Incidental Mutation 'R2317:Stt3a'
| ID |
245526 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stt3a
|
| Ensembl Gene |
ENSMUSG00000032116 |
| Gene Name |
STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) |
| Synonyms |
Itm1 |
| MMRRC Submission |
040312-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R2317 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
36640640-36678918 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36659371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 323
(I323V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120381]
[ENSMUST00000128270]
|
| AlphaFold |
P46978 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120381
AA Change: I323V
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000113116
Gene: ENSMUSG00000032116
AA Change: I323V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:STT3
|
17 |
484 |
2e-163 |
PFAM |
|
Pfam:PMT_2
|
97 |
257 |
9.3e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128270
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135934
|
| SMART Domains |
Protein: ENSMUSP00000117794
Gene: ENSMUSG00000032116
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:STT3
|
1 |
112 |
1.8e-45 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215998
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
| 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 the N-oligosaccharyltransferase (OST) complex, which functions in the endoplasmic reticulum to transfer glycan chains to asparagine residues of target proteins. A separate complex containing a similar catalytic subunit with an overlapping function also exists. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc102a |
T |
C |
8: 95,634,957 (GRCm39) |
D327G |
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Cfap126 |
A |
G |
1: 170,953,700 (GRCm39) |
D134G |
possibly damaging |
Het |
| Cript |
T |
C |
17: 87,335,139 (GRCm39) |
L19P |
probably benign |
Het |
| Cwf19l1 |
A |
C |
19: 44,120,597 (GRCm39) |
L39V |
possibly damaging |
Het |
| Eif2b4 |
T |
C |
5: 31,348,920 (GRCm39) |
|
probably null |
Het |
| Esp16 |
A |
G |
17: 39,850,738 (GRCm39) |
N39S |
probably benign |
Het |
| Fbxo30 |
A |
G |
10: 11,166,078 (GRCm39) |
N267D |
probably damaging |
Het |
| Gabra6 |
T |
C |
11: 42,208,607 (GRCm39) |
|
probably null |
Het |
| Gp1ba |
A |
G |
11: 70,531,473 (GRCm39) |
|
probably benign |
Het |
| Klf12 |
C |
T |
14: 100,179,503 (GRCm39) |
R279Q |
probably benign |
Het |
| Lats1 |
C |
T |
10: 7,567,540 (GRCm39) |
Q104* |
probably null |
Het |
| Myrfl |
A |
G |
10: 116,675,289 (GRCm39) |
Y215H |
possibly damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,325,189 (GRCm39) |
I963T |
probably damaging |
Het |
| Neurod6 |
A |
G |
6: 55,655,906 (GRCm39) |
Y244H |
probably damaging |
Het |
| Nodal |
T |
C |
10: 61,254,212 (GRCm39) |
M45T |
possibly damaging |
Het |
| Nuggc |
A |
G |
14: 65,861,591 (GRCm39) |
E479G |
possibly damaging |
Het |
| Pdcd6ip |
T |
C |
9: 113,501,842 (GRCm39) |
D467G |
probably benign |
Het |
| Pnmt |
C |
A |
11: 98,277,677 (GRCm39) |
Q74K |
probably benign |
Het |
| Slc25a36 |
G |
A |
9: 96,961,235 (GRCm39) |
T267I |
probably damaging |
Het |
| Slc35e3 |
A |
G |
10: 117,580,804 (GRCm39) |
S167P |
probably damaging |
Het |
| Sprr2f |
C |
A |
3: 92,273,390 (GRCm39) |
P63H |
unknown |
Het |
| Tedc2 |
A |
G |
17: 24,435,358 (GRCm39) |
S344P |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,245,514 (GRCm39) |
D3722G |
probably damaging |
Het |
| Zfp35 |
T |
C |
18: 24,136,555 (GRCm39) |
Y300H |
probably damaging |
Het |
| Zfp959 |
A |
G |
17: 56,204,326 (GRCm39) |
D121G |
possibly damaging |
Het |
|
| Other mutations in Stt3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01866:Stt3a
|
APN |
9 |
36,645,662 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02237:Stt3a
|
APN |
9 |
36,660,933 (GRCm39) |
nonsense |
probably null |
|
|
IGL02644:Stt3a
|
APN |
9 |
36,663,649 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02710:Stt3a
|
APN |
9 |
36,670,041 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03085:Stt3a
|
APN |
9 |
36,644,266 (GRCm39) |
intron |
probably benign |
|
|
IGL03180:Stt3a
|
APN |
9 |
36,670,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03295:Stt3a
|
APN |
9 |
36,674,627 (GRCm39) |
splice site |
probably null |
|
|
Scramble
|
UTSW |
9 |
36,646,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Western
|
UTSW |
9 |
36,646,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0314:Stt3a
|
UTSW |
9 |
36,660,841 (GRCm39) |
intron |
probably benign |
|
|
R0731:Stt3a
|
UTSW |
9 |
36,646,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1188:Stt3a
|
UTSW |
9 |
36,662,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1797:Stt3a
|
UTSW |
9 |
36,654,711 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1846:Stt3a
|
UTSW |
9 |
36,674,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2152:Stt3a
|
UTSW |
9 |
36,659,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2220:Stt3a
|
UTSW |
9 |
36,660,847 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3689:Stt3a
|
UTSW |
9 |
36,670,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4299:Stt3a
|
UTSW |
9 |
36,674,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4586:Stt3a
|
UTSW |
9 |
36,653,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4595:Stt3a
|
UTSW |
9 |
36,646,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4689:Stt3a
|
UTSW |
9 |
36,644,225 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4736:Stt3a
|
UTSW |
9 |
36,661,008 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5145:Stt3a
|
UTSW |
9 |
36,646,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5208:Stt3a
|
UTSW |
9 |
36,657,891 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5665:Stt3a
|
UTSW |
9 |
36,670,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5748:Stt3a
|
UTSW |
9 |
36,663,696 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6341:Stt3a
|
UTSW |
9 |
36,662,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6853:Stt3a
|
UTSW |
9 |
36,653,023 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6859:Stt3a
|
UTSW |
9 |
36,646,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7453:Stt3a
|
UTSW |
9 |
36,659,266 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7495:Stt3a
|
UTSW |
9 |
36,659,235 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7745:Stt3a
|
UTSW |
9 |
36,662,535 (GRCm39) |
nonsense |
probably null |
|
|
R8007:Stt3a
|
UTSW |
9 |
36,653,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9176:Stt3a
|
UTSW |
9 |
36,662,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9218:Stt3a
|
UTSW |
9 |
36,670,556 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9552:Stt3a
|
UTSW |
9 |
36,645,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9622:Stt3a
|
UTSW |
9 |
36,661,025 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9784:Stt3a
|
UTSW |
9 |
36,670,079 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCAAAATGCAAGACAGACCTGG -3'
(R):5'- AGTCTGGAATATAAAGCGTGGC -3'
Sequencing Primer
(F):5'- TGCAAGACAGACCTGGAAACATG -3'
(R):5'- AGGGAACTCCTGCTTCAGACATG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation