Incidental Mutation 'R6593:Stt3b'
| ID |
523478 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stt3b
|
| Ensembl Gene |
ENSMUSG00000032437 |
| Gene Name |
STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae) |
| Synonyms |
1300006C19Rik, Simp |
| MMRRC Submission |
044717-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.807)
|
| Stock # |
R6593 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
115071649-115139489 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 115081579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 569
(Y569C)
|
| 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: Y569C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000035010
Gene: ENSMUSG00000032437
AA Change: Y569C
| 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 |
- 1x: 99.8%
- 3x: 99.2%
- 10x: 96.6%
- 20x: 89.6%
|
| Validation Efficiency |
100% (37/37) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
C |
A |
5: 8,903,491 (GRCm39) |
N1047K |
probably benign |
Het |
| AI597479 |
C |
A |
1: 43,150,408 (GRCm39) |
Q173K |
probably damaging |
Het |
| Arhgef10 |
T |
C |
8: 15,012,522 (GRCm39) |
L282P |
probably damaging |
Het |
| Arhgef10 |
T |
C |
8: 15,012,564 (GRCm39) |
I296T |
possibly damaging |
Het |
| Atg2b |
A |
G |
12: 105,611,107 (GRCm39) |
S1275P |
probably damaging |
Het |
| Cep290 |
T |
C |
10: 100,344,638 (GRCm39) |
M485T |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,514,338 (GRCm39) |
|
probably null |
Het |
| Clcn6 |
C |
T |
4: 148,095,226 (GRCm39) |
S731N |
probably benign |
Het |
| Clic6 |
A |
G |
16: 92,325,005 (GRCm39) |
I388V |
possibly damaging |
Het |
| Cpsf4l |
G |
T |
11: 113,600,192 (GRCm39) |
|
probably benign |
Het |
| Dlg5 |
G |
A |
14: 24,200,720 (GRCm39) |
H1350Y |
probably benign |
Het |
| Dnase2b |
T |
C |
3: 146,292,666 (GRCm39) |
Y169C |
probably damaging |
Het |
| Elavl3 |
C |
T |
9: 21,929,843 (GRCm39) |
V354M |
possibly damaging |
Het |
| Farp2 |
A |
C |
1: 93,497,662 (GRCm39) |
I231L |
possibly damaging |
Het |
| Gcc2 |
T |
A |
10: 58,107,329 (GRCm39) |
M755K |
probably damaging |
Het |
| Gpr88 |
T |
C |
3: 116,046,273 (GRCm39) |
T13A |
unknown |
Het |
| Gstm3 |
T |
A |
3: 107,875,511 (GRCm39) |
N40Y |
probably benign |
Het |
| Krtap5-2 |
A |
T |
7: 141,728,697 (GRCm39) |
C328S |
unknown |
Het |
| Lpar1 |
A |
T |
4: 58,486,605 (GRCm39) |
V222E |
probably damaging |
Het |
| Neto2 |
A |
G |
8: 86,396,175 (GRCm39) |
S192P |
probably damaging |
Het |
| Odad1 |
T |
A |
7: 45,596,808 (GRCm39) |
D378E |
probably damaging |
Het |
| Or52n3 |
C |
T |
7: 104,530,640 (GRCm39) |
T242I |
probably damaging |
Het |
| Pcdhgb1 |
G |
T |
18: 37,815,134 (GRCm39) |
D542Y |
probably damaging |
Het |
| Phldb2 |
G |
A |
16: 45,645,790 (GRCm39) |
Q264* |
probably null |
Het |
| Ptgs2 |
G |
A |
1: 149,976,784 (GRCm39) |
D6N |
possibly damaging |
Het |
| Rasef |
G |
T |
4: 73,663,327 (GRCm39) |
H167N |
probably damaging |
Het |
| Rbbp4 |
A |
G |
4: 129,216,168 (GRCm39) |
L193S |
probably damaging |
Het |
| Rigi |
T |
C |
4: 40,226,651 (GRCm39) |
I169V |
probably benign |
Het |
| Sec24d |
T |
C |
3: 123,147,061 (GRCm39) |
F673S |
probably damaging |
Het |
| Slc9b1 |
T |
C |
3: 135,063,219 (GRCm39) |
M1T |
probably null |
Het |
| Stra6 |
A |
G |
9: 58,059,262 (GRCm39) |
T542A |
probably benign |
Het |
| Traf3ip1 |
A |
G |
1: 91,455,417 (GRCm39) |
K626R |
possibly damaging |
Het |
| Washc2 |
T |
A |
6: 116,236,210 (GRCm39) |
I1227N |
probably damaging |
Het |
| Xpo7 |
G |
A |
14: 70,919,802 (GRCm39) |
A671V |
probably damaging |
Het |
| Zfp799 |
A |
G |
17: 33,038,764 (GRCm39) |
Y501H |
probably damaging |
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 |
|
IGL01333:Stt3b
|
APN |
9 |
115,086,612 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACTAGTTCTTGCTACCCATCCTG -3'
(R):5'- GCTTGCTCTGCATCTTCAGG -3'
Sequencing Primer
(F):5'- TCCTGAAGGATGGGGCAAG -3'
(R):5'- TGCATCTTCAGGCAGGTAAAGTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation