Incidental Mutation 'IGL02929:Man1a'
ID |
364019 |
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 # |
IGL02929
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
53780881-53952705 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 53801531 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 443
(V443I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101110
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003843]
[ENSMUST00000105470]
[ENSMUST00000218317]
[ENSMUST00000220088]
|
AlphaFold |
P45700 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003843
AA Change: V443I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000003843 Gene: ENSMUSG00000003746 AA Change: V443I
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
AA Change: V443I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000101110 Gene: ENSMUSG00000003746 AA Change: V443I
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 |
probably benign
Transcript: ENSMUST00000218317
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219234
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220088
AA Change: V534I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
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 |
A330070K13Rik |
A |
G |
5: 130,413,252 (GRCm39) |
|
probably null |
Het |
Abcb5 |
T |
C |
12: 118,908,674 (GRCm39) |
Y90C |
probably damaging |
Het |
Accs |
T |
C |
2: 93,674,566 (GRCm39) |
D112G |
probably damaging |
Het |
Adam32 |
C |
A |
8: 25,362,659 (GRCm39) |
V13L |
possibly damaging |
Het |
Adgrb3 |
A |
G |
1: 25,592,905 (GRCm39) |
V294A |
probably benign |
Het |
Agt |
G |
T |
8: 125,283,829 (GRCm39) |
A430E |
probably benign |
Het |
Agxt2 |
T |
C |
15: 10,388,379 (GRCm39) |
|
probably benign |
Het |
Atp2a1 |
A |
T |
7: 126,056,116 (GRCm39) |
I235N |
probably damaging |
Het |
Atp8b1 |
T |
C |
18: 64,694,733 (GRCm39) |
I516M |
possibly damaging |
Het |
Atrx |
T |
C |
X: 104,923,512 (GRCm39) |
|
probably null |
Het |
Brcc3 |
T |
C |
X: 74,479,105 (GRCm39) |
V117A |
possibly damaging |
Het |
Casp8ap2 |
T |
C |
4: 32,624,105 (GRCm39) |
|
probably benign |
Het |
Ceacam3 |
T |
A |
7: 16,892,115 (GRCm39) |
V286D |
probably damaging |
Het |
Cpb1 |
T |
C |
3: 20,329,630 (GRCm39) |
D32G |
probably benign |
Het |
Cpsf1 |
C |
A |
15: 76,486,327 (GRCm39) |
|
probably null |
Het |
Dnai4 |
C |
T |
4: 102,917,188 (GRCm39) |
W552* |
probably null |
Het |
Dock2 |
A |
T |
11: 34,218,048 (GRCm39) |
V1174E |
probably damaging |
Het |
Dqx1 |
A |
G |
6: 83,037,465 (GRCm39) |
|
probably benign |
Het |
Ercc1 |
T |
C |
7: 19,089,288 (GRCm39) |
|
probably null |
Het |
Fn1 |
A |
G |
1: 71,634,821 (GRCm39) |
|
probably null |
Het |
Garre1 |
A |
T |
7: 33,944,507 (GRCm39) |
M75K |
possibly damaging |
Het |
Ice1 |
A |
G |
13: 70,744,322 (GRCm39) |
L2087P |
probably damaging |
Het |
Ift122 |
A |
G |
6: 115,879,838 (GRCm39) |
D612G |
probably damaging |
Het |
Igkv6-25 |
A |
G |
6: 70,192,929 (GRCm39) |
Y112C |
probably damaging |
Het |
Kit |
C |
A |
5: 75,801,429 (GRCm39) |
P572Q |
probably damaging |
Het |
Kras |
A |
G |
6: 145,177,815 (GRCm39) |
|
probably benign |
Het |
Ltv1 |
T |
C |
10: 13,067,970 (GRCm39) |
K6R |
possibly damaging |
Het |
Mat2b |
A |
C |
11: 40,575,540 (GRCm39) |
D154E |
probably benign |
Het |
Mtrf1 |
A |
G |
14: 79,640,273 (GRCm39) |
K143E |
probably benign |
Het |
Myh13 |
A |
C |
11: 67,257,991 (GRCm39) |
I95L |
probably damaging |
Het |
Myo7b |
A |
T |
18: 32,127,978 (GRCm39) |
D571E |
probably benign |
Het |
Nek10 |
T |
A |
14: 14,821,119 (GRCm38) |
D28E |
possibly damaging |
Het |
Npm2 |
T |
A |
14: 70,889,678 (GRCm39) |
|
probably null |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Plcb2 |
G |
A |
2: 118,543,715 (GRCm39) |
|
probably benign |
Het |
Ppp1r3a |
A |
G |
6: 14,719,810 (GRCm39) |
M368T |
probably benign |
Het |
Rnf123 |
G |
T |
9: 107,946,275 (GRCm39) |
T300K |
probably benign |
Het |
Sbspon |
A |
G |
1: 15,954,069 (GRCm39) |
|
probably benign |
Het |
Slc52a2 |
G |
A |
15: 76,424,776 (GRCm39) |
C338Y |
probably benign |
Het |
Tdrd6 |
T |
A |
17: 43,940,604 (GRCm39) |
Q148L |
possibly damaging |
Het |
Tle5 |
T |
A |
10: 81,400,672 (GRCm39) |
|
probably null |
Het |
Trpc3 |
T |
A |
3: 36,692,623 (GRCm39) |
K790* |
probably null |
Het |
Ushbp1 |
C |
T |
8: 71,847,120 (GRCm39) |
A171T |
probably damaging |
Het |
Usp32 |
T |
C |
11: 84,879,198 (GRCm39) |
T1504A |
probably benign |
Het |
|
Other mutations in Man1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01111:Man1a
|
APN |
10 |
53,853,109 (GRCm39) |
splice site |
probably benign |
|
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 |
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 |
2015-12-18 |