Incidental Mutation 'R1219:Man1a'
| ID |
99935 |
| 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 |
039288-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.825)
|
| Stock # |
R1219 (G1)
|
| Quality Score |
207 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
53780881-53952705 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 53795249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003843]
[ENSMUST00000105470]
[ENSMUST00000218317]
[ENSMUST00000220088]
|
| AlphaFold |
P45700 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003843
|
| SMART Domains |
Protein: ENSMUSP00000003843
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 |
642 |
4.6e-150 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105470
|
| SMART Domains |
Protein: ENSMUSP00000101110
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 |
642 |
4.5e-153 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218317
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219234
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220088
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
98% (44/45) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atad2 |
A |
G |
15: 57,998,307 (GRCm39) |
S22P |
probably benign |
Het |
| Atrn |
A |
T |
2: 130,862,927 (GRCm39) |
T1336S |
possibly damaging |
Het |
| Bltp1 |
T |
A |
3: 37,000,619 (GRCm39) |
L1266* |
probably null |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Ccdc113 |
T |
C |
8: 96,264,895 (GRCm39) |
|
probably benign |
Het |
| Ccdc158 |
A |
G |
5: 92,802,040 (GRCm39) |
|
probably benign |
Het |
| Ciao3 |
T |
C |
17: 25,994,075 (GRCm39) |
I41T |
probably damaging |
Het |
| Dcun1d3 |
G |
T |
7: 119,458,631 (GRCm39) |
Q135K |
probably damaging |
Het |
| Dnah7b |
A |
C |
1: 46,379,280 (GRCm39) |
E3671D |
probably benign |
Het |
| Eea1 |
A |
G |
10: 95,846,623 (GRCm39) |
|
probably benign |
Het |
| Entrep3 |
T |
C |
3: 89,091,155 (GRCm39) |
V42A |
probably damaging |
Het |
| Gdf10 |
G |
A |
14: 33,654,710 (GRCm39) |
A406T |
probably benign |
Het |
| Gm5111 |
A |
G |
6: 48,567,328 (GRCm39) |
|
probably benign |
Het |
| Golga3 |
G |
T |
5: 110,332,215 (GRCm39) |
E50* |
probably null |
Het |
| Junb |
T |
C |
8: 85,704,268 (GRCm39) |
E264G |
probably damaging |
Het |
| Kash5 |
A |
G |
7: 44,838,832 (GRCm39) |
|
probably benign |
Het |
| Kifc1 |
G |
A |
17: 34,103,685 (GRCm39) |
R195C |
probably benign |
Het |
| Krt18 |
T |
C |
15: 101,939,723 (GRCm39) |
|
probably benign |
Het |
| Mapkbp1 |
G |
T |
2: 119,849,831 (GRCm39) |
G768* |
probably null |
Het |
| Mybpc2 |
A |
C |
7: 44,165,458 (GRCm39) |
|
probably null |
Het |
| Nectin3 |
A |
T |
16: 46,275,042 (GRCm39) |
C238* |
probably null |
Het |
| Ntf3 |
G |
T |
6: 126,079,174 (GRCm39) |
R98S |
possibly damaging |
Het |
| Nup153 |
T |
G |
13: 46,840,695 (GRCm39) |
Q971P |
probably benign |
Het |
| Nup155 |
A |
G |
15: 8,146,822 (GRCm39) |
T221A |
possibly damaging |
Het |
| Ppp2r1b |
T |
C |
9: 50,778,621 (GRCm39) |
|
probably benign |
Het |
| Prkd1 |
A |
T |
12: 50,435,125 (GRCm39) |
V534E |
probably damaging |
Het |
| Rabep2 |
A |
G |
7: 126,028,799 (GRCm39) |
E26G |
probably damaging |
Het |
| Rnf213 |
C |
A |
11: 119,327,003 (GRCm39) |
N1663K |
probably damaging |
Het |
| Slc1a1 |
G |
A |
19: 28,882,146 (GRCm39) |
|
probably benign |
Het |
| Slc36a4 |
T |
C |
9: 15,634,832 (GRCm39) |
Y125H |
probably damaging |
Het |
| Slc6a11 |
G |
A |
6: 114,202,772 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
C |
T |
14: 30,862,578 (GRCm39) |
|
probably null |
Het |
| Sumf2 |
G |
T |
5: 129,883,613 (GRCm39) |
A164S |
probably benign |
Het |
| Sv2b |
T |
C |
7: 74,786,160 (GRCm39) |
D420G |
probably benign |
Het |
| Ube2v1 |
T |
C |
2: 167,459,831 (GRCm39) |
D56G |
probably benign |
Het |
| Ung |
A |
G |
5: 114,270,228 (GRCm39) |
|
probably benign |
Het |
| Vcan |
T |
C |
13: 89,828,023 (GRCm39) |
Y2181C |
probably damaging |
Het |
| Vmn1r238 |
G |
A |
18: 3,123,135 (GRCm39) |
T93I |
possibly damaging |
Het |
| Vmn2r14 |
A |
C |
5: 109,372,440 (GRCm39) |
S17A |
probably benign |
Het |
| Vmn2r25 |
A |
G |
6: 123,816,282 (GRCm39) |
V433A |
probably benign |
Het |
| Zfp36l2 |
A |
G |
17: 84,495,070 (GRCm39) |
|
probably null |
Het |
| Zfp646 |
G |
A |
7: 127,482,292 (GRCm39) |
G1490S |
probably benign |
Het |
| Zfp839 |
A |
G |
12: 110,834,707 (GRCm39) |
D654G |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTAGAAGCTGTCCAGCATCCCC -3'
(R):5'- TCAAGGTCCTACCCTTGTTCAGGAG -3'
Sequencing Primer
(F):5'- GGATAACTTCATGCTGTATCATGCC -3'
(R):5'- CAGGAGGTAACCCTTGTTAACTG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation