Incidental Mutation 'IGL03295:Stt3a'
| ID |
416065 |
| 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 # |
IGL03295
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
36640640-36678918 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 36674627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120381]
[ENSMUST00000128270]
[ENSMUST00000133060]
[ENSMUST00000217599]
|
| AlphaFold |
P46978 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000120381
|
| SMART Domains |
Protein: ENSMUSP00000113116
Gene: ENSMUSG00000032116
| 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 null
Transcript: ENSMUST00000133060
|
| SMART Domains |
Protein: ENSMUSP00000120360
Gene: ENSMUSG00000032116
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:STT3
|
17 |
90 |
1.8e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137994
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138358
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143881
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180474
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215998
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000217599
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
T |
5: 99,390,915 (GRCm39) |
|
probably benign |
Het |
| Adamts5 |
T |
C |
16: 85,674,833 (GRCm39) |
T444A |
probably damaging |
Het |
| Aldh18a1 |
T |
C |
19: 40,551,386 (GRCm39) |
E522G |
probably damaging |
Het |
| Bbx |
T |
C |
16: 50,044,927 (GRCm39) |
T437A |
probably damaging |
Het |
| Bsx |
A |
G |
9: 40,785,743 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,977,769 (GRCm39) |
N729S |
probably benign |
Het |
| Cdk1 |
G |
T |
10: 69,178,373 (GRCm39) |
H162Q |
possibly damaging |
Het |
| Chrac1 |
A |
G |
15: 72,965,445 (GRCm39) |
|
probably benign |
Het |
| Cip2a |
T |
C |
16: 48,814,704 (GRCm39) |
S22P |
probably damaging |
Het |
| Ddx60 |
A |
T |
8: 62,409,155 (GRCm39) |
D397V |
possibly damaging |
Het |
| Edn2 |
T |
A |
4: 120,019,178 (GRCm39) |
C56S |
probably damaging |
Het |
| Gm4952 |
T |
C |
19: 12,595,691 (GRCm39) |
V27A |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,303,985 (GRCm39) |
S763T |
possibly damaging |
Het |
| Hspd1 |
G |
A |
1: 55,119,334 (GRCm39) |
T381I |
probably benign |
Het |
| Krt1c |
T |
A |
15: 101,724,864 (GRCm39) |
I249F |
probably damaging |
Het |
| Lman2l |
T |
C |
1: 36,477,892 (GRCm39) |
D148G |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 40,568,999 (GRCm39) |
|
probably null |
Het |
| Mier3 |
C |
A |
13: 111,840,215 (GRCm39) |
T51K |
probably benign |
Het |
| Ppp1r36 |
C |
T |
12: 76,485,192 (GRCm39) |
P305L |
probably damaging |
Het |
| Pramel27 |
G |
A |
4: 143,579,759 (GRCm39) |
C448Y |
probably damaging |
Het |
| Prdm1 |
T |
C |
10: 44,315,866 (GRCm39) |
I790V |
probably damaging |
Het |
| Sephs2 |
T |
C |
7: 126,871,941 (GRCm39) |
E384G |
possibly damaging |
Het |
| Sipa1l1 |
T |
A |
12: 82,479,714 (GRCm39) |
W1466R |
probably damaging |
Het |
| Snai2 |
T |
C |
16: 14,524,638 (GRCm39) |
L48P |
possibly damaging |
Het |
| Synj1 |
T |
A |
16: 90,735,318 (GRCm39) |
N1545I |
probably benign |
Het |
| Vav2 |
A |
T |
2: 27,165,041 (GRCm39) |
S607T |
possibly damaging |
Het |
| Wdr27 |
T |
C |
17: 15,154,837 (GRCm39) |
K27E |
possibly damaging |
Het |
| Xcl1 |
A |
T |
1: 164,763,004 (GRCm39) |
V19E |
unknown |
Het |
| Xlr3c |
A |
T |
X: 72,301,240 (GRCm39) |
|
probably null |
Het |
| Zbtb44 |
T |
A |
9: 30,964,753 (GRCm39) |
D54E |
probably benign |
Het |
| Zscan21 |
A |
G |
5: 138,123,540 (GRCm39) |
D73G |
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 |
|
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 |
2016-08-02 |
Incidental Mutation