Incidental Mutation 'R1073:Pigs'
| ID |
85539 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pigs
|
| Ensembl Gene |
ENSMUSG00000041958 |
| Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class S |
| Synonyms |
LOC276846, LOC245087 |
| MMRRC Submission |
039159-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.912)
|
| Stock # |
R1073 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78219272-78233602 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78226431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 216
(D216G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048073]
|
| AlphaFold |
Q6PD26 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048073
AA Change: D216G
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000044871
Gene: ENSMUSG00000041958
AA Change: D216G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PIG-S
|
22 |
547 |
3.3e-144 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.5%
- 20x: 94.5%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes an essential component of the multisubunit enzyme, GPI transamidase. 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap3 |
T |
C |
4: 135,963,742 (GRCm39) |
I334T |
probably damaging |
Het |
| Atxn7l3 |
C |
G |
11: 102,183,261 (GRCm39) |
|
probably benign |
Het |
| Cacna2d3 |
T |
A |
14: 28,767,580 (GRCm39) |
H765L |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 96,030,195 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
C |
T |
8: 16,408,477 (GRCm39) |
|
probably benign |
Het |
| Cux1 |
A |
T |
5: 136,281,395 (GRCm39) |
|
probably null |
Het |
| D7Ertd443e |
T |
C |
7: 133,871,947 (GRCm39) |
K232R |
probably damaging |
Het |
| Dock6 |
A |
G |
9: 21,757,814 (GRCm39) |
S97P |
probably benign |
Het |
| Eml5 |
G |
A |
12: 98,797,232 (GRCm39) |
A1099V |
probably damaging |
Het |
| Gtf2h1 |
G |
A |
7: 46,466,368 (GRCm39) |
A472T |
probably damaging |
Het |
| Krt82 |
T |
A |
15: 101,458,689 (GRCm39) |
D117V |
probably damaging |
Het |
| Lrfn5 |
A |
G |
12: 61,887,595 (GRCm39) |
Y461C |
probably damaging |
Het |
| Mmrn2 |
G |
A |
14: 34,118,251 (GRCm39) |
|
probably null |
Het |
| Mrtfb |
T |
A |
16: 13,230,182 (GRCm39) |
S956T |
possibly damaging |
Het |
| Msrb3 |
T |
A |
10: 120,620,041 (GRCm39) |
S93C |
possibly damaging |
Het |
| Ncl |
AAAGCCTCCC |
AAAGCCTCCCAAGCCTCCC |
1: 86,278,538 (GRCm39) |
|
probably benign |
Het |
| Or8k41 |
A |
G |
2: 86,313,984 (GRCm39) |
I34T |
probably damaging |
Het |
| Osbpl10 |
C |
T |
9: 115,036,621 (GRCm39) |
Q381* |
probably null |
Het |
| Pelp1 |
A |
G |
11: 70,287,416 (GRCm39) |
L464P |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,372,943 (GRCm39) |
|
probably null |
Het |
| Pyroxd1 |
T |
C |
6: 142,294,370 (GRCm39) |
|
probably null |
Het |
| Ros1 |
T |
A |
10: 51,922,221 (GRCm39) |
D2284V |
probably damaging |
Het |
| Rptor |
T |
C |
11: 119,634,717 (GRCm39) |
S178P |
possibly damaging |
Het |
| Slc8a1 |
C |
T |
17: 81,955,836 (GRCm39) |
D401N |
probably damaging |
Het |
| Tas2r143 |
T |
C |
6: 42,377,694 (GRCm39) |
Y175H |
probably benign |
Het |
| Tdrd9 |
T |
C |
12: 111,989,693 (GRCm39) |
S502P |
probably damaging |
Het |
| Tmem38a |
A |
G |
8: 73,333,947 (GRCm39) |
H142R |
probably damaging |
Het |
| Tmem44 |
A |
G |
16: 30,333,651 (GRCm39) |
|
probably benign |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Umod |
A |
G |
7: 119,063,964 (GRCm39) |
V614A |
possibly damaging |
Het |
| Vmn2r5 |
A |
T |
3: 64,398,726 (GRCm39) |
L751* |
probably null |
Het |
| Wdr37 |
A |
T |
13: 8,855,876 (GRCm39) |
I489N |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,246,831 (GRCm39) |
T78A |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,220,272 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pigs |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02404:Pigs
|
APN |
11 |
78,230,857 (GRCm39) |
missense |
probably benign |
|
|
feral
|
UTSW |
11 |
78,227,565 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0094:Pigs
|
UTSW |
11 |
78,230,864 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0490:Pigs
|
UTSW |
11 |
78,226,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1027:Pigs
|
UTSW |
11 |
78,227,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1157:Pigs
|
UTSW |
11 |
78,219,820 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1754:Pigs
|
UTSW |
11 |
78,228,673 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1881:Pigs
|
UTSW |
11 |
78,232,582 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2171:Pigs
|
UTSW |
11 |
78,219,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2386:Pigs
|
UTSW |
11 |
78,223,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4928:Pigs
|
UTSW |
11 |
78,219,828 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5206:Pigs
|
UTSW |
11 |
78,224,549 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5480:Pigs
|
UTSW |
11 |
78,219,901 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5665:Pigs
|
UTSW |
11 |
78,219,595 (GRCm39) |
splice site |
probably null |
|
|
R6039:Pigs
|
UTSW |
11 |
78,232,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6039:Pigs
|
UTSW |
11 |
78,232,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6159:Pigs
|
UTSW |
11 |
78,219,326 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6572:Pigs
|
UTSW |
11 |
78,230,190 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6618:Pigs
|
UTSW |
11 |
78,232,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7052:Pigs
|
UTSW |
11 |
78,232,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7065:Pigs
|
UTSW |
11 |
78,227,565 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7352:Pigs
|
UTSW |
11 |
78,219,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7851:Pigs
|
UTSW |
11 |
78,227,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9408:Pigs
|
UTSW |
11 |
78,230,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGCACAGGACATGATGAGCTAC -3'
(R):5'- TGCCACTGAGGGACCAAAGAGA -3'
Sequencing Primer
(F):5'- ACATGATGAGCTACATTGGGC -3'
(R):5'- actcacaaccatcttcactcc -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation