Incidental Mutation 'IGL02129:Pigm'
| ID |
280974 |
| 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 # |
IGL02129
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
172204113-172211666 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 172205434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 390
(W390*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052455]
[ENSMUST00000056136]
|
| AlphaFold |
Q8C2R7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000052455
AA Change: W390*
|
| SMART Domains |
Protein: ENSMUSP00000052838
Gene: ENSMUSG00000050229
AA Change: W390*
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp1a3 |
T |
A |
7: 24,696,711 (GRCm39) |
H293L |
probably damaging |
Het |
| AU040320 |
A |
G |
4: 126,717,485 (GRCm39) |
Y354C |
probably damaging |
Het |
| Bag4 |
T |
C |
8: 26,258,113 (GRCm39) |
T405A |
probably damaging |
Het |
| Best1 |
T |
A |
19: 9,970,285 (GRCm39) |
Q109L |
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,979,193 (GRCm39) |
T707I |
probably benign |
Het |
| Bora |
G |
A |
14: 99,294,257 (GRCm39) |
|
probably null |
Het |
| Btnl9 |
A |
C |
11: 49,060,100 (GRCm39) |
D464E |
probably damaging |
Het |
| Cebpe |
T |
A |
14: 54,949,070 (GRCm39) |
R116W |
probably damaging |
Het |
| Col6a6 |
T |
C |
9: 105,613,539 (GRCm39) |
|
probably benign |
Het |
| Copb2 |
T |
C |
9: 98,467,976 (GRCm39) |
|
probably benign |
Het |
| Ep300 |
A |
G |
15: 81,470,837 (GRCm39) |
E3G |
unknown |
Het |
| Fam117b |
A |
G |
1: 60,020,582 (GRCm39) |
H484R |
probably benign |
Het |
| Fgb |
T |
A |
3: 82,950,725 (GRCm39) |
K343M |
probably benign |
Het |
| Fkbpl |
C |
T |
17: 34,864,952 (GRCm39) |
T240M |
probably damaging |
Het |
| Gemin6 |
T |
C |
17: 80,535,355 (GRCm39) |
L105P |
probably damaging |
Het |
| Heatr3 |
T |
C |
8: 88,884,899 (GRCm39) |
|
probably benign |
Het |
| Itch |
C |
T |
2: 155,059,908 (GRCm39) |
|
probably benign |
Het |
| Kank3 |
C |
T |
17: 34,036,465 (GRCm39) |
P111L |
probably benign |
Het |
| Mthfsl |
T |
A |
9: 88,597,589 (GRCm39) |
I111F |
probably damaging |
Het |
| Mtor |
A |
T |
4: 148,634,302 (GRCm39) |
M2382L |
possibly damaging |
Het |
| Myh2 |
A |
G |
11: 67,076,084 (GRCm39) |
D757G |
probably benign |
Het |
| Naa35 |
A |
G |
13: 59,757,339 (GRCm39) |
D238G |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,955,432 (GRCm39) |
Y373* |
probably null |
Het |
| Or5an10 |
T |
A |
19: 12,275,822 (GRCm39) |
I225F |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,044,613 (GRCm39) |
V1211A |
probably benign |
Het |
| Sh3yl1 |
T |
A |
12: 30,992,876 (GRCm39) |
|
probably benign |
Het |
| Spg11 |
T |
A |
2: 121,926,167 (GRCm39) |
Q709H |
probably damaging |
Het |
| Spr-ps1 |
A |
G |
6: 85,132,804 (GRCm39) |
|
noncoding transcript |
Het |
| Tc2n |
T |
C |
12: 101,656,048 (GRCm39) |
N208D |
probably damaging |
Het |
| Tdo2 |
C |
T |
3: 81,866,232 (GRCm39) |
V344M |
probably damaging |
Het |
| Ttll1 |
G |
A |
15: 83,368,450 (GRCm39) |
P403S |
probably benign |
Het |
| Usp20 |
T |
C |
2: 30,894,462 (GRCm39) |
V126A |
probably benign |
Het |
| Zfp109 |
T |
C |
7: 23,936,054 (GRCm39) |
T2A |
possibly 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 |
|
|
IGL02888:Pigm
|
APN |
1 |
172,205,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03280:Pigm
|
APN |
1 |
172,204,420 (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 |
2015-04-16 |
Incidental Mutation