Incidental Mutation 'IGL01367:Man2b2'
ID |
75976 |
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 # |
IGL01367
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
36964265-36987997 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 36971681 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 257
(Y257*)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031002]
|
AlphaFold |
O54782 |
Predicted Effect |
probably null
Transcript: ENSMUST00000031002
AA Change: Y678*
|
SMART Domains |
Protein: ENSMUSP00000031002 Gene: ENSMUSG00000029119 AA Change: Y678*
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: Y257*
|
SMART Domains |
Protein: ENSMUSP00000115495 Gene: ENSMUSG00000029119 AA Change: Y257*
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
A |
G |
11: 30,404,843 (GRCm39) |
V20A |
possibly damaging |
Het |
Alk |
T |
C |
17: 72,207,781 (GRCm39) |
I985V |
probably damaging |
Het |
Anapc2 |
A |
C |
2: 25,164,794 (GRCm39) |
R59S |
possibly damaging |
Het |
Ankhd1 |
T |
A |
18: 36,711,696 (GRCm39) |
D165E |
probably benign |
Het |
Asb8 |
A |
T |
15: 98,034,054 (GRCm39) |
V167D |
probably damaging |
Het |
Atp5pf |
A |
G |
16: 84,625,360 (GRCm39) |
M81T |
probably benign |
Het |
Bcl7b |
A |
G |
5: 135,208,950 (GRCm39) |
T138A |
probably damaging |
Het |
Cdh23 |
A |
G |
10: 60,146,566 (GRCm39) |
L2869P |
probably damaging |
Het |
Chl1 |
T |
C |
6: 103,706,186 (GRCm39) |
S1174P |
probably benign |
Het |
Clec2g |
T |
C |
6: 128,925,699 (GRCm39) |
I36T |
unknown |
Het |
Denr |
A |
G |
5: 124,046,182 (GRCm39) |
D4G |
probably benign |
Het |
Dnajc10 |
T |
C |
2: 80,155,096 (GRCm39) |
|
probably benign |
Het |
Egf |
C |
T |
3: 129,496,104 (GRCm39) |
|
probably null |
Het |
Galnt10 |
A |
C |
11: 57,616,409 (GRCm39) |
Y108S |
probably damaging |
Het |
Gls |
C |
T |
1: 52,207,558 (GRCm39) |
G602D |
probably damaging |
Het |
Grb10 |
G |
T |
11: 11,895,599 (GRCm39) |
Q242K |
probably damaging |
Het |
Hspg2 |
A |
T |
4: 137,265,800 (GRCm39) |
Y1837F |
probably damaging |
Het |
Ikzf1 |
G |
T |
11: 11,698,358 (GRCm39) |
A70S |
probably benign |
Het |
Il17ra |
T |
C |
6: 120,458,426 (GRCm39) |
Y526H |
probably damaging |
Het |
Il34 |
A |
T |
8: 111,469,375 (GRCm39) |
I186N |
possibly damaging |
Het |
Iqca1 |
G |
A |
1: 89,998,350 (GRCm39) |
|
probably benign |
Het |
Kntc1 |
A |
G |
5: 123,896,546 (GRCm39) |
Y136C |
probably damaging |
Het |
Map3k19 |
A |
G |
1: 127,752,088 (GRCm39) |
F421S |
possibly damaging |
Het |
Melk |
A |
G |
4: 44,332,907 (GRCm39) |
T288A |
possibly damaging |
Het |
Mpp2 |
T |
C |
11: 101,954,135 (GRCm39) |
E187G |
probably damaging |
Het |
Mtf2 |
A |
G |
5: 108,252,323 (GRCm39) |
T394A |
probably benign |
Het |
Neil2 |
A |
G |
14: 63,429,177 (GRCm39) |
S39P |
probably damaging |
Het |
Or4e5 |
T |
A |
14: 52,727,624 (GRCm39) |
I266F |
probably benign |
Het |
Pcdh7 |
A |
G |
5: 58,286,566 (GRCm39) |
E1214G |
possibly damaging |
Het |
Pcdhb17 |
G |
T |
18: 37,620,548 (GRCm39) |
Q779H |
probably benign |
Het |
Pik3c2b |
A |
G |
1: 133,033,726 (GRCm39) |
I1577V |
probably benign |
Het |
Pkp3 |
C |
T |
7: 140,663,989 (GRCm39) |
P389S |
probably damaging |
Het |
Ppp4r2 |
T |
A |
6: 100,841,706 (GRCm39) |
Y92* |
probably null |
Het |
Rnf13 |
T |
C |
3: 57,714,508 (GRCm39) |
I189T |
probably benign |
Het |
Serpinf2 |
T |
C |
11: 75,328,871 (GRCm39) |
D53G |
probably benign |
Het |
Slc47a2 |
T |
A |
11: 61,220,607 (GRCm39) |
T184S |
probably benign |
Het |
Sned1 |
T |
C |
1: 93,210,936 (GRCm39) |
I1008T |
probably benign |
Het |
Sorcs3 |
A |
T |
19: 48,784,814 (GRCm39) |
E1079V |
probably damaging |
Het |
Trappc8 |
G |
A |
18: 20,999,176 (GRCm39) |
S318L |
probably benign |
Het |
Trappc9 |
A |
G |
15: 72,462,002 (GRCm39) |
S909P |
probably benign |
Het |
Ttn |
G |
A |
2: 76,560,483 (GRCm39) |
T29306I |
probably damaging |
Het |
Twnk |
G |
A |
19: 45,000,090 (GRCm39) |
R602Q |
possibly damaging |
Het |
Vmn2r15 |
A |
T |
5: 109,441,075 (GRCm39) |
I261K |
probably damaging |
Het |
Vmn2r77 |
G |
A |
7: 86,461,124 (GRCm39) |
A817T |
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 |
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 |
2013-10-07 |