Incidental Mutation 'R3689:Stt3a'
| ID |
269673 |
| 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 |
040684-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R3689 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
36640640-36678918 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36670618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 51
(Y51C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120381]
[ENSMUST00000128270]
[ENSMUST00000133060]
[ENSMUST00000217599]
|
| AlphaFold |
P46978 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120381
AA Change: Y51C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113116
Gene: ENSMUSG00000032116
AA Change: Y51C
| 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: Y51C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120360
Gene: ENSMUSG00000032116
AA Change: Y51C
| 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
|
| Meta Mutation Damage Score |
0.9564 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (53/53) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
A |
T |
13: 68,779,088 (GRCm39) |
L984Q |
probably damaging |
Het |
| Atg16l1 |
T |
C |
1: 87,713,626 (GRCm39) |
V427A |
probably damaging |
Het |
| Bclaf1 |
C |
T |
10: 20,201,143 (GRCm39) |
T423I |
possibly damaging |
Het |
| Blm |
G |
C |
7: 80,162,827 (GRCm39) |
P175A |
possibly damaging |
Het |
| Bpifb1 |
A |
G |
2: 154,051,819 (GRCm39) |
D208G |
probably benign |
Het |
| Cdc42ep1 |
T |
C |
15: 78,731,629 (GRCm39) |
S25P |
probably benign |
Het |
| Cep162 |
G |
A |
9: 87,107,747 (GRCm39) |
Q548* |
probably null |
Het |
| Chchd10 |
T |
C |
10: 75,771,835 (GRCm39) |
|
probably benign |
Het |
| Cog3 |
T |
C |
14: 75,991,878 (GRCm39) |
M1V |
probably null |
Het |
| Dcx |
T |
C |
X: 142,660,240 (GRCm39) |
E268G |
possibly damaging |
Het |
| Erich2 |
T |
C |
2: 70,371,097 (GRCm39) |
V419A |
unknown |
Het |
| Fam53c |
A |
G |
18: 34,903,886 (GRCm39) |
D386G |
probably damaging |
Het |
| Fgd2 |
A |
G |
17: 29,597,924 (GRCm39) |
T620A |
probably benign |
Het |
| G930045G22Rik |
A |
T |
6: 50,823,535 (GRCm39) |
|
noncoding transcript |
Het |
| Grpel1 |
G |
A |
5: 36,626,769 (GRCm39) |
|
probably null |
Het |
| Map3k15 |
T |
A |
X: 158,905,568 (GRCm39) |
N1295K |
possibly damaging |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Mrpl44 |
T |
A |
1: 79,757,366 (GRCm39) |
Y270* |
probably null |
Het |
| Mtss1 |
A |
G |
15: 58,825,385 (GRCm39) |
S272P |
probably damaging |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| N4bp1 |
C |
T |
8: 87,587,184 (GRCm39) |
D585N |
probably damaging |
Het |
| Napb |
T |
C |
2: 148,544,977 (GRCm39) |
|
probably null |
Het |
| Nexmif |
A |
T |
X: 103,131,213 (GRCm39) |
Y235N |
probably damaging |
Het |
| Niban1 |
A |
G |
1: 151,579,447 (GRCm39) |
|
probably null |
Het |
| Nms |
T |
C |
1: 38,986,075 (GRCm39) |
|
probably benign |
Het |
| Nsun2 |
A |
G |
13: 69,760,456 (GRCm39) |
N45D |
probably damaging |
Het |
| Or4c116 |
T |
A |
2: 88,942,386 (GRCm39) |
I157L |
possibly damaging |
Het |
| Pak6 |
C |
T |
2: 118,523,921 (GRCm39) |
Q359* |
probably null |
Het |
| Pcdhb12 |
C |
T |
18: 37,569,127 (GRCm39) |
A91V |
probably benign |
Het |
| Pde11a |
T |
A |
2: 76,121,510 (GRCm39) |
K357I |
probably damaging |
Het |
| Piwil4 |
T |
C |
9: 14,637,259 (GRCm39) |
T352A |
probably damaging |
Het |
| Plscr1l1 |
A |
C |
9: 92,234,673 (GRCm39) |
N60T |
probably damaging |
Het |
| Sec31a |
T |
A |
5: 100,530,766 (GRCm39) |
D239V |
probably damaging |
Het |
| Slc13a4 |
T |
C |
6: 35,245,845 (GRCm39) |
N600S |
possibly damaging |
Het |
| Smc1b |
T |
A |
15: 85,001,464 (GRCm39) |
|
probably benign |
Het |
| Spatc1 |
A |
T |
15: 76,152,495 (GRCm39) |
K42* |
probably null |
Het |
| Sprr2j-ps |
A |
G |
3: 92,326,290 (GRCm39) |
H55R |
probably benign |
Het |
| Srsf9 |
A |
G |
5: 115,465,387 (GRCm39) |
D7G |
probably benign |
Het |
| Taf5 |
A |
G |
19: 47,067,224 (GRCm39) |
K519E |
probably damaging |
Het |
| Taf7l |
A |
T |
X: 133,365,074 (GRCm39) |
I449K |
probably damaging |
Het |
| Tnk1 |
C |
A |
11: 69,746,425 (GRCm39) |
D263Y |
probably damaging |
Het |
| Ttc21b |
T |
A |
2: 66,054,488 (GRCm39) |
I714F |
probably benign |
Het |
| Ttn |
C |
G |
2: 76,629,588 (GRCm39) |
W14284C |
probably damaging |
Het |
| Txn1 |
T |
C |
4: 57,950,846 (GRCm39) |
D61G |
probably benign |
Het |
| Ugcg |
T |
C |
4: 59,211,883 (GRCm39) |
V83A |
probably benign |
Het |
| Ulk3 |
T |
C |
9: 57,501,077 (GRCm39) |
V348A |
probably benign |
Het |
| Wdr93 |
A |
G |
7: 79,421,333 (GRCm39) |
T409A |
possibly damaging |
Het |
| Wfikkn1 |
A |
G |
17: 26,097,692 (GRCm39) |
C211R |
probably damaging |
Het |
| Zap70 |
T |
C |
1: 36,820,493 (GRCm39) |
C563R |
probably damaging |
Het |
| Zc3h12c |
C |
T |
9: 52,027,256 (GRCm39) |
R721H |
probably benign |
Het |
| Zfp169 |
A |
G |
13: 48,660,377 (GRCm39) |
|
probably benign |
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 |
|
|
R2317:Stt3a
|
UTSW |
9 |
36,659,371 (GRCm39) |
missense |
probably benign |
0.08 |
|
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'- TTTCCTGAAGCAAACAGAAAGAGC -3'
(R):5'- CCTTCAGAGAAAAGCAGTGC -3'
Sequencing Primer
(F):5'- TGTTTCACAGCATACAAACACC -3'
(R):5'- GCAGTGCTGTAATTGATACAAGTG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation