Incidental Mutation 'R5251:Man1a2'
| ID |
399019 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Man1a2
|
| Ensembl Gene |
ENSMUSG00000008763 |
| Gene Name |
mannosidase, alpha, class 1A, member 2 |
| Synonyms |
Man1b |
| MMRRC Submission |
042822-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5251 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
100469519-100592789 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100527415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 225
(E225G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116489
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008907]
[ENSMUST00000130066]
|
| AlphaFold |
P39098 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000008907
AA Change: E335G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000008907
Gene: ENSMUSG00000008763
AA Change: E335G
| 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 damaging
Transcript: ENSMUST00000130066
AA Change: E225G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116489
Gene: ENSMUSG00000008763
AA Change: E225G
| 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 |
noncoding transcript
Transcript: ENSMUST00000199953
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.9%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1 |
A |
T |
5: 36,108,236 (GRCm39) |
E194V |
probably damaging |
Het |
| Ankrd16 |
T |
A |
2: 11,783,552 (GRCm39) |
D51E |
probably damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,249,815 (GRCm39) |
T189A |
possibly damaging |
Het |
| Camk4 |
A |
G |
18: 33,317,932 (GRCm39) |
D363G |
probably benign |
Het |
| Camta1 |
A |
G |
4: 151,248,341 (GRCm39) |
I199T |
probably damaging |
Het |
| Ccdc141 |
C |
T |
2: 76,858,118 (GRCm39) |
C1021Y |
probably damaging |
Het |
| Cdc34 |
C |
T |
10: 79,521,090 (GRCm39) |
S129L |
probably damaging |
Het |
| Cenph |
T |
A |
13: 100,898,348 (GRCm39) |
N185I |
possibly damaging |
Het |
| Colq |
A |
G |
14: 31,261,776 (GRCm39) |
|
probably null |
Het |
| Dph2 |
A |
T |
4: 117,747,543 (GRCm39) |
D280E |
probably damaging |
Het |
| Exosc5 |
A |
G |
7: 25,367,180 (GRCm39) |
Y224C |
probably damaging |
Het |
| Fgfr3 |
C |
T |
5: 33,892,900 (GRCm39) |
|
probably benign |
Het |
| Hs3st6 |
T |
A |
17: 24,976,959 (GRCm39) |
D146E |
probably benign |
Het |
| Igkv13-84 |
A |
T |
6: 68,916,772 (GRCm39) |
Q23L |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,343,760 (GRCm39) |
V2154A |
probably benign |
Het |
| Mertk |
T |
C |
2: 128,571,375 (GRCm39) |
S110P |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,689,114 (GRCm39) |
F388L |
probably damaging |
Het |
| Nme8 |
T |
C |
13: 19,844,795 (GRCm39) |
N98S |
probably benign |
Het |
| Nup205 |
A |
G |
6: 35,173,417 (GRCm39) |
|
probably null |
Het |
| Prl7d1 |
T |
C |
13: 27,893,227 (GRCm39) |
N228S |
probably benign |
Het |
| Prss23 |
T |
C |
7: 89,159,530 (GRCm39) |
K180E |
probably damaging |
Het |
| Psap |
G |
A |
10: 60,137,479 (GRCm39) |
D549N |
probably damaging |
Het |
| Sec16a |
A |
G |
2: 26,329,357 (GRCm39) |
V886A |
probably benign |
Het |
| Sh2d1b2 |
A |
T |
1: 170,077,642 (GRCm39) |
E81D |
probably benign |
Het |
| Tbx6 |
A |
T |
7: 126,382,516 (GRCm39) |
N254I |
probably damaging |
Het |
| Tchhl1 |
T |
C |
3: 93,377,860 (GRCm39) |
V188A |
possibly damaging |
Het |
| Trpc3 |
A |
T |
3: 36,725,103 (GRCm39) |
L291Q |
probably damaging |
Het |
| Zbtb38 |
G |
T |
9: 96,569,161 (GRCm39) |
T641N |
probably benign |
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 |
|
IGL02395:Man1a2
|
APN |
3 |
100,551,853 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAGACTGTCTTAAACTATCCAGCA -3'
(R):5'- GTGCTTTGCCTATAAGAGGGA -3'
Sequencing Primer
(F):5'- GTCTTAGCACGCTGGCTAC -3'
(R):5'- TTAAAGGCGTGTGTCACCAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation