Incidental Mutation 'R4712:Manba'
| ID |
353306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Manba
|
| Ensembl Gene |
ENSMUSG00000028164 |
| Gene Name |
mannosidase, beta A, lysosomal |
| Synonyms |
B930014J03Rik, Bmn, 2410030O07Rik |
| MMRRC Submission |
041981-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R4712 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
135191372-135277165 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135250575 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 401
(Y401H)
|
| 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: Y401H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029814
Gene: ENSMUSG00000028164
AA Change: Y401H
| 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
|
| Meta Mutation Damage Score |
0.9527 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
98% (54/55) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
G |
T |
15: 83,111,810 (GRCm39) |
N324K |
probably damaging |
Het |
| Ahcyl1 |
A |
G |
3: 107,574,547 (GRCm39) |
|
probably benign |
Het |
| Atrnl1 |
T |
A |
19: 57,641,382 (GRCm39) |
N343K |
probably benign |
Het |
| Batf2 |
C |
A |
19: 6,221,357 (GRCm39) |
Q56K |
probably benign |
Het |
| Cfh |
A |
T |
1: 140,036,274 (GRCm39) |
V691D |
probably damaging |
Het |
| Chst10 |
T |
C |
1: 38,904,922 (GRCm39) |
Y257C |
probably damaging |
Het |
| Dlg5 |
A |
T |
14: 24,228,051 (GRCm39) |
L290Q |
possibly damaging |
Het |
| Dnah2 |
T |
A |
11: 69,407,416 (GRCm39) |
T456S |
possibly damaging |
Het |
| Dnah6 |
T |
C |
6: 73,001,995 (GRCm39) |
|
probably null |
Het |
| Efhb |
T |
C |
17: 53,758,697 (GRCm39) |
K313R |
probably damaging |
Het |
| Eprs1 |
T |
A |
1: 185,160,305 (GRCm39) |
N1500K |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,183,236 (GRCm39) |
T1748A |
probably benign |
Het |
| Gfra2 |
T |
A |
14: 71,163,377 (GRCm39) |
L87H |
probably damaging |
Het |
| Gfral |
T |
A |
9: 76,100,727 (GRCm39) |
Y237F |
possibly damaging |
Het |
| Gpr137b |
T |
C |
13: 13,533,974 (GRCm39) |
N361D |
probably benign |
Het |
| Gsdmc |
G |
T |
15: 63,651,386 (GRCm39) |
T272N |
probably benign |
Het |
| Hspe1 |
T |
A |
1: 55,128,269 (GRCm39) |
S21R |
probably benign |
Het |
| Kctd16 |
G |
T |
18: 40,390,233 (GRCm39) |
|
probably benign |
Het |
| Kif21a |
A |
T |
15: 90,868,958 (GRCm39) |
I483N |
probably damaging |
Het |
| Kif4-ps |
T |
C |
12: 101,112,534 (GRCm39) |
|
noncoding transcript |
Het |
| Lpp |
T |
C |
16: 24,580,407 (GRCm39) |
V166A |
possibly damaging |
Het |
| Lrp2 |
A |
C |
2: 69,336,895 (GRCm39) |
D1292E |
probably damaging |
Het |
| Msh2 |
T |
G |
17: 87,985,813 (GRCm39) |
|
probably benign |
Het |
| Myef2 |
A |
T |
2: 124,930,757 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
T |
A |
11: 62,235,660 (GRCm39) |
Q598L |
probably damaging |
Het |
| Obox3 |
A |
G |
7: 15,360,764 (GRCm39) |
V125A |
probably benign |
Het |
| Or1n1 |
A |
T |
2: 36,750,381 (GRCm39) |
|
probably null |
Het |
| Or2b4 |
T |
A |
17: 38,116,591 (GRCm39) |
L185* |
probably null |
Het |
| Or9k7 |
G |
A |
10: 130,046,291 (GRCm39) |
T236I |
possibly damaging |
Het |
| Pcdh9 |
C |
A |
14: 94,126,067 (GRCm39) |
L34F |
probably damaging |
Het |
| Pcdha3 |
A |
T |
18: 37,079,560 (GRCm39) |
I101F |
probably damaging |
Het |
| Pced1b |
A |
G |
15: 97,282,675 (GRCm39) |
E238G |
probably benign |
Het |
| Pla2r1 |
A |
T |
2: 60,258,994 (GRCm39) |
N1131K |
probably damaging |
Het |
| Prmt1 |
A |
T |
7: 44,631,060 (GRCm39) |
S99R |
probably damaging |
Het |
| Qng1 |
G |
A |
13: 58,529,617 (GRCm39) |
R332C |
probably benign |
Het |
| Rbp3 |
T |
C |
14: 33,682,615 (GRCm39) |
S1116P |
probably damaging |
Het |
| Rhobtb2 |
T |
C |
14: 70,037,160 (GRCm39) |
D88G |
probably damaging |
Het |
| Rngtt |
A |
G |
4: 33,379,394 (GRCm39) |
E432G |
probably benign |
Het |
| Sh3rf1 |
A |
G |
8: 61,814,793 (GRCm39) |
T451A |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Siva1 |
T |
A |
12: 112,613,336 (GRCm39) |
D61E |
probably benign |
Het |
| Skor1 |
A |
C |
9: 63,046,855 (GRCm39) |
|
probably null |
Het |
| Slc20a1 |
A |
G |
2: 129,041,611 (GRCm39) |
|
probably benign |
Het |
| Slc2a7 |
A |
G |
4: 150,252,926 (GRCm39) |
E522G |
probably benign |
Het |
| Tmprss7 |
A |
T |
16: 45,511,123 (GRCm39) |
I85N |
probably damaging |
Het |
| Tpx2 |
T |
A |
2: 152,726,958 (GRCm39) |
D408E |
probably damaging |
Het |
| Ulk4 |
A |
T |
9: 121,073,436 (GRCm39) |
I551N |
probably benign |
Het |
| Zfat |
A |
T |
15: 67,982,324 (GRCm39) |
|
probably null |
Het |
| Zfp101 |
C |
A |
17: 33,613,457 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTGTTGATTGGAGCAAAATC -3'
(R):5'- GCTATAACCCACCTATAATGGCTATAC -3'
Sequencing Primer
(F):5'- CATTCATTCATTCATTCCCTTAACTG -3'
(R):5'- GCAACTATAGCTCATTTACTCCTTGG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation