Incidental Mutation 'IGL02395:Man1a2'
ID |
294321 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Man1a2
|
Ensembl Gene |
ENSMUSG00000008763 |
Gene Name |
mannosidase, alpha, class 1A, member 2 |
Synonyms |
Man1b |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02395
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
100469519-100592789 bp(-) (GRCm39) |
Type of Mutation |
splice site (4 bp from exon) |
DNA Base Change (assembly) |
T to C
at 100551853 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000008907
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008907]
[ENSMUST00000130066]
[ENSMUST00000196250]
|
AlphaFold |
P39098 |
Predicted Effect |
probably null
Transcript: ENSMUST00000008907
|
SMART Domains |
Protein: ENSMUSP00000008907 Gene: ENSMUSG00000008763
Domain | Start | End | E-Value | Type |
transmembrane domain
|
37 |
56 |
N/A |
INTRINSIC |
coiled coil region
|
101 |
153 |
N/A |
INTRINSIC |
low complexity region
|
155 |
170 |
N/A |
INTRINSIC |
Pfam:Glyco_hydro_47
|
187 |
626 |
2.8e-156 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130066
|
SMART Domains |
Protein: ENSMUSP00000116489 Gene: ENSMUSG00000008763
Domain | Start | End | E-Value | Type |
coiled coil region
|
18 |
70 |
N/A |
INTRINSIC |
low complexity region
|
72 |
87 |
N/A |
INTRINSIC |
Pfam:Glyco_hydro_47
|
104 |
179 |
1.2e-23 |
PFAM |
Pfam:Glyco_hydro_47
|
174 |
246 |
1.1e-18 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133642
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196250
|
SMART Domains |
Protein: ENSMUSP00000143695 Gene: ENSMUSG00000008763
Domain | Start | End | E-Value | Type |
transmembrane domain
|
38 |
57 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha-mannosidases function at different stages of N-glycan maturation in mammalian cells. See MAN2A1 (MIM 154582) for general information.[supplied by OMIM, Mar 2008] PHENOTYPE: Homozygous mutation of this gene results in respiratory distress and death within a few hours after birth. Lung development is delayed, the alveolar septum is thickened, and hemorrhage occurs in the alveolar region. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
T |
A |
13: 119,617,496 (GRCm39) |
C540S |
probably damaging |
Het |
Cdk5 |
A |
G |
5: 24,624,635 (GRCm39) |
V252A |
possibly damaging |
Het |
Ddi2 |
C |
T |
4: 141,422,725 (GRCm39) |
R329Q |
possibly damaging |
Het |
Dennd2c |
T |
A |
3: 103,065,081 (GRCm39) |
F678I |
probably benign |
Het |
Ect2 |
T |
C |
3: 27,204,255 (GRCm39) |
D18G |
probably damaging |
Het |
Efcab11 |
C |
A |
12: 99,820,868 (GRCm39) |
|
probably null |
Het |
Eri2 |
T |
C |
7: 119,387,033 (GRCm39) |
E162G |
probably damaging |
Het |
Fam120b |
T |
C |
17: 15,622,777 (GRCm39) |
S252P |
probably damaging |
Het |
Filip1 |
G |
A |
9: 79,805,692 (GRCm39) |
P21S |
probably benign |
Het |
Kmt5b |
T |
A |
19: 3,864,887 (GRCm39) |
D627E |
probably benign |
Het |
Krt87 |
T |
C |
15: 101,385,833 (GRCm39) |
D254G |
probably benign |
Het |
Mapk15 |
T |
C |
15: 75,870,019 (GRCm39) |
S380P |
probably benign |
Het |
Mrpl48 |
G |
T |
7: 100,195,551 (GRCm39) |
|
probably benign |
Het |
Nme8 |
T |
A |
13: 19,862,078 (GRCm39) |
I184L |
possibly damaging |
Het |
Nrk |
A |
G |
X: 137,876,935 (GRCm39) |
E712G |
probably damaging |
Het |
Or4c110 |
T |
A |
2: 88,832,507 (GRCm39) |
T42S |
probably benign |
Het |
Or4k6 |
C |
A |
14: 50,475,886 (GRCm39) |
G152V |
probably damaging |
Het |
Or5m5 |
A |
G |
2: 85,814,426 (GRCm39) |
T81A |
possibly damaging |
Het |
Or6z6 |
C |
T |
7: 6,491,802 (GRCm39) |
V17M |
possibly damaging |
Het |
Plekho1 |
A |
T |
3: 95,902,876 (GRCm39) |
Y36* |
probably null |
Het |
Slco1a5 |
T |
A |
6: 142,221,213 (GRCm39) |
H11L |
probably damaging |
Het |
Tiam2 |
T |
A |
17: 3,471,756 (GRCm39) |
M466K |
possibly damaging |
Het |
Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
Tnfrsf22 |
A |
T |
7: 143,197,053 (GRCm39) |
N95K |
probably damaging |
Het |
Vmn1r90 |
T |
C |
7: 14,295,822 (GRCm39) |
Y92C |
probably damaging |
Het |
Zc2hc1a |
T |
A |
3: 7,593,684 (GRCm39) |
L214* |
probably null |
Het |
Zcchc17 |
C |
A |
4: 130,230,920 (GRCm39) |
V90F |
probably damaging |
Het |
Zcchc7 |
T |
C |
4: 44,761,868 (GRCm39) |
|
probably benign |
Het |
Zmiz1 |
T |
C |
14: 25,657,187 (GRCm39) |
V821A |
probably damaging |
Het |
|
Other mutations in Man1a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01987:Man1a2
|
APN |
3 |
100,551,873 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02009:Man1a2
|
APN |
3 |
100,591,978 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02097:Man1a2
|
APN |
3 |
100,489,447 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL02441:Man1a2
|
APN |
3 |
100,499,189 (GRCm39) |
missense |
probably benign |
0.01 |
R0043:Man1a2
|
UTSW |
3 |
100,495,196 (GRCm39) |
missense |
probably damaging |
1.00 |
R0064:Man1a2
|
UTSW |
3 |
100,499,199 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0217:Man1a2
|
UTSW |
3 |
100,524,353 (GRCm39) |
missense |
possibly damaging |
0.61 |
R0266:Man1a2
|
UTSW |
3 |
100,489,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R0284:Man1a2
|
UTSW |
3 |
100,592,102 (GRCm39) |
missense |
probably damaging |
0.98 |
R0633:Man1a2
|
UTSW |
3 |
100,591,891 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1074:Man1a2
|
UTSW |
3 |
100,563,402 (GRCm39) |
missense |
possibly damaging |
0.68 |
R2167:Man1a2
|
UTSW |
3 |
100,499,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R2177:Man1a2
|
UTSW |
3 |
100,539,847 (GRCm39) |
missense |
probably damaging |
1.00 |
R3822:Man1a2
|
UTSW |
3 |
100,539,913 (GRCm39) |
missense |
possibly damaging |
0.48 |
R4361:Man1a2
|
UTSW |
3 |
100,563,358 (GRCm39) |
missense |
probably benign |
|
R4652:Man1a2
|
UTSW |
3 |
100,539,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R4871:Man1a2
|
UTSW |
3 |
100,524,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R5153:Man1a2
|
UTSW |
3 |
100,563,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R5182:Man1a2
|
UTSW |
3 |
100,554,333 (GRCm39) |
missense |
probably damaging |
0.99 |
R5201:Man1a2
|
UTSW |
3 |
100,524,328 (GRCm39) |
missense |
probably benign |
|
R5251:Man1a2
|
UTSW |
3 |
100,527,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R6135:Man1a2
|
UTSW |
3 |
100,592,248 (GRCm39) |
start gained |
probably benign |
|
R6793:Man1a2
|
UTSW |
3 |
100,539,913 (GRCm39) |
missense |
possibly damaging |
0.48 |
R6886:Man1a2
|
UTSW |
3 |
100,563,387 (GRCm39) |
missense |
probably benign |
0.00 |
R7209:Man1a2
|
UTSW |
3 |
100,554,395 (GRCm39) |
missense |
unknown |
|
R7224:Man1a2
|
UTSW |
3 |
100,489,369 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7308:Man1a2
|
UTSW |
3 |
100,527,421 (GRCm39) |
missense |
probably damaging |
1.00 |
R7815:Man1a2
|
UTSW |
3 |
100,563,495 (GRCm39) |
missense |
probably damaging |
0.99 |
R7826:Man1a2
|
UTSW |
3 |
100,489,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R8427:Man1a2
|
UTSW |
3 |
100,592,001 (GRCm39) |
missense |
probably benign |
0.18 |
R9621:Man1a2
|
UTSW |
3 |
100,591,961 (GRCm39) |
missense |
probably benign |
0.03 |
|
Posted On |
2015-04-16 |