Incidental Mutation 'R8361:Stt3b'
| ID |
645964 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stt3b
|
| Ensembl Gene |
ENSMUSG00000032437 |
| Gene Name |
STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae) |
| Synonyms |
1300006C19Rik, Simp |
| MMRRC Submission |
067735-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.833)
|
| Stock # |
R8361 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
115071649-115139489 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115083988 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 396
(I396T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035010]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035010
AA Change: I396T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035010
Gene: ENSMUSG00000032437
AA Change: I396T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
60 |
N/A |
INTRINSIC |
|
Pfam:STT3
|
68 |
560 |
2e-151 |
PFAM |
|
low complexity region
|
807 |
821 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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 a protein complex that transfers oligosaccharides onto asparagine residues. Defects in this gene are a cause of congenital disorder of glycosylation Ix (CDG1X). [provided by RefSeq, Jun 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
G |
5: 3,632,153 (GRCm39) |
N161S |
possibly damaging |
Het |
| Alg2 |
T |
C |
4: 47,471,848 (GRCm39) |
Y320C |
probably damaging |
Het |
| Aox4 |
A |
T |
1: 58,279,998 (GRCm39) |
E538V |
probably benign |
Het |
| Carmil1 |
A |
C |
13: 24,251,113 (GRCm39) |
|
probably null |
Het |
| Chrd |
T |
C |
16: 20,557,487 (GRCm39) |
F702S |
possibly damaging |
Het |
| Dhx36 |
A |
T |
3: 62,388,221 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
G |
T |
15: 28,331,956 (GRCm39) |
V2181L |
probably damaging |
Het |
| Dnajc11 |
C |
A |
4: 152,055,368 (GRCm39) |
R229S |
probably damaging |
Het |
| Eml3 |
A |
G |
19: 8,914,801 (GRCm39) |
N579D |
possibly damaging |
Het |
| Fam163b |
G |
A |
2: 27,002,650 (GRCm39) |
R116C |
probably benign |
Het |
| Fbxw2 |
A |
G |
2: 34,697,426 (GRCm39) |
C314R |
possibly damaging |
Het |
| Gm4847 |
T |
A |
1: 166,469,839 (GRCm39) |
H78L |
possibly damaging |
Het |
| Gtf2h3 |
T |
C |
5: 124,733,731 (GRCm39) |
V268A |
probably damaging |
Het |
| Hmbox1 |
T |
C |
14: 65,134,289 (GRCm39) |
S104G |
possibly damaging |
Het |
| Ighv1-36 |
T |
A |
12: 114,843,627 (GRCm39) |
S78C |
probably damaging |
Het |
| Lrriq3 |
G |
A |
3: 154,806,855 (GRCm39) |
W168* |
probably null |
Het |
| Mycbp2 |
A |
G |
14: 103,376,250 (GRCm39) |
F3981S |
probably damaging |
Het |
| Or10k2 |
A |
G |
8: 84,268,715 (GRCm39) |
H314R |
possibly damaging |
Het |
| Pias1 |
T |
C |
9: 62,826,668 (GRCm39) |
T265A |
possibly damaging |
Het |
| Rxfp3 |
C |
A |
15: 11,036,784 (GRCm39) |
R196L |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,483,475 (GRCm39) |
S4121P |
probably damaging |
Het |
| Safb2 |
T |
C |
17: 56,890,061 (GRCm39) |
E61G |
probably damaging |
Het |
| Sestd1 |
A |
T |
2: 77,017,572 (GRCm39) |
M665K |
probably benign |
Het |
| Slc3a1 |
C |
T |
17: 85,344,640 (GRCm39) |
R269* |
probably null |
Het |
| Smurf1 |
T |
A |
5: 144,820,506 (GRCm39) |
I521F |
probably damaging |
Het |
| Spink5 |
G |
T |
18: 44,122,529 (GRCm39) |
L331F |
probably damaging |
Het |
| Uso1 |
A |
G |
5: 92,337,121 (GRCm39) |
D635G |
probably null |
Het |
| Usp5 |
C |
T |
6: 124,801,948 (GRCm39) |
G102D |
probably damaging |
Het |
| Zfp616 |
A |
G |
11: 73,975,476 (GRCm39) |
R582G |
probably damaging |
Het |
| Zfp654 |
T |
C |
16: 64,612,220 (GRCm39) |
H222R |
probably damaging |
Het |
|
| Other mutations in Stt3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00481:Stt3b
|
APN |
9 |
115,080,915 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL00929:Stt3b
|
APN |
9 |
115,095,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01333:Stt3b
|
APN |
9 |
115,086,612 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01389:Stt3b
|
APN |
9 |
115,082,968 (GRCm39) |
missense |
probably benign |
|
|
IGL01680:Stt3b
|
APN |
9 |
115,075,329 (GRCm39) |
splice site |
probably benign |
|
|
IGL01980:Stt3b
|
APN |
9 |
115,105,767 (GRCm39) |
splice site |
probably null |
|
|
IGL02351:Stt3b
|
APN |
9 |
115,079,975 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02358:Stt3b
|
APN |
9 |
115,079,975 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02421:Stt3b
|
APN |
9 |
115,080,920 (GRCm39) |
splice site |
probably benign |
|
|
IGL02602:Stt3b
|
APN |
9 |
115,105,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03231:Stt3b
|
APN |
9 |
115,073,062 (GRCm39) |
missense |
unknown |
|
|
supersonic
|
UTSW |
9 |
115,083,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0482:Stt3b
|
UTSW |
9 |
115,077,635 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1221:Stt3b
|
UTSW |
9 |
115,086,567 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1437:Stt3b
|
UTSW |
9 |
115,083,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1477:Stt3b
|
UTSW |
9 |
115,095,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1604:Stt3b
|
UTSW |
9 |
115,079,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1796:Stt3b
|
UTSW |
9 |
115,077,675 (GRCm39) |
nonsense |
probably null |
|
|
R4112:Stt3b
|
UTSW |
9 |
115,095,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4166:Stt3b
|
UTSW |
9 |
115,083,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4695:Stt3b
|
UTSW |
9 |
115,083,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5183:Stt3b
|
UTSW |
9 |
115,095,211 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5317:Stt3b
|
UTSW |
9 |
115,081,578 (GRCm39) |
nonsense |
probably null |
|
|
R5631:Stt3b
|
UTSW |
9 |
115,083,913 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5665:Stt3b
|
UTSW |
9 |
115,095,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6495:Stt3b
|
UTSW |
9 |
115,096,388 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6517:Stt3b
|
UTSW |
9 |
115,096,410 (GRCm39) |
missense |
probably benign |
|
|
R6525:Stt3b
|
UTSW |
9 |
115,087,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6593:Stt3b
|
UTSW |
9 |
115,081,579 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7065:Stt3b
|
UTSW |
9 |
115,095,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7071:Stt3b
|
UTSW |
9 |
115,083,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7297:Stt3b
|
UTSW |
9 |
115,106,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7313:Stt3b
|
UTSW |
9 |
115,095,183 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7554:Stt3b
|
UTSW |
9 |
115,109,477 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7790:Stt3b
|
UTSW |
9 |
115,105,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7802:Stt3b
|
UTSW |
9 |
115,105,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8305:Stt3b
|
UTSW |
9 |
115,083,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8362:Stt3b
|
UTSW |
9 |
115,083,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8363:Stt3b
|
UTSW |
9 |
115,083,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8371:Stt3b
|
UTSW |
9 |
115,095,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8799:Stt3b
|
UTSW |
9 |
115,077,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8996:Stt3b
|
UTSW |
9 |
115,073,065 (GRCm39) |
missense |
unknown |
|
|
R9215:Stt3b
|
UTSW |
9 |
115,085,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATGGGCTGGACGTAAAG -3'
(R):5'- TGTGTCACTAGCTGCATCAG -3'
Sequencing Primer
(F):5'- ACAAAACATTAGAGTAATCTCAGTGG -3'
(R):5'- TCACTAGCTGCATCAGTTAAAAATAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation