Incidental Mutation 'IGL01333:Stt3b'
| ID |
74547 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stt3b
|
| Ensembl Gene |
ENSMUSG00000032437 |
| Gene Name |
STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae) |
| Synonyms |
1300006C19Rik, Simp |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.807)
|
| Stock # |
IGL01333
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
115071649-115139489 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 115086612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 336
(Y336N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035010]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035010
AA Change: Y336N
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000035010
Gene: ENSMUSG00000032437
AA Change: Y336N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
60 |
N/A |
INTRINSIC |
|
Pfam:STT3
|
68 |
560 |
2e-151 |
PFAM |
|
low complexity region
|
807 |
821 |
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.] The protein encoded by this gene is a catalytic subunit of a protein complex that transfers oligosaccharides onto asparagine residues. Defects in this gene are a cause of congenital disorder of glycosylation Ix (CDG1X). [provided by RefSeq, Jun 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
G |
T |
7: 119,981,531 (GRCm39) |
C995F |
probably damaging |
Het |
| Adamts7 |
G |
T |
9: 90,069,032 (GRCm39) |
G525C |
probably damaging |
Het |
| Akap1 |
T |
C |
11: 88,736,431 (GRCm39) |
E110G |
probably damaging |
Het |
| Ankrd7 |
A |
G |
6: 18,879,345 (GRCm39) |
H263R |
probably damaging |
Het |
| Cav3 |
T |
C |
6: 112,436,888 (GRCm39) |
|
probably null |
Het |
| Ccdc66 |
T |
C |
14: 27,215,272 (GRCm39) |
R423G |
possibly damaging |
Het |
| Cep76 |
C |
T |
18: 67,773,187 (GRCm39) |
R37Q |
probably benign |
Het |
| Chfr |
A |
G |
5: 110,291,439 (GRCm39) |
K86E |
possibly damaging |
Het |
| Eif2b3 |
T |
A |
4: 116,927,887 (GRCm39) |
S369T |
probably benign |
Het |
| Hgf |
A |
T |
5: 16,781,939 (GRCm39) |
R221* |
probably null |
Het |
| Hspg2 |
T |
C |
4: 137,267,625 (GRCm39) |
Y2078H |
probably damaging |
Het |
| Kif22 |
A |
C |
7: 126,633,367 (GRCm39) |
V55G |
probably damaging |
Het |
| Mme |
T |
C |
3: 63,253,512 (GRCm39) |
I452T |
probably damaging |
Het |
| Mrpl41 |
T |
C |
2: 24,864,453 (GRCm39) |
N73S |
probably benign |
Het |
| Mup6 |
T |
C |
4: 60,005,529 (GRCm39) |
F112S |
probably damaging |
Het |
| Nktr |
A |
G |
9: 121,560,630 (GRCm39) |
I125V |
possibly damaging |
Het |
| Nup205 |
T |
C |
6: 35,217,998 (GRCm39) |
F1784L |
probably benign |
Het |
| Nwd1 |
A |
G |
8: 73,393,439 (GRCm39) |
D275G |
possibly damaging |
Het |
| Or4d11 |
G |
A |
19: 12,013,305 (GRCm39) |
T267I |
probably benign |
Het |
| Or5h19 |
T |
C |
16: 58,856,269 (GRCm39) |
Y277C |
probably damaging |
Het |
| Pde6c |
G |
A |
19: 38,164,143 (GRCm39) |
E666K |
probably benign |
Het |
| Pth2r |
A |
T |
1: 65,427,884 (GRCm39) |
D519V |
probably benign |
Het |
| Reln |
A |
T |
5: 22,376,249 (GRCm39) |
I169N |
probably damaging |
Het |
| Shoc1 |
T |
C |
4: 59,047,870 (GRCm39) |
N1250D |
possibly damaging |
Het |
| Slc25a13 |
A |
G |
6: 6,042,739 (GRCm39) |
|
probably null |
Het |
| Smg1 |
A |
G |
7: 117,762,601 (GRCm39) |
|
probably benign |
Het |
| Sp1 |
A |
G |
15: 102,339,364 (GRCm39) |
E434G |
probably damaging |
Het |
| Vmn2r104 |
T |
A |
17: 20,263,055 (GRCm39) |
R135S |
probably benign |
Het |
| Zfhx4 |
C |
T |
3: 5,464,387 (GRCm39) |
T1515I |
probably damaging |
Het |
| Zfp280d |
A |
G |
9: 72,242,396 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Stt3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00481:Stt3b
|
APN |
9 |
115,080,915 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL00929:Stt3b
|
APN |
9 |
115,095,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01389:Stt3b
|
APN |
9 |
115,082,968 (GRCm39) |
missense |
probably benign |
|
|
IGL01680:Stt3b
|
APN |
9 |
115,075,329 (GRCm39) |
splice site |
probably benign |
|
|
IGL01980:Stt3b
|
APN |
9 |
115,105,767 (GRCm39) |
splice site |
probably null |
|
|
IGL02351:Stt3b
|
APN |
9 |
115,079,975 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02358:Stt3b
|
APN |
9 |
115,079,975 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02421:Stt3b
|
APN |
9 |
115,080,920 (GRCm39) |
splice site |
probably benign |
|
|
IGL02602:Stt3b
|
APN |
9 |
115,105,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03231:Stt3b
|
APN |
9 |
115,073,062 (GRCm39) |
missense |
unknown |
|
|
supersonic
|
UTSW |
9 |
115,083,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0482:Stt3b
|
UTSW |
9 |
115,077,635 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1221:Stt3b
|
UTSW |
9 |
115,086,567 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1437:Stt3b
|
UTSW |
9 |
115,083,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1477:Stt3b
|
UTSW |
9 |
115,095,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1604:Stt3b
|
UTSW |
9 |
115,079,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1796:Stt3b
|
UTSW |
9 |
115,077,675 (GRCm39) |
nonsense |
probably null |
|
|
R4112:Stt3b
|
UTSW |
9 |
115,095,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4166:Stt3b
|
UTSW |
9 |
115,083,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4695:Stt3b
|
UTSW |
9 |
115,083,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5183:Stt3b
|
UTSW |
9 |
115,095,211 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5317:Stt3b
|
UTSW |
9 |
115,081,578 (GRCm39) |
nonsense |
probably null |
|
|
R5631:Stt3b
|
UTSW |
9 |
115,083,913 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5665:Stt3b
|
UTSW |
9 |
115,095,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6495:Stt3b
|
UTSW |
9 |
115,096,388 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6517:Stt3b
|
UTSW |
9 |
115,096,410 (GRCm39) |
missense |
probably benign |
|
|
R6525:Stt3b
|
UTSW |
9 |
115,087,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6593:Stt3b
|
UTSW |
9 |
115,081,579 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7065:Stt3b
|
UTSW |
9 |
115,095,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7071:Stt3b
|
UTSW |
9 |
115,083,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7297:Stt3b
|
UTSW |
9 |
115,106,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7313:Stt3b
|
UTSW |
9 |
115,095,183 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7554:Stt3b
|
UTSW |
9 |
115,109,477 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7790:Stt3b
|
UTSW |
9 |
115,105,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7802:Stt3b
|
UTSW |
9 |
115,105,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8305:Stt3b
|
UTSW |
9 |
115,083,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8361:Stt3b
|
UTSW |
9 |
115,083,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8362:Stt3b
|
UTSW |
9 |
115,083,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8363:Stt3b
|
UTSW |
9 |
115,083,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8371:Stt3b
|
UTSW |
9 |
115,095,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8799:Stt3b
|
UTSW |
9 |
115,077,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8996:Stt3b
|
UTSW |
9 |
115,073,065 (GRCm39) |
missense |
unknown |
|
|
R9215:Stt3b
|
UTSW |
9 |
115,085,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation