Incidental Mutation 'IGL02851:Man1a'
| ID |
361869 |
| 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: 0.825)
|
| Stock # |
IGL02851
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
53780881-53952705 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 53795340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 638
(R638W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003843]
[ENSMUST00000105470]
[ENSMUST00000218317]
[ENSMUST00000220088]
|
| AlphaFold |
P45700 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003843
AA Change: R547W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003843
Gene: ENSMUSG00000003746
AA Change: R547W
| 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 damaging
Transcript: ENSMUST00000105470
AA Change: R547W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101110
Gene: ENSMUSG00000003746
AA Change: R547W
| 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 damaging
Transcript: ENSMUST00000220088
AA Change: R638W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt1 |
T |
C |
12: 112,623,518 (GRCm39) |
E314G |
probably damaging |
Het |
| Amtn |
C |
A |
5: 88,529,481 (GRCm39) |
Q106K |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,916,184 (GRCm39) |
F1700S |
probably damaging |
Het |
| Brdt |
T |
C |
5: 107,525,861 (GRCm39) |
S905P |
possibly damaging |
Het |
| Ccdc68 |
C |
T |
18: 70,080,236 (GRCm39) |
Q194* |
probably null |
Het |
| Cdc27 |
A |
G |
11: 104,417,807 (GRCm39) |
|
probably benign |
Het |
| Cdh13 |
A |
G |
8: 119,401,897 (GRCm39) |
T100A |
probably benign |
Het |
| Cdsn |
A |
G |
17: 35,866,791 (GRCm39) |
H440R |
possibly damaging |
Het |
| Cenpf |
C |
A |
1: 189,390,227 (GRCm39) |
D1202Y |
probably damaging |
Het |
| Chat |
C |
A |
14: 32,180,570 (GRCm39) |
V21L |
probably benign |
Het |
| Clca4c-ps |
T |
A |
3: 144,585,493 (GRCm39) |
|
noncoding transcript |
Het |
| Cst9 |
A |
G |
2: 148,677,203 (GRCm39) |
I25V |
probably benign |
Het |
| Dennd1b |
C |
A |
1: 139,096,705 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,928,570 (GRCm39) |
|
probably benign |
Het |
| Dpp3 |
T |
G |
19: 4,973,159 (GRCm39) |
Q145P |
probably benign |
Het |
| Elovl5 |
C |
T |
9: 77,888,784 (GRCm39) |
T217M |
probably damaging |
Het |
| Etl4 |
T |
C |
2: 20,812,840 (GRCm39) |
V906A |
possibly damaging |
Het |
| Gm10647 |
C |
T |
9: 66,705,543 (GRCm39) |
|
probably benign |
Het |
| Grm5 |
A |
G |
7: 87,723,918 (GRCm39) |
N736S |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,814,423 (GRCm39) |
S1638P |
possibly damaging |
Het |
| Hsd3b2 |
T |
G |
3: 98,623,740 (GRCm39) |
E46A |
possibly damaging |
Het |
| Igkv15-103 |
A |
G |
6: 68,414,674 (GRCm39) |
T38A |
probably benign |
Het |
| Itpr2 |
C |
A |
6: 146,287,477 (GRCm39) |
V450L |
probably damaging |
Het |
| Kbtbd12 |
T |
C |
6: 88,595,311 (GRCm39) |
H173R |
probably benign |
Het |
| Mterf2 |
A |
T |
10: 84,955,878 (GRCm39) |
S249T |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,234,627 (GRCm39) |
D700G |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,239,742 (GRCm39) |
H764R |
possibly damaging |
Het |
| Myh7b |
A |
G |
2: 155,470,747 (GRCm39) |
D1065G |
probably damaging |
Het |
| Naip1 |
C |
A |
13: 100,569,770 (GRCm39) |
W288L |
probably damaging |
Het |
| Naip6 |
C |
A |
13: 100,437,168 (GRCm39) |
A452S |
probably benign |
Het |
| Nop2 |
A |
C |
6: 125,121,048 (GRCm39) |
K610T |
possibly damaging |
Het |
| Nop2 |
G |
T |
6: 125,121,033 (GRCm39) |
G605V |
probably benign |
Het |
| Npvf |
G |
A |
6: 50,629,670 (GRCm39) |
R107W |
probably benign |
Het |
| Or10h28 |
T |
A |
17: 33,488,328 (GRCm39) |
I210K |
probably benign |
Het |
| Or2h2 |
T |
C |
17: 37,397,048 (GRCm39) |
|
probably null |
Het |
| Os9 |
G |
A |
10: 126,935,262 (GRCm39) |
|
probably benign |
Het |
| Parp4 |
T |
C |
14: 56,886,326 (GRCm39) |
S1802P |
unknown |
Het |
| Piezo2 |
G |
A |
18: 63,153,704 (GRCm39) |
S2547F |
probably benign |
Het |
| Plekha7 |
G |
T |
7: 115,734,413 (GRCm39) |
A1024E |
probably damaging |
Het |
| R3hdm1 |
T |
C |
1: 128,102,677 (GRCm39) |
|
probably benign |
Het |
| Robo4 |
T |
C |
9: 37,324,678 (GRCm39) |
S1022P |
probably damaging |
Het |
| Sc5d |
T |
C |
9: 42,166,690 (GRCm39) |
N283S |
probably benign |
Het |
| Scn10a |
C |
T |
9: 119,500,674 (GRCm39) |
V202M |
probably damaging |
Het |
| Slco1a8 |
C |
T |
6: 141,949,197 (GRCm39) |
G60R |
probably damaging |
Het |
| Spag16 |
T |
C |
1: 70,304,067 (GRCm39) |
I366T |
possibly damaging |
Het |
| Sptbn4 |
G |
A |
7: 27,126,258 (GRCm39) |
R222C |
possibly damaging |
Het |
| Tlr9 |
C |
T |
9: 106,101,929 (GRCm39) |
Q407* |
probably null |
Het |
| Trappc12 |
G |
A |
12: 28,741,405 (GRCm39) |
S768L |
probably damaging |
Het |
| Vmn2r44 |
A |
T |
7: 8,386,050 (GRCm39) |
L63Q |
probably damaging |
Het |
| Zfy2 |
C |
T |
Y: 2,106,894 (GRCm39) |
G580D |
probably benign |
Het |
| Zfy2 |
T |
A |
Y: 2,117,188 (GRCm39) |
H213L |
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 |
|
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 |
2015-12-18 |
Incidental Mutation