Incidental Mutation 'IGL03280:Pigm'
| ID |
415559 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pigm
|
| Ensembl Gene |
ENSMUSG00000050229 |
| Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class M |
| Synonyms |
C920011G20Rik, 4933437L05Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03280
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
172204113-172211666 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 172204420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 52
(Y52C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052455]
[ENSMUST00000056136]
|
| AlphaFold |
Q8C2R7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052455
AA Change: Y52C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052838
Gene: ENSMUSG00000050229
AA Change: Y52C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PIG-U
|
24 |
411 |
7.4e-18 |
PFAM |
|
Pfam:Mannosyl_trans
|
140 |
408 |
9.8e-113 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056136
|
| SMART Domains |
Protein: ENSMUSP00000054356
Gene: ENSMUSG00000044708
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
31 |
363 |
2.2e-136 |
PFAM |
|
| 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 transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI)-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a mannosyltransferase, GPI-MT-I, that transfers the first mannose to GPI on the lumenal side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb4 |
T |
C |
6: 5,423,416 (GRCm39) |
S188P |
probably benign |
Het |
| Bbs5 |
A |
G |
2: 69,497,315 (GRCm39) |
|
probably benign |
Het |
| Cdh13 |
G |
T |
8: 120,040,873 (GRCm39) |
G693W |
probably damaging |
Het |
| Cdh20 |
T |
A |
1: 110,036,498 (GRCm39) |
Y559* |
probably null |
Het |
| Cemip |
G |
A |
7: 83,636,538 (GRCm39) |
|
probably benign |
Het |
| Crem |
A |
G |
18: 3,273,415 (GRCm39) |
|
probably benign |
Het |
| Crygf |
A |
G |
1: 65,967,329 (GRCm39) |
Y151C |
probably damaging |
Het |
| Dcp1b |
T |
C |
6: 119,157,019 (GRCm39) |
|
probably benign |
Het |
| Fanca |
A |
G |
8: 124,043,198 (GRCm39) |
|
probably benign |
Het |
| Fkbp15 |
A |
C |
4: 62,221,504 (GRCm39) |
|
probably benign |
Het |
| Gabrp |
C |
T |
11: 33,502,616 (GRCm39) |
R416Q |
probably benign |
Het |
| Iho1 |
T |
C |
9: 108,282,099 (GRCm39) |
S530G |
possibly damaging |
Het |
| Impg2 |
T |
A |
16: 56,088,631 (GRCm39) |
Y1052* |
probably null |
Het |
| Isg15 |
T |
C |
4: 156,284,319 (GRCm39) |
M70V |
probably benign |
Het |
| Krit1 |
T |
A |
5: 3,861,248 (GRCm39) |
|
probably benign |
Het |
| Lrrn3 |
T |
C |
12: 41,504,146 (GRCm39) |
D57G |
probably damaging |
Het |
| Macrod1 |
A |
G |
19: 7,174,937 (GRCm39) |
E309G |
possibly damaging |
Het |
| Notch1 |
A |
T |
2: 26,367,886 (GRCm39) |
|
probably benign |
Het |
| Nptx1 |
T |
C |
11: 119,435,555 (GRCm39) |
T254A |
probably damaging |
Het |
| Or12e9 |
A |
T |
2: 87,202,467 (GRCm39) |
D197V |
probably damaging |
Het |
| Pramel27 |
A |
T |
4: 143,578,489 (GRCm39) |
T250S |
possibly damaging |
Het |
| Rif1 |
A |
G |
2: 52,002,611 (GRCm39) |
T2022A |
probably benign |
Het |
| Rint1 |
T |
A |
5: 24,022,076 (GRCm39) |
L646Q |
probably damaging |
Het |
| Rpe65 |
A |
T |
3: 159,309,978 (GRCm39) |
I84F |
probably damaging |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Scnn1a |
T |
C |
6: 125,319,744 (GRCm39) |
|
probably benign |
Het |
| Selenop |
T |
C |
15: 3,310,104 (GRCm39) |
|
probably benign |
Het |
| Siglecf |
T |
G |
7: 43,005,354 (GRCm39) |
V438G |
probably benign |
Het |
| St8sia4 |
T |
A |
1: 95,581,499 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
T |
C |
17: 48,096,862 (GRCm39) |
F43S |
probably benign |
Het |
| Tgm6 |
A |
G |
2: 129,980,851 (GRCm39) |
Y216C |
probably damaging |
Het |
| Try10 |
T |
A |
6: 41,331,154 (GRCm39) |
V10E |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,728,811 (GRCm39) |
C1234* |
probably null |
Het |
| Ugt2a3 |
G |
A |
5: 87,484,439 (GRCm39) |
P195L |
probably damaging |
Het |
| Usp24 |
T |
G |
4: 106,237,627 (GRCm39) |
I1095R |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,304,897 (GRCm39) |
H377Y |
probably damaging |
Het |
|
| Other mutations in Pigm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01800:Pigm
|
APN |
1 |
172,204,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02055:Pigm
|
APN |
1 |
172,204,732 (GRCm39) |
missense |
probably benign |
|
|
IGL02129:Pigm
|
APN |
1 |
172,205,434 (GRCm39) |
nonsense |
probably null |
|
|
IGL02888:Pigm
|
APN |
1 |
172,205,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0725:Pigm
|
UTSW |
1 |
172,204,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1371:Pigm
|
UTSW |
1 |
172,204,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1691:Pigm
|
UTSW |
1 |
172,204,354 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1991:Pigm
|
UTSW |
1 |
172,204,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2089:Pigm
|
UTSW |
1 |
172,205,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:Pigm
|
UTSW |
1 |
172,205,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:Pigm
|
UTSW |
1 |
172,205,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5718:Pigm
|
UTSW |
1 |
172,205,012 (GRCm39) |
splice site |
probably null |
|
|
R6640:Pigm
|
UTSW |
1 |
172,205,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7070:Pigm
|
UTSW |
1 |
172,205,233 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8273:Pigm
|
UTSW |
1 |
172,205,524 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8883:Pigm
|
UTSW |
1 |
172,205,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0003:Pigm
|
UTSW |
1 |
172,204,303 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation