Incidental Mutation 'IGL00757:Mgl2'
ID |
11996 |
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 # |
IGL00757
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
70021155-70028376 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 70025976 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 71
(I71F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131344
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041550]
[ENSMUST00000108584]
[ENSMUST00000165951]
|
AlphaFold |
A9XX86 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041550
AA Change: I70F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000048568 Gene: ENSMUSG00000040950 AA Change: I70F
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 damaging
Transcript: ENSMUST00000108584
AA Change: I64F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104225 Gene: ENSMUSG00000040950 AA Change: I64F
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: ENSMUST00000132645
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147502
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165951
AA Change: I71F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000131344 Gene: ENSMUSG00000040950 AA Change: I71F
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg1 |
A |
C |
9: 54,530,003 (GRCm39) |
I231R |
possibly damaging |
Het |
Ahctf1 |
G |
A |
1: 179,596,696 (GRCm39) |
P94S |
probably damaging |
Het |
Cldn34b3 |
T |
C |
X: 75,310,978 (GRCm39) |
I182T |
possibly damaging |
Het |
Cps1 |
T |
A |
1: 67,191,539 (GRCm39) |
|
probably benign |
Het |
Cwf19l2 |
G |
T |
9: 3,460,054 (GRCm39) |
A781S |
probably damaging |
Het |
Cyp4v3 |
T |
C |
8: 45,773,652 (GRCm39) |
I172M |
probably damaging |
Het |
Fcgbpl1 |
T |
G |
7: 27,853,870 (GRCm39) |
C1611W |
probably damaging |
Het |
Gmnc |
T |
G |
16: 26,782,689 (GRCm39) |
D22A |
probably damaging |
Het |
Gpr89 |
T |
A |
3: 96,778,850 (GRCm39) |
T408S |
probably benign |
Het |
Grk2 |
A |
G |
19: 4,339,339 (GRCm39) |
|
probably null |
Het |
Kctd3 |
A |
G |
1: 188,704,393 (GRCm39) |
S793P |
probably damaging |
Het |
Lhx1 |
A |
G |
11: 84,410,478 (GRCm39) |
F373S |
probably damaging |
Het |
Nbeal1 |
T |
A |
1: 60,234,302 (GRCm39) |
I91N |
possibly damaging |
Het |
Otog |
T |
A |
7: 45,939,552 (GRCm39) |
D2110E |
probably damaging |
Het |
Pde9a |
A |
G |
17: 31,662,146 (GRCm39) |
E90G |
probably benign |
Het |
Plaat5 |
G |
T |
19: 7,591,924 (GRCm39) |
E113D |
possibly damaging |
Het |
Prdm10 |
T |
C |
9: 31,229,842 (GRCm39) |
V86A |
possibly damaging |
Het |
R3hdm1 |
T |
G |
1: 128,164,176 (GRCm39) |
I1030R |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,633,490 (GRCm39) |
|
probably null |
Het |
Serpina1f |
A |
G |
12: 103,659,721 (GRCm39) |
I187T |
probably damaging |
Het |
Slc22a16 |
C |
T |
10: 40,457,323 (GRCm39) |
T188M |
probably damaging |
Het |
Spg11 |
T |
C |
2: 121,901,440 (GRCm39) |
H1500R |
probably benign |
Het |
Sptlc2 |
C |
T |
12: 87,415,842 (GRCm39) |
E62K |
probably damaging |
Het |
Tgfbr1 |
T |
A |
4: 47,405,581 (GRCm39) |
S326T |
probably damaging |
Het |
Tgif1 |
A |
G |
17: 71,153,235 (GRCm39) |
Y39H |
probably damaging |
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 |
IGL00838:Mgl2
|
APN |
11 |
70,025,038 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01118:Mgl2
|
APN |
11 |
70,025,015 (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 |
2012-12-06 |