Incidental Mutation 'IGL01443:Manba'
| ID |
84307 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Manba
|
| Ensembl Gene |
ENSMUSG00000028164 |
| Gene Name |
mannosidase, beta A, lysosomal |
| Synonyms |
B930014J03Rik, Bmn, 2410030O07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL01443
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
135191372-135277165 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 135250589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 405
(D405E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029814
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029814]
[ENSMUST00000131610]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029814
AA Change: D405E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029814
Gene: ENSMUSG00000028164
AA Change: D405E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_2_N
|
42 |
211 |
6.5e-11 |
PFAM |
|
Pfam:Glyco_hydro_2_C
|
340 |
595 |
3.8e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123061
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131610
|
| SMART Domains |
Protein: ENSMUSP00000122148
Gene: ENSMUSG00000028164
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_2_N
|
22 |
163 |
1.8e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140893
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147872
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation results in no dysmorphology or overt neurological problems. Homozygotes show no beta-mannosidase activity and display consistent cytoplasmic vacuolation in the central nervous system and minimal vacuolation in most visceral organs. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
A |
G |
11: 50,694,690 (GRCm39) |
E1159G |
possibly damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,613,134 (GRCm39) |
Y189C |
probably damaging |
Het |
| AW554918 |
G |
A |
18: 25,478,012 (GRCm39) |
G446R |
probably damaging |
Het |
| Baiap3 |
A |
G |
17: 25,464,121 (GRCm39) |
F884S |
possibly damaging |
Het |
| Cd101 |
T |
C |
3: 100,910,887 (GRCm39) |
T924A |
probably benign |
Het |
| Cdk12 |
T |
A |
11: 98,136,295 (GRCm39) |
V1183E |
unknown |
Het |
| Clcc1 |
T |
C |
3: 108,578,219 (GRCm39) |
M240T |
probably benign |
Het |
| Dnmbp |
C |
A |
19: 43,891,309 (GRCm39) |
A153S |
probably damaging |
Het |
| Dus4l |
T |
C |
12: 31,702,409 (GRCm39) |
|
probably benign |
Het |
| Dyrk1a |
A |
G |
16: 94,485,943 (GRCm39) |
E430G |
probably benign |
Het |
| Erc1 |
T |
C |
6: 119,801,432 (GRCm39) |
K195R |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,113,280 (GRCm39) |
E1470G |
probably damaging |
Het |
| Extl3 |
A |
T |
14: 65,314,919 (GRCm39) |
S88T |
probably damaging |
Het |
| Fam135b |
A |
T |
15: 71,335,213 (GRCm39) |
H660Q |
probably benign |
Het |
| Fat1 |
G |
A |
8: 45,493,613 (GRCm39) |
G3920S |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,666,741 (GRCm39) |
V144A |
probably damaging |
Het |
| Grwd1 |
C |
T |
7: 45,479,834 (GRCm39) |
|
probably null |
Het |
| Hdlbp |
T |
C |
1: 93,358,796 (GRCm39) |
T252A |
probably damaging |
Het |
| Igkv3-1 |
A |
G |
6: 70,681,088 (GRCm39) |
S96G |
possibly damaging |
Het |
| Igkv4-68 |
G |
T |
6: 69,281,921 (GRCm39) |
F83L |
probably damaging |
Het |
| Klhl31 |
T |
C |
9: 77,557,542 (GRCm39) |
V86A |
possibly damaging |
Het |
| Lypd3 |
G |
A |
7: 24,336,063 (GRCm39) |
G17R |
probably benign |
Het |
| Map3k19 |
A |
G |
1: 127,766,244 (GRCm39) |
S227P |
probably benign |
Het |
| Nras |
T |
A |
3: 102,969,751 (GRCm39) |
C118S |
probably benign |
Het |
| Or52n20 |
A |
G |
7: 104,320,278 (GRCm39) |
D123G |
probably damaging |
Het |
| Pde8a |
T |
C |
7: 80,973,929 (GRCm39) |
F629L |
probably damaging |
Het |
| Phtf2 |
A |
G |
5: 20,987,265 (GRCm39) |
|
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 116,017,429 (GRCm39) |
F109L |
probably benign |
Het |
| Plod3 |
G |
A |
5: 137,019,075 (GRCm39) |
R320H |
probably benign |
Het |
| Ppib |
T |
C |
9: 65,972,879 (GRCm39) |
F152L |
probably damaging |
Het |
| Rbm19 |
T |
C |
5: 120,281,503 (GRCm39) |
|
probably benign |
Het |
| Rgs12 |
T |
A |
5: 35,132,563 (GRCm39) |
S628R |
probably benign |
Het |
| Ripk1 |
A |
G |
13: 34,199,251 (GRCm39) |
D201G |
probably damaging |
Het |
| Speer4c2 |
A |
G |
5: 15,857,642 (GRCm39) |
*212Q |
probably null |
Het |
| St14 |
G |
T |
9: 31,011,489 (GRCm39) |
S434* |
probably null |
Het |
| Tbc1d9 |
A |
G |
8: 83,966,560 (GRCm39) |
D387G |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,838,861 (GRCm39) |
|
probably benign |
Het |
| Ttn |
G |
A |
2: 76,544,215 (GRCm39) |
R32924C |
probably damaging |
Het |
| Vmn1r181 |
T |
C |
7: 23,684,006 (GRCm39) |
V157A |
possibly damaging |
Het |
| Zfp473 |
C |
T |
7: 44,388,987 (GRCm39) |
D45N |
probably damaging |
Het |
|
| Other mutations in Manba |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01374:Manba
|
APN |
3 |
135,260,541 (GRCm39) |
nonsense |
probably null |
|
|
IGL01796:Manba
|
APN |
3 |
135,248,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02396:Manba
|
APN |
3 |
135,250,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02471:Manba
|
APN |
3 |
135,212,769 (GRCm39) |
splice site |
probably benign |
|
|
IGL02809:Manba
|
APN |
3 |
135,253,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02861:Manba
|
APN |
3 |
135,276,024 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02934:Manba
|
APN |
3 |
135,250,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03130:Manba
|
APN |
3 |
135,256,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03237:Manba
|
APN |
3 |
135,250,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03342:Manba
|
APN |
3 |
135,223,748 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0551:Manba
|
UTSW |
3 |
135,223,734 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1549:Manba
|
UTSW |
3 |
135,250,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1752:Manba
|
UTSW |
3 |
135,212,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1932:Manba
|
UTSW |
3 |
135,250,501 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1991:Manba
|
UTSW |
3 |
135,256,952 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3729:Manba
|
UTSW |
3 |
135,260,611 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3731:Manba
|
UTSW |
3 |
135,260,611 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3813:Manba
|
UTSW |
3 |
135,269,023 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4712:Manba
|
UTSW |
3 |
135,250,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5001:Manba
|
UTSW |
3 |
135,273,391 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5481:Manba
|
UTSW |
3 |
135,230,317 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5889:Manba
|
UTSW |
3 |
135,230,359 (GRCm39) |
nonsense |
probably null |
|
|
R6033:Manba
|
UTSW |
3 |
135,255,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6033:Manba
|
UTSW |
3 |
135,255,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6434:Manba
|
UTSW |
3 |
135,217,734 (GRCm39) |
splice site |
probably null |
|
|
R6760:Manba
|
UTSW |
3 |
135,248,212 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7164:Manba
|
UTSW |
3 |
135,248,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7182:Manba
|
UTSW |
3 |
135,273,274 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7184:Manba
|
UTSW |
3 |
135,228,915 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7212:Manba
|
UTSW |
3 |
135,273,396 (GRCm39) |
missense |
probably benign |
|
|
R7266:Manba
|
UTSW |
3 |
135,223,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7271:Manba
|
UTSW |
3 |
135,248,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7466:Manba
|
UTSW |
3 |
135,248,154 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7467:Manba
|
UTSW |
3 |
135,250,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7542:Manba
|
UTSW |
3 |
135,272,354 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7546:Manba
|
UTSW |
3 |
135,276,007 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7726:Manba
|
UTSW |
3 |
135,223,770 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8475:Manba
|
UTSW |
3 |
135,217,573 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8768:Manba
|
UTSW |
3 |
135,256,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8856:Manba
|
UTSW |
3 |
135,223,764 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9140:Manba
|
UTSW |
3 |
135,191,490 (GRCm39) |
missense |
probably benign |
|
|
R9449:Manba
|
UTSW |
3 |
135,255,079 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Manba
|
UTSW |
3 |
135,269,035 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-11-11 |
Incidental Mutation