Incidental Mutation 'IGL00834:Alg5'
ID |
8783 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Alg5
|
Ensembl Gene |
ENSMUSG00000036632 |
Gene Name |
ALG5 dolichyl-phosphate beta-glucosyltransferase |
Synonyms |
2600005J22Rik, 1500026A19Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.182)
|
Stock # |
IGL00834
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
54642960-54657216 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 54652140 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119260
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044567]
[ENSMUST00000141191]
[ENSMUST00000155273]
|
AlphaFold |
Q9DB25 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044567
|
SMART Domains |
Protein: ENSMUSP00000035879 Gene: ENSMUSG00000036632
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
Pfam:Glyco_tranf_2_3
|
63 |
174 |
2.1e-10 |
PFAM |
Pfam:Glycos_transf_2
|
68 |
250 |
2.9e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141191
|
SMART Domains |
Protein: ENSMUSP00000118818 Gene: ENSMUSG00000036632
Domain | Start | End | E-Value | Type |
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143387
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155273
|
SMART Domains |
Protein: ENSMUSP00000119260 Gene: ENSMUSG00000036632
Domain | Start | End | E-Value | Type |
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
|
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 a member of the glycosyltransferase 2 family. The encoded protein participates in glucosylation of the oligomannose core in N-linked glycosylation of proteins. The addition of glucose residues to the oligomannose core is necessary to ensure substrate recognition, and therefore, effectual transfer of the oligomannose core to the nascent glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] PHENOTYPE: Embryos homozygous for an ENU-induced mutation arrest unturned at E9.5 and display no left-right asymmetry. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c20 |
A |
G |
13: 4,562,664 (GRCm39) |
|
probably null |
Het |
App |
A |
T |
16: 84,762,599 (GRCm39) |
F675I |
probably damaging |
Het |
Atad1 |
C |
A |
19: 32,675,968 (GRCm39) |
C152F |
probably benign |
Het |
Atp2a3 |
A |
C |
11: 72,873,613 (GRCm39) |
I829L |
probably damaging |
Het |
B3galt1 |
C |
T |
2: 67,949,050 (GRCm39) |
S255L |
probably damaging |
Het |
Bptf |
A |
G |
11: 106,964,754 (GRCm39) |
V1417A |
possibly damaging |
Het |
Cast |
T |
A |
13: 74,885,093 (GRCm39) |
T219S |
probably damaging |
Het |
Cep95 |
A |
T |
11: 106,709,043 (GRCm39) |
I705F |
probably damaging |
Het |
Cnot3 |
C |
T |
7: 3,653,854 (GRCm39) |
A2V |
probably damaging |
Het |
Col1a1 |
A |
G |
11: 94,840,204 (GRCm39) |
D1084G |
unknown |
Het |
Col5a3 |
G |
A |
9: 20,697,685 (GRCm39) |
Q873* |
probably null |
Het |
Cubn |
C |
T |
2: 13,386,738 (GRCm39) |
G1509D |
probably damaging |
Het |
Defb10 |
T |
A |
8: 22,351,952 (GRCm39) |
C66S |
possibly damaging |
Het |
Dennd4b |
T |
C |
3: 90,186,993 (GRCm39) |
|
probably null |
Het |
Dido1 |
G |
A |
2: 180,331,319 (GRCm39) |
T43M |
possibly damaging |
Het |
Hmcn1 |
C |
T |
1: 150,506,091 (GRCm39) |
V3812I |
probably benign |
Het |
Islr2 |
T |
C |
9: 58,107,069 (GRCm39) |
T64A |
probably benign |
Het |
Kif2b |
A |
T |
11: 91,467,206 (GRCm39) |
I359N |
probably damaging |
Het |
Kit |
A |
C |
5: 75,806,619 (GRCm39) |
N704T |
probably damaging |
Het |
Ksr1 |
A |
G |
11: 78,918,343 (GRCm39) |
F604L |
probably damaging |
Het |
Lrp5 |
A |
T |
19: 3,699,404 (GRCm39) |
F294I |
probably benign |
Het |
Lrrn1 |
A |
G |
6: 107,545,269 (GRCm39) |
T356A |
probably benign |
Het |
Mrps17 |
G |
A |
5: 129,793,829 (GRCm39) |
V8I |
probably benign |
Het |
Nop56 |
T |
A |
2: 130,117,915 (GRCm39) |
H130Q |
possibly damaging |
Het |
Plg |
T |
A |
17: 12,630,380 (GRCm39) |
L639Q |
probably damaging |
Het |
Ppcdc |
A |
G |
9: 57,322,423 (GRCm39) |
F159L |
probably benign |
Het |
Ppp1ca |
A |
G |
19: 4,244,519 (GRCm39) |
T193A |
probably benign |
Het |
Prpf39 |
A |
G |
12: 65,090,037 (GRCm39) |
D117G |
probably damaging |
Het |
Ranbp2 |
C |
A |
10: 58,289,145 (GRCm39) |
T51K |
possibly damaging |
Het |
Sytl2 |
A |
G |
7: 90,031,844 (GRCm39) |
|
probably benign |
Het |
Tenm2 |
T |
A |
11: 35,915,085 (GRCm39) |
I2150F |
probably damaging |
Het |
Wdr11 |
T |
G |
7: 129,194,817 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Alg5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R2008:Alg5
|
UTSW |
3 |
54,653,894 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3428:Alg5
|
UTSW |
3 |
54,643,006 (GRCm39) |
start codon destroyed |
probably null |
|
R3547:Alg5
|
UTSW |
3 |
54,656,736 (GRCm39) |
missense |
probably benign |
0.15 |
R4372:Alg5
|
UTSW |
3 |
54,646,376 (GRCm39) |
critical splice donor site |
probably null |
|
R4764:Alg5
|
UTSW |
3 |
54,653,894 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5128:Alg5
|
UTSW |
3 |
54,649,558 (GRCm39) |
splice site |
probably null |
|
R5476:Alg5
|
UTSW |
3 |
54,654,019 (GRCm39) |
missense |
probably benign |
0.01 |
R5638:Alg5
|
UTSW |
3 |
54,646,254 (GRCm39) |
missense |
probably benign |
0.22 |
R6880:Alg5
|
UTSW |
3 |
54,646,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R6897:Alg5
|
UTSW |
3 |
54,656,063 (GRCm39) |
missense |
probably benign |
|
R7317:Alg5
|
UTSW |
3 |
54,656,752 (GRCm39) |
missense |
probably benign |
0.00 |
R8244:Alg5
|
UTSW |
3 |
54,646,221 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2012-12-06 |