Incidental Mutation 'IGL01098:Man2b2'
ID |
51101 |
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 # |
IGL01098
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
36964265-36987997 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 36972900 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 538
(L538Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031002
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031002]
|
AlphaFold |
O54782 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031002
AA Change: L538Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031002 Gene: ENSMUSG00000029119 AA Change: L538Q
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 |
unknown
Transcript: ENSMUST00000124711
AA Change: L117Q
|
SMART Domains |
Protein: ENSMUSP00000115495 Gene: ENSMUSG00000029119 AA Change: L117Q
Domain | Start | End | E-Value | Type |
Pfam:Glyco_hydro_38C
|
67 |
469 |
2.5e-80 |
PFAM |
low complexity region
|
483 |
493 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147893
|
SMART Domains |
Protein: ENSMUSP00000114319 Gene: ENSMUSG00000029119
Domain | Start | End | E-Value | Type |
Pfam:Glyco_hydro_38C
|
2 |
86 |
4.2e-8 |
PFAM |
|
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 |
4921509C19Rik |
T |
C |
2: 151,315,453 (GRCm39) |
D75G |
possibly damaging |
Het |
Brip1 |
G |
T |
11: 85,999,688 (GRCm39) |
R765S |
possibly damaging |
Het |
Btbd16 |
T |
C |
7: 130,424,975 (GRCm39) |
I452T |
probably damaging |
Het |
Cdc42ep4 |
T |
G |
11: 113,620,328 (GRCm39) |
D21A |
probably damaging |
Het |
Cdx2 |
T |
A |
5: 147,243,792 (GRCm39) |
M1L |
possibly damaging |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Csmd2 |
C |
T |
4: 127,952,845 (GRCm39) |
T98M |
probably damaging |
Het |
Cyp26a1 |
A |
T |
19: 37,688,450 (GRCm39) |
Q324L |
probably benign |
Het |
Etaa1 |
A |
G |
11: 17,896,059 (GRCm39) |
V686A |
probably damaging |
Het |
Gpr6 |
G |
A |
10: 40,946,739 (GRCm39) |
T281I |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,369,204 (GRCm39) |
|
probably null |
Het |
Lama2 |
A |
T |
10: 26,907,108 (GRCm39) |
I2351N |
possibly damaging |
Het |
Lman1 |
A |
G |
18: 66,124,711 (GRCm39) |
F343L |
probably damaging |
Het |
Lmo1 |
A |
G |
7: 108,742,657 (GRCm39) |
|
probably benign |
Het |
Lrrc17 |
T |
A |
5: 21,780,269 (GRCm39) |
F414L |
probably benign |
Het |
Map3k9 |
A |
G |
12: 81,770,928 (GRCm39) |
S910P |
probably damaging |
Het |
Mapk1ip1 |
G |
A |
7: 138,438,191 (GRCm39) |
P80S |
probably damaging |
Het |
Mindy4 |
G |
T |
6: 55,261,727 (GRCm39) |
|
probably benign |
Het |
Msh4 |
A |
T |
3: 153,583,619 (GRCm39) |
|
probably benign |
Het |
Mta2 |
A |
G |
19: 8,924,081 (GRCm39) |
D187G |
probably damaging |
Het |
Olfml2a |
A |
G |
2: 38,837,226 (GRCm39) |
|
probably null |
Het |
Pink1 |
A |
T |
4: 138,047,408 (GRCm39) |
|
probably null |
Het |
Plekha6 |
T |
C |
1: 133,209,903 (GRCm39) |
F575L |
possibly damaging |
Het |
Rpe |
C |
A |
1: 66,745,674 (GRCm39) |
D71E |
probably benign |
Het |
Slc5a7 |
C |
T |
17: 54,599,988 (GRCm39) |
A142T |
probably benign |
Het |
Sptbn1 |
C |
T |
11: 30,109,385 (GRCm39) |
R70K |
probably damaging |
Het |
Taf1c |
G |
T |
8: 120,329,580 (GRCm39) |
Q159K |
probably damaging |
Het |
Tgfb1i1 |
T |
C |
7: 127,851,693 (GRCm39) |
F311S |
probably damaging |
Het |
Tmc8 |
T |
C |
11: 117,683,389 (GRCm39) |
V648A |
possibly damaging |
Het |
Tmed8 |
G |
T |
12: 87,223,445 (GRCm39) |
A98E |
probably benign |
Het |
Tmem200a |
A |
G |
10: 25,870,041 (GRCm39) |
I76T |
probably damaging |
Het |
Vmn2r104 |
T |
C |
17: 20,268,358 (GRCm39) |
E37G |
probably benign |
Het |
Vmn2r18 |
A |
T |
5: 151,496,296 (GRCm39) |
V474E |
probably damaging |
Het |
Vps52 |
C |
T |
17: 34,181,704 (GRCm39) |
T510I |
possibly damaging |
Het |
Wwox |
G |
T |
8: 115,172,118 (GRCm39) |
G71* |
probably null |
Het |
Zer1 |
C |
T |
2: 29,998,232 (GRCm39) |
|
probably null |
Het |
Zfp296 |
A |
T |
7: 19,311,845 (GRCm39) |
K117N |
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 |
|
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 |
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 |
2013-06-21 |