Incidental Mutation 'R2175:Siae'
ID 236832
Institutional Source Beutler Lab
Gene Symbol Siae
Ensembl Gene ENSMUSG00000001942
Gene Name sialic acid acetylesterase
Synonyms LSE, clone 165, Ysg2
MMRRC Submission 040177-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R2175 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 37525117-37559554 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 37539092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 168 (D168Y)
Ref Sequence ENSEMBL: ENSMUSP00000149505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002007] [ENSMUST00000213126] [ENSMUST00000215474] [ENSMUST00000215829]
AlphaFold P70665
Predicted Effect probably damaging
Transcript: ENSMUST00000002007
AA Change: D96Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002007
Gene: ENSMUSG00000001942
AA Change: D96Y

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:DUF303 118 420 1.1e-77 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213126
AA Change: D133Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215474
AA Change: D168Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215829
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217567
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme which removes 9-O-acetylation modifications from sialic acids. Mutations in this gene are associated with susceptibility to autoimmune disease 6. Multiple transcript variants encoding different isoforms, found either in the cytosol or in the lysosome, have been found for this gene.[provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit normal marginal zone B cell and memory phenotype T cell numbers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T A 8: 44,078,475 (GRCm39) Y583F probably benign Het
Adra2a A G 19: 54,034,793 (GRCm39) T50A probably benign Het
Alox8 T C 11: 69,078,592 (GRCm39) Y367C possibly damaging Het
Ankfn1 A G 11: 89,417,363 (GRCm39) L83P probably damaging Het
Asxl3 T C 18: 22,649,652 (GRCm39) L547P probably benign Het
Cox10 G A 11: 63,962,475 (GRCm39) A122V probably benign Het
Cttnbp2 A C 6: 18,434,828 (GRCm39) probably null Het
Eml5 A T 12: 98,842,482 (GRCm39) C205* probably null Het
Ephx3 T A 17: 32,407,433 (GRCm39) T204S possibly damaging Het
Evi5l A G 8: 4,237,269 (GRCm39) H124R probably damaging Het
Ext1 G T 15: 52,932,124 (GRCm39) P726Q probably damaging Het
Fam151b T C 13: 92,614,426 (GRCm39) R21G probably damaging Het
Hdac1 G A 4: 129,428,463 (GRCm39) R36C probably damaging Het
Ift172 A G 5: 31,424,029 (GRCm39) Y715H probably damaging Het
Inpp4b T C 8: 82,583,328 (GRCm39) F144S probably damaging Het
Lepr T A 4: 101,622,576 (GRCm39) I452N probably benign Het
Mok T C 12: 110,781,634 (GRCm39) H6R probably benign Het
Myef2 A T 2: 124,940,375 (GRCm39) M392K probably damaging Het
Ncoa2 G A 1: 13,294,837 (GRCm39) P28S probably damaging Het
Nfrkb A G 9: 31,300,310 (GRCm39) T34A possibly damaging Het
Nkx1-1 G A 5: 33,588,598 (GRCm39) A230V probably benign Het
Or10ag2 T A 2: 87,248,500 (GRCm39) L34H probably damaging Het
Or5an1b T A 19: 12,299,885 (GRCm39) Y102F probably damaging Het
Ryr1 T G 7: 28,767,867 (GRCm39) K2890T probably damaging Het
Smarcc1 A T 9: 109,993,877 (GRCm39) T241S possibly damaging Het
Steap2 T A 5: 5,723,501 (GRCm39) I460F probably damaging Het
Strap A G 6: 137,727,590 (GRCm39) T345A probably benign Het
Tex2 A G 11: 106,394,513 (GRCm39) V1099A unknown Het
Thsd7a T C 6: 12,331,943 (GRCm39) T1290A possibly damaging Het
Unc80 G A 1: 66,716,514 (GRCm39) G2878D probably damaging Het
Vmn2r63 C T 7: 42,583,004 (GRCm39) probably null Het
Xirp2 C T 2: 67,340,258 (GRCm39) T833I probably damaging Het
Zcchc2 T C 1: 105,955,153 (GRCm39) S615P probably damaging Het
Zfp148 C G 16: 33,317,116 (GRCm39) S554* probably null Het
Other mutations in Siae
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01734:Siae APN 9 37,542,782 (GRCm39) missense probably damaging 0.98
IGL02696:Siae APN 9 37,542,680 (GRCm39) missense probably damaging 1.00
BB009:Siae UTSW 9 37,544,980 (GRCm39) missense probably benign 0.12
BB019:Siae UTSW 9 37,544,980 (GRCm39) missense probably benign 0.12
R0531:Siae UTSW 9 37,539,090 (GRCm39) missense probably benign 0.04
R1138:Siae UTSW 9 37,553,988 (GRCm39) missense probably damaging 1.00
R1748:Siae UTSW 9 37,542,902 (GRCm39) critical splice donor site probably null
R4301:Siae UTSW 9 37,545,009 (GRCm39) missense possibly damaging 0.51
R4887:Siae UTSW 9 37,539,096 (GRCm39) missense possibly damaging 0.93
R4989:Siae UTSW 9 37,557,816 (GRCm39) missense possibly damaging 0.79
R5133:Siae UTSW 9 37,557,816 (GRCm39) missense possibly damaging 0.79
R5134:Siae UTSW 9 37,557,816 (GRCm39) missense possibly damaging 0.79
R5151:Siae UTSW 9 37,542,869 (GRCm39) missense probably benign 0.02
R5242:Siae UTSW 9 37,556,148 (GRCm39) missense probably damaging 1.00
R5459:Siae UTSW 9 37,528,119 (GRCm39) missense probably damaging 1.00
R5571:Siae UTSW 9 37,528,219 (GRCm39) missense probably benign 0.01
R6335:Siae UTSW 9 37,544,277 (GRCm39) missense probably benign 0.03
R6552:Siae UTSW 9 37,557,696 (GRCm39) missense possibly damaging 0.57
R6692:Siae UTSW 9 37,554,095 (GRCm39) critical splice donor site probably null
R6694:Siae UTSW 9 37,528,119 (GRCm39) missense probably damaging 1.00
R7183:Siae UTSW 9 37,528,242 (GRCm39) missense possibly damaging 0.77
R7266:Siae UTSW 9 37,534,309 (GRCm39) missense probably damaging 0.98
R7697:Siae UTSW 9 37,544,950 (GRCm39) missense probably damaging 1.00
R7821:Siae UTSW 9 37,556,196 (GRCm39) missense probably damaging 1.00
R7932:Siae UTSW 9 37,544,980 (GRCm39) missense probably benign 0.12
R8312:Siae UTSW 9 37,557,593 (GRCm39) missense
R8377:Siae UTSW 9 37,542,901 (GRCm39) critical splice donor site probably null
R8868:Siae UTSW 9 37,528,132 (GRCm39) missense probably damaging 1.00
R9014:Siae UTSW 9 37,557,639 (GRCm39) missense possibly damaging 0.74
R9198:Siae UTSW 9 37,539,105 (GRCm39) missense probably benign 0.05
R9447:Siae UTSW 9 37,557,743 (GRCm39) missense probably benign 0.08
Z1176:Siae UTSW 9 37,542,765 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TCAGATGTGTGTACTGAGAAGCTG -3'
(R):5'- GGAGAAGATTCAGGCTGGGTTC -3'

Sequencing Primer
(F):5'- GCAAGGCAGTTTAACCTCTTTCAG -3'
(R):5'- TCTAACAGTGATCATCAGGAATGG -3'
Posted On 2014-10-02