Incidental Mutation 'IGL03323:Man2b2'
ID |
416557 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Man2b2
|
Ensembl Gene |
ENSMUSG00000029119 |
Gene Name |
mannosidase 2, alpha B2 |
Synonyms |
135 kDa alpha-D-mannosidase |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03323
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
36964265-36987997 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36975858 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 399
(D399G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031002
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031002]
|
AlphaFold |
O54782 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031002
AA Change: D399G
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000031002 Gene: ENSMUSG00000029119 AA Change: D399G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:Glyco_hydro_38
|
28 |
351 |
4e-100 |
PFAM |
Alpha-mann_mid
|
356 |
439 |
3.3e-20 |
SMART |
Pfam:Glyco_hydro_38C
|
487 |
1013 |
2e-98 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124711
|
SMART Domains |
Protein: ENSMUSP00000115495 Gene: ENSMUSG00000029119
Domain | Start | End | E-Value | Type |
Pfam:Glyco_hydro_38C
|
67 |
469 |
2.5e-80 |
PFAM |
low complexity region
|
483 |
493 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acod1 |
A |
T |
14: 103,292,730 (GRCm39) |
D418V |
probably damaging |
Het |
Ahdc1 |
G |
A |
4: 132,792,739 (GRCm39) |
G1327S |
probably benign |
Het |
Bcl2l15 |
A |
T |
3: 103,740,719 (GRCm39) |
I62L |
probably benign |
Het |
Ccdc7a |
A |
T |
8: 129,785,244 (GRCm39) |
D105E |
probably benign |
Het |
Cldn12 |
C |
A |
5: 5,558,421 (GRCm39) |
G2V |
probably damaging |
Het |
Eapp |
G |
T |
12: 54,720,400 (GRCm39) |
H272N |
probably damaging |
Het |
Fcrla |
A |
G |
1: 170,755,114 (GRCm39) |
|
probably benign |
Het |
Fmnl3 |
C |
T |
15: 99,219,162 (GRCm39) |
G787S |
probably damaging |
Het |
Fmo5 |
G |
T |
3: 97,546,323 (GRCm39) |
|
probably null |
Het |
Golgb1 |
G |
T |
16: 36,733,815 (GRCm39) |
E1021* |
probably null |
Het |
Hspa4 |
A |
T |
11: 53,155,960 (GRCm39) |
N648K |
probably benign |
Het |
Iigp1 |
T |
C |
18: 60,522,896 (GRCm39) |
F5L |
probably benign |
Het |
Lad1 |
T |
A |
1: 135,758,712 (GRCm39) |
|
probably null |
Het |
Mc5r |
C |
T |
18: 68,472,286 (GRCm39) |
T215I |
probably benign |
Het |
Mx2 |
A |
G |
16: 97,347,575 (GRCm39) |
S156G |
probably damaging |
Het |
Necap2 |
A |
T |
4: 140,795,533 (GRCm39) |
I242N |
possibly damaging |
Het |
Nme8 |
C |
T |
13: 19,873,120 (GRCm39) |
E175K |
probably benign |
Het |
Notch4 |
T |
A |
17: 34,801,445 (GRCm39) |
C1098S |
probably damaging |
Het |
Or1j16 |
T |
A |
2: 36,530,153 (GRCm39) |
M34K |
possibly damaging |
Het |
Or7a42 |
T |
C |
10: 78,791,434 (GRCm39) |
Y132H |
probably benign |
Het |
Osbpl9 |
A |
G |
4: 108,919,656 (GRCm39) |
|
probably benign |
Het |
Prag1 |
T |
C |
8: 36,607,162 (GRCm39) |
S968P |
probably damaging |
Het |
Qsox2 |
A |
G |
2: 26,110,991 (GRCm39) |
S125P |
probably benign |
Het |
Rptn |
A |
G |
3: 93,304,460 (GRCm39) |
T598A |
probably benign |
Het |
Slc2a2 |
G |
A |
3: 28,780,439 (GRCm39) |
M375I |
probably damaging |
Het |
Tmed9 |
C |
T |
13: 55,744,691 (GRCm39) |
T173I |
probably damaging |
Het |
Trank1 |
A |
G |
9: 111,181,184 (GRCm39) |
D402G |
probably damaging |
Het |
Ttc21a |
G |
T |
9: 119,769,602 (GRCm39) |
|
probably benign |
Het |
Vmn2r58 |
T |
C |
7: 41,511,295 (GRCm39) |
M503V |
probably benign |
Het |
|
Other mutations in Man2b2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00970:Man2b2
|
APN |
5 |
36,973,487 (GRCm39) |
nonsense |
probably null |
|
IGL01098:Man2b2
|
APN |
5 |
36,972,900 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01367:Man2b2
|
APN |
5 |
36,971,681 (GRCm39) |
nonsense |
probably null |
|
IGL01781:Man2b2
|
APN |
5 |
36,971,089 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL01809:Man2b2
|
APN |
5 |
36,971,860 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02824:Man2b2
|
APN |
5 |
36,979,195 (GRCm39) |
missense |
probably benign |
0.09 |
IGL03333:Man2b2
|
APN |
5 |
36,973,483 (GRCm39) |
missense |
probably damaging |
0.96 |
R0505:Man2b2
|
UTSW |
5 |
36,973,542 (GRCm39) |
missense |
probably benign |
0.00 |
R0715:Man2b2
|
UTSW |
5 |
36,983,402 (GRCm39) |
missense |
probably benign |
0.00 |
R1435:Man2b2
|
UTSW |
5 |
36,970,411 (GRCm39) |
missense |
probably damaging |
0.98 |
R1536:Man2b2
|
UTSW |
5 |
36,978,271 (GRCm39) |
missense |
probably benign |
0.10 |
R1944:Man2b2
|
UTSW |
5 |
36,973,524 (GRCm39) |
missense |
probably benign |
|
R2079:Man2b2
|
UTSW |
5 |
36,971,716 (GRCm39) |
missense |
possibly damaging |
0.64 |
R2475:Man2b2
|
UTSW |
5 |
36,965,219 (GRCm39) |
missense |
probably benign |
0.01 |
R2924:Man2b2
|
UTSW |
5 |
36,981,446 (GRCm39) |
missense |
probably benign |
0.01 |
R2925:Man2b2
|
UTSW |
5 |
36,981,446 (GRCm39) |
missense |
probably benign |
0.01 |
R2938:Man2b2
|
UTSW |
5 |
36,978,330 (GRCm39) |
missense |
probably benign |
0.27 |
R3777:Man2b2
|
UTSW |
5 |
36,972,871 (GRCm39) |
missense |
probably benign |
0.00 |
R3778:Man2b2
|
UTSW |
5 |
36,972,871 (GRCm39) |
missense |
probably benign |
0.00 |
R3982:Man2b2
|
UTSW |
5 |
36,971,164 (GRCm39) |
missense |
probably benign |
0.10 |
R4618:Man2b2
|
UTSW |
5 |
36,974,983 (GRCm39) |
missense |
probably benign |
0.06 |
R4822:Man2b2
|
UTSW |
5 |
36,972,865 (GRCm39) |
missense |
probably damaging |
1.00 |
R5320:Man2b2
|
UTSW |
5 |
36,967,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R5394:Man2b2
|
UTSW |
5 |
36,971,862 (GRCm39) |
missense |
probably benign |
0.03 |
R5468:Man2b2
|
UTSW |
5 |
36,964,519 (GRCm39) |
missense |
probably benign |
0.00 |
R5993:Man2b2
|
UTSW |
5 |
36,978,324 (GRCm39) |
missense |
probably benign |
0.12 |
R6053:Man2b2
|
UTSW |
5 |
36,970,382 (GRCm39) |
missense |
probably benign |
0.00 |
R6083:Man2b2
|
UTSW |
5 |
36,966,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R6376:Man2b2
|
UTSW |
5 |
36,978,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R6669:Man2b2
|
UTSW |
5 |
36,967,702 (GRCm39) |
missense |
probably benign |
0.00 |
R7000:Man2b2
|
UTSW |
5 |
36,979,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R7108:Man2b2
|
UTSW |
5 |
36,972,829 (GRCm39) |
missense |
probably benign |
0.04 |
R7376:Man2b2
|
UTSW |
5 |
36,970,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R7478:Man2b2
|
UTSW |
5 |
36,967,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R7712:Man2b2
|
UTSW |
5 |
36,967,658 (GRCm39) |
missense |
probably benign |
0.00 |
R8059:Man2b2
|
UTSW |
5 |
36,973,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R8471:Man2b2
|
UTSW |
5 |
36,979,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R8729:Man2b2
|
UTSW |
5 |
36,973,462 (GRCm39) |
missense |
probably benign |
0.25 |
R9341:Man2b2
|
UTSW |
5 |
36,975,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R9343:Man2b2
|
UTSW |
5 |
36,975,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R9421:Man2b2
|
UTSW |
5 |
36,978,271 (GRCm39) |
missense |
probably benign |
0.10 |
X0022:Man2b2
|
UTSW |
5 |
36,971,236 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1088:Man2b2
|
UTSW |
5 |
36,972,700 (GRCm39) |
missense |
possibly damaging |
0.46 |
Z1177:Man2b2
|
UTSW |
5 |
36,971,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |