Incidental Mutation 'R1265:Alg2'
ID |
151140 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Alg2
|
Ensembl Gene |
ENSMUSG00000039740 |
Gene Name |
ALG2 alpha-1,3/1,6-mannosyltransferase |
Synonyms |
CDGIi, 1110018A23Rik, ALPG2, 1300013N08Rik |
MMRRC Submission |
039332-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1265 (G1)
|
Quality Score |
144 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
47469833-47474367 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 47474289 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044148]
[ENSMUST00000065678]
[ENSMUST00000125622]
[ENSMUST00000137461]
|
AlphaFold |
Q9DBE8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044148
|
SMART Domains |
Protein: ENSMUSP00000043580 Gene: ENSMUSG00000039740
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 |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.3%
|
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi1 |
T |
C |
2: 22,836,734 (GRCm39) |
D316G |
possibly damaging |
Het |
Aebp1 |
T |
C |
11: 5,821,740 (GRCm39) |
V713A |
probably damaging |
Het |
Ank1 |
T |
A |
8: 23,607,053 (GRCm39) |
V1273E |
possibly damaging |
Het |
Cntnap5a |
A |
G |
1: 116,356,248 (GRCm39) |
T760A |
possibly damaging |
Het |
Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
Igf2r |
A |
T |
17: 12,913,011 (GRCm39) |
V1779E |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 41,366,666 (GRCm39) |
V537M |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
Ly6h |
T |
A |
15: 75,438,032 (GRCm39) |
M27L |
probably benign |
Het |
Nphs2 |
A |
G |
1: 156,146,317 (GRCm39) |
T173A |
probably damaging |
Het |
Nsd3 |
T |
C |
8: 26,172,578 (GRCm39) |
V779A |
probably benign |
Het |
Or3a1d |
T |
C |
11: 74,237,766 (GRCm39) |
I95V |
probably benign |
Het |
Pdzd7 |
T |
C |
19: 45,029,124 (GRCm39) |
D82G |
possibly damaging |
Het |
Pkp2 |
A |
G |
16: 16,043,168 (GRCm39) |
N76S |
probably benign |
Het |
Ppip5k2 |
A |
G |
1: 97,647,625 (GRCm39) |
S976P |
probably benign |
Het |
Slc38a3 |
A |
G |
9: 107,529,185 (GRCm39) |
F489S |
probably damaging |
Het |
Sox11 |
T |
C |
12: 27,391,735 (GRCm39) |
T225A |
probably benign |
Het |
Tbx10 |
T |
C |
19: 4,046,625 (GRCm39) |
F35S |
probably damaging |
Het |
Tcf4 |
T |
C |
18: 69,776,003 (GRCm39) |
M40T |
possibly damaging |
Het |
Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
Thsd7a |
T |
C |
6: 12,317,418 (GRCm39) |
N1630S |
probably damaging |
Het |
Urb2 |
A |
G |
8: 124,751,892 (GRCm39) |
D75G |
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 |
|
IGL02321:Alg2
|
APN |
4 |
47,474,249 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCGGTCCATATCTTCACATCACAGC -3'
(R):5'- TGCCTGTAAAGATTACGCCGACAAC -3'
Sequencing Primer
(F):5'- ATCACAGCCGTACTCCTGC -3'
(R):5'- CTTTGGACAGGTCCACATGAG -3'
|
Posted On |
2014-01-29 |