Incidental Mutation 'R1188:Stt3a'
ID 102361
Institutional Source Beutler Lab
Gene Symbol Stt3a
Ensembl Gene ENSMUSG00000032116
Gene Name STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)
Synonyms Itm1
MMRRC Submission 039260-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R1188 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 36640640-36678918 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36662636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 59 (S59P)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120381] [ENSMUST00000128270] [ENSMUST00000217599]
AlphaFold P46978
Predicted Effect probably damaging
Transcript: ENSMUST00000120381
AA Change: S208P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113116
Gene: ENSMUSG00000032116
AA Change: S208P

DomainStartEndE-ValueType
Pfam:STT3 17 484 2e-163 PFAM
Pfam:PMT_2 97 257 9.3e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128270
Predicted Effect probably damaging
Transcript: ENSMUST00000135934
AA Change: S59P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117794
Gene: ENSMUSG00000032116
AA Change: S59P

DomainStartEndE-ValueType
Pfam:STT3 1 112 1.8e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215998
Predicted Effect probably benign
Transcript: ENSMUST00000217599
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 88.6%
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 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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik T C 5: 66,147,741 (GRCm39) Y14C unknown Het
Afap1l2 T C 19: 56,913,501 (GRCm39) K312E probably damaging Het
Amigo2 T A 15: 97,143,594 (GRCm39) E276V probably benign Het
Atf2 A G 2: 73,675,881 (GRCm39) F114L probably damaging Het
Avpr1a G T 10: 122,284,824 (GRCm39) G39C possibly damaging Het
Ccpg1 A G 9: 72,919,788 (GRCm39) R468G possibly damaging Het
Celf6 G T 9: 59,497,961 (GRCm39) R130L probably benign Het
Dsp T C 13: 38,378,939 (GRCm39) S1296P probably damaging Het
Fnip2 C T 3: 79,369,469 (GRCm39) R1072H probably damaging Het
Fsip2 G T 2: 82,805,361 (GRCm39) C560F possibly damaging Het
Get3 A G 8: 85,746,422 (GRCm39) I142T probably damaging Het
Gpr20 A C 15: 73,567,617 (GRCm39) H257Q probably damaging Het
Gys2 T A 6: 142,400,909 (GRCm39) H297L probably damaging Het
Habp2 G A 19: 56,300,154 (GRCm39) S201N probably benign Het
Hars2 T C 18: 36,921,022 (GRCm39) I198T probably damaging Het
Jag2 G A 12: 112,883,741 (GRCm39) Q247* probably null Het
Jam2 A G 16: 84,603,755 (GRCm39) T81A probably damaging Het
Mrps26 G A 2: 130,406,301 (GRCm39) E145K probably damaging Het
Nup210l T C 3: 90,105,486 (GRCm39) F1545L probably benign Het
Or10d4c A G 9: 39,558,772 (GRCm39) Y250C probably damaging Het
Pikfyve T A 1: 65,286,118 (GRCm39) V1074D possibly damaging Het
Prkag1 T A 15: 98,712,479 (GRCm39) I118F probably damaging Het
R3hdm2 G A 10: 127,288,624 (GRCm39) V91I probably benign Het
Rnf168 T C 16: 32,117,477 (GRCm39) V346A probably benign Het
Slc17a7 T C 7: 44,819,311 (GRCm39) V129A possibly damaging Het
Snai3 T A 8: 123,181,701 (GRCm39) Q252L probably damaging Het
Snx17 T C 5: 31,353,166 (GRCm39) V133A probably benign Het
Sun1 C T 5: 139,224,611 (GRCm39) R546C probably damaging Het
Thsd4 T A 9: 60,301,689 (GRCm39) Q202L probably benign Het
Tnrc6b A G 15: 80,763,430 (GRCm39) T311A probably benign Het
Tshr T A 12: 91,468,942 (GRCm39) D18E probably benign Het
Ttn A T 2: 76,619,773 (GRCm39) L15965Q probably damaging Het
Wnk1 C A 6: 119,925,670 (GRCm39) E1265* probably null Het
Zbtb39 C G 10: 127,578,175 (GRCm39) Q250E probably benign Het
Other mutations in Stt3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01866:Stt3a APN 9 36,645,662 (GRCm39) missense probably benign 0.00
IGL02237:Stt3a APN 9 36,660,933 (GRCm39) nonsense probably null
IGL02644:Stt3a APN 9 36,663,649 (GRCm39) missense possibly damaging 0.70
IGL02710:Stt3a APN 9 36,670,041 (GRCm39) missense probably damaging 0.99
IGL03085:Stt3a APN 9 36,644,266 (GRCm39) intron probably benign
IGL03180:Stt3a APN 9 36,670,552 (GRCm39) missense probably damaging 1.00
IGL03295:Stt3a APN 9 36,674,627 (GRCm39) splice site probably null
Scramble UTSW 9 36,646,762 (GRCm39) missense probably damaging 1.00
Western UTSW 9 36,646,682 (GRCm39) missense probably damaging 1.00
R0314:Stt3a UTSW 9 36,660,841 (GRCm39) intron probably benign
R0731:Stt3a UTSW 9 36,646,808 (GRCm39) missense probably damaging 1.00
R1797:Stt3a UTSW 9 36,654,711 (GRCm39) critical splice donor site probably null
R1846:Stt3a UTSW 9 36,674,681 (GRCm39) missense probably damaging 1.00
R2152:Stt3a UTSW 9 36,659,292 (GRCm39) missense probably damaging 1.00
R2220:Stt3a UTSW 9 36,660,847 (GRCm39) critical splice donor site probably null
R2317:Stt3a UTSW 9 36,659,371 (GRCm39) missense probably benign 0.08
R3689:Stt3a UTSW 9 36,670,618 (GRCm39) missense probably damaging 1.00
R4299:Stt3a UTSW 9 36,674,640 (GRCm39) missense probably damaging 1.00
R4586:Stt3a UTSW 9 36,653,089 (GRCm39) missense probably damaging 1.00
R4595:Stt3a UTSW 9 36,646,808 (GRCm39) missense probably damaging 1.00
R4689:Stt3a UTSW 9 36,644,225 (GRCm39) missense possibly damaging 0.91
R4736:Stt3a UTSW 9 36,661,008 (GRCm39) missense probably benign 0.01
R5145:Stt3a UTSW 9 36,646,762 (GRCm39) missense probably damaging 1.00
R5208:Stt3a UTSW 9 36,657,891 (GRCm39) missense possibly damaging 0.78
R5665:Stt3a UTSW 9 36,670,610 (GRCm39) missense probably damaging 1.00
R5748:Stt3a UTSW 9 36,663,696 (GRCm39) missense probably benign 0.21
R6341:Stt3a UTSW 9 36,662,592 (GRCm39) missense probably damaging 1.00
R6853:Stt3a UTSW 9 36,653,023 (GRCm39) missense possibly damaging 0.89
R6859:Stt3a UTSW 9 36,646,682 (GRCm39) missense probably damaging 1.00
R7453:Stt3a UTSW 9 36,659,266 (GRCm39) missense possibly damaging 0.91
R7495:Stt3a UTSW 9 36,659,235 (GRCm39) missense probably benign 0.03
R7745:Stt3a UTSW 9 36,662,535 (GRCm39) nonsense probably null
R8007:Stt3a UTSW 9 36,653,065 (GRCm39) missense probably damaging 1.00
R9176:Stt3a UTSW 9 36,662,592 (GRCm39) missense probably damaging 1.00
R9218:Stt3a UTSW 9 36,670,556 (GRCm39) missense probably damaging 0.98
R9552:Stt3a UTSW 9 36,645,675 (GRCm39) missense probably benign 0.00
R9622:Stt3a UTSW 9 36,661,025 (GRCm39) missense possibly damaging 0.95
R9784:Stt3a UTSW 9 36,670,079 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GAAACCAACAAAGGAAATCTGCATAGAAAGAA -3'
(R):5'- TCACTGTTACATCTCCAGCTTGTCTACAT -3'

Sequencing Primer
(F):5'- TCTGCATAGAAAGAATGGTGCCC -3'
(R):5'- CACTGTAGCTTGGTATATACAGTTG -3'
Genotyping

NOTE: These primers have not been validated.

Genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the single nucleotide transition.
 

PCR Primers

R11880022_PCR_F: 5’- GAAACCAACAAAGGAAATCTGCATAGAAAGAA-3’

R11880022_PCR_R: 5’- TCACTGTTACATCTCCAGCTTGTCTACAT-3’

Sequencing Primers

R11880022_SEQ_F: 5’- TCTGCATAGAAAGAATGGTGCCC-3’
 

R11880022_SEQ_R: 5’- CACTGTAGCTTGGTATATACAGTTG-3’
 

PCR program

1) 94°C             2:00

2) 94°C             0:30

3) 55°C             0:30

4) 72°C             1:00

5) repeat steps (2-4) 40X

6) 72°C             10:00

7) 4°C               hold

The following sequence of 1041 nucleotides is amplified (NCBI RefSeq: NC_000075, chromosome 9):

gaaaccaaca aaggaaatct gcatagaaag aatggtgccc aggcagtaaa cagtacagta       

ggctacgtag atccggtgag aaaaacggcc tgtcagcatt agcaccagga catgtagagg      

aatcaagttg atcaggaaca catagcctcc ccatgaagag acctgtgagg atagaacagt      

ccctttgagc accactcaca acatgttcaa ctgtatatac caagctacag tgtaaatata      

ggcgaaacta attatgtcac acacaaaatc taaggagaag cagagatata aagaaagtca      

agagacagat gtaaaattat acaaaatatg tattaggaaa gagaaatttt aaggaaaata      

taacaaaaat atgagaaaac caacatatac ccataggaag tacagtaata cagaatttga      

aaatttttat tagcagacta aaaaaaaaaa aaacagaggg ctaagatgta gctaggttag      

tagagagctt gccaagcata gattatggta cacatctgca atcccagctc tcaagaagta      

gaggcaggag gatcaggtca tcctcagcag aggagagaac aaccaaggat acataagacc      

ccatatcaaa gagaactagg tgaaaaaaga aaattttaaa attgaaaata tggggctgga      

gagatggctc agtgattaag agtactgact gctcttccaa aggtactgag ttcaattccc      

agcaaccaca tggtgggtca caaccatctg caatgtgatc tgacaccctc ttctggtatg      

tatgaagaca gctacaaagg tactcatcat atgtatcaaa taaataaatc tttaaaaaaa      

aaagaaaaac ttagccggac agtagtgggc catgccttta atcccagcac ttgggaggca      

gaggcaggtg gatttctgag tttgaggcca gcctggtcta cagagtgagt tccaggatag      

ccagggctac acagagaaac cccgtcttga acacccccca aaaaattaaa atatgtagac     

aagctggaga tgtaacagtg a

Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (Chr. + strand, A>G).
Posted On 2014-01-15