Incidental Mutation 'IGL03342:Manba'
| ID |
417265 |
| 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 # |
IGL03342
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
135191372-135277165 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 135223748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 212
(I212F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029814
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029814]
[ENSMUST00000131610]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029814
AA Change: I212F
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000029814
Gene: ENSMUSG00000028164
AA Change: I212F
| 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: ENSMUST00000134095
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140893
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
A |
11: 110,178,517 (GRCm39) |
T1152M |
possibly damaging |
Het |
| Abcg2 |
G |
T |
6: 58,642,120 (GRCm39) |
R136I |
probably damaging |
Het |
| Acap2 |
A |
G |
16: 30,924,310 (GRCm39) |
V641A |
probably damaging |
Het |
| Afg3l2 |
A |
T |
18: 67,540,390 (GRCm39) |
D706E |
probably benign |
Het |
| Bbs1 |
A |
T |
19: 4,947,621 (GRCm39) |
L311Q |
probably damaging |
Het |
| Cacna1e |
A |
G |
1: 154,342,690 (GRCm39) |
|
probably null |
Het |
| Car2 |
A |
T |
3: 14,960,629 (GRCm39) |
D129V |
probably benign |
Het |
| Catsper2 |
T |
C |
2: 121,237,217 (GRCm39) |
I228V |
probably damaging |
Het |
| Cdhr3 |
C |
A |
12: 33,101,054 (GRCm39) |
R452M |
probably benign |
Het |
| Chrm1 |
A |
T |
19: 8,656,672 (GRCm39) |
Q459L |
probably benign |
Het |
| Cnbd1 |
C |
T |
4: 19,098,264 (GRCm39) |
|
probably benign |
Het |
| Coa7 |
A |
G |
4: 108,189,426 (GRCm39) |
D42G |
probably damaging |
Het |
| Ctsz |
T |
C |
2: 174,270,933 (GRCm39) |
Y187C |
possibly damaging |
Het |
| Cxcr6 |
C |
T |
9: 123,639,472 (GRCm39) |
Q165* |
probably null |
Het |
| Cyp3a11 |
G |
A |
5: 145,791,927 (GRCm39) |
P489S |
probably damaging |
Het |
| Cyp4f15 |
A |
T |
17: 32,916,910 (GRCm39) |
I276F |
probably damaging |
Het |
| Dsg1b |
T |
A |
18: 20,542,517 (GRCm39) |
M1008K |
probably benign |
Het |
| Dsg4 |
T |
A |
18: 20,584,880 (GRCm39) |
I198N |
probably damaging |
Het |
| Dtymk |
C |
A |
1: 93,722,541 (GRCm39) |
E87D |
probably benign |
Het |
| Dysf |
T |
A |
6: 84,167,854 (GRCm39) |
D1749E |
probably benign |
Het |
| Dzip3 |
G |
T |
16: 48,749,986 (GRCm39) |
Q1050K |
probably damaging |
Het |
| Echs1 |
C |
T |
7: 139,690,026 (GRCm39) |
|
probably benign |
Het |
| Enc1 |
T |
A |
13: 97,382,978 (GRCm39) |
I496N |
possibly damaging |
Het |
| Epc2 |
A |
T |
2: 49,426,658 (GRCm39) |
Y139F |
probably benign |
Het |
| Exo1 |
A |
T |
1: 175,719,693 (GRCm39) |
N246I |
probably benign |
Het |
| Flg2 |
A |
G |
3: 93,108,542 (GRCm39) |
K190R |
probably damaging |
Het |
| Gm5424 |
A |
T |
10: 61,907,971 (GRCm39) |
|
noncoding transcript |
Het |
| Gpbp1l1 |
A |
C |
4: 116,431,740 (GRCm39) |
T133P |
probably benign |
Het |
| Gpr155 |
A |
G |
2: 73,180,022 (GRCm39) |
F146S |
probably damaging |
Het |
| Grm1 |
T |
A |
10: 10,955,715 (GRCm39) |
I190L |
probably benign |
Het |
| Hif3a |
C |
T |
7: 16,775,047 (GRCm39) |
R515H |
possibly damaging |
Het |
| Itprid2 |
G |
A |
2: 79,490,796 (GRCm39) |
M971I |
probably damaging |
Het |
| Kdm5b |
G |
A |
1: 134,530,314 (GRCm39) |
D442N |
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,710,981 (GRCm39) |
E88G |
possibly damaging |
Het |
| Mapk7 |
A |
G |
11: 61,382,216 (GRCm39) |
L163P |
probably damaging |
Het |
| Med1 |
A |
T |
11: 98,080,006 (GRCm39) |
|
probably null |
Het |
| Mtrf1 |
T |
A |
14: 79,653,312 (GRCm39) |
|
probably null |
Het |
| Mtrf1 |
A |
G |
14: 79,653,420 (GRCm39) |
D365G |
possibly damaging |
Het |
| Mtrf1 |
C |
T |
14: 79,653,311 (GRCm39) |
|
probably benign |
Het |
| Myadm |
C |
T |
7: 3,345,403 (GRCm39) |
T55I |
possibly damaging |
Het |
| Nlgn1 |
A |
T |
3: 26,187,411 (GRCm39) |
I158N |
probably damaging |
Het |
| Nlrc4 |
A |
G |
17: 74,752,313 (GRCm39) |
L690P |
probably damaging |
Het |
| Nlrp1a |
A |
T |
11: 71,013,617 (GRCm39) |
D544E |
probably benign |
Het |
| Nlrp2 |
A |
T |
7: 5,320,482 (GRCm39) |
L20Q |
probably damaging |
Het |
| Or1e30 |
T |
A |
11: 73,678,309 (GRCm39) |
S182T |
probably benign |
Het |
| Or8k21 |
A |
T |
2: 86,145,579 (GRCm39) |
I17N |
possibly damaging |
Het |
| Or9i16 |
A |
G |
19: 13,864,801 (GRCm39) |
Y258H |
probably damaging |
Het |
| Padi3 |
G |
A |
4: 140,537,909 (GRCm39) |
Q4* |
probably null |
Het |
| Pfkl |
A |
T |
10: 77,841,309 (GRCm39) |
I13K |
possibly damaging |
Het |
| Pinx1 |
A |
G |
14: 64,157,018 (GRCm39) |
D315G |
probably benign |
Het |
| Prickle3 |
A |
G |
X: 7,529,735 (GRCm39) |
D47G |
probably benign |
Het |
| Psmd10 |
A |
T |
X: 139,857,403 (GRCm39) |
V5E |
probably damaging |
Het |
| Rasgrf2 |
C |
A |
13: 92,136,098 (GRCm39) |
V605F |
probably damaging |
Het |
| Smarca1 |
G |
T |
X: 46,981,146 (GRCm39) |
A84D |
probably damaging |
Het |
| Sp2 |
A |
G |
11: 96,852,588 (GRCm39) |
V112A |
probably damaging |
Het |
| Srgap3 |
G |
A |
6: 112,752,648 (GRCm39) |
R279C |
probably damaging |
Het |
| Trav21-dv12 |
T |
C |
14: 54,113,501 (GRCm39) |
L10P |
unknown |
Het |
| Vmn1r236 |
A |
T |
17: 21,507,236 (GRCm39) |
H118L |
probably benign |
Het |
| Vmn2r120 |
A |
G |
17: 57,816,372 (GRCm39) |
M661T |
probably benign |
Het |
| Vmn2r17 |
A |
T |
5: 109,575,782 (GRCm39) |
I218F |
probably damaging |
Het |
| Vmn2r41 |
G |
T |
7: 8,141,682 (GRCm39) |
A594D |
probably damaging |
Het |
| Zc2hc1a |
A |
G |
3: 7,589,283 (GRCm39) |
E103G |
possibly damaging |
Het |
| Zfp62 |
G |
T |
11: 49,106,298 (GRCm39) |
G130* |
probably null |
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 |
|
IGL03237:Manba
|
APN |
3 |
135,250,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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