Incidental Mutation 'IGL03237:Manba'
| ID |
414087 |
| 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 # |
IGL03237
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
135191372-135277165 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 135250512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 380
(V380M)
|
| 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: V380M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029814
Gene: ENSMUSG00000028164
AA Change: V380M
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot12 |
A |
G |
13: 91,929,388 (GRCm39) |
Y405C |
probably benign |
Het |
| Adam19 |
A |
G |
11: 46,028,383 (GRCm39) |
K672R |
probably benign |
Het |
| Adamts7 |
C |
A |
9: 90,070,717 (GRCm39) |
P613T |
probably damaging |
Het |
| Adgrl1 |
G |
T |
8: 84,656,312 (GRCm39) |
|
probably null |
Het |
| Adrb1 |
A |
T |
19: 56,711,800 (GRCm39) |
N333Y |
probably damaging |
Het |
| Aqp7 |
C |
T |
4: 41,034,884 (GRCm39) |
V190M |
possibly damaging |
Het |
| Atg101 |
T |
C |
15: 101,185,054 (GRCm39) |
F59L |
probably damaging |
Het |
| Capn12 |
T |
C |
7: 28,590,366 (GRCm39) |
S638P |
probably damaging |
Het |
| Ccm2l |
T |
C |
2: 152,907,922 (GRCm39) |
|
probably benign |
Het |
| Cdc14a |
A |
T |
3: 116,198,275 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
A |
T |
1: 110,066,037 (GRCm39) |
K770N |
possibly damaging |
Het |
| Clxn |
A |
G |
16: 14,738,652 (GRCm39) |
D161G |
probably damaging |
Het |
| Col23a1 |
A |
C |
11: 51,458,746 (GRCm39) |
E294D |
possibly damaging |
Het |
| Cped1 |
A |
T |
6: 22,233,595 (GRCm39) |
Y679F |
probably damaging |
Het |
| Ctu2 |
A |
G |
8: 123,205,792 (GRCm39) |
E180G |
probably benign |
Het |
| Cyp11b2 |
C |
T |
15: 74,722,914 (GRCm39) |
V495I |
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,810,668 (GRCm39) |
M1563K |
probably benign |
Het |
| Gabrg3 |
A |
T |
7: 56,632,460 (GRCm39) |
|
probably null |
Het |
| Hsd17b11 |
A |
G |
5: 104,151,036 (GRCm39) |
*233Q |
probably null |
Het |
| Klhl41 |
T |
C |
2: 69,500,902 (GRCm39) |
V121A |
possibly damaging |
Het |
| Kptn |
A |
T |
7: 15,854,050 (GRCm39) |
D56V |
probably damaging |
Het |
| L3mbtl4 |
T |
A |
17: 69,084,856 (GRCm39) |
I589N |
probably damaging |
Het |
| Lpl |
A |
T |
8: 69,347,378 (GRCm39) |
N177Y |
possibly damaging |
Het |
| Mecom |
A |
T |
3: 30,010,648 (GRCm39) |
|
probably benign |
Het |
| Mertk |
A |
G |
2: 128,632,192 (GRCm39) |
E707G |
probably damaging |
Het |
| Myo5a |
A |
T |
9: 75,037,276 (GRCm39) |
I160F |
probably damaging |
Het |
| Myo7a |
A |
T |
7: 97,751,800 (GRCm39) |
I81N |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Nipal1 |
C |
T |
5: 72,824,150 (GRCm39) |
R76C |
probably damaging |
Het |
| Noc3l |
C |
T |
19: 38,803,125 (GRCm39) |
|
probably null |
Het |
| Nt5e |
A |
G |
9: 88,237,787 (GRCm39) |
D239G |
probably damaging |
Het |
| Olr1 |
A |
C |
6: 129,479,117 (GRCm39) |
W34G |
probably damaging |
Het |
| Plekhf1 |
A |
T |
7: 37,920,799 (GRCm39) |
N256K |
probably benign |
Het |
| Psen2 |
T |
C |
1: 180,068,414 (GRCm39) |
T80A |
possibly damaging |
Het |
| Psg27 |
A |
G |
7: 18,294,417 (GRCm39) |
I330T |
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,328,783 (GRCm39) |
V2894A |
probably damaging |
Het |
| Sgcz |
A |
T |
8: 38,030,332 (GRCm39) |
D170E |
probably benign |
Het |
| Snrnp200 |
C |
T |
2: 127,075,233 (GRCm39) |
A1573V |
probably damaging |
Het |
| Steap3 |
C |
T |
1: 120,171,520 (GRCm39) |
G195D |
probably damaging |
Het |
| Tmem165 |
T |
A |
5: 76,347,356 (GRCm39) |
Y5* |
probably null |
Het |
| Tnpo1 |
C |
T |
13: 99,000,348 (GRCm39) |
E340K |
probably damaging |
Het |
| Vmn2r67 |
A |
T |
7: 84,799,118 (GRCm39) |
C530S |
probably damaging |
Het |
| Wdfy3 |
T |
A |
5: 101,992,465 (GRCm39) |
D3389V |
probably damaging |
Het |
| Zfp128 |
A |
C |
7: 12,624,953 (GRCm39) |
E440D |
probably benign |
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 |
|
|
IGL01443:Manba
|
APN |
3 |
135,250,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation