Incidental Mutation 'R5889:Manba'
ID |
456211 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Manba
|
Ensembl Gene |
ENSMUSG00000028164 |
Gene Name |
mannosidase, beta A, lysosomal |
Synonyms |
B930014J03Rik, Bmn, 2410030O07Rik |
MMRRC Submission |
044090-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R5889 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
135191372-135277165 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 135230359 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Stop codon
at position 311
(G311*)
|
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: G311*
|
SMART Domains |
Protein: ENSMUSP00000029814 Gene: ENSMUSG00000028164 AA Change: G311*
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: ENSMUST00000121735
|
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
|
Meta Mutation Damage Score |
0.9706 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.3%
|
Validation Efficiency |
100% (63/63) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930568D16Rik |
T |
C |
2: 35,244,461 (GRCm39) |
E297G |
probably damaging |
Het |
Astn1 |
C |
T |
1: 158,427,950 (GRCm39) |
P707L |
possibly damaging |
Het |
Cep290 |
T |
C |
10: 100,334,936 (GRCm39) |
S319P |
possibly damaging |
Het |
Chrna4 |
A |
C |
2: 180,670,451 (GRCm39) |
L435W |
probably damaging |
Het |
Cilp |
C |
A |
9: 65,187,625 (GRCm39) |
A1240D |
possibly damaging |
Het |
Col17a1 |
A |
G |
19: 47,637,511 (GRCm39) |
F1249S |
possibly damaging |
Het |
Creb3l3 |
T |
C |
10: 80,928,367 (GRCm39) |
|
probably benign |
Het |
Cyp4f40 |
C |
A |
17: 32,894,731 (GRCm39) |
T432N |
probably benign |
Het |
Dsg1c |
T |
G |
18: 20,416,658 (GRCm39) |
I853R |
possibly damaging |
Het |
Ebna1bp2 |
T |
A |
4: 118,478,620 (GRCm39) |
D34E |
probably damaging |
Het |
Edc4 |
C |
T |
8: 106,614,654 (GRCm39) |
T112I |
possibly damaging |
Het |
Enpep |
T |
A |
3: 129,106,227 (GRCm39) |
Y333F |
probably damaging |
Het |
Exoc6 |
A |
G |
19: 37,570,693 (GRCm39) |
H291R |
probably damaging |
Het |
Fbln5 |
G |
T |
12: 101,731,485 (GRCm39) |
N236K |
probably damaging |
Het |
Fndc8 |
A |
T |
11: 82,789,555 (GRCm39) |
T238S |
probably damaging |
Het |
Frem3 |
T |
C |
8: 81,340,917 (GRCm39) |
V1070A |
probably damaging |
Het |
Gabra4 |
A |
T |
5: 71,729,234 (GRCm39) |
N515K |
possibly damaging |
Het |
Gemin5 |
A |
G |
11: 58,013,181 (GRCm39) |
V1422A |
possibly damaging |
Het |
Gm10118 |
A |
G |
10: 63,762,890 (GRCm39) |
|
probably benign |
Het |
Grm5 |
A |
G |
7: 87,252,281 (GRCm39) |
D177G |
probably damaging |
Het |
Gtf2h4 |
G |
A |
17: 35,981,792 (GRCm39) |
P147L |
possibly damaging |
Het |
Hgsnat |
T |
C |
8: 26,453,395 (GRCm39) |
D265G |
probably damaging |
Het |
Hsd17b4 |
T |
A |
18: 50,310,276 (GRCm39) |
L513Q |
probably damaging |
Het |
Hsd17b7 |
A |
T |
1: 169,783,487 (GRCm39) |
M307K |
probably benign |
Het |
Hspa5 |
T |
C |
2: 34,664,629 (GRCm39) |
V361A |
probably damaging |
Het |
Iqgap2 |
A |
G |
13: 95,768,550 (GRCm39) |
V1450A |
probably benign |
Het |
Itpr3 |
A |
G |
17: 27,334,039 (GRCm39) |
E2037G |
probably damaging |
Het |
Itprid2 |
T |
A |
2: 79,488,072 (GRCm39) |
D718E |
probably damaging |
Het |
Lama5 |
T |
C |
2: 179,835,467 (GRCm39) |
|
probably benign |
Het |
Mettl24 |
T |
A |
10: 40,622,486 (GRCm39) |
V236E |
probably benign |
Het |
Myh3 |
A |
G |
11: 66,977,201 (GRCm39) |
D310G |
probably damaging |
Het |
Ncoa4 |
A |
T |
14: 31,888,616 (GRCm39) |
|
probably benign |
Het |
Nop56 |
G |
T |
2: 130,117,902 (GRCm39) |
R126L |
probably damaging |
Het |
Nos3 |
C |
A |
5: 24,573,775 (GRCm39) |
|
probably benign |
Het |
Or13c7b |
T |
C |
4: 43,820,492 (GRCm39) |
M290V |
possibly damaging |
Het |
Pcdhga3 |
T |
A |
18: 37,809,662 (GRCm39) |
V705D |
probably damaging |
Het |
Prom2 |
C |
T |
2: 127,371,331 (GRCm39) |
A776T |
possibly damaging |
Het |
Prss48 |
A |
G |
3: 85,905,492 (GRCm39) |
I127T |
probably damaging |
Het |
Rtca |
T |
C |
3: 116,293,232 (GRCm39) |
Y193C |
possibly damaging |
Het |
Samd9l |
T |
C |
6: 3,376,460 (GRCm39) |
Y267C |
probably damaging |
Het |
Scube3 |
A |
G |
17: 28,379,887 (GRCm39) |
R272G |
possibly damaging |
Het |
Sprr1a |
G |
T |
3: 92,391,951 (GRCm39) |
H17N |
probably benign |
Het |
Stard3 |
G |
C |
11: 98,266,361 (GRCm39) |
Q120H |
probably benign |
Het |
Supt6 |
A |
G |
11: 78,103,574 (GRCm39) |
I1377T |
probably damaging |
Het |
Svop |
A |
T |
5: 114,203,692 (GRCm39) |
S30T |
probably benign |
Het |
Syne2 |
T |
A |
12: 76,119,026 (GRCm39) |
L5882* |
probably null |
Het |
Tanc2 |
G |
T |
11: 105,812,633 (GRCm39) |
R1359L |
probably benign |
Het |
Tmc7 |
A |
C |
7: 118,165,549 (GRCm39) |
L55R |
probably benign |
Het |
Trappc11 |
G |
A |
8: 47,972,613 (GRCm39) |
A320V |
probably benign |
Het |
Ttll8 |
G |
C |
15: 88,818,142 (GRCm39) |
P178A |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,560,993 (GRCm39) |
E20809G |
probably damaging |
Het |
Tubb2a |
A |
T |
13: 34,259,451 (GRCm39) |
V113E |
possibly damaging |
Het |
Ube2d1 |
A |
T |
10: 71,095,699 (GRCm39) |
|
probably benign |
Het |
Usp48 |
T |
C |
4: 137,343,723 (GRCm39) |
V452A |
probably benign |
Het |
Vldlr |
T |
A |
19: 27,217,064 (GRCm39) |
I39N |
probably damaging |
Het |
Wbp1l |
C |
T |
19: 46,642,619 (GRCm39) |
R191* |
probably null |
Het |
Zyg11b |
C |
T |
4: 108,094,577 (GRCm39) |
W669* |
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 |
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 |
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'- CGGCTTTCAGGACACAGTTTG -3'
(R):5'- AAGCCTGATGCATTTAGGAACC -3'
Sequencing Primer
(F):5'- CACAGTTTGTGCTTCAGCG -3'
(R):5'- CTGATGCATTTAGGAACCCACAATG -3'
|
Posted On |
2017-02-15 |