Incidental Mutation 'R1027:Pigs'
ID |
96884 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pigs
|
Ensembl Gene |
ENSMUSG00000041958 |
Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class S |
Synonyms |
LOC276846, LOC245087 |
MMRRC Submission |
039129-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.918)
|
Stock # |
R1027 (G1)
|
Quality Score |
214 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
78219272-78233602 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 78227651 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 272
(S272P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044871
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048073]
|
AlphaFold |
Q6PD26 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048073
AA Change: S272P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044871 Gene: ENSMUSG00000041958 AA Change: S272P
Domain | Start | End | E-Value | Type |
Pfam:PIG-S
|
22 |
547 |
3.3e-144 |
PFAM |
|
Meta Mutation Damage Score |
0.9657 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 89.0%
|
Validation Efficiency |
94% (31/33) |
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts10 |
G |
T |
17: 33,762,737 (GRCm39) |
R572L |
probably benign |
Het |
Adamts16 |
A |
T |
13: 70,915,921 (GRCm39) |
V838E |
probably damaging |
Het |
Arfgef3 |
T |
C |
10: 18,467,123 (GRCm39) |
R2026G |
probably benign |
Het |
Arl16 |
G |
A |
11: 120,356,522 (GRCm39) |
A159V |
probably benign |
Het |
Astn1 |
G |
T |
1: 158,407,849 (GRCm39) |
R602L |
probably damaging |
Het |
Dennd1b |
T |
C |
1: 138,969,700 (GRCm39) |
V72A |
probably damaging |
Het |
Filip1l |
A |
G |
16: 57,390,051 (GRCm39) |
E213G |
probably benign |
Het |
Gm10985 |
A |
C |
3: 53,752,674 (GRCm39) |
Y19S |
probably damaging |
Het |
Gm4076 |
T |
C |
13: 85,275,508 (GRCm39) |
|
noncoding transcript |
Het |
Herc1 |
T |
C |
9: 66,363,250 (GRCm39) |
V2691A |
probably benign |
Het |
Hid1 |
A |
C |
11: 115,246,251 (GRCm39) |
F340V |
probably damaging |
Het |
Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
Kif16b |
T |
C |
2: 142,696,458 (GRCm39) |
|
probably benign |
Het |
Map9 |
A |
T |
3: 82,284,401 (GRCm39) |
D325V |
probably damaging |
Het |
Mtor |
A |
G |
4: 148,624,456 (GRCm39) |
M2079V |
probably benign |
Het |
Nop14 |
A |
G |
5: 34,801,348 (GRCm39) |
S608P |
probably damaging |
Het |
Or5p62 |
A |
T |
7: 107,771,348 (GRCm39) |
V201D |
probably damaging |
Het |
Pcm1 |
T |
C |
8: 41,746,482 (GRCm39) |
|
probably benign |
Het |
Plekhh1 |
T |
C |
12: 79,101,256 (GRCm39) |
|
probably benign |
Het |
Prkdc |
A |
G |
16: 15,468,576 (GRCm39) |
D129G |
possibly damaging |
Het |
Rab33b |
T |
C |
3: 51,391,876 (GRCm39) |
S42P |
probably damaging |
Het |
Rnf214 |
C |
T |
9: 45,811,187 (GRCm39) |
V159I |
probably benign |
Het |
Sel1l3 |
A |
T |
5: 53,302,820 (GRCm39) |
M683K |
possibly damaging |
Het |
Sntb2 |
A |
G |
8: 107,718,203 (GRCm39) |
K304E |
probably benign |
Het |
Svep1 |
C |
A |
4: 58,094,084 (GRCm39) |
S1518I |
possibly damaging |
Het |
Tg |
T |
C |
15: 66,544,258 (GRCm39) |
S76P |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,697,777 (GRCm39) |
|
probably benign |
Het |
Zbtb12 |
CTTCAT |
CTTCATTCAT |
17: 35,115,284 (GRCm39) |
|
probably null |
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 |
R1073:Pigs
|
UTSW |
11 |
78,226,431 (GRCm39) |
missense |
probably benign |
0.09 |
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'- TCCCTATCCCATCCAGATGACGTG -3'
(R):5'- CAGTGCTTCCTACAAGCTACATCCC -3'
Sequencing Primer
(F):5'- CATCCAGATGACGTGGGATGTAG -3'
(R):5'- tcaggaggcagaggcag -3'
|
Posted On |
2014-01-05 |