Incidental Mutation 'R3148:Alg2'
| ID |
264317 |
| 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 |
040600-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3148 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
47469833-47474367 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 47472259 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 183
(V183D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044148]
[ENSMUST00000065678]
[ENSMUST00000125622]
[ENSMUST00000137461]
|
| AlphaFold |
Q9DBE8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044148
AA Change: V183D
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043580
Gene: ENSMUSG00000039740
AA Change: V183D
| 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 |
unknown
Transcript: ENSMUST00000143104
AA Change: V55D
|
| SMART Domains |
Protein: ENSMUSP00000121934
Gene: ENSMUSG00000039740
AA Change: V55D
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933436I01Rik |
T |
C |
X: 66,964,984 (GRCm39) |
D12G |
probably benign |
Het |
| Adamts18 |
C |
A |
8: 114,465,490 (GRCm39) |
V701L |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,726,724 (GRCm39) |
I857V |
probably benign |
Het |
| Asb15 |
G |
T |
6: 24,566,258 (GRCm39) |
A404S |
probably damaging |
Het |
| Baalc |
A |
T |
15: 38,812,568 (GRCm39) |
E106V |
possibly damaging |
Het |
| Catsperd |
G |
T |
17: 56,971,039 (GRCm39) |
C701F |
possibly damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,866,497 (GRCm39) |
I769N |
probably damaging |
Het |
| Cntnap4 |
A |
G |
8: 113,484,071 (GRCm39) |
T375A |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,790,473 (GRCm39) |
T974A |
unknown |
Het |
| Ehbp1 |
T |
C |
11: 22,050,465 (GRCm39) |
Y502C |
probably damaging |
Het |
| Kcnj11 |
C |
T |
7: 45,748,544 (GRCm39) |
V260I |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Marf1 |
A |
G |
16: 13,943,843 (GRCm39) |
V1380A |
possibly damaging |
Het |
| Or4k36 |
T |
C |
2: 111,146,633 (GRCm39) |
F270L |
possibly damaging |
Het |
| Otog |
T |
C |
7: 45,939,593 (GRCm39) |
L2124P |
probably damaging |
Het |
| Pam |
T |
A |
1: 97,823,403 (GRCm39) |
N256I |
possibly damaging |
Het |
| Pcbp1 |
C |
T |
6: 86,502,471 (GRCm39) |
E143K |
probably damaging |
Het |
| Pramel21 |
A |
T |
4: 143,344,047 (GRCm39) |
D449V |
probably benign |
Het |
| Prrx1 |
T |
C |
1: 163,085,417 (GRCm39) |
D171G |
probably benign |
Het |
| Rasal2 |
A |
T |
1: 157,071,334 (GRCm39) |
|
probably benign |
Het |
| Serpinb5 |
T |
A |
1: 106,809,555 (GRCm39) |
H320Q |
probably damaging |
Het |
| Snx4 |
A |
C |
16: 33,108,094 (GRCm39) |
D296A |
probably benign |
Het |
| Sorcs2 |
T |
C |
5: 36,193,132 (GRCm39) |
Q778R |
probably benign |
Het |
| Spata16 |
T |
C |
3: 26,932,861 (GRCm39) |
|
probably null |
Het |
| Tcerg1l |
G |
T |
7: 137,861,596 (GRCm39) |
Q378K |
probably benign |
Het |
| Trpm1 |
T |
C |
7: 63,884,760 (GRCm39) |
Y814H |
probably benign |
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 |
|
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 |
|
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'- GATGGTAACCGATTCCGAAGC -3'
(R):5'- TGTTCAAACTGGCCAGACG -3'
Sequencing Primer
(F):5'- TGCACCAAGGATCTCAGTG -3'
(R):5'- ACGGCGTAAGAGGGTCCTATTTTAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation