Incidental Mutation 'IGL01111:Man1a'
ID |
52112 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Man1a
|
Ensembl Gene |
ENSMUSG00000003746 |
Gene Name |
mannosidase 1, alpha |
Synonyms |
PCR1, mannosyl-oligosaccharide alpha-1,2-mannosidase |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.818)
|
Stock # |
IGL01111
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
53780881-53952705 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 53853109 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151568
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003843]
[ENSMUST00000105470]
[ENSMUST00000218317]
[ENSMUST00000220088]
|
AlphaFold |
P45700 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003843
|
SMART Domains |
Protein: ENSMUSP00000003843 Gene: ENSMUSG00000003746
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
transmembrane domain
|
44 |
66 |
N/A |
INTRINSIC |
coiled coil region
|
116 |
151 |
N/A |
INTRINSIC |
Pfam:Glyco_hydro_47
|
204 |
642 |
4.6e-150 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105470
|
SMART Domains |
Protein: ENSMUSP00000101110 Gene: ENSMUSG00000003746
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
transmembrane domain
|
44 |
66 |
N/A |
INTRINSIC |
coiled coil region
|
116 |
151 |
N/A |
INTRINSIC |
Pfam:Glyco_hydro_47
|
204 |
642 |
4.5e-153 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146483
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218317
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219234
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220088
|
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 class I mammalian Golgi 1,2-mannosidase which is a type II transmembrane protein. This protein catalyzes the hydrolysis of three terminal mannose residues from peptide-bound Man(9)-GlcNAc(2) oligosaccharides and belongs to family 47 of glycosyl hydrolases. [provided by RefSeq, Jul 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ammecr1l |
T |
A |
18: 31,905,123 (GRCm39) |
Y121* |
probably null |
Het |
Apc |
C |
T |
18: 34,448,189 (GRCm39) |
T1661I |
possibly damaging |
Het |
Ccdc13 |
T |
C |
9: 121,639,150 (GRCm39) |
|
probably benign |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Cpt1c |
T |
C |
7: 44,614,978 (GRCm39) |
H325R |
possibly damaging |
Het |
Cyp2a22 |
T |
C |
7: 26,635,883 (GRCm39) |
K227E |
probably damaging |
Het |
Ddx10 |
T |
C |
9: 53,071,248 (GRCm39) |
K682E |
possibly damaging |
Het |
Dlg2 |
T |
C |
7: 91,098,971 (GRCm39) |
Y123H |
possibly damaging |
Het |
Dnaaf9 |
G |
T |
2: 130,578,518 (GRCm39) |
D655E |
possibly damaging |
Het |
Dnah11 |
A |
T |
12: 118,106,669 (GRCm39) |
|
probably benign |
Het |
Dpysl2 |
T |
C |
14: 67,071,681 (GRCm39) |
E153G |
probably damaging |
Het |
Edrf1 |
T |
A |
7: 133,260,282 (GRCm39) |
Y64* |
probably null |
Het |
Ephb2 |
A |
T |
4: 136,384,721 (GRCm39) |
S897T |
probably benign |
Het |
Flt1 |
A |
G |
5: 147,515,146 (GRCm39) |
I1092T |
probably damaging |
Het |
Gabra4 |
T |
C |
5: 71,790,972 (GRCm39) |
Y290C |
probably damaging |
Het |
Hectd2 |
A |
T |
19: 36,574,520 (GRCm39) |
H67L |
probably damaging |
Het |
Itgb2 |
T |
C |
10: 77,377,834 (GRCm39) |
L11P |
probably damaging |
Het |
Jmy |
T |
C |
13: 93,577,529 (GRCm39) |
R880G |
probably damaging |
Het |
Klhl2 |
A |
G |
8: 65,202,081 (GRCm39) |
C532R |
probably damaging |
Het |
Kpna1 |
A |
G |
16: 35,833,259 (GRCm39) |
|
probably benign |
Het |
L3mbtl2 |
T |
C |
15: 81,569,099 (GRCm39) |
V591A |
possibly damaging |
Het |
Ldc1 |
T |
A |
4: 130,115,518 (GRCm39) |
D10V |
probably benign |
Het |
Lepr |
A |
T |
4: 101,671,852 (GRCm39) |
N959Y |
possibly damaging |
Het |
Mov10 |
A |
T |
3: 104,708,721 (GRCm39) |
S431T |
possibly damaging |
Het |
Mx2 |
A |
T |
16: 97,359,919 (GRCm39) |
Q563L |
probably benign |
Het |
Nrap |
A |
T |
19: 56,333,990 (GRCm39) |
Y874N |
probably damaging |
Het |
Nup160 |
T |
C |
2: 90,563,553 (GRCm39) |
I1373T |
probably benign |
Het |
Nwd2 |
A |
T |
5: 63,964,643 (GRCm39) |
D1409V |
probably damaging |
Het |
Obsl1 |
A |
T |
1: 75,473,789 (GRCm39) |
V744E |
possibly damaging |
Het |
Or51l4 |
T |
A |
7: 103,404,580 (GRCm39) |
T71S |
probably benign |
Het |
Pgap1 |
T |
C |
1: 54,570,102 (GRCm39) |
K315R |
probably benign |
Het |
Rab8a |
T |
C |
8: 72,929,700 (GRCm39) |
V114A |
probably damaging |
Het |
Sh2d6 |
T |
C |
6: 72,496,812 (GRCm39) |
T73A |
probably benign |
Het |
Shroom1 |
A |
G |
11: 53,354,875 (GRCm39) |
E265G |
probably damaging |
Het |
Slc8b1 |
G |
A |
5: 120,671,000 (GRCm39) |
V529M |
probably damaging |
Het |
Srbd1 |
G |
T |
17: 86,405,961 (GRCm39) |
A613E |
probably benign |
Het |
Stat1 |
G |
A |
1: 52,182,120 (GRCm39) |
|
probably null |
Het |
Tbck |
A |
G |
3: 132,400,168 (GRCm39) |
H73R |
probably damaging |
Het |
Thg1l |
A |
T |
11: 45,839,051 (GRCm39) |
D220E |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,608,667 (GRCm39) |
G16037D |
probably damaging |
Het |
Unc13b |
A |
G |
4: 43,096,927 (GRCm39) |
E100G |
possibly damaging |
Het |
Vmn2r81 |
T |
A |
10: 79,083,831 (GRCm39) |
D68E |
probably benign |
Het |
Xpo6 |
T |
C |
7: 125,728,740 (GRCm39) |
T505A |
probably benign |
Het |
Zfp976 |
T |
C |
7: 42,265,711 (GRCm39) |
K25E |
probably damaging |
Het |
|
Other mutations in Man1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01146:Man1a
|
APN |
10 |
53,783,615 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01412:Man1a
|
APN |
10 |
53,950,810 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02009:Man1a
|
APN |
10 |
53,801,621 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02026:Man1a
|
APN |
10 |
53,890,569 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02745:Man1a
|
APN |
10 |
53,853,206 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02851:Man1a
|
APN |
10 |
53,795,340 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02929:Man1a
|
APN |
10 |
53,801,531 (GRCm39) |
missense |
probably benign |
0.00 |
R0046:Man1a
|
UTSW |
10 |
53,795,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R0046:Man1a
|
UTSW |
10 |
53,795,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R0101:Man1a
|
UTSW |
10 |
53,951,120 (GRCm39) |
start codon destroyed |
probably null |
|
R0200:Man1a
|
UTSW |
10 |
53,950,594 (GRCm39) |
missense |
probably damaging |
0.96 |
R0463:Man1a
|
UTSW |
10 |
53,950,594 (GRCm39) |
missense |
probably damaging |
0.96 |
R0947:Man1a
|
UTSW |
10 |
53,809,619 (GRCm39) |
nonsense |
probably null |
|
R1219:Man1a
|
UTSW |
10 |
53,795,249 (GRCm39) |
splice site |
probably benign |
|
R1876:Man1a
|
UTSW |
10 |
53,795,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R2142:Man1a
|
UTSW |
10 |
53,811,094 (GRCm39) |
missense |
probably damaging |
1.00 |
R2219:Man1a
|
UTSW |
10 |
53,853,145 (GRCm39) |
missense |
probably damaging |
0.99 |
R3117:Man1a
|
UTSW |
10 |
53,906,890 (GRCm39) |
missense |
probably damaging |
0.97 |
R3119:Man1a
|
UTSW |
10 |
53,906,890 (GRCm39) |
missense |
probably damaging |
0.97 |
R4727:Man1a
|
UTSW |
10 |
53,783,668 (GRCm39) |
splice site |
probably null |
|
R4942:Man1a
|
UTSW |
10 |
53,809,586 (GRCm39) |
critical splice donor site |
probably null |
|
R5493:Man1a
|
UTSW |
10 |
53,950,576 (GRCm39) |
missense |
probably benign |
0.25 |
R5921:Man1a
|
UTSW |
10 |
53,783,606 (GRCm39) |
missense |
probably damaging |
0.97 |
R5965:Man1a
|
UTSW |
10 |
53,809,586 (GRCm39) |
critical splice donor site |
probably benign |
|
R6084:Man1a
|
UTSW |
10 |
53,795,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R6199:Man1a
|
UTSW |
10 |
53,890,552 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6362:Man1a
|
UTSW |
10 |
53,950,891 (GRCm39) |
missense |
probably benign |
0.25 |
R6543:Man1a
|
UTSW |
10 |
53,811,077 (GRCm39) |
nonsense |
probably null |
|
R6711:Man1a
|
UTSW |
10 |
53,809,588 (GRCm39) |
missense |
probably benign |
0.00 |
R6982:Man1a
|
UTSW |
10 |
53,950,819 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7061:Man1a
|
UTSW |
10 |
53,796,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R7063:Man1a
|
UTSW |
10 |
53,906,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R7220:Man1a
|
UTSW |
10 |
53,796,331 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7361:Man1a
|
UTSW |
10 |
53,784,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R7392:Man1a
|
UTSW |
10 |
53,795,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R7566:Man1a
|
UTSW |
10 |
53,795,330 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7864:Man1a
|
UTSW |
10 |
53,906,843 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8338:Man1a
|
UTSW |
10 |
53,801,643 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9294:Man1a
|
UTSW |
10 |
53,809,587 (GRCm39) |
critical splice donor site |
probably null |
|
R9590:Man1a
|
UTSW |
10 |
53,784,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R9629:Man1a
|
UTSW |
10 |
53,796,158 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Man1a
|
UTSW |
10 |
53,795,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-06-21 |