Incidental Mutation 'IGL02351:Stt3b'
ID 289469
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) question?
Stock # IGL02351
Quality Score
Status
Chromosome 9
Chromosomal Location 115071649-115139489 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 115079975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 646 (M646L)
Ref Sequence ENSEMBL: ENSMUSP00000035010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035010]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000035010
AA Change: M646L

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000035010
Gene: ENSMUSG00000032437
AA Change: M646L

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,474,418 (GRCm39) T448A possibly damaging Het
Adamtsl1 T A 4: 86,075,110 (GRCm39) probably null Het
Adgra3 A G 5: 50,215,900 (GRCm39) V73A probably benign Het
Aggf1 T C 13: 95,489,358 (GRCm39) probably benign Het
Aktip C T 8: 91,853,520 (GRCm39) V96I possibly damaging Het
Atm A G 9: 53,433,476 (GRCm39) I258T probably benign Het
Baz1b C T 5: 135,273,160 (GRCm39) T1428I probably damaging Het
C3ar1 A T 6: 122,826,934 (GRCm39) Y428N probably damaging Het
Cadps A G 14: 12,597,380 (GRCm38) S437P probably damaging Het
Car4 C T 11: 84,856,593 (GRCm39) P294S probably damaging Het
Cenpq A G 17: 41,235,223 (GRCm39) L213P probably damaging Het
Cept1 A G 3: 106,446,504 (GRCm39) probably null Het
Cln6 A G 9: 62,754,407 (GRCm39) I150V probably benign Het
Cyb5r3 T C 15: 83,045,136 (GRCm39) T94A probably benign Het
Cyp2c67 A G 19: 39,605,861 (GRCm39) M345T probably damaging Het
Dapk2 T A 9: 66,153,805 (GRCm39) I187N probably damaging Het
Dkk2 A G 3: 131,883,673 (GRCm39) D191G probably benign Het
Dnah8 T A 17: 30,986,785 (GRCm39) F3145I probably damaging Het
Dock1 A C 7: 134,710,548 (GRCm39) D1190A possibly damaging Het
Ehhadh T A 16: 21,581,620 (GRCm39) L457F probably damaging Het
Ercc6l2 T C 13: 64,001,497 (GRCm39) L552P probably damaging Het
Ghrhr T G 6: 55,361,138 (GRCm39) I284S probably damaging Het
Gm10288 A T 3: 146,544,954 (GRCm39) noncoding transcript Het
Gp6 T G 7: 4,397,507 (GRCm39) I19L probably benign Het
Gria4 G A 9: 4,456,206 (GRCm39) S698L possibly damaging Het
Ifng A T 10: 118,278,410 (GRCm39) I53F possibly damaging Het
Kazn A C 4: 141,874,327 (GRCm39) probably null Het
Khk A T 5: 31,085,848 (GRCm39) I136F probably damaging Het
Lnx1 T A 5: 74,788,027 (GRCm39) N98Y probably damaging Het
Lsp1 T C 7: 142,042,679 (GRCm39) probably null Het
Lta4h A T 10: 93,314,329 (GRCm39) N467I probably benign Het
Mcmbp C A 7: 128,311,505 (GRCm39) probably null Het
Me2 A T 18: 73,931,038 (GRCm39) I85K probably benign Het
Muc4 C T 16: 32,569,804 (GRCm39) T288I possibly damaging Het
Nadsyn1 A T 7: 143,353,649 (GRCm39) Y525N probably damaging Het
Nt5e G A 9: 88,209,946 (GRCm39) V70M probably damaging Het
Or52e4 G A 7: 104,706,182 (GRCm39) G243D probably damaging Het
Or8b36 A T 9: 37,937,332 (GRCm39) I77L possibly damaging Het
Or9k7 T G 10: 130,046,603 (GRCm39) Y132S probably damaging Het
Pkd1l3 A G 8: 110,373,129 (GRCm39) probably benign Het
Ppm1d A T 11: 85,236,541 (GRCm39) E440V probably damaging Het
Pramel32 A T 4: 88,546,127 (GRCm39) I405N probably damaging Het
Ripor2 A T 13: 24,915,572 (GRCm39) E1047D probably damaging Het
Rwdd2b G A 16: 87,234,336 (GRCm39) A18V probably benign Het
Serpina5 G T 12: 104,068,384 (GRCm39) K148N probably damaging Het
Setx A G 2: 29,036,976 (GRCm39) K1154E probably benign Het
Skap1 T A 11: 96,599,382 (GRCm39) probably null Het
Spcs2 T C 7: 99,498,241 (GRCm39) K81R probably damaging Het
Suco T C 1: 161,646,195 (GRCm39) T1169A probably benign Het
Susd1 A T 4: 59,427,985 (GRCm39) Y66* probably null Het
Trim34a T A 7: 103,910,441 (GRCm39) C414* probably null Het
Trim58 G A 11: 58,542,176 (GRCm39) G379S probably damaging Het
Vmn2r50 T A 7: 9,787,002 (GRCm39) Q35L probably benign Het
Zfp418 T C 7: 7,177,690 (GRCm39) probably benign Het
Zfp57 G A 17: 37,320,919 (GRCm39) V258I probably benign Het
Zng1 A T 19: 24,909,026 (GRCm39) probably null Het
Other mutations in Stt3b
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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