Incidental Mutation 'IGL00838:Mgl2'
| ID |
11994 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mgl2
|
| Ensembl Gene |
ENSMUSG00000040950 |
| Gene Name |
macrophage galactose N-acetyl-galactosamine specific lectin 2 |
| Synonyms |
CD301b |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00838
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
70130329-70137550 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 70134212 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 14
(M14L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041550]
[ENSMUST00000108584]
[ENSMUST00000165951]
|
| AlphaFold |
A9XX86 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041550
AA Change: M20L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000048568
Gene: ENSMUSG00000040950
AA Change: M20L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lectin_N
|
6 |
179 |
4.6e-56 |
PFAM |
|
CLECT
|
189 |
313 |
2.37e-35 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108584
AA Change: M14L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000104225
Gene: ENSMUSG00000040950
AA Change: M14L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lectin_N
|
8 |
173 |
8.6e-56 |
PFAM |
|
CLECT
|
183 |
355 |
5.76e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118803
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132645
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147502
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165951
AA Change: M20L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000131344
Gene: ENSMUSG00000040950
AA Change: M20L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lectin_N
|
21 |
133 |
2.1e-35 |
PFAM |
|
Pfam:Lectin_N
|
129 |
180 |
5.4e-19 |
PFAM |
|
CLECT
|
190 |
362 |
5.76e-25 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice that are either homozygous or heterozygous for a reporter allele are viable and fertile. In heterozygotes, transient depletion of CD301b+ dermal dendritic cells by injection of diptheria toxin results in impaired T helper 2 (Th2) cell mediated immunity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano7 |
C |
A |
1: 93,402,757 |
N834K |
possibly damaging |
Het |
| Armc10 |
T |
A |
5: 21,661,581 |
V281E |
probably damaging |
Het |
| Baat |
A |
T |
4: 49,490,352 |
M244K |
probably damaging |
Het |
| Cryz |
T |
A |
3: 154,618,475 |
C166S |
probably damaging |
Het |
| D430041D05Rik |
T |
A |
2: 104,201,303 |
K1649N |
probably damaging |
Het |
| Dennd5b |
T |
C |
6: 149,005,363 |
|
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,175,459 |
R1630* |
probably null |
Het |
| Gstm5 |
A |
G |
3: 107,897,558 |
N122S |
probably benign |
Het |
| Klra5 |
C |
A |
6: 129,911,359 |
G35C |
possibly damaging |
Het |
| Klrb1f |
G |
A |
6: 129,054,316 |
V159I |
possibly damaging |
Het |
| Mob1a |
C |
T |
6: 83,338,331 |
R78C |
possibly damaging |
Het |
| Pigo |
C |
T |
4: 43,021,767 |
A392T |
possibly damaging |
Het |
| Polr3a |
A |
T |
14: 24,475,863 |
N436K |
probably benign |
Het |
| Prokr1 |
T |
C |
6: 87,588,693 |
T57A |
possibly damaging |
Het |
| Ror1 |
T |
G |
4: 100,333,743 |
V99G |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,568,503 |
I4755N |
probably damaging |
Het |
| Senp5 |
T |
C |
16: 31,989,173 |
D394G |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,410,390 |
I1318V |
possibly damaging |
Het |
| Syt6 |
T |
A |
3: 103,625,626 |
M357K |
probably damaging |
Het |
| Tex11 |
A |
T |
X: 100,972,118 |
I328N |
possibly damaging |
Het |
| Ttc37 |
T |
C |
13: 76,134,791 |
L744P |
probably damaging |
Het |
| Vnn1 |
T |
C |
10: 23,900,779 |
F343L |
possibly damaging |
Het |
| Wdr72 |
A |
T |
9: 74,155,129 |
E519V |
probably damaging |
Het |
|
| Other mutations in Mgl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00677:Mgl2
|
APN |
11 |
70137106 |
missense |
probably benign |
0.33 |
|
IGL00757:Mgl2
|
APN |
11 |
70135150 |
missense |
probably damaging |
1.00 |
|
IGL01118:Mgl2
|
APN |
11 |
70134189 |
missense |
probably benign |
0.00 |
|
IGL01613:Mgl2
|
APN |
11 |
70134158 |
missense |
probably benign |
0.08 |
|
IGL02094:Mgl2
|
APN |
11 |
70137097 |
missense |
possibly damaging |
0.73 |
|
IGL03000:Mgl2
|
APN |
11 |
70134200 |
nonsense |
probably null |
|
|
R1893:Mgl2
|
UTSW |
11 |
70134167 |
splice site |
probably null |
|
|
R3767:Mgl2
|
UTSW |
11 |
70135833 |
missense |
probably damaging |
1.00 |
|
R3768:Mgl2
|
UTSW |
11 |
70135833 |
missense |
probably damaging |
1.00 |
|
R3769:Mgl2
|
UTSW |
11 |
70135833 |
missense |
probably damaging |
1.00 |
|
R5467:Mgl2
|
UTSW |
11 |
70135052 |
missense |
possibly damaging |
0.46 |
|
R5742:Mgl2
|
UTSW |
11 |
70136684 |
missense |
probably benign |
0.00 |
|
R6018:Mgl2
|
UTSW |
11 |
70137111 |
makesense |
probably null |
|
|
R7189:Mgl2
|
UTSW |
11 |
70137043 |
missense |
probably damaging |
1.00 |
|
R7270:Mgl2
|
UTSW |
11 |
70135680 |
missense |
probably damaging |
1.00 |
|
R7536:Mgl2
|
UTSW |
11 |
70137007 |
missense |
probably benign |
0.02 |
|
R8330:Mgl2
|
UTSW |
11 |
70135959 |
missense |
probably benign |
0.03 |
|
R9174:Mgl2
|
UTSW |
11 |
70135780 |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation