Incidental Mutation 'R9590:Man1a'
| ID |
722974 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.818)
|
| Stock # |
R9590 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
53780881-53952705 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53784060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 607
(F607S)
|
| 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 |
probably damaging
Transcript: ENSMUST00000003843
AA Change: F607S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003843
Gene: ENSMUSG00000003746
AA Change: F607S
| 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: F607S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101110
Gene: ENSMUSG00000003746
AA Change: F607S
| 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 |
probably damaging
Transcript: ENSMUST00000220088
AA Change: F698S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
A |
G |
11: 105,876,506 (GRCm39) |
T1087A |
probably benign |
Het |
| Aopep |
A |
G |
13: 63,208,923 (GRCm39) |
T347A |
probably benign |
Het |
| Atp8b2 |
A |
T |
3: 89,865,693 (GRCm39) |
L69* |
probably null |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| C130073F10Rik |
G |
A |
4: 101,747,618 (GRCm39) |
T137I |
probably benign |
Het |
| C9orf72 |
C |
T |
4: 35,218,557 (GRCm39) |
G101R |
|
Het |
| Cacna1a |
C |
T |
8: 85,328,610 (GRCm39) |
Q1683* |
probably null |
Het |
| Calml4 |
A |
G |
9: 62,782,810 (GRCm39) |
Y139C |
probably benign |
Het |
| Cd33 |
T |
A |
7: 43,179,637 (GRCm39) |
I264F |
probably benign |
Het |
| Cfi |
A |
T |
3: 129,642,461 (GRCm39) |
H105L |
probably benign |
Het |
| Cnr1 |
G |
T |
4: 33,944,849 (GRCm39) |
M412I |
probably benign |
Het |
| Cyp2j11 |
T |
A |
4: 96,195,614 (GRCm39) |
M361L |
probably benign |
Het |
| Dnase2b |
A |
T |
3: 146,290,323 (GRCm39) |
V216D |
probably benign |
Het |
| Eif1 |
C |
T |
11: 100,210,867 (GRCm39) |
|
probably benign |
Het |
| Faap100 |
G |
A |
11: 120,269,545 (GRCm39) |
|
probably benign |
Het |
| Fkbp10 |
A |
T |
11: 100,306,785 (GRCm39) |
Q59L |
probably damaging |
Het |
| Galnt13 |
G |
T |
2: 54,747,973 (GRCm39) |
V285F |
probably benign |
Het |
| Gm32742 |
A |
G |
9: 51,050,461 (GRCm39) |
F1510S |
possibly damaging |
Het |
| Klhl33 |
T |
G |
14: 51,130,042 (GRCm39) |
D224A |
probably benign |
Het |
| Mcc |
T |
C |
18: 44,592,977 (GRCm39) |
N686S |
possibly damaging |
Het |
| Mlip |
A |
G |
9: 77,045,834 (GRCm39) |
M882T |
probably benign |
Het |
| Mmp9 |
T |
A |
2: 164,790,834 (GRCm39) |
M74K |
probably benign |
Het |
| Nek10 |
C |
A |
14: 14,853,888 (GRCm38) |
S358Y |
probably damaging |
Het |
| Or51a7 |
T |
C |
7: 102,614,553 (GRCm39) |
L82P |
probably benign |
Het |
| Or5b12b |
T |
C |
19: 12,861,980 (GRCm39) |
V245A |
probably benign |
Het |
| Or8g29-ps1 |
A |
T |
9: 39,201,076 (GRCm39) |
C37S |
unknown |
Het |
| Padi1 |
T |
C |
4: 140,544,552 (GRCm39) |
D547G |
probably damaging |
Het |
| Pcbp4 |
T |
C |
9: 106,340,400 (GRCm39) |
S332P |
possibly damaging |
Het |
| Pde2a |
A |
G |
7: 101,160,757 (GRCm39) |
I909V |
probably benign |
Het |
| Ppil6 |
T |
C |
10: 41,366,478 (GRCm39) |
M1T |
probably null |
Het |
| Proser2 |
A |
G |
2: 6,105,794 (GRCm39) |
S257P |
probably benign |
Het |
| Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,118 (GRCm39) |
|
probably benign |
Het |
| Scn9a |
A |
G |
2: 66,314,328 (GRCm39) |
F1797L |
probably benign |
Het |
| Sfmbt1 |
T |
C |
14: 30,512,727 (GRCm39) |
L360P |
probably damaging |
Het |
| Tab1 |
A |
T |
15: 80,040,097 (GRCm39) |
N306Y |
probably damaging |
Het |
| Tob2 |
A |
C |
15: 81,735,068 (GRCm39) |
F300L |
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 |
|
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 |
|
|
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'- GCAAATGCCTGCACTGAGAC -3'
(R):5'- GCAAAACATAAAGCCCATAGGTTG -3'
Sequencing Primer
(F):5'- GAGACTGCCTTGTTAATGCACCTAG -3'
(R):5'- CATAAAGCCCATAGGTTGTGTAC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation