |
152,445,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R1990:Pigk
|
UTSW |
3 |
152,450,131 (GRCm39) |
missense |
probably damaging |
1.00 |
R1991:Pigk
|
UTSW |
3 |
152,450,131 (GRCm39) |
missense |
probably damaging |
1.00 |
R2010:Pigk
|
UTSW |
3 |
152,472,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R2864:Pigk
|
UTSW |
3 |
152,428,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R3883:Pigk
|
UTSW |
3 |
152,419,832 (GRCm39) |
missense |
probably benign |
0.00 |
R4153:Pigk
|
UTSW |
3 |
152,445,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R4730:Pigk
|
UTSW |
3 |
152,448,203 (GRCm39) |
nonsense |
probably null |
|
R4911:Pigk
|
UTSW |
3 |
152,445,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R4942:Pigk
|
UTSW |
3 |
152,450,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R5323:Pigk
|
UTSW |
3 |
152,443,837 (GRCm39) |
missense |
probably damaging |
1.00 |
R5655:Pigk
|
UTSW |
3 |
152,445,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R5941:Pigk
|
UTSW |
3 |
152,472,150 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5986:Pigk
|
UTSW |
3 |
152,446,486 (GRCm39) |
missense |
probably benign |
0.00 |
R6391:Pigk
|
UTSW |
3 |
152,446,486 (GRCm39) |
missense |
probably benign |
|
R7182:Pigk
|
UTSW |
3 |
152,428,188 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7349:Pigk
|
UTSW |
3 |
152,453,238 (GRCm39) |
missense |
probably benign |
0.04 |
R7947:Pigk
|
UTSW |
3 |
152,453,404 (GRCm39) |
missense |
probably benign |
0.00 |
R7971:Pigk
|
UTSW |
3 |
152,450,176 (GRCm39) |
missense |
probably benign |
0.26 |
R8915:Pigk
|
UTSW |
3 |
152,472,098 (GRCm39) |
missense |
probably benign |
0.00 |
R8932:Pigk
|
UTSW |
3 |
152,445,871 (GRCm39) |
missense |
possibly damaging |
0.64 |
Z1177:Pigk
|
UTSW |
3 |
152,472,109 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2012-12-06 |