Incidental Mutation 'R4544:Alg9'
| ID |
333684 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alg9
|
| Ensembl Gene |
ENSMUSG00000032059 |
| Gene Name |
ALG9 alpha-1,2-mannosyltransferase |
| Synonyms |
B430313H07Rik, 8230402H15Rik, Dibd1 |
| MMRRC Submission |
041779-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4544 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
50686570-50754939 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 50716654 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 409
(T409M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034561]
[ENSMUST00000162073]
[ENSMUST00000177320]
|
| AlphaFold |
Q8VDI9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034561
AA Change: T409M
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059
AA Change: T409M
| 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: 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 |
probably benign
Transcript: ENSMUST00000175728
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177320
AA Change: T26M
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000134818
Gene: ENSMUSG00000032059
AA Change: T26M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_22
|
2 |
99 |
4.3e-15 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (58/58) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
A |
C |
13: 4,557,843 (GRCm39) |
V201G |
probably damaging |
Het |
| Atf7 |
A |
G |
15: 102,442,762 (GRCm39) |
V449A |
probably benign |
Het |
| C1s1 |
A |
G |
6: 124,508,499 (GRCm39) |
S497P |
probably benign |
Het |
| Ccnyl1 |
G |
T |
1: 64,762,735 (GRCm39) |
M347I |
probably benign |
Het |
| Chil4 |
C |
A |
3: 106,117,922 (GRCm39) |
R116L |
probably damaging |
Het |
| Cmpk2 |
A |
G |
12: 26,528,016 (GRCm39) |
E411G |
probably damaging |
Het |
| Cmya5 |
G |
A |
13: 93,228,426 (GRCm39) |
R2221* |
probably null |
Het |
| Csmd1 |
A |
T |
8: 16,760,652 (GRCm39) |
F161Y |
possibly damaging |
Het |
| Cspg4 |
T |
A |
9: 56,795,913 (GRCm39) |
L1216Q |
possibly damaging |
Het |
| Dppa3 |
A |
G |
6: 122,603,726 (GRCm39) |
|
probably benign |
Het |
| Ednra |
A |
G |
8: 78,401,540 (GRCm39) |
|
probably null |
Het |
| Fancd2 |
A |
G |
6: 113,549,603 (GRCm39) |
|
probably null |
Het |
| Fastkd1 |
C |
T |
2: 69,542,655 (GRCm39) |
E51K |
probably damaging |
Het |
| Fndc1 |
T |
A |
17: 7,992,376 (GRCm39) |
D440V |
unknown |
Het |
| Gm9934 |
A |
G |
7: 92,702,188 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac1-ps |
A |
T |
17: 78,800,388 (GRCm39) |
T460S |
probably benign |
Het |
| Ifi205 |
T |
C |
1: 173,854,139 (GRCm39) |
I171M |
possibly damaging |
Het |
| Ifi213 |
T |
C |
1: 173,409,693 (GRCm39) |
|
probably null |
Het |
| Insig2 |
A |
T |
1: 121,239,921 (GRCm39) |
|
probably benign |
Het |
| Kdm7a |
T |
C |
6: 39,152,406 (GRCm39) |
R97G |
probably benign |
Het |
| Krt23 |
G |
A |
11: 99,369,102 (GRCm39) |
T397M |
probably benign |
Het |
| Lepr |
G |
A |
4: 101,625,425 (GRCm39) |
V527I |
possibly damaging |
Het |
| Lmo2 |
C |
T |
2: 103,806,382 (GRCm39) |
P25L |
probably damaging |
Het |
| Lsr |
C |
T |
7: 30,671,401 (GRCm39) |
V111M |
probably damaging |
Het |
| Mest |
T |
C |
6: 30,740,679 (GRCm39) |
W13R |
probably damaging |
Het |
| Mfn2 |
A |
G |
4: 147,971,909 (GRCm39) |
V224A |
probably benign |
Het |
| Mkx |
T |
C |
18: 7,000,651 (GRCm39) |
Y97C |
probably damaging |
Het |
| Mndal |
A |
T |
1: 173,703,230 (GRCm39) |
Y58* |
probably null |
Het |
| Myo9b |
T |
C |
8: 71,780,585 (GRCm39) |
V494A |
probably damaging |
Het |
| Nek1 |
C |
T |
8: 61,469,338 (GRCm39) |
Q132* |
probably null |
Het |
| Or2a12 |
C |
T |
6: 42,904,348 (GRCm39) |
S61L |
probably damaging |
Het |
| Or6c5 |
A |
C |
10: 129,074,027 (GRCm39) |
N3T |
probably damaging |
Het |
| Osbpl6 |
T |
C |
2: 76,414,836 (GRCm39) |
V409A |
possibly damaging |
Het |
| Pde8a |
A |
T |
7: 80,977,847 (GRCm39) |
R713S |
probably damaging |
Het |
| Pex10 |
T |
C |
4: 155,154,952 (GRCm39) |
Y235H |
probably benign |
Het |
| Pik3cb |
T |
A |
9: 98,921,812 (GRCm39) |
K1050I |
probably damaging |
Het |
| Prss56 |
A |
G |
1: 87,112,364 (GRCm39) |
D85G |
probably damaging |
Het |
| Psg26 |
T |
C |
7: 18,212,464 (GRCm39) |
N297S |
probably damaging |
Het |
| Rdh16f1 |
T |
C |
10: 127,626,706 (GRCm39) |
L253S |
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Slc7a8 |
C |
G |
14: 54,973,247 (GRCm39) |
G240A |
possibly damaging |
Het |
| Slc8b1 |
G |
A |
5: 120,669,218 (GRCm39) |
|
probably null |
Het |
| Sorbs1 |
G |
A |
19: 40,300,294 (GRCm39) |
T575M |
probably damaging |
Het |
| Syne3 |
T |
A |
12: 104,925,728 (GRCm39) |
K313M |
probably damaging |
Het |
| Tas2r108 |
A |
G |
6: 40,470,742 (GRCm39) |
T73A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,652,932 (GRCm39) |
|
probably null |
Het |
| Uba52rt |
C |
T |
4: 3,973,244 (GRCm39) |
R106H |
probably benign |
Het |
| Ubr3 |
G |
A |
2: 69,786,437 (GRCm39) |
M850I |
probably benign |
Het |
| Vmn2r78 |
A |
T |
7: 86,570,399 (GRCm39) |
M306L |
probably benign |
Het |
| Vmn2r9 |
T |
G |
5: 108,995,551 (GRCm39) |
M366L |
probably benign |
Het |
| Zan |
C |
G |
5: 137,382,096 (GRCm39) |
M5150I |
unknown |
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 |
|
R1270:Alg9
|
UTSW |
9 |
50,698,872 (GRCm39) |
intron |
probably benign |
|
|
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 |
|
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 |
PCR Primer
(F):5'- TCAGACCCTTGTCACACCTG -3'
(R):5'- GTACAGAGGTCACATCCCAC -3'
Sequencing Primer
(F):5'- ACACCTGCTGTTCTGCGTG -3'
(R):5'- ACATGACTTCCCTTTGAGAGCAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation