Incidental Mutation 'R6199:Man1a'
ID |
503107 |
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 |
044339-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.818)
|
Stock # |
R6199 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
53780881-53952705 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 53890552 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 288
(V288I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151328
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003843]
[ENSMUST00000105470]
[ENSMUST00000218317]
[ENSMUST00000220088]
|
AlphaFold |
P45700 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003843
AA Change: V288I
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000003843 Gene: ENSMUSG00000003746 AA Change: V288I
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: V288I
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000101110 Gene: ENSMUSG00000003746 AA Change: V288I
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 |
possibly damaging
Transcript: ENSMUST00000218317
AA Change: V288I
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220088
AA Change: V379I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Meta Mutation Damage Score |
0.1388 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
100% (53/53) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck1 |
A |
T |
12: 88,407,887 (GRCm39) |
D206V |
possibly damaging |
Het |
Ank2 |
T |
A |
3: 126,797,655 (GRCm39) |
D685V |
probably damaging |
Het |
Baz2b |
A |
G |
2: 59,809,019 (GRCm39) |
S77P |
probably benign |
Het |
Ccdc194 |
T |
C |
8: 71,978,109 (GRCm39) |
N83D |
probably benign |
Het |
Ceacam5 |
A |
T |
7: 17,448,810 (GRCm39) |
T59S |
probably benign |
Het |
Cemip2 |
G |
A |
19: 21,822,186 (GRCm39) |
G1194S |
probably benign |
Het |
Ces1e |
A |
C |
8: 93,944,163 (GRCm39) |
F218L |
probably damaging |
Het |
Cilk1 |
T |
C |
9: 78,071,921 (GRCm39) |
V531A |
probably benign |
Het |
Cps1 |
TGTCCATTGGTC |
TGTC |
1: 67,201,774 (GRCm39) |
|
probably null |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Eftud2 |
A |
T |
11: 102,730,883 (GRCm39) |
V843E |
probably damaging |
Het |
Fuca2 |
G |
T |
10: 13,381,783 (GRCm39) |
W232L |
probably damaging |
Het |
Gdf7 |
T |
C |
12: 8,348,832 (GRCm39) |
D155G |
unknown |
Het |
Ggcx |
G |
T |
6: 72,407,122 (GRCm39) |
V753F |
possibly damaging |
Het |
Ghrhr |
A |
T |
6: 55,356,173 (GRCm39) |
T89S |
probably benign |
Het |
Gpr151 |
T |
C |
18: 42,711,619 (GRCm39) |
K353R |
probably benign |
Het |
Gpr75 |
T |
C |
11: 30,841,527 (GRCm39) |
L144P |
probably damaging |
Het |
Gsdmc2 |
A |
G |
15: 63,696,962 (GRCm39) |
I403T |
probably benign |
Het |
H2-M1 |
A |
G |
17: 36,982,059 (GRCm39) |
S181P |
probably benign |
Het |
Igsf5 |
C |
T |
16: 96,222,939 (GRCm39) |
S61L |
possibly damaging |
Het |
Insc |
A |
T |
7: 114,390,401 (GRCm39) |
|
probably null |
Het |
Izumo4 |
G |
A |
10: 80,538,707 (GRCm39) |
G53D |
probably damaging |
Het |
Ksr1 |
G |
A |
11: 78,911,267 (GRCm39) |
P693S |
possibly damaging |
Het |
Lgals4 |
G |
A |
7: 28,535,317 (GRCm39) |
R27H |
probably damaging |
Het |
Lpcat2b |
A |
G |
5: 107,581,171 (GRCm39) |
R167G |
probably benign |
Het |
Map2 |
T |
G |
1: 66,464,637 (GRCm39) |
S1676A |
probably damaging |
Het |
Mbl1 |
G |
T |
14: 40,875,572 (GRCm39) |
V9F |
unknown |
Het |
Mrgprb8 |
T |
A |
7: 48,039,051 (GRCm39) |
C241S |
probably benign |
Het |
Mrpl2 |
T |
C |
17: 46,960,012 (GRCm39) |
L227P |
probably damaging |
Het |
Mthfd1 |
T |
A |
12: 76,335,685 (GRCm39) |
V253E |
probably damaging |
Het |
Mthfd1 |
A |
G |
12: 76,350,454 (GRCm39) |
H464R |
probably damaging |
Het |
Mug2 |
T |
A |
6: 122,024,398 (GRCm39) |
M490K |
probably benign |
Het |
Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
Notch1 |
A |
G |
2: 26,359,911 (GRCm39) |
V1268A |
probably damaging |
Het |
Or6b2b |
A |
T |
1: 92,419,264 (GRCm39) |
I71N |
possibly damaging |
Het |
Or8b12c |
C |
A |
9: 37,716,177 (GRCm39) |
|
probably null |
Het |
Pgm1 |
A |
T |
4: 99,836,151 (GRCm39) |
I412F |
probably damaging |
Het |
Plaur |
A |
T |
7: 24,164,628 (GRCm39) |
Q44L |
possibly damaging |
Het |
Ppara |
T |
C |
15: 85,671,434 (GRCm39) |
Y112H |
probably damaging |
Het |
Ppm1h |
G |
A |
10: 122,756,644 (GRCm39) |
V430M |
probably damaging |
Het |
Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
Prph |
A |
G |
15: 98,954,713 (GRCm39) |
T35A |
probably benign |
Het |
Prrc2c |
C |
T |
1: 162,510,085 (GRCm39) |
G780S |
probably damaging |
Het |
Ptchd3 |
T |
A |
11: 121,721,908 (GRCm39) |
N260K |
probably benign |
Het |
Ptprz1 |
A |
G |
6: 23,002,470 (GRCm39) |
D1520G |
probably benign |
Het |
Samd9l |
T |
A |
6: 3,376,686 (GRCm39) |
I192L |
probably benign |
Het |
Slc39a10 |
T |
C |
1: 46,874,993 (GRCm39) |
D103G |
probably damaging |
Het |
Smndc1 |
G |
A |
19: 53,372,063 (GRCm39) |
T117M |
probably benign |
Het |
Tesk2 |
A |
G |
4: 116,649,367 (GRCm39) |
D159G |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Vmn2r108 |
A |
T |
17: 20,682,644 (GRCm39) |
N853K |
probably benign |
Het |
Wdfy3 |
C |
T |
5: 102,020,831 (GRCm39) |
R2491Q |
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 |
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'- TGACAATAGGAGCTGTCGGACTC -3'
(R):5'- TGTCTTGCCTATAGGTGCCC -3'
Sequencing Primer
(F):5'- CATTGGATTGGCACACATTTTGAG -3'
(R):5'- CCTGGGCAAGCACACAG -3'
|
Posted On |
2018-02-27 |