Incidental Mutation 'R6640:Pigm'
| ID |
525700 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pigm
|
| Ensembl Gene |
ENSMUSG00000050229 |
| Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class M |
| Synonyms |
C920011G20Rik, 4933437L05Rik |
| MMRRC Submission |
044761-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6640 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
172204113-172211666 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 172205254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 330
(V330A)
|
| 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: V330A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052838
Gene: ENSMUSG00000050229
AA Change: V330A
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
97% (31/32) |
| 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 |
|---|
| A2ml1 |
A |
T |
6: 128,530,248 (GRCm39) |
N936K |
probably benign |
Het |
| Abca2 |
A |
T |
2: 25,337,015 (GRCm39) |
Y2318F |
possibly damaging |
Het |
| Aldh1b1 |
A |
G |
4: 45,803,868 (GRCm39) |
T469A |
possibly damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,954,605 (GRCm39) |
D581G |
probably benign |
Het |
| Ccdc136 |
A |
G |
6: 29,412,959 (GRCm39) |
D382G |
possibly damaging |
Het |
| Dapk1 |
A |
G |
13: 60,864,628 (GRCm39) |
K141E |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,001,276 (GRCm39) |
W3973R |
probably damaging |
Het |
| Dock10 |
G |
T |
1: 80,511,555 (GRCm39) |
S1518* |
probably null |
Het |
| Elovl5 |
C |
A |
9: 77,887,195 (GRCm39) |
Y195* |
probably null |
Het |
| Fbxl21 |
T |
A |
13: 56,684,822 (GRCm39) |
W309R |
probably damaging |
Het |
| Gm10801 |
C |
CGTG |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Gpx1 |
A |
G |
9: 108,217,295 (GRCm39) |
D133G |
probably damaging |
Het |
| Hoxd1 |
T |
A |
2: 74,593,606 (GRCm39) |
V54E |
probably damaging |
Het |
| Kcnh3 |
T |
C |
15: 99,139,649 (GRCm39) |
V876A |
probably benign |
Het |
| Klri2 |
G |
C |
6: 129,709,158 (GRCm39) |
F231L |
probably benign |
Het |
| Mogat1 |
T |
G |
1: 78,500,411 (GRCm39) |
S158R |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Or2ag13 |
T |
A |
7: 106,313,247 (GRCm39) |
I214F |
probably damaging |
Het |
| Or8k16 |
T |
A |
2: 85,520,279 (GRCm39) |
C169S |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,911,167 (GRCm39) |
A673T |
possibly damaging |
Het |
| Rab33b |
A |
G |
3: 51,391,900 (GRCm39) |
T50A |
possibly damaging |
Het |
| Raver2 |
C |
T |
4: 100,988,500 (GRCm39) |
P371L |
probably damaging |
Het |
| Rpl15-ps6 |
G |
T |
15: 52,341,016 (GRCm39) |
|
noncoding transcript |
Het |
| Sh3rf2 |
T |
A |
18: 42,234,705 (GRCm39) |
Y163N |
probably damaging |
Het |
| Slc1a1 |
T |
C |
19: 28,871,970 (GRCm39) |
|
probably null |
Het |
| Slc6a18 |
T |
A |
13: 73,812,401 (GRCm39) |
Y563F |
possibly damaging |
Het |
| Sp3 |
A |
G |
2: 72,801,458 (GRCm39) |
L185P |
possibly damaging |
Het |
| Thbs2 |
T |
C |
17: 14,893,630 (GRCm39) |
D850G |
possibly damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tmtc2 |
T |
A |
10: 105,409,610 (GRCm39) |
M1L |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
| Trpm3 |
T |
A |
19: 22,955,946 (GRCm39) |
I1126K |
probably damaging |
Het |
| Ugt1a6b |
A |
C |
1: 88,035,516 (GRCm39) |
T285P |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,617,842 (GRCm39) |
T1181A |
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 |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTAACTAGGAGGGATATCCGC -3'
(R):5'- AGGCGGTCCTCCTTGTAATG -3'
Sequencing Primer
(F):5'- GAGGGATATCCGCCATAATTTCTC -3'
(R):5'- GGTCCTCCTTGTAATGGGAAATAATC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation