Incidental Mutation 'R5201:Man1a2'
| ID |
400765 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Man1a2
|
| Ensembl Gene |
ENSMUSG00000008763 |
| Gene Name |
mannosidase, alpha, class 1A, member 2 |
| Synonyms |
Man1b |
| MMRRC Submission |
042776-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5201 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
100469519-100592789 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100524328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 373
(N373K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008907
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008907]
[ENSMUST00000130066]
|
| AlphaFold |
P39098 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008907
AA Change: N373K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000008907
Gene: ENSMUSG00000008763
AA Change: N373K
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
C |
A |
15: 81,946,745 (GRCm39) |
T214N |
probably benign |
Het |
| Actn4 |
A |
T |
7: 28,615,680 (GRCm39) |
|
probably null |
Het |
| Arap2 |
T |
C |
5: 62,840,832 (GRCm39) |
E678G |
probably damaging |
Het |
| Atl2 |
T |
C |
17: 80,172,580 (GRCm39) |
N130S |
probably benign |
Het |
| Cby2 |
A |
G |
14: 75,821,449 (GRCm39) |
V101A |
probably damaging |
Het |
| Cyp2b10 |
A |
G |
7: 25,616,419 (GRCm39) |
D342G |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,172,715 (GRCm39) |
Y248H |
possibly damaging |
Het |
| Drd5 |
A |
T |
5: 38,477,366 (GRCm39) |
M120L |
probably damaging |
Het |
| Duox1 |
A |
G |
2: 122,158,403 (GRCm39) |
R629G |
probably benign |
Het |
| Dyrk1b |
A |
G |
7: 27,884,521 (GRCm39) |
Y279C |
probably damaging |
Het |
| Efemp1 |
A |
T |
11: 28,864,590 (GRCm39) |
I215L |
probably benign |
Het |
| Enpp6 |
C |
A |
8: 47,518,486 (GRCm39) |
Q205K |
probably damaging |
Het |
| Fam170a |
A |
T |
18: 50,415,193 (GRCm39) |
T280S |
probably benign |
Het |
| Fam222a |
G |
A |
5: 114,749,127 (GRCm39) |
A108T |
possibly damaging |
Het |
| Fgd3 |
G |
T |
13: 49,449,854 (GRCm39) |
P132T |
probably benign |
Het |
| Fzr1 |
A |
T |
10: 81,203,362 (GRCm39) |
L399H |
probably damaging |
Het |
| Galnt15 |
G |
A |
14: 31,771,822 (GRCm39) |
R289Q |
probably damaging |
Het |
| Hira |
T |
C |
16: 18,770,865 (GRCm39) |
V834A |
probably damaging |
Het |
| Ilf3 |
T |
C |
9: 21,300,679 (GRCm39) |
L93P |
probably damaging |
Het |
| Itgae |
G |
A |
11: 73,001,382 (GRCm39) |
R71Q |
probably benign |
Het |
| Itprid1 |
T |
C |
6: 55,944,991 (GRCm39) |
S571P |
probably benign |
Het |
| Kif14 |
T |
A |
1: 136,431,145 (GRCm39) |
S1181T |
probably benign |
Het |
| Lrig3 |
C |
A |
10: 125,849,020 (GRCm39) |
P946Q |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,369,738 (GRCm39) |
C1674* |
probably null |
Het |
| Malt1 |
A |
G |
18: 65,609,126 (GRCm39) |
K710R |
probably benign |
Het |
| Mpped2 |
A |
G |
2: 106,529,847 (GRCm39) |
N32S |
possibly damaging |
Het |
| Mrtfb |
A |
C |
16: 13,219,456 (GRCm39) |
T701P |
probably benign |
Het |
| Myh10 |
A |
T |
11: 68,674,021 (GRCm39) |
T652S |
probably damaging |
Het |
| Nfia |
A |
G |
4: 97,999,462 (GRCm39) |
Y485C |
probably damaging |
Het |
| Olfml2b |
A |
T |
1: 170,496,433 (GRCm39) |
T355S |
probably benign |
Het |
| Or10q3 |
A |
T |
19: 11,847,995 (GRCm39) |
I195K |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdh1 |
A |
T |
18: 38,331,971 (GRCm39) |
V344D |
probably damaging |
Het |
| Plekhn1 |
C |
A |
4: 156,314,984 (GRCm39) |
V558L |
probably benign |
Het |
| Prr14l |
A |
G |
5: 32,987,591 (GRCm39) |
S635P |
possibly damaging |
Het |
| Prss46 |
T |
A |
9: 110,680,543 (GRCm39) |
C229* |
probably null |
Het |
| Rad50 |
A |
G |
11: 53,589,647 (GRCm39) |
|
probably null |
Het |
| Slc27a3 |
A |
T |
3: 90,296,526 (GRCm39) |
L191Q |
probably benign |
Het |
| Surf4 |
A |
G |
2: 26,823,778 (GRCm39) |
|
probably benign |
Het |
| Taf3 |
A |
G |
2: 9,956,995 (GRCm39) |
S391P |
probably damaging |
Het |
| Tep1 |
A |
C |
14: 51,105,567 (GRCm39) |
L151R |
probably benign |
Het |
| Tmprss11d |
A |
C |
5: 86,457,214 (GRCm39) |
N148K |
possibly damaging |
Het |
| Tpd52l2 |
G |
A |
2: 181,156,879 (GRCm39) |
V172I |
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,460,846 (GRCm39) |
D724G |
probably damaging |
Het |
| Wdr75 |
T |
A |
1: 45,862,519 (GRCm39) |
D779E |
probably benign |
Het |
| Zfp943 |
A |
T |
17: 22,211,794 (GRCm39) |
K293N |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGGTGGCAGCAGCATTAC -3'
(R):5'- TGGATCATTTAAGGAACAGAAGCCC -3'
Sequencing Primer
(F):5'- GCATTACCAGATAACTAGCAGGGTC -3'
(R):5'- TTTAAGGAACAGAAGCCCTTCCTAAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation