Incidental Mutation 'IGL01118:Mgl2'
| ID |
52330 |
| 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 # |
IGL01118
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
70021155-70028376 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70025015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 12
(E12G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041550]
[ENSMUST00000108584]
[ENSMUST00000165951]
|
| AlphaFold |
A9XX86 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041550
AA Change: E12G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000048568
Gene: ENSMUSG00000040950
AA Change: E12G
| 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: E6G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000104225
Gene: ENSMUSG00000040950
AA Change: E6G
| 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: E12G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000131344
Gene: ENSMUSG00000040950
AA Change: E12G
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
C |
T |
3: 124,195,058 (GRCm39) |
R539Q |
probably benign |
Het |
| Abcb1a |
G |
A |
5: 8,724,687 (GRCm39) |
R40H |
probably damaging |
Het |
| Acan |
T |
A |
7: 78,748,401 (GRCm39) |
S1057R |
possibly damaging |
Het |
| Ahnak |
A |
T |
19: 8,989,942 (GRCm39) |
D3742V |
probably damaging |
Het |
| Amdhd1 |
A |
T |
10: 93,367,430 (GRCm39) |
D241E |
probably benign |
Het |
| Cntn5 |
T |
C |
9: 9,831,565 (GRCm39) |
Y605C |
possibly damaging |
Het |
| Dnmt3l |
T |
C |
10: 77,893,120 (GRCm39) |
F299S |
probably damaging |
Het |
| Eif1ad19 |
T |
A |
12: 87,740,212 (GRCm39) |
N116Y |
probably damaging |
Het |
| Ess2 |
A |
T |
16: 17,720,796 (GRCm39) |
I350N |
probably damaging |
Het |
| G6pd2 |
A |
T |
5: 61,967,406 (GRCm39) |
M394L |
probably benign |
Het |
| Gm9839 |
A |
T |
1: 32,558,924 (GRCm39) |
M386K |
probably benign |
Het |
| Gtf2h3 |
T |
C |
5: 124,733,731 (GRCm39) |
V268A |
probably damaging |
Het |
| Hgs |
T |
C |
11: 120,366,040 (GRCm39) |
V195A |
probably damaging |
Het |
| Igkv3-2 |
A |
T |
6: 70,675,978 (GRCm39) |
S96C |
probably damaging |
Het |
| Mup11 |
A |
T |
4: 60,615,779 (GRCm39) |
F153I |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,437,812 (GRCm39) |
C2057S |
probably damaging |
Het |
| Nkrf |
A |
G |
X: 36,152,410 (GRCm39) |
F624S |
probably damaging |
Het |
| Noto |
T |
C |
6: 85,401,192 (GRCm39) |
S74P |
probably benign |
Het |
| Or8k40 |
A |
G |
2: 86,584,314 (GRCm39) |
I256T |
probably benign |
Het |
| Pax8 |
T |
C |
2: 24,332,944 (GRCm39) |
|
probably benign |
Het |
| Psg28 |
A |
T |
7: 18,162,017 (GRCm39) |
V162D |
probably damaging |
Het |
| Rai1 |
T |
C |
11: 60,078,264 (GRCm39) |
F776S |
probably damaging |
Het |
| Taar8a |
A |
T |
10: 23,952,759 (GRCm39) |
H121L |
probably damaging |
Het |
| Tas2r113 |
A |
G |
6: 132,870,278 (GRCm39) |
N102S |
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,885,572 (GRCm39) |
T863A |
probably benign |
Het |
| Ttf2 |
A |
G |
3: 100,874,413 (GRCm39) |
|
probably benign |
Het |
| Wdr62 |
T |
C |
7: 29,942,206 (GRCm39) |
H611R |
probably damaging |
Het |
| Wdr90 |
A |
T |
17: 26,073,661 (GRCm39) |
L762Q |
probably damaging |
Het |
| Yeats2 |
T |
G |
16: 20,005,054 (GRCm39) |
S364A |
probably damaging |
Het |
| Zdhhc15 |
G |
T |
X: 103,641,712 (GRCm39) |
Q82K |
probably benign |
Het |
|
| Other mutations in Mgl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00677:Mgl2
|
APN |
11 |
70,027,932 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL00757:Mgl2
|
APN |
11 |
70,025,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00838:Mgl2
|
APN |
11 |
70,025,038 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01613:Mgl2
|
APN |
11 |
70,024,984 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02094:Mgl2
|
APN |
11 |
70,027,923 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL03000:Mgl2
|
APN |
11 |
70,025,026 (GRCm39) |
nonsense |
probably null |
|
|
R1893:Mgl2
|
UTSW |
11 |
70,024,993 (GRCm39) |
splice site |
probably null |
|
|
R3767:Mgl2
|
UTSW |
11 |
70,026,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3768:Mgl2
|
UTSW |
11 |
70,026,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3769:Mgl2
|
UTSW |
11 |
70,026,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5467:Mgl2
|
UTSW |
11 |
70,025,878 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5742:Mgl2
|
UTSW |
11 |
70,027,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6018:Mgl2
|
UTSW |
11 |
70,027,937 (GRCm39) |
makesense |
probably null |
|
|
R7189:Mgl2
|
UTSW |
11 |
70,027,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7270:Mgl2
|
UTSW |
11 |
70,026,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7536:Mgl2
|
UTSW |
11 |
70,027,833 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8330:Mgl2
|
UTSW |
11 |
70,026,785 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9174:Mgl2
|
UTSW |
11 |
70,026,606 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation