Incidental Mutation 'IGL01412:Man1a'
ID |
80092 |
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 # |
IGL01412
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
53780881-53952705 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 53950810 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 195
(V195A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151568
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003843]
[ENSMUST00000105470]
[ENSMUST00000220088]
[ENSMUST00000218317]
|
AlphaFold |
P45700 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003843
AA Change: V104A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000003843 Gene: ENSMUSG00000003746 AA Change: V104A
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 |
noncoding transcript
Transcript: ENSMUST00000105469
|
SMART Domains |
Protein: ENSMUSP00000101109 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 |
332 |
2.5e-38 |
PFAM |
coiled coil region
|
346 |
376 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105470
AA Change: V104A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000101110 Gene: ENSMUSG00000003746 AA Change: V104A
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: ENSMUST00000133330
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146483
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181899
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220088
AA Change: V195A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218317
AA Change: V104A
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030458C11Rik |
G |
A |
15: 12,815,958 (GRCm39) |
Q222* |
probably null |
Het |
Adamts2 |
A |
G |
11: 50,686,230 (GRCm39) |
E1016G |
probably benign |
Het |
Agmo |
G |
A |
12: 37,452,140 (GRCm39) |
E269K |
possibly damaging |
Het |
Agrn |
A |
T |
4: 156,255,491 (GRCm39) |
|
probably benign |
Het |
Alpk1 |
A |
T |
3: 127,473,621 (GRCm39) |
L794Q |
possibly damaging |
Het |
Asb14 |
T |
A |
14: 26,637,022 (GRCm39) |
L588H |
probably damaging |
Het |
Btbd16 |
A |
T |
7: 130,407,549 (GRCm39) |
|
probably null |
Het |
Cacna1h |
T |
C |
17: 25,610,924 (GRCm39) |
K625E |
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,150,473 (GRCm39) |
D2499G |
probably damaging |
Het |
Cdhr2 |
A |
T |
13: 54,873,707 (GRCm39) |
D687V |
probably damaging |
Het |
Cops8 |
G |
T |
1: 90,532,153 (GRCm39) |
L45F |
possibly damaging |
Het |
D130043K22Rik |
A |
G |
13: 25,071,843 (GRCm39) |
H929R |
probably damaging |
Het |
Dnah12 |
A |
G |
14: 26,492,962 (GRCm39) |
E1241G |
probably damaging |
Het |
Dock4 |
T |
A |
12: 40,780,040 (GRCm39) |
|
probably benign |
Het |
Dsg1c |
A |
G |
18: 20,380,518 (GRCm39) |
I8V |
probably benign |
Het |
Dst |
T |
C |
1: 34,281,701 (GRCm39) |
V5435A |
probably benign |
Het |
Fat4 |
A |
G |
3: 38,945,330 (GRCm39) |
I1408V |
probably benign |
Het |
Fhit |
G |
T |
14: 9,870,065 (GRCm38) |
H72N |
probably damaging |
Het |
Foxp2 |
C |
A |
6: 15,376,757 (GRCm39) |
|
probably benign |
Het |
Fpgt |
T |
C |
3: 154,792,359 (GRCm39) |
Q556R |
probably benign |
Het |
Galntl6 |
T |
A |
8: 58,230,328 (GRCm39) |
E30V |
probably damaging |
Het |
Gemin4 |
A |
T |
11: 76,104,311 (GRCm39) |
V150D |
probably benign |
Het |
Grm8 |
C |
T |
6: 27,762,460 (GRCm39) |
R255H |
probably damaging |
Het |
Hapln3 |
G |
A |
7: 78,767,184 (GRCm39) |
|
probably null |
Het |
Htt |
T |
A |
5: 35,055,916 (GRCm39) |
L2609Q |
probably damaging |
Het |
Igdcc4 |
A |
G |
9: 65,021,731 (GRCm39) |
|
probably benign |
Het |
Isx |
T |
C |
8: 75,619,306 (GRCm39) |
L166P |
probably benign |
Het |
Kcnt2 |
G |
A |
1: 140,498,155 (GRCm39) |
M884I |
probably benign |
Het |
Leo1 |
A |
G |
9: 75,373,524 (GRCm39) |
N650D |
probably benign |
Het |
Map2k5 |
A |
T |
9: 63,200,988 (GRCm39) |
I215N |
probably damaging |
Het |
Mier2 |
A |
G |
10: 79,377,014 (GRCm39) |
*542R |
probably null |
Het |
Mrgbp |
T |
A |
2: 180,225,209 (GRCm39) |
F55Y |
probably damaging |
Het |
Nadsyn1 |
A |
T |
7: 143,362,527 (GRCm39) |
|
probably null |
Het |
Nedd9 |
A |
T |
13: 41,469,262 (GRCm39) |
Y630* |
probably null |
Het |
Nrp1 |
T |
C |
8: 129,145,188 (GRCm39) |
|
probably benign |
Het |
Or4k15b |
A |
G |
14: 50,272,770 (GRCm39) |
I30T |
probably benign |
Het |
Or51q1c |
T |
A |
7: 103,652,842 (GRCm39) |
M120K |
probably damaging |
Het |
Or52z12 |
A |
G |
7: 103,234,114 (GRCm39) |
N295S |
probably damaging |
Het |
Or5w17 |
A |
T |
2: 87,583,461 (GRCm39) |
L292Q |
probably damaging |
Het |
Or7g21 |
T |
A |
9: 19,032,895 (GRCm39) |
C212S |
probably benign |
Het |
Pcnx1 |
A |
T |
12: 81,953,239 (GRCm39) |
I127F |
probably damaging |
Het |
Pik3ap1 |
T |
C |
19: 41,364,329 (GRCm39) |
E130G |
possibly damaging |
Het |
Pkd1l1 |
G |
T |
11: 8,900,409 (GRCm39) |
T44N |
possibly damaging |
Het |
Polr1c |
A |
G |
17: 46,555,135 (GRCm39) |
S226P |
probably damaging |
Het |
Pramel28 |
A |
C |
4: 143,691,565 (GRCm39) |
V386G |
probably damaging |
Het |
Prep |
A |
G |
10: 45,029,208 (GRCm39) |
Y536C |
probably damaging |
Het |
Ptprb |
A |
G |
10: 116,179,820 (GRCm39) |
T1413A |
probably benign |
Het |
Pwwp3a |
T |
A |
10: 80,070,163 (GRCm39) |
|
probably null |
Het |
Ryr2 |
T |
A |
13: 11,756,922 (GRCm39) |
K1577N |
probably benign |
Het |
Selplg |
G |
T |
5: 113,957,529 (GRCm39) |
T33K |
probably damaging |
Het |
Slc26a5 |
T |
A |
5: 22,020,734 (GRCm39) |
I505L |
probably damaging |
Het |
Slc39a6 |
T |
C |
18: 24,718,413 (GRCm39) |
N548S |
probably damaging |
Het |
Sp7 |
T |
C |
15: 102,267,798 (GRCm39) |
T3A |
possibly damaging |
Het |
Tango6 |
T |
C |
8: 107,545,131 (GRCm39) |
V998A |
probably benign |
Het |
Tas2r130 |
A |
T |
6: 131,607,473 (GRCm39) |
Y107* |
probably null |
Het |
Tjp2 |
T |
C |
19: 24,078,139 (GRCm39) |
E918G |
probably damaging |
Het |
Trim12a |
C |
T |
7: 103,956,202 (GRCm39) |
A113T |
probably benign |
Het |
Zan |
T |
A |
5: 137,391,294 (GRCm39) |
D4730V |
unknown |
Het |
Zfp607a |
A |
T |
7: 27,578,109 (GRCm39) |
D393V |
probably damaging |
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 |
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 |
2013-11-05 |