Incidental Mutation 'IGL02471:Manba'
| ID |
294754 |
| 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: 0.083)
|
| Stock # |
IGL02471
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
135191372-135277165 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 135212769 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029814]
[ENSMUST00000131610]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029814
|
| SMART Domains |
Protein: ENSMUSP00000029814
Gene: ENSMUSG00000028164
| 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 |
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: ENSMUST00000140893
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144654
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
T |
1: 71,297,357 (GRCm39) |
H2378N |
probably benign |
Het |
| Btaf1 |
C |
A |
19: 36,977,592 (GRCm39) |
A1470E |
probably damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,394,793 (GRCm39) |
D228G |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cldn18 |
T |
C |
9: 99,578,128 (GRCm39) |
D205G |
probably benign |
Het |
| Clip2 |
T |
C |
5: 134,546,876 (GRCm39) |
T231A |
probably benign |
Het |
| Cltc |
A |
G |
11: 86,608,860 (GRCm39) |
V723A |
probably damaging |
Het |
| Cpa3 |
C |
T |
3: 20,282,971 (GRCm39) |
|
probably null |
Het |
| Cyfip2 |
T |
G |
11: 46,091,630 (GRCm39) |
T1097P |
possibly damaging |
Het |
| Dnah9 |
T |
A |
11: 65,838,444 (GRCm39) |
R667* |
probably null |
Het |
| Dock10 |
T |
C |
1: 80,493,339 (GRCm39) |
E1878G |
probably damaging |
Het |
| Ermap |
G |
A |
4: 119,037,160 (GRCm39) |
H353Y |
probably damaging |
Het |
| Etfa |
A |
T |
9: 55,393,984 (GRCm39) |
|
probably null |
Het |
| F5 |
C |
T |
1: 164,001,860 (GRCm39) |
P188S |
probably damaging |
Het |
| Foxq1 |
G |
A |
13: 31,743,326 (GRCm39) |
E143K |
possibly damaging |
Het |
| Gsr |
C |
T |
8: 34,172,612 (GRCm39) |
|
probably benign |
Het |
| Hebp1 |
T |
A |
6: 135,132,274 (GRCm39) |
Y31F |
probably benign |
Het |
| Ighv1-14 |
T |
C |
12: 114,610,457 (GRCm39) |
|
noncoding transcript |
Het |
| Lamb1 |
T |
A |
12: 31,370,907 (GRCm39) |
D1319E |
probably damaging |
Het |
| Lrp5 |
A |
T |
19: 3,652,408 (GRCm39) |
V1154E |
probably benign |
Het |
| Mknk2 |
A |
T |
10: 80,503,955 (GRCm39) |
F319I |
probably damaging |
Het |
| Mup6 |
A |
T |
4: 60,003,971 (GRCm39) |
|
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,560,726 (GRCm39) |
T784A |
probably benign |
Het |
| Nt5dc1 |
T |
C |
10: 34,279,721 (GRCm39) |
E107G |
probably benign |
Het |
| Or11h6 |
A |
T |
14: 50,880,214 (GRCm39) |
I159F |
probably benign |
Het |
| Or56b34 |
T |
A |
7: 104,938,252 (GRCm39) |
F317L |
probably benign |
Het |
| Or9q2 |
G |
A |
19: 13,772,589 (GRCm39) |
P129S |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,622,530 (GRCm39) |
E41G |
probably damaging |
Het |
| Ptk2 |
T |
C |
15: 73,170,036 (GRCm39) |
D309G |
probably benign |
Het |
| Rab11fip5 |
A |
G |
6: 85,325,207 (GRCm39) |
S367P |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,310,275 (GRCm39) |
N224K |
probably benign |
Het |
| Rchy1 |
A |
T |
5: 92,105,405 (GRCm39) |
C65* |
probably null |
Het |
| Rgs18 |
T |
C |
1: 144,650,359 (GRCm39) |
D56G |
probably benign |
Het |
| Rtraf |
A |
C |
14: 19,862,296 (GRCm39) |
L197R |
probably damaging |
Het |
| Slc44a5 |
G |
T |
3: 153,962,213 (GRCm39) |
W382L |
probably damaging |
Het |
| Snx24 |
C |
T |
18: 53,518,241 (GRCm39) |
|
probably benign |
Het |
| Sphkap |
T |
C |
1: 83,253,897 (GRCm39) |
D1284G |
probably damaging |
Het |
| Tmem54 |
A |
G |
4: 129,002,111 (GRCm39) |
M53V |
probably benign |
Het |
| Trip6 |
G |
A |
5: 137,308,618 (GRCm39) |
P414S |
probably benign |
Het |
| Vmn1r38 |
A |
G |
6: 66,753,751 (GRCm39) |
Y122H |
probably benign |
Het |
| Wapl |
T |
A |
14: 34,413,877 (GRCm39) |
N246K |
possibly damaging |
Het |
| Zfp12 |
G |
A |
5: 143,230,551 (GRCm39) |
G293R |
probably damaging |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
| Zfp446 |
T |
G |
7: 12,716,181 (GRCm39) |
V209G |
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
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 |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation