Incidental Mutation 'R6618:Pigs'
| ID |
524221 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pigs
|
| Ensembl Gene |
ENSMUSG00000041958 |
| Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class S |
| Synonyms |
LOC276846, LOC245087 |
| MMRRC Submission |
044741-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.912)
|
| Stock # |
R6618 (G1)
|
| Quality Score |
157.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78219272-78233602 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78232056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 396
(L396P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002127]
[ENSMUST00000048073]
[ENSMUST00000108295]
|
| AlphaFold |
Q6PD26 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002127
|
| SMART Domains |
Protein: ENSMUSP00000002127
Gene: ENSMUSG00000002058
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
54 |
N/A |
INTRINSIC |
|
Pfam:GMP_PDE_delta
|
78 |
237 |
1.6e-81 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048073
AA Change: L396P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044871
Gene: ENSMUSG00000041958
AA Change: L396P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PIG-S
|
22 |
547 |
3.3e-144 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108295
|
| SMART Domains |
Protein: ENSMUSP00000103930
Gene: ENSMUSG00000002058
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
54 |
N/A |
INTRINSIC |
|
Pfam:GMP_PDE_delta
|
80 |
212 |
1.3e-60 |
PFAM |
|
Pfam:GMP_PDE_delta
|
218 |
258 |
1.5e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149161
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154700
|
| Meta Mutation Damage Score |
0.9650 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (37/37) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp1b2 |
T |
C |
11: 69,494,289 (GRCm39) |
D68G |
probably damaging |
Het |
| Barx2 |
G |
A |
9: 31,758,168 (GRCm39) |
L257F |
probably benign |
Het |
| Bbx |
C |
G |
16: 50,086,626 (GRCm39) |
W90S |
probably damaging |
Het |
| Bmp1 |
T |
A |
14: 70,728,808 (GRCm39) |
D588V |
probably damaging |
Het |
| Caskin2 |
C |
T |
11: 115,690,855 (GRCm39) |
M1188I |
possibly damaging |
Het |
| Ccdc180 |
T |
A |
4: 45,950,708 (GRCm39) |
I1651N |
probably damaging |
Het |
| Cimip2a |
C |
A |
2: 25,110,635 (GRCm39) |
L148M |
probably benign |
Het |
| Cr2 |
T |
C |
1: 194,839,687 (GRCm39) |
D580G |
probably damaging |
Het |
| Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
| Fam204a |
T |
C |
19: 60,209,069 (GRCm39) |
|
probably null |
Het |
| Fam83h |
T |
C |
15: 75,875,360 (GRCm39) |
D659G |
probably damaging |
Het |
| Garin3 |
A |
G |
11: 46,298,126 (GRCm39) |
T477A |
probably damaging |
Het |
| Hells |
G |
T |
19: 38,945,528 (GRCm39) |
R589L |
probably benign |
Het |
| Helz |
A |
G |
11: 107,489,976 (GRCm39) |
T144A |
probably benign |
Het |
| Il1r1 |
T |
A |
1: 40,339,971 (GRCm39) |
V258D |
probably damaging |
Het |
| Isoc2a |
A |
T |
7: 4,898,325 (GRCm39) |
I183F |
probably benign |
Het |
| Kat2a |
G |
T |
11: 100,603,196 (GRCm39) |
|
probably benign |
Het |
| Klf9 |
A |
G |
19: 23,142,235 (GRCm39) |
M232V |
probably benign |
Het |
| Lars1 |
G |
T |
18: 42,377,973 (GRCm39) |
S147R |
possibly damaging |
Het |
| Mkrn3 |
A |
G |
7: 62,068,781 (GRCm39) |
F337L |
probably benign |
Het |
| Mrc2 |
A |
T |
11: 105,240,708 (GRCm39) |
N1466I |
probably damaging |
Het |
| Myo5c |
G |
A |
9: 75,182,919 (GRCm39) |
|
probably null |
Het |
| Prkcb |
G |
A |
7: 122,226,886 (GRCm39) |
R624Q |
probably benign |
Het |
| R3hdm1 |
T |
C |
1: 128,121,302 (GRCm39) |
S269P |
probably benign |
Het |
| Racgap1 |
A |
T |
15: 99,521,875 (GRCm39) |
I505K |
probably damaging |
Het |
| Ralgds |
T |
A |
2: 28,440,523 (GRCm39) |
D777E |
probably benign |
Het |
| Rdh14 |
A |
G |
12: 10,445,123 (GRCm39) |
I325V |
probably benign |
Het |
| Rpn2 |
T |
A |
2: 157,163,781 (GRCm39) |
H624Q |
probably benign |
Het |
| Scarb1 |
C |
T |
5: 125,381,394 (GRCm39) |
S50N |
probably damaging |
Het |
| Shmt1 |
T |
C |
11: 60,683,772 (GRCm39) |
|
probably null |
Het |
| Slc49a3 |
G |
T |
5: 108,590,964 (GRCm39) |
T400K |
probably benign |
Het |
| Smim24 |
A |
G |
10: 81,229,966 (GRCm39) |
N27S |
possibly damaging |
Het |
| Snx13 |
A |
G |
12: 35,162,444 (GRCm39) |
D550G |
probably damaging |
Het |
| Tnfsf18 |
T |
A |
1: 161,322,349 (GRCm39) |
L23* |
probably null |
Het |
| Trpc3 |
T |
A |
3: 36,694,844 (GRCm39) |
K703N |
possibly damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Zfy2 |
A |
G |
Y: 2,121,477 (GRCm39) |
S139P |
probably benign |
Homo |
|
| 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 |
|
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 |
|
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'- ACTAAACTAAGTTGGGGCTCCC -3'
(R):5'- CAATGTTGCTGATCTTCCCCAG -3'
Sequencing Primer
(F):5'- GGGGCTCCCAGAAACACTTC -3'
(R):5'- CAGAAGCTGGGCCAGGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation