Incidental Mutation 'IGL02792:Alg9'
| ID |
359771 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Alg9
|
| Ensembl Gene |
ENSMUSG00000032059 |
| Gene Name |
ALG9 alpha-1,2-mannosyltransferase |
| Synonyms |
B430313H07Rik, 8230402H15Rik, Dibd1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02792
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
50686570-50754939 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 50754048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 576
(L576P)
|
| 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: L576P
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059
AA Change: L576P
| 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 |
noncoding transcript
Transcript: ENSMUST00000161200
|
| 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: ENSMUST00000162596
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174555
|
| Predicted Effect |
silent
Transcript: ENSMUST00000175728
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177320
|
| SMART Domains |
Protein: ENSMUSP00000134818
Gene: ENSMUSG00000032059
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_22
|
2 |
99 |
4.3e-15 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
G |
A |
17: 48,401,107 (GRCm39) |
V131M |
probably benign |
Het |
| Abca6 |
A |
T |
11: 110,079,507 (GRCm39) |
C1216S |
probably damaging |
Het |
| Acly |
T |
C |
11: 100,369,236 (GRCm39) |
K1018E |
probably damaging |
Het |
| Acsl5 |
G |
A |
19: 55,282,163 (GRCm39) |
|
probably null |
Het |
| Adgrb1 |
C |
A |
15: 74,419,471 (GRCm39) |
L771I |
probably damaging |
Het |
| Adh7 |
A |
T |
3: 137,929,498 (GRCm39) |
K89I |
probably damaging |
Het |
| Adora2b |
A |
T |
11: 62,156,309 (GRCm39) |
I253F |
possibly damaging |
Het |
| Akna |
G |
A |
4: 63,295,943 (GRCm39) |
P975S |
possibly damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,761,218 (GRCm39) |
E1023G |
possibly damaging |
Het |
| Astn2 |
A |
T |
4: 65,563,058 (GRCm39) |
S908T |
probably benign |
Het |
| Atp1a4 |
C |
T |
1: 172,054,866 (GRCm39) |
|
probably null |
Het |
| Cabin1 |
T |
C |
10: 75,582,573 (GRCm39) |
Y281C |
probably damaging |
Het |
| Cdc42bpb |
G |
T |
12: 111,265,995 (GRCm39) |
F1312L |
probably benign |
Het |
| Cfap65 |
A |
C |
1: 74,966,337 (GRCm39) |
F330C |
probably damaging |
Het |
| Col27a1 |
C |
T |
4: 63,233,820 (GRCm39) |
P689S |
unknown |
Het |
| Col4a3 |
A |
T |
1: 82,696,524 (GRCm39) |
K1643N |
probably damaging |
Het |
| Dop1b |
T |
A |
16: 93,598,460 (GRCm39) |
V1875D |
possibly damaging |
Het |
| Eftud2 |
A |
G |
11: 102,761,082 (GRCm39) |
|
probably benign |
Het |
| Ergic3 |
C |
A |
2: 155,859,770 (GRCm39) |
T357K |
probably damaging |
Het |
| Glra1 |
A |
T |
11: 55,427,226 (GRCm39) |
D36E |
probably damaging |
Het |
| Gpatch1 |
A |
G |
7: 35,001,018 (GRCm39) |
Y330H |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,236,602 (GRCm39) |
S382P |
probably damaging |
Het |
| Kat6a |
G |
A |
8: 23,428,316 (GRCm39) |
E1224K |
probably damaging |
Het |
| Klk13 |
A |
G |
7: 43,370,838 (GRCm39) |
E29G |
possibly damaging |
Het |
| Klra9 |
T |
C |
6: 130,165,643 (GRCm39) |
D124G |
probably benign |
Het |
| Lrmda |
T |
C |
14: 22,069,978 (GRCm39) |
|
probably null |
Het |
| Ltbp1 |
G |
A |
17: 75,589,989 (GRCm39) |
V539M |
probably damaging |
Het |
| Ngfr |
A |
C |
11: 95,462,687 (GRCm39) |
L317R |
probably damaging |
Het |
| Nlrp6 |
C |
A |
7: 140,502,348 (GRCm39) |
H151Q |
probably damaging |
Het |
| Nnt |
A |
G |
13: 119,494,182 (GRCm39) |
L633P |
probably damaging |
Het |
| Nxpe3 |
C |
T |
16: 55,686,535 (GRCm39) |
V158M |
probably damaging |
Het |
| Or11i1 |
T |
C |
3: 106,729,456 (GRCm39) |
T140A |
probably damaging |
Het |
| Or2d36 |
T |
C |
7: 106,747,425 (GRCm39) |
F301L |
probably benign |
Het |
| Or7g16 |
C |
T |
9: 18,727,254 (GRCm39) |
S112N |
probably benign |
Het |
| Pla2g4f |
T |
C |
2: 120,133,850 (GRCm39) |
Y517C |
probably damaging |
Het |
| Poc1a |
A |
T |
9: 106,172,393 (GRCm39) |
I207F |
possibly damaging |
Het |
| Polr2a |
A |
G |
11: 69,636,938 (GRCm39) |
S338P |
probably damaging |
Het |
| Ptprz1 |
T |
C |
6: 22,959,722 (GRCm39) |
V73A |
probably damaging |
Het |
| Relb |
A |
T |
7: 19,347,789 (GRCm39) |
L281Q |
probably damaging |
Het |
| Rrp8 |
A |
T |
7: 105,383,018 (GRCm39) |
L382* |
probably null |
Het |
| Setd1a |
C |
T |
7: 127,390,522 (GRCm39) |
S523F |
unknown |
Het |
| Slamf8 |
A |
G |
1: 172,415,697 (GRCm39) |
I47T |
probably damaging |
Het |
| Slc16a4 |
G |
A |
3: 107,206,193 (GRCm39) |
A88T |
probably benign |
Het |
| Sox6 |
C |
T |
7: 115,140,884 (GRCm39) |
M532I |
probably benign |
Het |
| Tcp11l1 |
T |
A |
2: 104,512,165 (GRCm39) |
Y489F |
probably benign |
Het |
| Tdrd6 |
T |
G |
17: 43,935,918 (GRCm39) |
D1710A |
probably benign |
Het |
| Trim58 |
C |
T |
11: 58,531,292 (GRCm39) |
|
probably benign |
Het |
| Vangl1 |
A |
T |
3: 102,070,739 (GRCm39) |
I399N |
probably damaging |
Het |
| Vmn1r201 |
T |
C |
13: 22,659,014 (GRCm39) |
L76P |
probably damaging |
Het |
| Vmn1r58 |
T |
C |
7: 5,414,228 (GRCm39) |
M1V |
probably null |
Het |
| Wdfy4 |
T |
C |
14: 32,817,262 (GRCm39) |
I1561V |
probably benign |
Het |
| Xkr9 |
A |
G |
1: 13,771,027 (GRCm39) |
D181G |
probably damaging |
Het |
| Zfp318 |
T |
C |
17: 46,720,104 (GRCm39) |
F1101L |
probably damaging |
Het |
| Zfpm2 |
C |
A |
15: 40,966,409 (GRCm39) |
Q833K |
probably benign |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation