Incidental Mutation 'R1477:Stt3b'
ID |
164137 |
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 |
039530-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.807)
|
Stock # |
R1477 (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 115095260 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 257
(V257A)
|
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: V257A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000035010 Gene: ENSMUSG00000032437 AA Change: V257A
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: 96.4%
- 20x: 93.1%
|
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 |
Acsl5 |
A |
C |
19: 55,279,904 (GRCm39) |
D481A |
probably benign |
Het |
Adam2 |
A |
C |
14: 66,315,149 (GRCm39) |
L8R |
possibly damaging |
Het |
Ajm1 |
G |
C |
2: 25,469,765 (GRCm39) |
H49D |
possibly damaging |
Het |
Arfgef1 |
A |
T |
1: 10,259,509 (GRCm39) |
C619S |
probably damaging |
Het |
Atm |
A |
G |
9: 53,375,573 (GRCm39) |
I2082T |
probably benign |
Het |
Cgrrf1 |
A |
G |
14: 47,090,895 (GRCm39) |
I210M |
probably benign |
Het |
Clec2e |
A |
T |
6: 129,072,163 (GRCm39) |
V72E |
probably benign |
Het |
Cmtr1 |
T |
C |
17: 29,916,131 (GRCm39) |
V587A |
possibly damaging |
Het |
Col1a2 |
T |
C |
6: 4,539,673 (GRCm39) |
F1314L |
unknown |
Het |
Ctbp2 |
T |
C |
7: 132,600,670 (GRCm39) |
E618G |
probably damaging |
Het |
Dnaaf6rt |
G |
A |
1: 31,262,104 (GRCm39) |
V29M |
probably benign |
Het |
Dock8 |
A |
T |
19: 25,072,914 (GRCm39) |
Y398F |
possibly damaging |
Het |
Ezh1 |
A |
T |
11: 101,083,810 (GRCm39) |
D733E |
probably damaging |
Het |
Fbxl6 |
A |
G |
15: 76,421,934 (GRCm39) |
S202P |
probably benign |
Het |
Fcgbpl1 |
C |
A |
7: 27,856,518 (GRCm39) |
Q2102K |
probably benign |
Het |
Grid2ip |
G |
A |
5: 143,361,340 (GRCm39) |
A191T |
probably damaging |
Het |
Helz2 |
T |
C |
2: 180,874,597 (GRCm39) |
S1966G |
probably benign |
Het |
Ipmk |
A |
G |
10: 71,217,607 (GRCm39) |
K385E |
probably damaging |
Het |
Itga11 |
G |
A |
9: 62,662,493 (GRCm39) |
V489I |
probably benign |
Het |
Klhl6 |
T |
C |
16: 19,784,727 (GRCm39) |
K137R |
probably benign |
Het |
Meis1 |
G |
A |
11: 18,831,665 (GRCm39) |
Q458* |
probably null |
Het |
Mst1r |
T |
C |
9: 107,785,523 (GRCm39) |
S394P |
probably benign |
Het |
Mus81 |
G |
T |
19: 5,536,362 (GRCm39) |
H155Q |
probably benign |
Het |
Neb |
G |
A |
2: 52,154,134 (GRCm39) |
L2326F |
probably damaging |
Het |
Nf1 |
C |
T |
11: 79,286,685 (GRCm39) |
Q162* |
probably null |
Het |
Nin |
T |
C |
12: 70,090,958 (GRCm39) |
E819G |
possibly damaging |
Het |
Nox4 |
T |
C |
7: 86,945,074 (GRCm39) |
V79A |
probably benign |
Het |
Or11g2 |
A |
T |
14: 50,856,170 (GRCm39) |
I164F |
probably damaging |
Het |
Or13a28 |
T |
A |
7: 140,218,355 (GRCm39) |
I247N |
possibly damaging |
Het |
Or5ae2 |
T |
A |
7: 84,506,225 (GRCm39) |
I216N |
probably damaging |
Het |
Or6d12 |
A |
T |
6: 116,493,626 (GRCm39) |
Y296F |
probably damaging |
Het |
Peg3 |
T |
A |
7: 6,719,141 (GRCm39) |
D69V |
probably damaging |
Het |
Pnp2 |
A |
G |
14: 51,196,992 (GRCm39) |
E26G |
probably benign |
Het |
Pnpt1 |
T |
A |
11: 29,087,102 (GRCm39) |
C154S |
probably benign |
Het |
Ppp1r26 |
C |
T |
2: 28,342,800 (GRCm39) |
T810I |
probably benign |
Het |
Ppp2r5b |
A |
G |
19: 6,280,257 (GRCm39) |
S349P |
probably benign |
Het |
Prdm4 |
C |
T |
10: 85,740,129 (GRCm39) |
V424I |
probably benign |
Het |
Rraga |
A |
G |
4: 86,494,996 (GRCm39) |
I281V |
probably benign |
Het |
Sall1 |
T |
C |
8: 89,759,510 (GRCm39) |
E198G |
probably damaging |
Het |
Serpina9 |
T |
C |
12: 103,963,362 (GRCm39) |
D382G |
possibly damaging |
Het |
Taf2 |
A |
T |
15: 54,925,568 (GRCm39) |
Y225N |
possibly damaging |
Het |
Tlr3 |
A |
G |
8: 45,851,202 (GRCm39) |
L41P |
probably damaging |
Het |
Trappc12 |
A |
T |
12: 28,787,751 (GRCm39) |
V444E |
probably benign |
Het |
Trim34a |
T |
A |
7: 103,897,287 (GRCm39) |
V117D |
possibly damaging |
Het |
Ttbk1 |
A |
C |
17: 46,787,725 (GRCm39) |
M259R |
probably benign |
Het |
Ttll12 |
A |
G |
15: 83,464,303 (GRCm39) |
V509A |
probably damaging |
Het |
Ush2a |
G |
A |
1: 188,581,273 (GRCm39) |
V3718M |
probably benign |
Het |
Vps35 |
T |
A |
8: 86,014,429 (GRCm39) |
E73D |
probably damaging |
Het |
Zfp790 |
C |
T |
7: 29,522,525 (GRCm39) |
|
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 |
|
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 |
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'- GCCTTTTCATGGGCAATTACTGAGC -3'
(R):5'- TCAGCCAATCAGCACTGTCGAG -3'
Sequencing Primer
(F):5'- GCAAACAAAGTTGTTTACTAAGAGCG -3'
(R):5'- ATCAGCACTGTCGAGAGTCG -3'
|
Posted On |
2014-03-28 |