Incidental Mutation 'IGL03180:Stt3a'
| ID |
412180 |
| 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: 0.959)
|
| Stock # |
IGL03180
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
36640640-36678918 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36670552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 73
(D73G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120360
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120381]
[ENSMUST00000128270]
[ENSMUST00000133060]
[ENSMUST00000217599]
|
| AlphaFold |
P46978 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120381
AA Change: D73G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113116
Gene: ENSMUSG00000032116
AA Change: D73G
| 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 damaging
Transcript: ENSMUST00000133060
AA Change: D73G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120360
Gene: ENSMUSG00000032116
AA Change: D73G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:STT3
|
17 |
90 |
1.8e-26 |
PFAM |
|
| 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: ENSMUST00000137994
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138358
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143881
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217599
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp6 |
T |
C |
3: 97,082,951 (GRCm39) |
Y321H |
probably benign |
Het |
| Adam28 |
T |
A |
14: 68,874,883 (GRCm39) |
I265L |
probably damaging |
Het |
| Adcy8 |
T |
C |
15: 64,655,799 (GRCm39) |
D560G |
possibly damaging |
Het |
| Aff3 |
A |
G |
1: 38,574,743 (GRCm39) |
M79T |
probably damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,602,895 (GRCm39) |
|
probably null |
Het |
| Aspn |
C |
T |
13: 49,716,991 (GRCm39) |
R256W |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,966,226 (GRCm39) |
V4051A |
probably benign |
Het |
| Cfap46 |
G |
A |
7: 139,183,168 (GRCm39) |
L2584F |
unknown |
Het |
| Chdh |
T |
A |
14: 29,756,559 (GRCm39) |
|
probably null |
Het |
| Clasp1 |
A |
G |
1: 118,433,255 (GRCm39) |
T245A |
probably benign |
Het |
| Clec4a1 |
G |
A |
6: 122,901,777 (GRCm39) |
V70I |
probably benign |
Het |
| Cpt2 |
A |
T |
4: 107,764,157 (GRCm39) |
S536T |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 65,777,465 (GRCm39) |
H3694Q |
probably damaging |
Het |
| Dntt |
T |
A |
19: 41,017,990 (GRCm39) |
F38Y |
probably benign |
Het |
| Dync2i1 |
T |
C |
12: 116,182,485 (GRCm39) |
S706G |
probably benign |
Het |
| Eif4ebp2 |
T |
C |
10: 61,269,589 (GRCm39) |
E117G |
probably damaging |
Het |
| Eif5b |
T |
C |
1: 38,075,350 (GRCm39) |
I609T |
probably damaging |
Het |
| Esam |
G |
A |
9: 37,445,866 (GRCm39) |
G135S |
probably damaging |
Het |
| Fut7 |
C |
A |
2: 25,315,465 (GRCm39) |
A241D |
possibly damaging |
Het |
| Grin2d |
T |
A |
7: 45,502,753 (GRCm39) |
K706M |
probably damaging |
Het |
| Grip2 |
A |
G |
6: 91,762,742 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird2 |
A |
G |
5: 134,220,087 (GRCm39) |
T22A |
probably damaging |
Het |
| Hadh |
T |
C |
3: 131,065,533 (GRCm39) |
I42V |
probably benign |
Het |
| Iqsec3 |
T |
A |
6: 121,390,467 (GRCm39) |
|
probably benign |
Het |
| Izumo3 |
G |
A |
4: 92,034,524 (GRCm39) |
|
probably benign |
Het |
| Ldlrad1 |
G |
T |
4: 107,075,032 (GRCm39) |
C193F |
probably damaging |
Het |
| Lgals4 |
G |
A |
7: 28,537,053 (GRCm39) |
G118R |
probably damaging |
Het |
| Map4k1 |
A |
C |
7: 28,687,510 (GRCm39) |
E136A |
probably damaging |
Het |
| Mapk8ip1 |
G |
T |
2: 92,217,257 (GRCm39) |
P346Q |
possibly damaging |
Het |
| Mrtfb |
A |
G |
16: 13,216,196 (GRCm39) |
K303E |
probably damaging |
Het |
| Nlrp14 |
T |
A |
7: 106,781,833 (GRCm39) |
H343Q |
probably benign |
Het |
| Ogg1 |
T |
G |
6: 113,310,455 (GRCm39) |
|
probably null |
Het |
| Or12k8 |
C |
T |
2: 36,975,722 (GRCm39) |
V13M |
possibly damaging |
Het |
| Or5m10 |
A |
T |
2: 85,717,740 (GRCm39) |
M199L |
probably benign |
Het |
| Pacc1 |
G |
T |
1: 191,071,089 (GRCm39) |
V82F |
probably damaging |
Het |
| Pafah1b1 |
A |
T |
11: 74,574,344 (GRCm39) |
C281S |
possibly damaging |
Het |
| Papss1 |
C |
T |
3: 131,313,143 (GRCm39) |
R386W |
probably damaging |
Het |
| Pex5 |
A |
G |
6: 124,390,522 (GRCm39) |
|
probably benign |
Het |
| Pibf1 |
C |
A |
14: 99,370,780 (GRCm39) |
Q261K |
probably benign |
Het |
| Plcb3 |
T |
C |
19: 6,933,521 (GRCm39) |
S935G |
probably benign |
Het |
| Polg |
A |
G |
7: 79,101,601 (GRCm39) |
|
probably benign |
Het |
| Ptpdc1 |
G |
A |
13: 48,739,553 (GRCm39) |
T626I |
probably damaging |
Het |
| Rab34 |
A |
T |
11: 78,081,144 (GRCm39) |
Y87F |
probably damaging |
Het |
| Rsrc1 |
T |
G |
3: 66,989,876 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,583,449 (GRCm39) |
N4735S |
possibly damaging |
Het |
| Scn7a |
T |
C |
2: 66,506,578 (GRCm39) |
D1437G |
possibly damaging |
Het |
| Sdk1 |
A |
G |
5: 142,071,497 (GRCm39) |
E1229G |
probably damaging |
Het |
| Sez6l |
A |
T |
5: 112,584,151 (GRCm39) |
V806D |
probably damaging |
Het |
| Sgsm2 |
A |
C |
11: 74,759,401 (GRCm39) |
|
probably null |
Het |
| Sla |
A |
G |
15: 66,661,569 (GRCm39) |
I121T |
probably benign |
Het |
| Son |
T |
C |
16: 91,453,896 (GRCm39) |
L881S |
probably damaging |
Het |
| Srms |
A |
G |
2: 180,854,573 (GRCm39) |
|
probably benign |
Het |
| Stoml1 |
T |
C |
9: 58,168,200 (GRCm39) |
S304P |
probably damaging |
Het |
| Tpp1 |
T |
C |
7: 105,395,856 (GRCm39) |
T558A |
probably benign |
Het |
| Trp53i13 |
T |
C |
11: 77,403,528 (GRCm39) |
|
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,450,843 (GRCm39) |
Y243C |
possibly damaging |
Het |
| Vwde |
T |
C |
6: 13,205,764 (GRCm39) |
D261G |
probably damaging |
Het |
| Zfpm2 |
A |
G |
15: 40,964,790 (GRCm39) |
K293R |
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 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation