Incidental Mutation 'R7566:Man1a'
ID |
585462 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Man1a
|
Ensembl Gene |
ENSMUSG00000003746 |
Gene Name |
mannosidase 1, alpha |
Synonyms |
PCR1, mannosyl-oligosaccharide alpha-1,2-mannosidase |
MMRRC Submission |
045628-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.825)
|
Stock # |
R7566 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
53780881-53952705 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 53795330 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 550
(V550A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003843
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003843]
[ENSMUST00000105470]
[ENSMUST00000218317]
[ENSMUST00000220088]
|
AlphaFold |
P45700 |
PDB Structure |
Structure of mouse Golgi alpha-1,2-mannosidase IA reveals the molecular basis for substrate specificity among Class I enzymes (family 47 glycosidases) [X-RAY DIFFRACTION]
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003843
AA Change: V550A
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000003843 Gene: ENSMUSG00000003746 AA Change: V550A
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 |
possibly damaging
Transcript: ENSMUST00000105470
AA Change: V550A
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000101110 Gene: ENSMUSG00000003746 AA Change: V550A
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 |
possibly damaging
Transcript: ENSMUST00000220088
AA Change: V641A
PolyPhen 2
Score 0.475 (Sensitivity: 0.89; Specificity: 0.90)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (57/57) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
T |
G |
1: 12,021,252 (GRCm39) |
S420R |
probably damaging |
Het |
Acat2 |
C |
T |
17: 13,166,346 (GRCm39) |
D219N |
probably damaging |
Het |
Anapc10 |
G |
A |
8: 80,446,308 (GRCm39) |
R46Q |
possibly damaging |
Het |
Ankub1 |
G |
A |
3: 57,573,039 (GRCm39) |
R228* |
probably null |
Het |
Arhgap21 |
T |
C |
2: 20,917,102 (GRCm39) |
N91S |
probably benign |
Het |
Arhgap32 |
T |
A |
9: 32,162,018 (GRCm39) |
V323D |
probably benign |
Het |
Bcas1 |
C |
T |
2: 170,212,369 (GRCm39) |
|
probably null |
Het |
Cd109 |
C |
T |
9: 78,588,119 (GRCm39) |
P716S |
probably damaging |
Het |
Chd4 |
C |
T |
6: 125,078,866 (GRCm39) |
P267L |
possibly damaging |
Het |
Cpne7 |
G |
T |
8: 123,860,552 (GRCm39) |
V502F |
probably damaging |
Het |
Cracd |
G |
A |
5: 77,014,122 (GRCm39) |
|
probably null |
Het |
Dlgap4 |
C |
T |
2: 156,604,657 (GRCm39) |
A921V |
probably benign |
Het |
Faap24 |
G |
T |
7: 35,092,465 (GRCm39) |
R151S |
probably benign |
Het |
Fam98a |
A |
G |
17: 75,854,657 (GRCm39) |
S51P |
probably damaging |
Het |
Fbxl8 |
A |
G |
8: 105,994,938 (GRCm39) |
D150G |
possibly damaging |
Het |
Fut10 |
A |
G |
8: 31,749,950 (GRCm39) |
K412R |
probably benign |
Het |
G0s2 |
T |
C |
1: 192,955,076 (GRCm39) |
S3G |
probably benign |
Het |
Gm1527 |
T |
C |
3: 28,974,767 (GRCm39) |
Y527H |
probably benign |
Het |
Gsdmc3 |
T |
C |
15: 63,733,510 (GRCm39) |
K227R |
possibly damaging |
Het |
Gtf2ird2 |
A |
G |
5: 134,242,848 (GRCm39) |
Y354C |
probably damaging |
Het |
Hmcn2 |
T |
A |
2: 31,344,869 (GRCm39) |
N4685K |
probably damaging |
Het |
Itgad |
A |
T |
7: 127,791,279 (GRCm39) |
Y717F |
probably benign |
Het |
Kcnh5 |
C |
T |
12: 75,161,166 (GRCm39) |
W247* |
probably null |
Het |
Kcnt1 |
C |
A |
2: 25,806,048 (GRCm39) |
S1212R |
probably benign |
Het |
Kirrel1 |
A |
G |
3: 86,995,791 (GRCm39) |
V381A |
probably damaging |
Het |
Loxl1 |
T |
A |
9: 58,219,481 (GRCm39) |
Q230L |
probably damaging |
Het |
Magi1 |
T |
C |
6: 93,655,308 (GRCm39) |
E1446G |
probably benign |
Het |
Mgat4d |
T |
C |
8: 84,084,652 (GRCm39) |
S132P |
probably damaging |
Het |
Muc16 |
T |
A |
9: 18,549,925 (GRCm39) |
H5456L |
probably benign |
Het |
Nhsl1 |
A |
G |
10: 18,391,867 (GRCm39) |
K207R |
probably damaging |
Het |
Nlrp4a |
A |
C |
7: 26,148,670 (GRCm39) |
|
probably null |
Het |
Nr6a1 |
T |
C |
2: 38,621,085 (GRCm39) |
M407V |
possibly damaging |
Het |
Or13c7b |
A |
G |
4: 43,820,711 (GRCm39) |
S217P |
probably damaging |
Het |
Or2b2b |
T |
G |
13: 21,858,737 (GRCm39) |
I126L |
possibly damaging |
Het |
Or2z2 |
G |
T |
11: 58,346,489 (GRCm39) |
F95L |
probably benign |
Het |
Or6c206 |
T |
C |
10: 129,097,469 (GRCm39) |
I213T |
probably damaging |
Het |
Ovgp1 |
A |
G |
3: 105,881,626 (GRCm39) |
|
probably benign |
Het |
Ovol3 |
G |
T |
7: 29,933,791 (GRCm39) |
F110L |
probably damaging |
Het |
Pcsk5 |
T |
C |
19: 17,549,821 (GRCm39) |
T724A |
probably benign |
Het |
Phtf2 |
G |
T |
5: 20,970,799 (GRCm39) |
T653N |
probably damaging |
Het |
Plch1 |
A |
T |
3: 63,688,663 (GRCm39) |
|
probably null |
Het |
Prkce |
A |
T |
17: 86,800,757 (GRCm39) |
E391V |
probably benign |
Het |
Prob1 |
A |
G |
18: 35,788,038 (GRCm39) |
V72A |
probably benign |
Het |
Prrc2b |
C |
A |
2: 32,084,402 (GRCm39) |
P289Q |
probably benign |
Het |
Ptbp3 |
A |
T |
4: 59,514,280 (GRCm39) |
N114K |
probably benign |
Het |
Rho |
T |
A |
6: 115,909,135 (GRCm39) |
L57H |
probably damaging |
Het |
Slc44a5 |
A |
C |
3: 153,975,626 (GRCm39) |
D679A |
probably damaging |
Het |
Slit2 |
A |
T |
5: 48,407,239 (GRCm39) |
D898V |
probably damaging |
Het |
Spag16 |
C |
T |
1: 69,909,487 (GRCm39) |
R195C |
probably damaging |
Het |
Tmprss11a |
T |
G |
5: 86,591,993 (GRCm39) |
D60A |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,565,293 (GRCm39) |
R28311S |
probably damaging |
Het |
Wfikkn1 |
T |
C |
17: 26,097,352 (GRCm39) |
D324G |
probably damaging |
Het |
Zan |
A |
C |
5: 137,410,845 (GRCm39) |
|
probably null |
Het |
Zfp945 |
A |
T |
17: 23,070,727 (GRCm39) |
C412S |
possibly 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGAGCGGAATGACCTTGATAAAG -3'
(R):5'- TCTAACTAGCCCTTAATCACACTGG -3'
Sequencing Primer
(F):5'- GTATGGAAATCTCAGAAAAGTTGCC -3'
(R):5'- AGCCCTTAATCACACTGGGGTTTC -3'
|
Posted On |
2019-10-17 |