Incidental Mutation 'R6859:Stt3a'
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ID537813
Institutional Source Beutler Lab
Gene Symbol Stt3a
Ensembl Gene ENSMUSG00000032116
Gene NameSTT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)
SynonymsItm1
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.966) question?
Stock #R6859 (G1)
Quality Score225.009
Status Validated
Chromosome9
Chromosomal Location36729344-36767679 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 36735386 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 644 (Y644H)
Ref Sequence ENSEMBL: ENSMUSP00000113116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120381]
Predicted Effect probably damaging
Transcript: ENSMUST00000120381
AA Change: Y644H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113116
Gene: ENSMUSG00000032116
AA Change: Y644H

DomainStartEndE-ValueType
Pfam:STT3 17 484 2e-163 PFAM
Pfam:PMT_2 97 257 9.3e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135934
SMART Domains Protein: ENSMUSP00000117794
Gene: ENSMUSG00000032116

DomainStartEndE-ValueType
Pfam:STT3 1 112 1.8e-45 PFAM
Meta Mutation Damage Score 0.9410 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (42/42)
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 the N-oligosaccharyltransferase (OST) complex, which functions in the endoplasmic reticulum to transfer glycan chains to asparagine residues of target proteins. A separate complex containing a similar catalytic subunit with an overlapping function also exists. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,851,935 V788A possibly damaging Het
Abca15 A T 7: 120,402,994 K1577* probably null Het
Arhgap12 T C 18: 6,111,803 E187G probably damaging Het
Arhgef10 T A 8: 14,975,005 Y398N probably damaging Het
Baz2b C T 2: 59,901,530 V2055I probably benign Het
Btnl4 T C 17: 34,469,379 D475G probably damaging Het
C1qtnf12 T A 4: 155,965,613 F190Y probably damaging Het
Cacul1 A G 19: 60,534,245 S284P probably damaging Het
Ccdc166 C A 15: 75,981,971 V87L possibly damaging Het
Ceacam13 C T 7: 18,013,107 P162S probably damaging Het
Cep250 T A 2: 155,992,526 S2124T probably benign Het
Chd5 T C 4: 152,378,207 S1372P probably damaging Het
Chil3 C A 3: 106,160,414 R145L probably benign Het
Cyp4f40 T C 17: 32,675,949 S454P probably benign Het
Defa3 T A 8: 21,288,197 C66S probably damaging Het
Fan1 T A 7: 64,372,486 N340Y probably damaging Het
Glmp C A 3: 88,328,042 N260K probably benign Het
Gsap T A 5: 21,281,018 L653Q probably damaging Het
Il18rap T A 1: 40,525,095 Y124* probably null Het
Lao1 A C 4: 118,963,751 K58T probably damaging Het
Lepr T A 4: 101,765,290 probably null Het
Mrgpra3 G C 7: 47,590,033 I48M probably benign Het
Nck2 T G 1: 43,554,351 N239K probably benign Het
Olfr1208 A G 2: 88,896,934 I221T probably benign Het
Olfr360 A T 2: 37,068,782 Y159F probably damaging Het
Olfr65 G A 7: 103,906,701 W84* probably null Het
Optc A T 1: 133,897,816 V324E possibly damaging Het
Otog T C 7: 46,273,781 S1027P probably damaging Het
Plbd2 A G 5: 120,503,342 F84L probably benign Het
Plxnb1 T C 9: 109,106,770 L110P probably damaging Het
Prnp T C 2: 131,936,788 V120A possibly damaging Het
Ptprh C A 7: 4,549,371 E965* probably null Het
Reln T C 5: 22,034,570 T900A probably damaging Het
Sulf2 A G 2: 166,087,119 Y311H probably damaging Het
Tbc1d32 A T 10: 56,180,530 I438N probably damaging Het
Tbcd T C 11: 121,497,111 V356A possibly damaging Het
Tecta T C 9: 42,392,129 N69S probably damaging Het
Topaz1 T C 9: 122,801,958 V1618A probably benign Het
Usp48 C T 4: 137,625,276 T627I possibly damaging Het
Vcl T C 14: 20,987,075 V247A probably damaging Het
Vmn2r59 A G 7: 42,043,853 L441P probably damaging Het
Zfp869 C T 8: 69,706,525 G466D probably damaging Het
Other mutations in Stt3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01866:Stt3a APN 9 36734366 missense probably benign 0.00
IGL02237:Stt3a APN 9 36749637 nonsense probably null
IGL02644:Stt3a APN 9 36752353 missense possibly damaging 0.70
IGL02710:Stt3a APN 9 36758745 missense probably damaging 0.99
IGL03085:Stt3a APN 9 36732970 intron probably benign
IGL03180:Stt3a APN 9 36759256 missense probably damaging 1.00
IGL03295:Stt3a APN 9 36763331 splice site probably null
Scramble UTSW 9 36735466 missense probably damaging 1.00
Western UTSW 9 36735386 missense probably damaging 1.00
R0314:Stt3a UTSW 9 36749545 intron probably benign
R0731:Stt3a UTSW 9 36735512 missense probably damaging 1.00
R1188:Stt3a UTSW 9 36751340 missense probably damaging 1.00
R1797:Stt3a UTSW 9 36743415 critical splice donor site probably null
R1846:Stt3a UTSW 9 36763385 missense probably damaging 1.00
R2152:Stt3a UTSW 9 36747996 missense probably damaging 1.00
R2220:Stt3a UTSW 9 36749551 critical splice donor site probably null
R2317:Stt3a UTSW 9 36748075 missense probably benign 0.08
R3689:Stt3a UTSW 9 36759322 missense probably damaging 1.00
R4299:Stt3a UTSW 9 36763344 missense probably damaging 1.00
R4586:Stt3a UTSW 9 36741793 missense probably damaging 1.00
R4595:Stt3a UTSW 9 36735512 missense probably damaging 1.00
R4689:Stt3a UTSW 9 36732929 missense possibly damaging 0.91
R4736:Stt3a UTSW 9 36749712 missense probably benign 0.01
R5145:Stt3a UTSW 9 36735466 missense probably damaging 1.00
R5208:Stt3a UTSW 9 36746595 missense possibly damaging 0.78
R5665:Stt3a UTSW 9 36759314 missense probably damaging 1.00
R5748:Stt3a UTSW 9 36752400 missense probably benign 0.21
R6341:Stt3a UTSW 9 36751296 missense probably damaging 1.00
R6853:Stt3a UTSW 9 36741727 missense possibly damaging 0.89
R7453:Stt3a UTSW 9 36747970 missense possibly damaging 0.91
R7495:Stt3a UTSW 9 36747939 missense probably benign 0.03
R7745:Stt3a UTSW 9 36751239 nonsense probably null
R8007:Stt3a UTSW 9 36741769 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAACCTGACCAAATCCTTCTCAATG -3'
(R):5'- AGCCTTTCTCATGCAGCAG -3'

Sequencing Primer
(F):5'- AGTTCAGTAACCTGTGGGCTCAAC -3'
(R):5'- CACATTAAGGAGAATGACTACT -3'
Posted On2018-10-18