Incidental Mutation 'IGL02321:Alg2'
| ID |
288235 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Alg2
|
| Ensembl Gene |
ENSMUSG00000039740 |
| Gene Name |
ALG2 alpha-1,3/1,6-mannosyltransferase |
| Synonyms |
CDGIi, 1110018A23Rik, ALPG2, 1300013N08Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02321
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
47469833-47474367 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47474249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 13
(Y13C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044148]
[ENSMUST00000065678]
[ENSMUST00000125622]
[ENSMUST00000137461]
|
| AlphaFold |
Q9DBE8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044148
AA Change: Y13C
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000043580
Gene: ENSMUSG00000039740
AA Change: Y13C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_4
|
21 |
208 |
1.1e-10 |
PFAM |
|
Pfam:Glyco_trans_4_4
|
27 |
189 |
1.3e-12 |
PFAM |
|
Pfam:Glycos_transf_1
|
211 |
393 |
4.1e-37 |
PFAM |
|
Pfam:Glyco_trans_1_4
|
224 |
379 |
1.9e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065678
|
| SMART Domains |
Protein: ENSMUSP00000067681
Gene: ENSMUSG00000053317
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec61_beta
|
51 |
91 |
1.5e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125622
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136685
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136912
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137461
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143104
|
| SMART Domains |
Protein: ENSMUSP00000121934
Gene: ENSMUSG00000039740
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
12 |
N/A |
INTRINSIC |
|
Pfam:Glycos_transf_1
|
84 |
177 |
6.7e-11 |
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 a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]
PHENOTYPE: Homozygous mice die prior to genotyping age. Female heterozygous mice exhibit decreased skin fibroblast proliferation rates. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsf3 |
C |
T |
8: 123,506,853 (GRCm39) |
R49C |
possibly damaging |
Het |
| Apoa4 |
A |
G |
9: 46,154,218 (GRCm39) |
D273G |
probably damaging |
Het |
| Axl |
C |
T |
7: 25,458,194 (GRCm39) |
V854I |
probably damaging |
Het |
| Bicral |
A |
G |
17: 47,122,873 (GRCm39) |
S673P |
probably benign |
Het |
| Camkk2 |
A |
G |
5: 122,902,190 (GRCm39) |
S40P |
probably damaging |
Het |
| Ccdc39 |
A |
G |
3: 33,871,107 (GRCm39) |
|
probably benign |
Het |
| Ccdc87 |
A |
G |
19: 4,891,059 (GRCm39) |
E517G |
probably damaging |
Het |
| Cd22 |
A |
G |
7: 30,569,308 (GRCm39) |
S603P |
probably damaging |
Het |
| Cdk5rap3 |
A |
T |
11: 96,804,291 (GRCm39) |
C21S |
probably damaging |
Het |
| Chml |
G |
A |
1: 175,519,900 (GRCm39) |
P68L |
possibly damaging |
Het |
| Cplane1 |
A |
G |
15: 8,246,056 (GRCm39) |
E1476G |
probably benign |
Het |
| Cstdc6 |
A |
G |
16: 36,143,388 (GRCm39) |
|
probably benign |
Het |
| Ephb3 |
T |
C |
16: 21,033,139 (GRCm39) |
V41A |
probably damaging |
Het |
| Gm4781 |
T |
A |
10: 100,232,752 (GRCm39) |
|
noncoding transcript |
Het |
| Hip1r |
A |
T |
5: 124,137,953 (GRCm39) |
I760F |
probably damaging |
Het |
| Hyal5 |
T |
C |
6: 24,891,614 (GRCm39) |
L476P |
probably benign |
Het |
| Isyna1 |
A |
G |
8: 71,048,920 (GRCm39) |
N333S |
probably damaging |
Het |
| Kcnmb1 |
A |
T |
11: 33,920,091 (GRCm39) |
|
probably benign |
Het |
| Mark4 |
T |
C |
7: 19,160,314 (GRCm39) |
T649A |
probably benign |
Het |
| Mgat1 |
T |
C |
11: 49,152,536 (GRCm39) |
F340L |
probably benign |
Het |
| Mical1 |
G |
A |
10: 41,362,660 (GRCm39) |
E932K |
possibly damaging |
Het |
| Mmaa |
T |
G |
8: 80,000,759 (GRCm39) |
Y233S |
probably damaging |
Het |
| Ntsr1 |
G |
T |
2: 180,180,627 (GRCm39) |
|
probably null |
Het |
| Or2o1 |
T |
G |
11: 49,051,602 (GRCm39) |
Y254D |
probably damaging |
Het |
| Orm2 |
T |
C |
4: 63,281,229 (GRCm39) |
Y56H |
probably damaging |
Het |
| Pex26 |
C |
T |
6: 121,170,468 (GRCm39) |
|
probably benign |
Het |
| Pik3r4 |
C |
T |
9: 105,521,677 (GRCm39) |
A81V |
probably benign |
Het |
| Pramel32 |
A |
G |
4: 88,548,340 (GRCm39) |
S22P |
probably benign |
Het |
| Prr14l |
G |
T |
5: 32,985,151 (GRCm39) |
T1448K |
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,254,736 (GRCm39) |
Y799* |
probably null |
Het |
| Ryr1 |
A |
C |
7: 28,778,121 (GRCm39) |
L2132R |
probably damaging |
Het |
| Sec23b |
T |
C |
2: 144,421,325 (GRCm39) |
|
probably null |
Het |
| Sirt5 |
C |
T |
13: 43,533,164 (GRCm39) |
T164I |
probably damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,376,977 (GRCm39) |
V429A |
probably benign |
Het |
| Spen |
T |
C |
4: 141,244,441 (GRCm39) |
D198G |
unknown |
Het |
| Syne2 |
A |
G |
12: 75,965,773 (GRCm39) |
N832D |
possibly damaging |
Het |
| Traf7 |
C |
A |
17: 24,732,020 (GRCm39) |
C193F |
possibly damaging |
Het |
| Vmn1r191 |
T |
A |
13: 22,363,068 (GRCm39) |
R229* |
probably null |
Het |
| Vps53 |
C |
T |
11: 75,939,364 (GRCm39) |
D680N |
possibly damaging |
Het |
| Wbp1l |
G |
T |
19: 46,642,749 (GRCm39) |
G234V |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,070,475 (GRCm39) |
S1098T |
probably damaging |
Het |
| Yod1 |
T |
A |
1: 130,646,688 (GRCm39) |
D188E |
probably damaging |
Het |
| Zbtb25 |
T |
C |
12: 76,396,907 (GRCm39) |
D105G |
probably damaging |
Het |
|
| Other mutations in Alg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00673:Alg2
|
APN |
4 |
47,472,329 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02314:Alg2
|
APN |
4 |
47,472,143 (GRCm39) |
nonsense |
probably null |
|
|
IGL02697:Alg2
|
APN |
4 |
47,471,772 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4434001:Alg2
|
UTSW |
4 |
47,474,076 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1265:Alg2
|
UTSW |
4 |
47,474,289 (GRCm39) |
unclassified |
probably benign |
|
|
R1861:Alg2
|
UTSW |
4 |
47,471,670 (GRCm39) |
missense |
probably benign |
|
|
R3147:Alg2
|
UTSW |
4 |
47,472,259 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3148:Alg2
|
UTSW |
4 |
47,472,259 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4828:Alg2
|
UTSW |
4 |
47,471,563 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4937:Alg2
|
UTSW |
4 |
47,473,974 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5529:Alg2
|
UTSW |
4 |
47,472,101 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6523:Alg2
|
UTSW |
4 |
47,472,071 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7007:Alg2
|
UTSW |
4 |
47,471,881 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7990:Alg2
|
UTSW |
4 |
47,472,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8361:Alg2
|
UTSW |
4 |
47,471,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8678:Alg2
|
UTSW |
4 |
47,474,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8885:Alg2
|
UTSW |
4 |
47,474,159 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9248:Alg2
|
UTSW |
4 |
47,474,001 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation