Incidental Mutation 'IGL02055:Pigm'
| ID |
185193 |
| 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 # |
IGL02055
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
172204113-172211666 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 172204732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 156
(S156L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052455]
[ENSMUST00000056136]
|
| AlphaFold |
Q8C2R7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052455
AA Change: S156L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000052838
Gene: ENSMUSG00000050229
AA Change: S156L
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap1b1 |
T |
A |
11: 4,974,452 (GRCm39) |
C353* |
probably null |
Het |
| Asl |
C |
T |
5: 130,041,891 (GRCm39) |
G309R |
possibly damaging |
Het |
| B4galnt4 |
T |
C |
7: 140,650,731 (GRCm39) |
F835S |
probably damaging |
Het |
| Bltp2 |
A |
G |
11: 78,177,457 (GRCm39) |
T1921A |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,423,539 (GRCm39) |
|
probably benign |
Het |
| Ccnt2 |
C |
A |
1: 127,719,447 (GRCm39) |
P116T |
possibly damaging |
Het |
| Clcn1 |
T |
G |
6: 42,284,489 (GRCm39) |
M609R |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 16,119,015 (GRCm39) |
I1858T |
probably damaging |
Het |
| Eefsec |
T |
C |
6: 88,353,385 (GRCm39) |
I95V |
probably damaging |
Het |
| Galk2 |
A |
G |
2: 125,773,324 (GRCm39) |
K252R |
probably benign |
Het |
| Gbp2 |
A |
T |
3: 142,337,991 (GRCm39) |
N369I |
probably benign |
Het |
| Glis2 |
G |
T |
16: 4,431,972 (GRCm39) |
|
probably benign |
Het |
| Igdcc3 |
T |
C |
9: 65,088,562 (GRCm39) |
V388A |
possibly damaging |
Het |
| Klhl1 |
A |
G |
14: 96,517,539 (GRCm39) |
F379S |
possibly damaging |
Het |
| Or5b12 |
T |
A |
19: 12,896,930 (GRCm39) |
I248F |
possibly damaging |
Het |
| Pikfyve |
T |
C |
1: 65,277,703 (GRCm39) |
|
probably null |
Het |
| Ppp6r3 |
A |
G |
19: 3,571,781 (GRCm39) |
F123L |
probably benign |
Het |
| Pum1 |
C |
A |
4: 130,481,365 (GRCm39) |
S637R |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,422,745 (GRCm39) |
S112P |
probably damaging |
Het |
| Serpina3k |
A |
T |
12: 104,307,295 (GRCm39) |
K176* |
probably null |
Het |
| Smad4 |
A |
G |
18: 73,774,999 (GRCm39) |
|
probably benign |
Het |
| Tas2r140 |
T |
A |
6: 40,468,493 (GRCm39) |
F108I |
probably damaging |
Het |
| Tbc1d20 |
G |
A |
2: 152,149,978 (GRCm39) |
R73H |
probably damaging |
Het |
| Tmem131l |
T |
C |
3: 83,817,673 (GRCm39) |
|
probably null |
Het |
| Tmem86b |
A |
C |
7: 4,631,762 (GRCm39) |
|
probably benign |
Het |
| Trav6-4 |
G |
A |
14: 53,692,237 (GRCm39) |
V115I |
probably benign |
Het |
| Trim37 |
T |
G |
11: 87,057,475 (GRCm39) |
V303G |
probably benign |
Het |
| Trpc7 |
C |
T |
13: 57,035,357 (GRCm39) |
R192Q |
probably benign |
Het |
| Ush1g |
T |
C |
11: 115,208,925 (GRCm39) |
D423G |
possibly damaging |
Het |
| Veph1 |
T |
A |
3: 66,113,048 (GRCm39) |
D252V |
possibly damaging |
Het |
| Vmn1r181 |
T |
G |
7: 23,683,978 (GRCm39) |
L148V |
probably damaging |
Het |
| Vmn1r42 |
T |
C |
6: 89,822,571 (GRCm39) |
|
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,450,763 (GRCm39) |
H216Q |
probably benign |
Het |
| Zfp39 |
A |
G |
11: 58,782,156 (GRCm39) |
V202A |
probably benign |
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 |
|
IGL02129:Pigm
|
APN |
1 |
172,205,434 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2014-05-07 |
Incidental Mutation