Incidental Mutation 'IGL02824:Man2b2'
| ID |
361129 |
| 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 # |
IGL02824
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
36964265-36987997 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 36979195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 282
(V282I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031002]
|
| AlphaFold |
O54782 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031002
AA Change: V282I
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000031002
Gene: ENSMUSG00000029119
AA Change: V282I
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530002B09Rik |
T |
C |
4: 122,596,112 (GRCm39) |
|
probably benign |
Het |
| Aadat |
A |
T |
8: 60,969,056 (GRCm39) |
K93N |
probably benign |
Het |
| Abcb5 |
A |
G |
12: 118,854,420 (GRCm39) |
F832L |
probably benign |
Het |
| Abl1 |
A |
T |
2: 31,690,831 (GRCm39) |
K783N |
probably damaging |
Het |
| Agxt2 |
A |
G |
15: 10,393,891 (GRCm39) |
E423G |
probably null |
Het |
| Alkbh8 |
T |
C |
9: 3,368,021 (GRCm39) |
|
probably null |
Het |
| Ankrd36 |
T |
C |
11: 5,524,246 (GRCm39) |
I171T |
possibly damaging |
Het |
| Ap1b1 |
G |
T |
11: 4,983,738 (GRCm39) |
A664S |
possibly damaging |
Het |
| Cd19 |
T |
C |
7: 126,009,826 (GRCm39) |
D446G |
probably damaging |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Cyp4f39 |
T |
C |
17: 32,687,659 (GRCm39) |
|
probably null |
Het |
| Ehbp1l1 |
T |
C |
19: 5,769,326 (GRCm39) |
D659G |
probably benign |
Het |
| Eif3l |
A |
G |
15: 78,960,023 (GRCm39) |
|
probably null |
Het |
| F5 |
T |
C |
1: 164,021,916 (GRCm39) |
S1464P |
probably benign |
Het |
| Fut9 |
T |
C |
4: 25,620,037 (GRCm39) |
N259S |
probably damaging |
Het |
| Glb1l3 |
A |
T |
9: 26,761,405 (GRCm39) |
I209N |
probably damaging |
Het |
| Gpd2 |
A |
G |
2: 57,254,339 (GRCm39) |
E671G |
probably null |
Het |
| Heatr5b |
T |
C |
17: 79,081,109 (GRCm39) |
D1381G |
probably damaging |
Het |
| Ifi206 |
A |
T |
1: 173,309,438 (GRCm39) |
I186K |
possibly damaging |
Het |
| Izumo1 |
A |
G |
7: 45,275,072 (GRCm39) |
D236G |
probably benign |
Het |
| Klhl32 |
T |
A |
4: 24,682,237 (GRCm39) |
R149* |
probably null |
Het |
| Lrrn1 |
T |
C |
6: 107,545,495 (GRCm39) |
F431S |
possibly damaging |
Het |
| Mboat2 |
A |
G |
12: 24,996,585 (GRCm39) |
K164R |
probably benign |
Het |
| Mgarp |
T |
C |
3: 51,296,508 (GRCm39) |
T165A |
probably damaging |
Het |
| Midn |
T |
G |
10: 79,989,486 (GRCm39) |
I43S |
possibly damaging |
Het |
| Ndn |
A |
G |
7: 61,998,582 (GRCm39) |
I143V |
possibly damaging |
Het |
| Or6c69 |
T |
C |
10: 129,747,565 (GRCm39) |
E194G |
probably damaging |
Het |
| Or8h9 |
T |
C |
2: 86,789,337 (GRCm39) |
D155G |
probably benign |
Het |
| Pcnx4 |
T |
C |
12: 72,602,345 (GRCm39) |
V278A |
probably benign |
Het |
| Prr30 |
A |
G |
14: 101,435,954 (GRCm39) |
F203L |
probably benign |
Het |
| Scd4 |
T |
C |
19: 44,329,698 (GRCm39) |
L223P |
probably damaging |
Het |
| Setdb1 |
T |
C |
3: 95,247,215 (GRCm39) |
|
probably benign |
Het |
| Smtn |
A |
G |
11: 3,482,658 (GRCm39) |
Y105H |
probably damaging |
Het |
| Spata19 |
A |
G |
9: 27,309,025 (GRCm39) |
I54M |
possibly damaging |
Het |
| Syk |
A |
T |
13: 52,777,319 (GRCm39) |
|
probably benign |
Het |
| Trim44 |
A |
G |
2: 102,230,540 (GRCm39) |
F164L |
possibly damaging |
Het |
| Zfp503 |
C |
T |
14: 22,035,162 (GRCm39) |
G585S |
possibly damaging |
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 |
|
IGL03323:Man2b2
|
APN |
5 |
36,975,858 (GRCm39) |
missense |
probably benign |
0.07 |
|
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 |
2015-12-18 |
Incidental Mutation