Incidental Mutation 'R1221:Stt3b'
ID |
100111 |
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 |
039290-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.833)
|
Stock # |
R1221 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
115071649-115139489 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 115086567 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 351
(F351L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035010
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035010]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035010
AA Change: F351L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000035010 Gene: ENSMUSG00000032437 AA Change: F351L
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: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
T |
C |
6: 86,942,460 (GRCm39) |
S668P |
unknown |
Het |
Anks1 |
A |
G |
17: 28,269,616 (GRCm39) |
Q770R |
possibly damaging |
Het |
Apc2 |
G |
A |
10: 80,142,214 (GRCm39) |
V378I |
probably damaging |
Het |
Apeh |
A |
G |
9: 107,969,808 (GRCm39) |
V184A |
probably benign |
Het |
AU018091 |
A |
G |
7: 3,208,717 (GRCm39) |
F404S |
probably damaging |
Het |
Bap1 |
T |
C |
14: 30,979,608 (GRCm39) |
L537P |
probably damaging |
Het |
Bhlha15 |
A |
G |
5: 144,128,341 (GRCm39) |
Y151C |
probably damaging |
Het |
Bmp8b |
A |
T |
4: 123,008,504 (GRCm39) |
T157S |
probably damaging |
Het |
Btbd1 |
G |
T |
7: 81,468,005 (GRCm39) |
H172N |
possibly damaging |
Het |
C1rl |
A |
G |
6: 124,470,940 (GRCm39) |
R83G |
probably benign |
Het |
Cep104 |
A |
G |
4: 154,072,902 (GRCm39) |
T387A |
probably benign |
Het |
Cfi |
A |
T |
3: 129,666,618 (GRCm39) |
Q447L |
probably damaging |
Het |
Cimap1a |
G |
T |
7: 140,428,296 (GRCm39) |
W10L |
probably damaging |
Het |
Coq6 |
A |
G |
12: 84,418,301 (GRCm39) |
E295G |
possibly damaging |
Het |
Dclre1a |
T |
C |
19: 56,519,700 (GRCm39) |
T978A |
possibly damaging |
Het |
Dlc1 |
T |
C |
8: 37,051,985 (GRCm39) |
D582G |
probably benign |
Het |
Dlgap2 |
A |
G |
8: 14,776,952 (GRCm39) |
T65A |
probably benign |
Het |
Dock5 |
G |
A |
14: 67,996,610 (GRCm39) |
S1711L |
probably benign |
Het |
Drc3 |
A |
C |
11: 60,275,052 (GRCm39) |
I338L |
probably benign |
Het |
Dsc1 |
A |
T |
18: 20,247,599 (GRCm39) |
C5* |
probably null |
Het |
F5 |
A |
G |
1: 163,989,368 (GRCm39) |
Y90C |
probably damaging |
Het |
Gdf10 |
G |
A |
14: 33,654,710 (GRCm39) |
A406T |
probably benign |
Het |
Gm136 |
G |
T |
4: 34,744,127 (GRCm39) |
A239E |
possibly damaging |
Het |
Gm4952 |
A |
T |
19: 12,601,059 (GRCm39) |
D93V |
possibly damaging |
Het |
Gramd1c |
T |
C |
16: 43,810,227 (GRCm39) |
T454A |
possibly damaging |
Het |
Gstm6 |
A |
G |
3: 107,848,418 (GRCm39) |
I58T |
probably damaging |
Het |
Kdm3b |
C |
T |
18: 34,941,298 (GRCm39) |
S263L |
possibly damaging |
Het |
Kdm5b |
G |
C |
1: 134,526,829 (GRCm39) |
S317T |
probably damaging |
Het |
Myo15b |
A |
G |
11: 115,777,546 (GRCm39) |
R71G |
possibly damaging |
Het |
Nlrp1b |
G |
A |
11: 71,072,290 (GRCm39) |
P518S |
probably benign |
Het |
Nme5 |
A |
T |
18: 34,704,575 (GRCm39) |
I90N |
probably damaging |
Het |
Nrxn1 |
T |
A |
17: 90,950,722 (GRCm39) |
T478S |
probably damaging |
Het |
Or8g22 |
A |
C |
9: 38,958,483 (GRCm39) |
D77E |
probably damaging |
Het |
Osmr |
G |
A |
15: 6,853,042 (GRCm39) |
Q617* |
probably null |
Het |
Pcsk5 |
T |
C |
19: 17,814,512 (GRCm39) |
D2G |
possibly damaging |
Het |
Pdpn |
G |
A |
4: 143,000,608 (GRCm39) |
R75C |
probably damaging |
Het |
Pidd1 |
A |
T |
7: 141,018,725 (GRCm39) |
F842Y |
probably damaging |
Het |
Resf1 |
T |
A |
6: 149,227,719 (GRCm39) |
V255E |
probably benign |
Het |
Sema3a |
A |
G |
5: 13,566,190 (GRCm39) |
Q158R |
probably benign |
Het |
Setbp1 |
T |
A |
18: 78,899,798 (GRCm39) |
R1290W |
probably damaging |
Het |
Slc20a1 |
G |
A |
2: 129,050,324 (GRCm39) |
G494D |
probably benign |
Het |
Spag17 |
A |
G |
3: 99,889,584 (GRCm39) |
E151G |
possibly damaging |
Het |
Tas1r2 |
A |
G |
4: 139,396,436 (GRCm39) |
M592V |
probably benign |
Het |
Tbcd |
A |
G |
11: 121,387,909 (GRCm39) |
T347A |
probably benign |
Het |
Tmem109 |
C |
A |
19: 10,851,733 (GRCm39) |
R37L |
possibly damaging |
Het |
Tmem67 |
G |
A |
4: 12,045,871 (GRCm39) |
S862L |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,781,857 (GRCm39) |
D1017V |
probably damaging |
Het |
Zfp646 |
G |
A |
7: 127,482,292 (GRCm39) |
G1490S |
probably benign |
Het |
Zfyve16 |
T |
C |
13: 92,644,813 (GRCm39) |
S1130G |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGAAACTGGACTGCTGTTCAAGAC -3'
(R):5'- GGGATACAGAGGTTCTACAGCTTTGC -3'
Sequencing Primer
(F):5'- TTCTAAAGTCAGGAATGGCAGCTC -3'
(R):5'- TTGCAAGTGAAAGTATTGAAATGGC -3'
|
Posted On |
2014-01-15 |