Incidental Mutation 'IGL00816:Alg6'
| ID |
13294 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Alg6
|
| Ensembl Gene |
ENSMUSG00000073792 |
| Gene Name |
ALG6 alpha-1,3-glucosyltransferase |
| Synonyms |
E230028F23Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00816
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
99603901-99651697 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99630598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 146
(S146G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095574
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097961]
[ENSMUST00000107004]
[ENSMUST00000139799]
|
| AlphaFold |
Q3TAE8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000097961
AA Change: S146G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095574
Gene: ENSMUSG00000073792
AA Change: S146G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Alg6_Alg8
|
14 |
488 |
2.1e-148 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107004
|
| SMART Domains |
Protein: ENSMUSP00000102617
Gene: ENSMUSG00000073792
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Alg6_Alg8
|
12 |
59 |
8.2e-21 |
PFAM |
|
Pfam:Alg6_Alg8
|
57 |
204 |
5.1e-54 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124147
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139799
|
| SMART Domains |
Protein: ENSMUSP00000121980
Gene: ENSMUSG00000073792
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Alg6_Alg8
|
12 |
57 |
2.5e-19 |
PFAM |
|
Pfam:Alg6_Alg8
|
54 |
158 |
2.2e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141870
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144805
|
| 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 ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,545,322 (GRCm39) |
D5654E |
probably benign |
Het |
| Anks1 |
T |
C |
17: 28,278,367 (GRCm39) |
|
probably null |
Het |
| Bcor |
T |
C |
X: 11,904,059 (GRCm39) |
I1662V |
probably damaging |
Het |
| Bzw1 |
T |
C |
1: 58,438,213 (GRCm39) |
F98L |
probably damaging |
Het |
| Cdc14b |
A |
G |
13: 64,353,217 (GRCm39) |
V453A |
probably benign |
Het |
| Copg1 |
G |
T |
6: 87,870,880 (GRCm39) |
A228S |
possibly damaging |
Het |
| D1Pas1 |
A |
G |
1: 186,701,609 (GRCm39) |
I513V |
possibly damaging |
Het |
| Efemp1 |
G |
A |
11: 28,876,223 (GRCm39) |
V463M |
probably benign |
Het |
| Ep400 |
T |
A |
5: 110,883,356 (GRCm39) |
|
probably benign |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Fgd3 |
A |
G |
13: 49,418,262 (GRCm39) |
|
probably benign |
Het |
| Furin |
C |
A |
7: 80,042,315 (GRCm39) |
G427W |
probably damaging |
Het |
| Glycam1 |
T |
G |
15: 103,472,659 (GRCm39) |
D25A |
probably damaging |
Het |
| Gpr119 |
A |
G |
X: 47,763,047 (GRCm39) |
L30P |
probably damaging |
Het |
| Gria1 |
T |
A |
11: 57,208,568 (GRCm39) |
M752K |
possibly damaging |
Het |
| Mcph1 |
C |
T |
8: 18,682,413 (GRCm39) |
P517S |
possibly damaging |
Het |
| Mug1 |
T |
A |
6: 121,859,597 (GRCm39) |
Y1199N |
probably damaging |
Het |
| Myt1 |
A |
G |
2: 181,449,308 (GRCm39) |
D663G |
probably damaging |
Het |
| Ppp1r1c |
A |
T |
2: 79,540,241 (GRCm39) |
|
probably null |
Het |
| Rab1a |
C |
T |
11: 20,174,727 (GRCm39) |
T100M |
possibly damaging |
Het |
| Rfx6 |
A |
G |
10: 51,554,501 (GRCm39) |
K114R |
probably benign |
Het |
| Rmdn1 |
T |
C |
4: 19,595,119 (GRCm39) |
V177A |
probably benign |
Het |
| Setd5 |
T |
G |
6: 113,088,375 (GRCm39) |
L168V |
probably damaging |
Het |
| Slc25a10 |
A |
T |
11: 120,385,976 (GRCm39) |
|
probably benign |
Het |
| Slc38a7 |
A |
T |
8: 96,570,748 (GRCm39) |
I252N |
probably damaging |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Taar8c |
A |
T |
10: 23,977,173 (GRCm39) |
I213N |
probably damaging |
Het |
| Tagln3 |
A |
T |
16: 45,544,556 (GRCm39) |
C38* |
probably null |
Het |
| Tmcc2 |
C |
A |
1: 132,308,436 (GRCm39) |
A153S |
probably benign |
Het |
| Tuft1 |
A |
T |
3: 94,523,138 (GRCm39) |
I291N |
probably damaging |
Het |
| Vmn2r10 |
T |
A |
5: 109,150,451 (GRCm39) |
M198L |
possibly damaging |
Het |
| Vps13d |
T |
A |
4: 144,882,564 (GRCm39) |
M1004L |
probably benign |
Het |
| Wfdc3 |
T |
C |
2: 164,584,945 (GRCm39) |
|
probably benign |
Het |
| Wfikkn2 |
G |
A |
11: 94,128,921 (GRCm39) |
Q407* |
probably null |
Het |
| Zfp106 |
T |
C |
2: 120,357,329 (GRCm39) |
I1189V |
probably benign |
Het |
| Zic2 |
T |
A |
14: 122,715,971 (GRCm39) |
C364* |
probably null |
Het |
|
| Other mutations in Alg6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Alg6
|
APN |
4 |
99,641,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01067:Alg6
|
APN |
4 |
99,629,807 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01360:Alg6
|
APN |
4 |
99,630,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02625:Alg6
|
APN |
4 |
99,634,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0944:Alg6
|
UTSW |
4 |
99,650,297 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1033:Alg6
|
UTSW |
4 |
99,650,270 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1764:Alg6
|
UTSW |
4 |
99,629,815 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1852:Alg6
|
UTSW |
4 |
99,634,599 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2020:Alg6
|
UTSW |
4 |
99,626,369 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2248:Alg6
|
UTSW |
4 |
99,626,444 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4515:Alg6
|
UTSW |
4 |
99,641,023 (GRCm39) |
intron |
probably benign |
|
|
R4976:Alg6
|
UTSW |
4 |
99,638,965 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5207:Alg6
|
UTSW |
4 |
99,607,431 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5444:Alg6
|
UTSW |
4 |
99,629,816 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5739:Alg6
|
UTSW |
4 |
99,632,737 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7060:Alg6
|
UTSW |
4 |
99,650,198 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7432:Alg6
|
UTSW |
4 |
99,641,295 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7476:Alg6
|
UTSW |
4 |
99,632,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7498:Alg6
|
UTSW |
4 |
99,636,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7585:Alg6
|
UTSW |
4 |
99,626,371 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8145:Alg6
|
UTSW |
4 |
99,634,564 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9621:Alg6
|
UTSW |
4 |
99,615,131 (GRCm39) |
nonsense |
probably null |
|
|
R9739:Alg6
|
UTSW |
4 |
99,650,195 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
| Posted On |
2012-12-06 |
Incidental Mutation