Incidental Mutation 'IGL01374:Manba'
| ID |
78657 |
| 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 # |
IGL01374
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
135191372-135277165 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 135260541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 575
(W575*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029814
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029814]
[ENSMUST00000131610]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029814
AA Change: W575*
|
| SMART Domains |
Protein: ENSMUSP00000029814
Gene: ENSMUSG00000028164
AA Change: W575*
| 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: ENSMUST00000130147
|
| 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: ENSMUST00000134478
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
C |
7: 130,747,830 (GRCm39) |
H54R |
probably benign |
Het |
| Acsl6 |
T |
C |
11: 54,229,245 (GRCm39) |
V359A |
probably damaging |
Het |
| Aldh3a2 |
C |
T |
11: 61,139,828 (GRCm39) |
V435I |
probably benign |
Het |
| Atm |
A |
T |
9: 53,443,024 (GRCm39) |
S80T |
possibly damaging |
Het |
| Atp8b4 |
A |
T |
2: 126,225,577 (GRCm39) |
|
probably benign |
Het |
| Atxn1 |
T |
C |
13: 45,721,903 (GRCm39) |
|
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,250,806 (GRCm39) |
E641G |
probably damaging |
Het |
| Clpb |
T |
C |
7: 101,422,335 (GRCm39) |
V346A |
probably damaging |
Het |
| Ctnnbl1 |
T |
A |
2: 157,678,613 (GRCm39) |
|
probably null |
Het |
| Cyp2b19 |
C |
T |
7: 26,458,504 (GRCm39) |
P73L |
probably benign |
Het |
| Dcc |
T |
C |
18: 71,507,624 (GRCm39) |
Y916C |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 38,941,647 (GRCm39) |
N180S |
probably damaging |
Het |
| Foxi1 |
A |
C |
11: 34,157,984 (GRCm39) |
C14G |
probably damaging |
Het |
| Fut4 |
G |
T |
9: 14,662,786 (GRCm39) |
F169L |
probably benign |
Het |
| Grip1 |
T |
C |
10: 119,885,273 (GRCm39) |
S748P |
probably benign |
Het |
| Hnrnpr |
T |
C |
4: 136,054,729 (GRCm39) |
|
probably benign |
Het |
| Ifnz |
G |
A |
4: 88,701,578 (GRCm39) |
|
probably benign |
Het |
| Krt28 |
A |
G |
11: 99,262,294 (GRCm39) |
V232A |
probably benign |
Het |
| Lyar |
C |
A |
5: 38,385,391 (GRCm39) |
|
probably null |
Het |
| Morc3 |
T |
A |
16: 93,641,101 (GRCm39) |
D44E |
probably damaging |
Het |
| Mrc2 |
T |
A |
11: 105,238,469 (GRCm39) |
Y1205* |
probably null |
Het |
| Myh2 |
A |
T |
11: 67,068,250 (GRCm39) |
T293S |
probably benign |
Het |
| Nlrp10 |
T |
A |
7: 108,523,788 (GRCm39) |
K564I |
possibly damaging |
Het |
| Nuak1 |
A |
G |
10: 84,210,532 (GRCm39) |
S519P |
probably damaging |
Het |
| Or12k5 |
T |
C |
2: 36,894,942 (GRCm39) |
H228R |
probably benign |
Het |
| Or9m2 |
T |
C |
2: 87,820,892 (GRCm39) |
F146L |
probably benign |
Het |
| Padi2 |
T |
A |
4: 140,660,496 (GRCm39) |
N325K |
probably damaging |
Het |
| Pcdhb19 |
A |
T |
18: 37,631,042 (GRCm39) |
Y279F |
probably damaging |
Het |
| Phldb1 |
A |
G |
9: 44,607,464 (GRCm39) |
L1247P |
probably damaging |
Het |
| Rmdn3 |
A |
G |
2: 118,984,428 (GRCm39) |
V108A |
probably damaging |
Het |
| Slc22a5 |
A |
G |
11: 53,758,490 (GRCm39) |
F437L |
probably benign |
Het |
| Slc3a2 |
C |
T |
19: 8,690,701 (GRCm39) |
|
probably null |
Het |
| Slc5a3 |
T |
A |
16: 91,874,006 (GRCm39) |
M21K |
probably benign |
Het |
| Spink5 |
T |
A |
18: 44,122,471 (GRCm39) |
F312Y |
possibly damaging |
Het |
| Stab1 |
T |
C |
14: 30,869,032 (GRCm39) |
Y1531C |
probably damaging |
Het |
| Tln2 |
C |
A |
9: 67,169,205 (GRCm39) |
A433S |
probably damaging |
Het |
| Usp24 |
C |
T |
4: 106,237,296 (GRCm39) |
L1076F |
possibly damaging |
Het |
| Vmn2r117 |
T |
C |
17: 23,697,356 (GRCm39) |
Y112C |
possibly damaging |
Het |
| Vmn2r16 |
C |
T |
5: 109,478,283 (GRCm39) |
L13F |
probably benign |
Het |
| Vmn2r76 |
T |
C |
7: 85,874,857 (GRCm39) |
M707V |
probably benign |
Het |
| Zmym4 |
A |
T |
4: 126,762,750 (GRCm39) |
F1358I |
probably damaging |
Het |
|
| Other mutations in Manba |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-11-05 |
Incidental Mutation