Incidental Mutation 'IGL02237:Stt3a'
ID |
285938 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Stt3a
|
Ensembl Gene |
ENSMUSG00000032116 |
Gene Name |
STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) |
Synonyms |
Itm1 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
IGL02237
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
36640640-36678918 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 36660933 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 293
(Q293*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113116
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120381]
[ENSMUST00000128270]
|
AlphaFold |
P46978 |
Predicted Effect |
probably null
Transcript: ENSMUST00000120381
AA Change: Q293*
|
SMART Domains |
Protein: ENSMUSP00000113116 Gene: ENSMUSG00000032116 AA Change: Q293*
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 |
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd16b |
T |
A |
2: 181,135,350 (GRCm39) |
V84E |
probably benign |
Het |
Adam39 |
A |
T |
8: 41,278,482 (GRCm39) |
E291V |
probably benign |
Het |
Ak5 |
T |
A |
3: 152,204,980 (GRCm39) |
D372V |
probably benign |
Het |
Brpf1 |
C |
T |
6: 113,287,336 (GRCm39) |
P188L |
probably damaging |
Het |
Cacna2d3 |
C |
T |
14: 29,068,954 (GRCm39) |
V258I |
probably benign |
Het |
Cd14 |
A |
G |
18: 36,858,912 (GRCm39) |
F181S |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cts6 |
A |
T |
13: 61,345,313 (GRCm39) |
D261E |
probably benign |
Het |
Daam1 |
A |
G |
12: 72,029,495 (GRCm39) |
T897A |
probably benign |
Het |
Ddx25 |
T |
A |
9: 35,453,365 (GRCm39) |
|
probably benign |
Het |
Ddx55 |
A |
G |
5: 124,705,958 (GRCm39) |
E461G |
probably damaging |
Het |
Degs1 |
T |
C |
1: 182,107,253 (GRCm39) |
K2R |
probably damaging |
Het |
Drc7 |
C |
T |
8: 95,799,507 (GRCm39) |
L561F |
probably damaging |
Het |
Eif4enif1 |
A |
T |
11: 3,177,876 (GRCm39) |
K423* |
probably null |
Het |
Epha7 |
A |
G |
4: 28,949,325 (GRCm39) |
|
probably null |
Het |
Erich5 |
A |
C |
15: 34,471,482 (GRCm39) |
E237A |
probably benign |
Het |
Ficd |
A |
G |
5: 113,876,373 (GRCm39) |
T183A |
probably damaging |
Het |
Foxb2 |
T |
C |
19: 16,850,908 (GRCm39) |
M33V |
unknown |
Het |
Gja8 |
T |
G |
3: 96,827,249 (GRCm39) |
S138R |
probably benign |
Het |
Gm28042 |
T |
G |
2: 119,870,380 (GRCm39) |
L743V |
possibly damaging |
Het |
Gtf3c2 |
A |
T |
5: 31,316,397 (GRCm39) |
|
probably benign |
Het |
Itga11 |
T |
C |
9: 62,663,057 (GRCm39) |
|
probably null |
Het |
Kazn |
A |
T |
4: 141,874,410 (GRCm39) |
D315E |
probably benign |
Het |
Kbtbd2 |
A |
T |
6: 56,756,033 (GRCm39) |
S568T |
possibly damaging |
Het |
Man1c1 |
A |
C |
4: 134,311,609 (GRCm39) |
|
probably null |
Het |
Myh9 |
A |
G |
15: 77,670,854 (GRCm39) |
S463P |
probably benign |
Het |
Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
Oog2 |
T |
A |
4: 143,923,016 (GRCm39) |
F427Y |
possibly damaging |
Het |
Pcmtd1 |
T |
C |
1: 7,233,601 (GRCm39) |
|
probably null |
Het |
Pcnt |
C |
A |
10: 76,188,818 (GRCm39) |
D2861Y |
probably damaging |
Het |
Pdzd7 |
C |
T |
19: 45,028,697 (GRCm39) |
A149T |
probably damaging |
Het |
Pebp4 |
A |
T |
14: 70,297,105 (GRCm39) |
T215S |
possibly damaging |
Het |
Pgm1 |
T |
C |
4: 99,820,707 (GRCm39) |
|
probably benign |
Het |
Plekhh2 |
T |
A |
17: 84,883,213 (GRCm39) |
D760E |
probably benign |
Het |
Pomt1 |
T |
C |
2: 32,135,689 (GRCm39) |
I351T |
probably benign |
Het |
Ptpn21 |
C |
T |
12: 98,671,351 (GRCm39) |
|
probably null |
Het |
Rsad2 |
T |
G |
12: 26,506,186 (GRCm39) |
Y78S |
probably damaging |
Het |
Rsbn1l |
A |
T |
5: 21,124,604 (GRCm39) |
N399K |
probably benign |
Het |
Sec31a |
A |
G |
5: 100,509,914 (GRCm39) |
V1191A |
probably damaging |
Het |
Sema6c |
C |
T |
3: 95,077,430 (GRCm39) |
P414L |
probably damaging |
Het |
Serpinb5 |
T |
C |
1: 106,808,056 (GRCm39) |
S69P |
probably benign |
Het |
Slc25a13 |
C |
T |
6: 6,042,646 (GRCm39) |
R586H |
probably damaging |
Het |
Spink5 |
T |
A |
18: 44,145,934 (GRCm39) |
M776K |
probably benign |
Het |
Srcap |
A |
G |
7: 127,133,864 (GRCm39) |
|
probably benign |
Het |
Syne4 |
T |
A |
7: 30,015,988 (GRCm39) |
|
probably null |
Het |
Tomm40l |
C |
T |
1: 171,048,463 (GRCm39) |
V97M |
possibly damaging |
Het |
Trpc4 |
C |
T |
3: 54,129,783 (GRCm39) |
S183F |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,716,478 (GRCm39) |
|
probably benign |
Het |
Ufl1 |
A |
C |
4: 25,269,082 (GRCm39) |
S170A |
probably benign |
Het |
Vmn2r66 |
G |
A |
7: 84,643,908 (GRCm39) |
T834I |
probably benign |
Het |
Vmn2r75 |
A |
G |
7: 85,814,786 (GRCm39) |
S236P |
possibly damaging |
Het |
Zfp345 |
A |
T |
2: 150,316,805 (GRCm39) |
|
probably benign |
Het |
Zfp955b |
T |
C |
17: 33,520,893 (GRCm39) |
S121P |
probably 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 |
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 |
|
R2317:Stt3a
|
UTSW |
9 |
36,659,371 (GRCm39) |
missense |
probably benign |
0.08 |
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 |
|
Posted On |
2015-04-16 |