Incidental Mutation 'R1270:Alg9'
| ID |
229963 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alg9
|
| Ensembl Gene |
ENSMUSG00000032059 |
| Gene Name |
ALG9 alpha-1,2-mannosyltransferase |
| Synonyms |
B430313H07Rik, 8230402H15Rik, Dibd1 |
| MMRRC Submission |
039336-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1270 (G1)
|
| Quality Score |
39 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
50686570-50754939 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 50698872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034561]
[ENSMUST00000159576]
[ENSMUST00000162073]
|
| AlphaFold |
Q8VDI9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034561
|
| SMART Domains |
Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_22
|
60 |
482 |
3.5e-127 |
PFAM |
|
low complexity region
|
598 |
611 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159576
|
| SMART Domains |
Protein: ENSMUSP00000123711
Gene: ENSMUSG00000032059
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_22
|
60 |
228 |
1e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162073
|
| SMART Domains |
Protein: ENSMUSP00000125425
Gene: ENSMUSG00000032059
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_22
|
60 |
167 |
7.5e-31 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162363
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.7%
|
| Validation Efficiency |
97% (36/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
C |
T |
11: 94,248,210 (GRCm39) |
R1129Q |
probably damaging |
Het |
| Adam7 |
T |
A |
14: 68,765,118 (GRCm39) |
K93M |
probably damaging |
Het |
| Aldh1a2 |
T |
G |
9: 71,188,988 (GRCm39) |
L301V |
probably benign |
Het |
| Aspg |
C |
T |
12: 112,082,881 (GRCm39) |
T187I |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,006,333 (GRCm39) |
H1662Q |
probably damaging |
Het |
| C4a |
A |
G |
17: 35,033,505 (GRCm39) |
|
noncoding transcript |
Het |
| Cdh2 |
T |
G |
18: 16,760,614 (GRCm39) |
|
probably benign |
Het |
| Ceacam1 |
T |
C |
7: 25,165,739 (GRCm39) |
|
probably null |
Het |
| Cep250 |
G |
A |
2: 155,832,601 (GRCm39) |
V1509I |
probably benign |
Het |
| D130043K22Rik |
T |
C |
13: 25,041,321 (GRCm39) |
S248P |
probably benign |
Het |
| Dgkd |
A |
T |
1: 87,861,847 (GRCm39) |
M801L |
probably damaging |
Het |
| Edc4 |
A |
G |
8: 106,617,896 (GRCm39) |
E1152G |
possibly damaging |
Het |
| Enkd1 |
A |
G |
8: 106,430,533 (GRCm39) |
I334T |
probably damaging |
Het |
| Gli3 |
C |
T |
13: 15,898,329 (GRCm39) |
A803V |
probably benign |
Het |
| Glrx3 |
A |
G |
7: 137,055,143 (GRCm39) |
N95S |
probably benign |
Het |
| Ints2 |
C |
T |
11: 86,123,911 (GRCm39) |
G626R |
probably damaging |
Het |
| Kank2 |
A |
T |
9: 21,684,056 (GRCm39) |
N724K |
probably damaging |
Het |
| Kctd20 |
A |
G |
17: 29,185,905 (GRCm39) |
D416G |
possibly damaging |
Het |
| Lmtk3 |
A |
G |
7: 45,443,252 (GRCm39) |
E645G |
probably damaging |
Het |
| Mrgpra9 |
A |
T |
7: 46,902,531 (GRCm39) |
|
probably null |
Het |
| Muc1 |
T |
A |
3: 89,139,414 (GRCm39) |
Y605N |
probably damaging |
Het |
| Or4a47 |
C |
T |
2: 89,665,666 (GRCm39) |
V208M |
possibly damaging |
Het |
| Or8g17 |
A |
C |
9: 38,930,543 (GRCm39) |
I98R |
possibly damaging |
Het |
| Prx |
T |
A |
7: 27,218,355 (GRCm39) |
I952N |
probably damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,799,856 (GRCm39) |
Y90* |
probably null |
Het |
| Swt1 |
A |
T |
1: 151,260,142 (GRCm39) |
N752K |
probably benign |
Het |
| Taar1 |
T |
C |
10: 23,796,431 (GRCm39) |
V43A |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,932,486 (GRCm39) |
N1702D |
probably damaging |
Het |
| Tff2 |
C |
T |
17: 31,363,143 (GRCm39) |
|
probably null |
Het |
| Trim2 |
G |
A |
3: 84,074,984 (GRCm39) |
A686V |
probably damaging |
Het |
| Ube2q2l |
A |
T |
6: 136,378,785 (GRCm39) |
I15N |
probably damaging |
Het |
|
| Other mutations in Alg9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01634:Alg9
|
APN |
9 |
50,686,677 (GRCm39) |
splice site |
probably null |
|
|
IGL02792:Alg9
|
APN |
9 |
50,754,048 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
gum_drop
|
UTSW |
9 |
50,716,654 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
FR4976:Alg9
|
UTSW |
9 |
50,686,731 (GRCm39) |
unclassified |
probably benign |
|
|
R1183:Alg9
|
UTSW |
9 |
50,700,833 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1575:Alg9
|
UTSW |
9 |
50,686,802 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1773:Alg9
|
UTSW |
9 |
50,690,396 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1837:Alg9
|
UTSW |
9 |
50,717,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2011:Alg9
|
UTSW |
9 |
50,699,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4324:Alg9
|
UTSW |
9 |
50,716,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4514:Alg9
|
UTSW |
9 |
50,716,654 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4544:Alg9
|
UTSW |
9 |
50,716,654 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4546:Alg9
|
UTSW |
9 |
50,716,654 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4996:Alg9
|
UTSW |
9 |
50,720,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5007:Alg9
|
UTSW |
9 |
50,699,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5053:Alg9
|
UTSW |
9 |
50,699,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5308:Alg9
|
UTSW |
9 |
50,734,011 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6803:Alg9
|
UTSW |
9 |
50,700,860 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6994:Alg9
|
UTSW |
9 |
50,703,422 (GRCm39) |
nonsense |
probably null |
|
|
R6998:Alg9
|
UTSW |
9 |
50,700,921 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7298:Alg9
|
UTSW |
9 |
50,690,361 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7480:Alg9
|
UTSW |
9 |
50,733,928 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7561:Alg9
|
UTSW |
9 |
50,754,074 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7578:Alg9
|
UTSW |
9 |
50,700,835 (GRCm39) |
missense |
probably benign |
|
|
R7721:Alg9
|
UTSW |
9 |
50,687,942 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7829:Alg9
|
UTSW |
9 |
50,699,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7847:Alg9
|
UTSW |
9 |
50,700,905 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7878:Alg9
|
UTSW |
9 |
50,754,083 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8113:Alg9
|
UTSW |
9 |
50,720,080 (GRCm39) |
nonsense |
probably null |
|
|
R8257:Alg9
|
UTSW |
9 |
50,690,387 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9214:Alg9
|
UTSW |
9 |
50,717,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9497:Alg9
|
UTSW |
9 |
50,711,436 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9511:Alg9
|
UTSW |
9 |
50,717,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF003:Alg9
|
UTSW |
9 |
50,686,727 (GRCm39) |
unclassified |
probably benign |
|
|
RF006:Alg9
|
UTSW |
9 |
50,686,717 (GRCm39) |
unclassified |
probably benign |
|
|
RF058:Alg9
|
UTSW |
9 |
50,686,727 (GRCm39) |
unclassified |
probably benign |
|
|
Z1177:Alg9
|
UTSW |
9 |
50,699,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2014-09-18 |
Incidental Mutation