Incidental Mutation 'IGL01333:Stt3b'
ID74547
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stt3b
Ensembl Gene ENSMUSG00000032437
Gene NameSTT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)
Synonyms1300006C19Rik, Simp
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.796) question?
Stock #IGL01333
Quality Score
Status
Chromosome9
Chromosomal Location115242581-115310421 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 115257544 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 336 (Y336N)
Ref Sequence ENSEMBL: ENSMUSP00000035010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035010]
Predicted Effect probably damaging
Transcript: ENSMUST00000035010
AA Change: Y336N

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000035010
Gene: ENSMUSG00000032437
AA Change: Y336N

DomainStartEndE-ValueType
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
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 G T 7: 120,382,308 C995F probably damaging Het
Adamts7 G T 9: 90,186,979 G525C probably damaging Het
AI481877 T C 4: 59,047,870 N1250D possibly damaging Het
Akap1 T C 11: 88,845,605 E110G probably damaging Het
Ankrd7 A G 6: 18,879,346 H263R probably damaging Het
Cav3 T C 6: 112,459,927 probably null Het
Ccdc66 T C 14: 27,493,315 R423G possibly damaging Het
Cep76 C T 18: 67,640,117 R37Q probably benign Het
Chfr A G 5: 110,143,573 K86E possibly damaging Het
Eif2b3 T A 4: 117,070,690 S369T probably benign Het
Hgf A T 5: 16,576,941 R221* probably null Het
Hspg2 T C 4: 137,540,314 Y2078H probably damaging Het
Kif22 A C 7: 127,034,195 V55G probably damaging Het
Mme T C 3: 63,346,091 I452T probably damaging Het
Mrpl41 T C 2: 24,974,441 N73S probably benign Het
Mup6 T C 4: 60,005,529 F112S probably damaging Het
Nktr A G 9: 121,731,564 I125V possibly damaging Het
Nup205 T C 6: 35,241,063 F1784L probably benign Het
Nwd1 A G 8: 72,666,811 D275G possibly damaging Het
Olfr1423 G A 19: 12,035,941 T267I probably benign Het
Olfr187 T C 16: 59,035,906 Y277C probably damaging Het
Pde6c G A 19: 38,175,695 E666K probably benign Het
Pth2r A T 1: 65,388,725 D519V probably benign Het
Reln A T 5: 22,171,251 I169N probably damaging Het
Slc25a13 A G 6: 6,042,739 probably null Het
Smg1 A G 7: 118,163,378 probably benign Het
Sp1 A G 15: 102,430,929 E434G probably damaging Het
Vmn2r104 T A 17: 20,042,793 R135S probably benign Het
Zfhx4 C T 3: 5,399,327 T1515I probably damaging Het
Zfp280d A G 9: 72,335,114 probably benign Het
Other mutations in Stt3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Stt3b APN 9 115251847 missense probably benign 0.42
IGL00929:Stt3b APN 9 115266165 missense probably damaging 1.00
IGL01389:Stt3b APN 9 115253900 missense probably benign
IGL01680:Stt3b APN 9 115246261 splice site probably benign
IGL01980:Stt3b APN 9 115276699 splice site probably null
IGL02351:Stt3b APN 9 115250907 missense possibly damaging 0.90
IGL02358:Stt3b APN 9 115250907 missense possibly damaging 0.90
IGL02421:Stt3b APN 9 115251852 splice site probably benign
IGL02602:Stt3b APN 9 115276778 missense probably damaging 1.00
IGL03231:Stt3b APN 9 115243994 missense unknown
R0482:Stt3b UTSW 9 115248567 missense probably benign 0.10
R1221:Stt3b UTSW 9 115257499 missense probably benign 0.00
R1437:Stt3b UTSW 9 115254927 missense probably damaging 1.00
R1477:Stt3b UTSW 9 115266192 missense probably damaging 1.00
R1604:Stt3b UTSW 9 115250927 missense probably damaging 1.00
R1796:Stt3b UTSW 9 115248607 nonsense probably null
R4112:Stt3b UTSW 9 115266138 missense probably damaging 1.00
R4166:Stt3b UTSW 9 115254901 missense probably damaging 1.00
R4695:Stt3b UTSW 9 115254794 missense probably damaging 1.00
R5183:Stt3b UTSW 9 115266143 missense probably damaging 0.99
R5317:Stt3b UTSW 9 115252510 nonsense probably null
R5631:Stt3b UTSW 9 115254845 missense probably benign 0.05
R5665:Stt3b UTSW 9 115266147 missense probably damaging 1.00
R6495:Stt3b UTSW 9 115267320 missense possibly damaging 0.46
R6517:Stt3b UTSW 9 115267342 missense probably benign
R6525:Stt3b UTSW 9 115258558 missense probably damaging 1.00
R6593:Stt3b UTSW 9 115252511 missense probably damaging 0.99
R7065:Stt3b UTSW 9 115266156 missense probably damaging 1.00
R7071:Stt3b UTSW 9 115254017 missense probably damaging 1.00
R7297:Stt3b UTSW 9 115276957 missense probably damaging 1.00
R7313:Stt3b UTSW 9 115266115 missense probably damaging 0.99
R7554:Stt3b UTSW 9 115280409 critical splice donor site probably null
Posted On2013-10-07