Incidental Mutation 'R4153:Pigk'
| ID |
368380 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pigk
|
| Ensembl Gene |
ENSMUSG00000039047 |
| Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class K |
| Synonyms |
3000001O05Rik |
| MMRRC Submission |
040997-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.859)
|
| Stock # |
R4153 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
152419718-152548705 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 152445766 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 126
(V126I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045029]
[ENSMUST00000159899]
[ENSMUST00000161596]
[ENSMUST00000162642]
[ENSMUST00000200224]
|
| AlphaFold |
Q9CXY9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045029
AA Change: V126I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045351
Gene: ENSMUSG00000039047
AA Change: V126I
| 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 |
probably damaging
Transcript: ENSMUST00000159899
AA Change: V126I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123772
Gene: ENSMUSG00000039047
AA Change: V126I
| 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 damaging
Transcript: ENSMUST00000161596
AA Change: V126I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123753
Gene: ENSMUSG00000039047
AA Change: V126I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_C13
|
45 |
306 |
5.5e-48 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162642
AA Change: V126I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123899
Gene: ENSMUSG00000039047
AA Change: V126I
| 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 |
|
| Meta Mutation Damage Score |
0.6289 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
96% (53/55) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,341,292 (GRCm39) |
V47A |
probably benign |
Het |
| 4932414N04Rik |
A |
T |
2: 68,498,941 (GRCm39) |
|
probably benign |
Het |
| Acat2 |
T |
A |
17: 13,171,153 (GRCm39) |
H159L |
possibly damaging |
Het |
| Acsl5 |
A |
G |
19: 55,269,895 (GRCm39) |
E253G |
probably benign |
Het |
| Adam34l |
T |
A |
8: 44,079,564 (GRCm39) |
Y220F |
probably benign |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Ebf2 |
T |
G |
14: 67,472,672 (GRCm39) |
V30G |
probably damaging |
Het |
| Erlin1 |
T |
A |
19: 44,056,056 (GRCm39) |
T60S |
probably benign |
Het |
| Fanca |
A |
G |
8: 124,031,617 (GRCm39) |
V358A |
possibly damaging |
Het |
| Fastkd3 |
T |
C |
13: 68,738,257 (GRCm39) |
F602S |
probably damaging |
Het |
| Fras1 |
C |
A |
5: 96,924,594 (GRCm39) |
N3678K |
probably benign |
Het |
| Gopc |
T |
C |
10: 52,225,239 (GRCm39) |
I277V |
probably damaging |
Het |
| Gpd2 |
A |
G |
2: 57,245,783 (GRCm39) |
T438A |
probably damaging |
Het |
| Gzma |
T |
C |
13: 113,232,802 (GRCm39) |
K97E |
possibly damaging |
Het |
| Gzmn |
T |
A |
14: 56,405,299 (GRCm39) |
T62S |
probably damaging |
Het |
| Hip1 |
T |
C |
5: 135,441,560 (GRCm39) |
E570G |
probably damaging |
Het |
| Hs3st6 |
T |
C |
17: 24,977,339 (GRCm39) |
V273A |
possibly damaging |
Het |
| Jarid2 |
C |
A |
13: 45,063,902 (GRCm39) |
S873R |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Mast2 |
T |
C |
4: 116,173,160 (GRCm39) |
N548S |
possibly damaging |
Het |
| Mthfr |
G |
T |
4: 148,135,932 (GRCm39) |
R335L |
probably damaging |
Het |
| Ndst3 |
T |
C |
3: 123,465,876 (GRCm39) |
Y32C |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 73,408,564 (GRCm39) |
L808P |
probably damaging |
Het |
| Or52b1 |
T |
C |
7: 104,978,592 (GRCm39) |
N269S |
probably damaging |
Het |
| Or56a3b |
A |
T |
7: 104,771,516 (GRCm39) |
H284L |
probably damaging |
Het |
| Or8g52 |
A |
C |
9: 39,631,296 (GRCm39) |
M258L |
probably benign |
Het |
| Pgk2 |
A |
G |
17: 40,519,149 (GRCm39) |
V93A |
probably damaging |
Het |
| Plcl2 |
A |
T |
17: 50,913,389 (GRCm39) |
K133* |
probably null |
Het |
| Pofut2 |
A |
G |
10: 77,104,500 (GRCm39) |
K426E |
probably benign |
Het |
| Rbpj |
T |
A |
5: 53,806,789 (GRCm39) |
H230Q |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,300,308 (GRCm39) |
K269E |
probably benign |
Het |
| Shh |
A |
T |
5: 28,662,947 (GRCm39) |
I407N |
probably damaging |
Het |
| Sntg1 |
A |
T |
1: 8,653,569 (GRCm39) |
|
probably null |
Het |
| Svep1 |
A |
T |
4: 58,089,426 (GRCm39) |
F1661Y |
possibly damaging |
Het |
| Tep1 |
G |
A |
14: 51,075,051 (GRCm39) |
H1755Y |
possibly damaging |
Het |
| Thrap3 |
A |
C |
4: 126,067,235 (GRCm39) |
|
probably null |
Het |
| Thumpd1 |
C |
T |
7: 119,319,816 (GRCm39) |
C50Y |
probably damaging |
Het |
| Tmem131 |
T |
C |
1: 36,847,874 (GRCm39) |
|
probably benign |
Het |
| Tnrc18 |
T |
C |
5: 142,751,747 (GRCm39) |
D1368G |
possibly damaging |
Het |
| Tubd1 |
G |
A |
11: 86,440,296 (GRCm39) |
G107S |
probably damaging |
Het |
| Ugt1a6a |
A |
G |
1: 88,066,193 (GRCm39) |
|
probably null |
Het |
| Uty |
A |
G |
Y: 1,158,327 (GRCm39) |
V572A |
possibly damaging |
Het |
| Vmn1r171 |
A |
G |
7: 23,332,077 (GRCm39) |
K89E |
probably damaging |
Het |
| Vmn2r100 |
AAAACAGGAGTATTGATTGGAAAC |
AAAAC |
17: 19,743,681 (GRCm39) |
|
probably null |
Het |
| Vmn2r106 |
A |
G |
17: 20,488,080 (GRCm39) |
L773P |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,792,173 (GRCm39) |
|
probably null |
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 |
|
|
IGL00668:Pigk
|
APN |
3 |
152,448,173 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCCTAAGGCGTTTCTTCC -3'
(R):5'- TTACCGGGTTCCATTTGATCATG -3'
Sequencing Primer
(F):5'- GCTGTATAGCCCAGTCTGG -3'
(R):5'- TCTGTCGTCGGAAAGAAG -3'
|
| Posted On |
2016-02-03 |
Incidental Mutation