Incidental Mutation 'IGL00970:Man2b2'
ID |
27518 |
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 # |
IGL00970
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
36964265-36987997 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 36973487 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Stop codon
at position 76
(W76*)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031002]
|
AlphaFold |
O54782 |
Predicted Effect |
probably null
Transcript: ENSMUST00000031002
AA Change: W497*
|
SMART Domains |
Protein: ENSMUSP00000031002 Gene: ENSMUSG00000029119 AA Change: W497*
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 null
Transcript: ENSMUST00000124711
AA Change: W76*
|
SMART Domains |
Protein: ENSMUSP00000115495 Gene: ENSMUSG00000029119 AA Change: W76*
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
T |
A |
18: 59,144,149 (GRCm39) |
N910K |
possibly damaging |
Het |
Atp8b5 |
A |
G |
4: 43,311,938 (GRCm39) |
T184A |
probably benign |
Het |
Cabp7 |
T |
C |
11: 4,688,931 (GRCm39) |
I180V |
probably benign |
Het |
Casp8ap2 |
A |
G |
4: 32,646,182 (GRCm39) |
T1752A |
probably benign |
Het |
Dgkb |
T |
C |
12: 38,240,082 (GRCm39) |
L453P |
probably damaging |
Het |
Disp2 |
A |
C |
2: 118,622,274 (GRCm39) |
D1002A |
probably damaging |
Het |
Eif3c |
G |
A |
7: 126,158,180 (GRCm39) |
P259S |
probably benign |
Het |
Eif4a3l1 |
A |
G |
6: 136,306,109 (GRCm39) |
D169G |
probably damaging |
Het |
Fam227b |
A |
T |
2: 125,968,980 (GRCm39) |
D31E |
probably benign |
Het |
Farp2 |
T |
C |
1: 93,488,049 (GRCm39) |
V92A |
probably benign |
Het |
Fhod1 |
C |
A |
8: 106,058,734 (GRCm39) |
V745L |
possibly damaging |
Het |
Gprin3 |
T |
C |
6: 59,330,822 (GRCm39) |
E495G |
possibly damaging |
Het |
Grm5 |
T |
C |
7: 87,453,104 (GRCm39) |
I247T |
probably damaging |
Het |
Herc2 |
T |
C |
7: 55,830,812 (GRCm39) |
|
probably benign |
Het |
Hoatz |
T |
A |
9: 50,994,886 (GRCm39) |
K148* |
probably null |
Het |
Hspg2 |
C |
A |
4: 137,269,901 (GRCm39) |
Q2311K |
probably benign |
Het |
Krt26 |
T |
C |
11: 99,222,107 (GRCm39) |
Y400C |
probably benign |
Het |
Lct |
A |
T |
1: 128,231,805 (GRCm39) |
D681E |
probably damaging |
Het |
Lgalsl |
G |
T |
11: 20,776,493 (GRCm39) |
P133Q |
probably benign |
Het |
Mylk4 |
T |
C |
13: 32,899,905 (GRCm39) |
E326G |
probably damaging |
Het |
Odam |
T |
G |
5: 88,034,467 (GRCm39) |
|
probably benign |
Het |
Pabpc4 |
T |
C |
4: 123,180,608 (GRCm39) |
I110T |
probably damaging |
Het |
Pcdh15 |
A |
T |
10: 74,215,172 (GRCm39) |
D47V |
probably damaging |
Het |
Plekhg4 |
C |
T |
8: 106,105,067 (GRCm39) |
R577C |
probably benign |
Het |
Pnpo |
C |
A |
11: 96,834,618 (GRCm39) |
C26F |
possibly damaging |
Het |
Polg |
T |
C |
7: 79,101,493 (GRCm39) |
I1071M |
probably benign |
Het |
Prr23a2 |
A |
G |
9: 98,739,014 (GRCm39) |
D124G |
probably benign |
Het |
Rexo1 |
C |
T |
10: 80,386,798 (GRCm39) |
V87I |
probably damaging |
Het |
Robo2 |
C |
A |
16: 73,693,934 (GRCm39) |
V1502L |
probably benign |
Het |
Ruvbl2 |
A |
G |
7: 45,078,994 (GRCm39) |
L50P |
possibly damaging |
Het |
Ryr3 |
T |
C |
2: 112,595,021 (GRCm39) |
K2534E |
probably damaging |
Het |
Scfd2 |
T |
C |
5: 74,691,595 (GRCm39) |
H229R |
possibly damaging |
Het |
Sesn3 |
A |
G |
9: 14,232,438 (GRCm39) |
D237G |
probably damaging |
Het |
Shank1 |
T |
C |
7: 44,003,662 (GRCm39) |
S1785P |
possibly damaging |
Het |
Slc11a1 |
A |
G |
1: 74,419,821 (GRCm39) |
T165A |
probably damaging |
Het |
Star |
G |
A |
8: 26,302,894 (GRCm39) |
|
probably null |
Het |
Trpc6 |
A |
T |
9: 8,653,152 (GRCm39) |
N575Y |
probably damaging |
Het |
Unc5d |
T |
C |
8: 29,186,456 (GRCm39) |
T598A |
probably benign |
Het |
Vmn1r200 |
A |
T |
13: 22,579,893 (GRCm39) |
Q232L |
probably damaging |
Het |
Wdr31 |
T |
C |
4: 62,375,757 (GRCm39) |
T233A |
probably damaging |
Het |
Zzef1 |
G |
A |
11: 72,806,071 (GRCm39) |
R2669Q |
probably benign |
Het |
|
Other mutations in Man2b2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-04-17 |