Incidental Mutation 'IGL01809:Man2b2'
ID |
155775 |
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 # |
IGL01809
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
36964265-36987997 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36971860 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 619
(S619G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031002
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031002]
|
AlphaFold |
O54782 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031002
AA Change: S619G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000031002 Gene: ENSMUSG00000029119 AA Change: S619G
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: S198G
|
SMART Domains |
Protein: ENSMUSP00000115495 Gene: ENSMUSG00000029119 AA Change: S198G
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,240,339 (GRCm39) |
N734I |
probably damaging |
Het |
Abi1 |
T |
C |
2: 22,836,729 (GRCm39) |
I371V |
probably benign |
Het |
Atp8b3 |
A |
G |
10: 80,355,845 (GRCm39) |
F1289S |
probably benign |
Het |
Brca2 |
T |
A |
5: 150,454,526 (GRCm39) |
|
probably null |
Het |
C8a |
A |
T |
4: 104,703,139 (GRCm39) |
I306N |
probably benign |
Het |
Crybg3 |
G |
T |
16: 59,345,216 (GRCm39) |
|
probably benign |
Het |
Disp2 |
T |
A |
2: 118,617,745 (GRCm39) |
|
probably benign |
Het |
Dtl |
A |
G |
1: 191,280,415 (GRCm39) |
F373S |
probably damaging |
Het |
Dynlt1a |
G |
A |
17: 6,361,147 (GRCm39) |
|
probably null |
Het |
Dyrk1a |
G |
A |
16: 94,460,476 (GRCm39) |
R44H |
probably benign |
Het |
Fam114a2 |
C |
T |
11: 57,404,461 (GRCm39) |
|
probably null |
Het |
Fsip2 |
A |
G |
2: 82,808,691 (GRCm39) |
E1670G |
possibly damaging |
Het |
Gbp10 |
A |
T |
5: 105,365,225 (GRCm39) |
N594K |
probably benign |
Het |
Gpam |
T |
A |
19: 55,064,057 (GRCm39) |
K679* |
probably null |
Het |
Gtf2i |
A |
T |
5: 134,278,804 (GRCm39) |
V524E |
probably damaging |
Het |
Itpr2 |
T |
A |
6: 146,129,079 (GRCm39) |
E2011D |
probably damaging |
Het |
Jag1 |
C |
A |
2: 136,957,404 (GRCm39) |
G103W |
probably damaging |
Het |
Klkb1 |
A |
T |
8: 45,729,090 (GRCm39) |
V378E |
probably benign |
Het |
Lyst |
T |
A |
13: 13,812,388 (GRCm39) |
S933R |
probably damaging |
Het |
Mex3b |
T |
C |
7: 82,518,920 (GRCm39) |
S412P |
probably benign |
Het |
Mtf2 |
A |
G |
5: 108,235,191 (GRCm39) |
I36V |
probably benign |
Het |
Nckipsd |
T |
C |
9: 108,694,753 (GRCm39) |
Y652H |
probably damaging |
Het |
Or5ak24 |
A |
G |
2: 85,260,498 (GRCm39) |
L225P |
probably damaging |
Het |
Or5w13 |
T |
C |
2: 87,524,089 (GRCm39) |
I46V |
possibly damaging |
Het |
Or8b12i |
A |
G |
9: 20,082,591 (GRCm39) |
I92T |
probably damaging |
Het |
Or8g53 |
A |
T |
9: 39,683,990 (GRCm39) |
Y35* |
probably null |
Het |
Phykpl |
T |
C |
11: 51,490,351 (GRCm39) |
F411L |
probably benign |
Het |
Rbm8a |
T |
A |
3: 96,538,853 (GRCm39) |
F101I |
probably damaging |
Het |
Rbp3 |
G |
T |
14: 33,677,257 (GRCm39) |
G402W |
probably damaging |
Het |
Recql4 |
G |
A |
15: 76,593,070 (GRCm39) |
R254* |
probably null |
Het |
Rsph14 |
G |
A |
10: 74,793,618 (GRCm39) |
|
probably benign |
Het |
Stau2 |
A |
T |
1: 16,510,539 (GRCm39) |
|
probably null |
Het |
Tmprss11c |
G |
A |
5: 86,385,521 (GRCm39) |
S304L |
possibly damaging |
Het |
Vipr1 |
T |
G |
9: 121,490,506 (GRCm39) |
M184R |
possibly damaging |
Het |
Zfp106 |
G |
A |
2: 120,364,152 (GRCm39) |
R752C |
probably 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 |
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 |
2014-02-04 |