Incidental Mutation 'IGL01634:Alg9'
ID |
93580 |
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 # |
IGL01634
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
50686570-50754939 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to A
at 50686677 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123711
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034561]
[ENSMUST00000042391]
[ENSMUST00000159576]
[ENSMUST00000162073]
[ENSMUST00000176145]
[ENSMUST00000177384]
[ENSMUST00000176335]
|
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: ENSMUST00000042391
|
SMART Domains |
Protein: ENSMUSP00000037082 Gene: ENSMUSG00000037845
Domain | Start | End | E-Value | Type |
Pfam:DUF2431
|
7 |
176 |
1.4e-44 |
PFAM |
low complexity region
|
258 |
269 |
N/A |
INTRINSIC |
SCOP:d1jjca_
|
487 |
516 |
6e-4 |
SMART |
FDX-ACB
|
528 |
622 |
5.88e-17 |
SMART |
|
Predicted Effect |
probably null
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162442
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176145
|
SMART Domains |
Protein: ENSMUSP00000135796 Gene: ENSMUSG00000037845
Domain | Start | End | E-Value | Type |
Pfam:DUF2431
|
7 |
115 |
4.2e-33 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176619
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176160
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176894
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177384
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176335
|
SMART Domains |
Protein: ENSMUSP00000135658 Gene: ENSMUSG00000037845
Domain | Start | End | E-Value | Type |
low complexity region
|
56 |
67 |
N/A |
INTRINSIC |
SCOP:d1jjca_
|
285 |
314 |
3e-4 |
SMART |
FDX-ACB
|
326 |
420 |
5.88e-17 |
SMART |
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034H15Rik |
A |
T |
1: 191,633,016 (GRCm39) |
|
noncoding transcript |
Het |
4933421I07Rik |
C |
T |
7: 42,097,123 (GRCm39) |
D63N |
probably benign |
Het |
Anln |
T |
C |
9: 22,271,771 (GRCm39) |
T695A |
probably benign |
Het |
Aox4 |
G |
T |
1: 58,261,089 (GRCm39) |
D141Y |
possibly damaging |
Het |
Arhgap21 |
C |
A |
2: 20,919,455 (GRCm39) |
Q84H |
probably benign |
Het |
Arnt |
G |
A |
3: 95,377,709 (GRCm39) |
|
probably benign |
Het |
Atp8a2 |
T |
A |
14: 60,235,511 (GRCm39) |
Y677F |
probably benign |
Het |
Car6 |
C |
T |
4: 150,282,610 (GRCm39) |
V12M |
probably benign |
Het |
Cd209d |
A |
T |
8: 3,927,974 (GRCm39) |
|
probably null |
Het |
Ctnna1 |
T |
A |
18: 35,356,501 (GRCm39) |
V390E |
probably damaging |
Het |
Cypt4 |
T |
A |
9: 24,536,952 (GRCm39) |
N147K |
possibly damaging |
Het |
Dnah10 |
C |
A |
5: 124,898,405 (GRCm39) |
A3729E |
probably damaging |
Het |
Dusp8 |
A |
G |
7: 141,638,160 (GRCm39) |
V156A |
probably benign |
Het |
Ecm1 |
G |
A |
3: 95,642,211 (GRCm39) |
P458L |
probably damaging |
Het |
Fat3 |
T |
G |
9: 15,909,654 (GRCm39) |
Y2116S |
probably damaging |
Het |
Fscn3 |
T |
A |
6: 28,430,537 (GRCm39) |
Y236N |
probably damaging |
Het |
Gaa |
G |
A |
11: 119,164,902 (GRCm39) |
S265N |
possibly damaging |
Het |
Gas7 |
T |
C |
11: 67,565,057 (GRCm39) |
|
probably benign |
Het |
Gbp8 |
T |
C |
5: 105,166,438 (GRCm39) |
K297R |
probably damaging |
Het |
Gm1818 |
G |
A |
12: 48,602,992 (GRCm39) |
|
noncoding transcript |
Het |
Gm5114 |
G |
T |
7: 39,058,071 (GRCm39) |
T516K |
probably benign |
Het |
Hectd1 |
A |
G |
12: 51,850,562 (GRCm39) |
S165P |
probably damaging |
Het |
Hoxb4 |
G |
T |
11: 96,209,726 (GRCm39) |
R44L |
probably damaging |
Het |
Ivd |
G |
A |
2: 118,706,863 (GRCm39) |
R285H |
probably damaging |
Het |
Krtap20-2 |
T |
C |
16: 89,002,977 (GRCm39) |
F59S |
unknown |
Het |
Megf8 |
G |
A |
7: 25,058,206 (GRCm39) |
|
probably benign |
Het |
Mgat4d |
A |
T |
8: 84,094,745 (GRCm39) |
M261L |
possibly damaging |
Het |
Mlc1 |
A |
T |
15: 88,858,921 (GRCm39) |
|
probably benign |
Het |
Mmp20 |
T |
A |
9: 7,635,149 (GRCm39) |
Y43* |
probably null |
Het |
Morc3 |
G |
A |
16: 93,670,125 (GRCm39) |
V767I |
probably benign |
Het |
Myo15a |
A |
G |
11: 60,386,298 (GRCm39) |
T1808A |
probably damaging |
Het |
Notch4 |
T |
C |
17: 34,791,562 (GRCm39) |
F574L |
probably damaging |
Het |
Npas3 |
G |
A |
12: 53,993,946 (GRCm39) |
V164M |
probably damaging |
Het |
Nptx1 |
A |
G |
11: 119,435,498 (GRCm39) |
Y273H |
probably damaging |
Het |
Oaf |
T |
C |
9: 43,135,301 (GRCm39) |
N159S |
probably damaging |
Het |
Or10a3n |
A |
T |
7: 108,493,292 (GRCm39) |
F107L |
probably benign |
Het |
Or4c111 |
T |
A |
2: 88,843,788 (GRCm39) |
I207F |
probably damaging |
Het |
Or5ak24 |
A |
T |
2: 85,260,783 (GRCm39) |
L130H |
probably damaging |
Het |
Pgm2 |
T |
C |
5: 64,258,317 (GRCm39) |
F101L |
probably benign |
Het |
Pkd1l3 |
A |
C |
8: 110,394,157 (GRCm39) |
|
probably null |
Het |
Plcd1 |
C |
T |
9: 118,902,857 (GRCm39) |
R527H |
probably damaging |
Het |
Rexo2 |
C |
T |
9: 48,380,215 (GRCm39) |
E206K |
probably damaging |
Het |
Ropn1 |
C |
A |
16: 34,487,148 (GRCm39) |
T28N |
possibly damaging |
Het |
Ropn1 |
A |
T |
16: 34,487,141 (GRCm39) |
I26F |
probably damaging |
Het |
Rpgrip1l |
C |
A |
8: 91,979,171 (GRCm39) |
S998I |
probably benign |
Het |
Rpgrip1l |
T |
A |
8: 91,979,172 (GRCm39) |
S998C |
probably benign |
Het |
Scap |
T |
C |
9: 110,207,857 (GRCm39) |
|
probably null |
Het |
Sec23b |
T |
C |
2: 144,401,150 (GRCm39) |
Y4H |
probably damaging |
Het |
Sfrp4 |
C |
A |
13: 19,807,800 (GRCm39) |
D66E |
possibly damaging |
Het |
Slc25a36 |
T |
C |
9: 96,962,534 (GRCm39) |
T13A |
probably benign |
Het |
Synpr |
A |
T |
14: 13,608,576 (GRCm38) |
I119F |
possibly damaging |
Het |
Tamm41 |
A |
C |
6: 114,993,059 (GRCm39) |
H109Q |
probably benign |
Het |
Tet1 |
A |
T |
10: 62,714,367 (GRCm39) |
I476K |
possibly damaging |
Het |
Tg |
A |
T |
15: 66,601,415 (GRCm39) |
I142F |
probably benign |
Het |
Thada |
A |
T |
17: 84,700,786 (GRCm39) |
|
probably null |
Het |
Triobp |
T |
C |
15: 78,877,568 (GRCm39) |
L1654P |
probably damaging |
Het |
Trpm7 |
A |
G |
2: 126,668,738 (GRCm39) |
V726A |
probably damaging |
Het |
Txndc15 |
T |
G |
13: 55,869,438 (GRCm39) |
V197G |
probably damaging |
Het |
Ubr3 |
A |
T |
2: 69,803,916 (GRCm39) |
T1169S |
probably benign |
Het |
Uhmk1 |
C |
T |
1: 170,034,682 (GRCm39) |
|
probably null |
Het |
Vmn2r16 |
T |
A |
5: 109,488,177 (GRCm39) |
M350K |
probably benign |
Het |
Vmn2r77 |
G |
A |
7: 86,460,857 (GRCm39) |
V728I |
probably benign |
Het |
Wipf1 |
G |
A |
2: 73,278,225 (GRCm39) |
P7S |
unknown |
Het |
Zswim3 |
A |
G |
2: 164,661,922 (GRCm39) |
D134G |
probably damaging |
Het |
|
Other mutations in Alg9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-12-09 |