Incidental Mutation 'IGL02602:Stt3b'
| ID |
300129 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stt3b
|
| Ensembl Gene |
ENSMUSG00000032437 |
| Gene Name |
STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae) |
| Synonyms |
1300006C19Rik, Simp |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.833)
|
| Stock # |
IGL02602
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
115071649-115139489 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 115105846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 210
(S210T)
|
| 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: S210T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035010
Gene: ENSMUSG00000032437
AA Change: S210T
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214793
|
| 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 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsf2 |
A |
G |
11: 94,461,291 (GRCm39) |
|
probably benign |
Het |
| Arhgap20 |
A |
T |
9: 51,737,143 (GRCm39) |
I148F |
probably damaging |
Het |
| Arhgef10 |
C |
T |
8: 14,980,198 (GRCm39) |
A146V |
probably benign |
Het |
| Cdk13 |
A |
G |
13: 17,901,745 (GRCm39) |
F997L |
probably damaging |
Het |
| Cep162 |
G |
A |
9: 87,128,206 (GRCm39) |
H170Y |
probably benign |
Het |
| Clasp1 |
T |
C |
1: 118,399,515 (GRCm39) |
F220L |
probably damaging |
Het |
| Clock |
C |
A |
5: 76,402,273 (GRCm39) |
G129V |
probably null |
Het |
| Clock |
C |
T |
5: 76,402,274 (GRCm39) |
G129R |
probably damaging |
Het |
| Cybrd1 |
T |
C |
2: 70,948,492 (GRCm39) |
L10P |
probably damaging |
Het |
| Cyp7a1 |
A |
G |
4: 6,272,871 (GRCm39) |
I114T |
possibly damaging |
Het |
| Epha7 |
T |
A |
4: 28,871,877 (GRCm39) |
V402D |
possibly damaging |
Het |
| Fam228a |
G |
A |
12: 4,782,808 (GRCm39) |
T95I |
probably benign |
Het |
| Gm7589 |
C |
T |
9: 59,053,441 (GRCm39) |
|
noncoding transcript |
Het |
| Klf4 |
C |
A |
4: 55,530,595 (GRCm39) |
R172L |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,248,956 (GRCm39) |
S7190P |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,762,365 (GRCm39) |
T1119A |
possibly damaging |
Het |
| Nmur2 |
T |
A |
11: 55,917,889 (GRCm39) |
T367S |
probably benign |
Het |
| Ogfr |
A |
G |
2: 180,237,230 (GRCm39) |
D605G |
possibly damaging |
Het |
| Or4f61 |
A |
G |
2: 111,922,906 (GRCm39) |
F47L |
probably benign |
Het |
| Pcdhb1 |
A |
T |
18: 37,399,849 (GRCm39) |
N600I |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,421,327 (GRCm39) |
S3032P |
probably damaging |
Het |
| Ppp2r5e |
A |
G |
12: 75,540,213 (GRCm39) |
L144P |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,569,397 (GRCm39) |
|
probably benign |
Het |
| Scarb2 |
A |
G |
5: 92,596,415 (GRCm39) |
Y410H |
probably benign |
Het |
| Slc12a1 |
A |
G |
2: 124,996,162 (GRCm39) |
Y105C |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Sulf2 |
T |
C |
2: 165,923,220 (GRCm39) |
H635R |
probably benign |
Het |
| Tmem167 |
C |
A |
13: 90,252,499 (GRCm39) |
R52S |
probably damaging |
Het |
| Tsga13 |
G |
A |
6: 30,879,212 (GRCm39) |
T167I |
possibly damaging |
Het |
| Txk |
T |
C |
5: 72,865,063 (GRCm39) |
R271G |
possibly damaging |
Het |
| Vmn1r191 |
T |
C |
13: 22,363,635 (GRCm39) |
K40E |
probably damaging |
Het |
| Vmn1r69 |
T |
A |
7: 10,313,901 (GRCm39) |
N277Y |
probably benign |
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 |
|
|
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 |
|
R8361:Stt3b
|
UTSW |
9 |
115,083,988 (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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation