Incidental Mutation 'IGL01734:Siae'
ID105612
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Siae
Ensembl Gene ENSMUSG00000001942
Gene Namesialic acid acetylesterase
SynonymsLSE, clone 165, Ysg2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #IGL01734
Quality Score
Status
Chromosome9
Chromosomal Location37555698-37649655 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 37631486 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 193 (S193T)
Ref Sequence ENSEMBL: ENSMUSP00000150641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002007] [ENSMUST00000213126] [ENSMUST00000215474] [ENSMUST00000215829]
Predicted Effect probably damaging
Transcript: ENSMUST00000002007
AA Change: S156T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000002007
Gene: ENSMUSG00000001942
AA Change: S156T

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: S193T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215474
AA Change: S228T

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000215829
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217567
Coding Region Coverage
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932442E05Rik T A 10: 118,861,466 W210R possibly damaging Het
Aknad1 T C 3: 108,751,901 M77T probably benign Het
Aox2 A T 1: 58,354,310 I1210F possibly damaging Het
Brd8 A T 18: 34,614,805 probably benign Het
Cdh23 T C 10: 60,303,513 D3307G probably benign Het
Chsy1 T C 7: 66,171,310 I431T probably damaging Het
Cobl A G 11: 12,254,980 probably benign Het
Col28a1 T C 6: 8,158,134 D308G probably damaging Het
Csmd3 A G 15: 48,185,304 Y568H probably damaging Het
Dmrt3 T C 19: 25,622,583 I264T probably damaging Het
Dusp22 G T 13: 30,696,252 C52F probably damaging Het
Fbxw22 A C 9: 109,383,925 M318R probably damaging Het
Ffar4 C T 19: 38,113,847 T310M probably damaging Het
Fn1 A G 1: 71,619,485 V1138A probably damaging Het
Glt6d1 T A 2: 25,794,493 Y167F probably benign Het
Hydin T A 8: 110,490,789 Y1436* probably null Het
Il12a G A 3: 68,691,555 C2Y possibly damaging Het
Inpp5a T C 7: 139,454,090 Y38H possibly damaging Het
Jmy A C 13: 93,459,651 L490R probably damaging Het
Kif26a T A 12: 112,176,828 L1172H probably benign Het
Kmo A T 1: 175,655,102 M331L probably benign Het
Lonp1 G A 17: 56,616,026 T627M probably damaging Het
Lrrc41 T C 4: 116,093,134 probably null Het
Mast4 A T 13: 102,737,615 S1556R probably damaging Het
Mmel1 A G 4: 154,891,951 N490S probably benign Het
Mpped2 A G 2: 106,783,813 D164G probably damaging Het
Nap1l1 A G 10: 111,492,899 T230A probably benign Het
Nrap C A 19: 56,350,309 A913S probably damaging Het
Nudt16 G T 9: 105,131,508 Q65K probably benign Het
Olfr1039 T A 2: 86,131,668 probably benign Het
Olfr199 T G 16: 59,216,429 L61F probably benign Het
Olfr201 T A 16: 59,268,850 K272N probably benign Het
Olfr382 C A 11: 73,516,636 A188S probably benign Het
Olfr813 T A 10: 129,856,802 C95S probably benign Het
Parp14 A G 16: 35,858,600 F333L probably benign Het
Pi4ka G T 16: 17,297,260 Q1422K probably benign Het
Polr3c T C 3: 96,713,520 E494G probably damaging Het
Prss42 C A 9: 110,798,343 P49Q probably benign Het
Ptpra C T 2: 130,544,077 T568I probably damaging Het
Ring1 T C 17: 34,023,320 D71G probably damaging Het
Slf2 T C 19: 44,973,267 probably null Het
Spinkl T A 18: 44,174,572 K7N possibly damaging Het
Tbk1 G A 10: 121,571,983 R82* probably null Het
Tcf12 T C 9: 71,922,648 probably null Het
Tcl1b5 G A 12: 105,178,955 M59I probably benign Het
Thumpd3 C A 6: 113,066,845 T407K probably damaging Het
Timm29 T C 9: 21,593,735 V233A probably damaging Het
Tns3 A G 11: 8,519,192 probably benign Het
Ubash3b T C 9: 41,026,247 probably benign Het
Ugdh G T 5: 65,422,688 T253K probably benign Het
Zfp143 T A 7: 110,072,209 probably benign Het
Zfp738 A G 13: 67,683,444 probably benign Het
Other mutations in Siae
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02696:Siae APN 9 37631384 missense probably damaging 1.00
R0531:Siae UTSW 9 37627794 missense probably benign 0.04
R1138:Siae UTSW 9 37642692 missense probably damaging 1.00
R1748:Siae UTSW 9 37631606 critical splice donor site probably null
R2175:Siae UTSW 9 37627796 missense probably damaging 1.00
R4301:Siae UTSW 9 37633713 missense possibly damaging 0.51
R4887:Siae UTSW 9 37627800 missense possibly damaging 0.93
R4989:Siae UTSW 9 37646520 missense possibly damaging 0.79
R5133:Siae UTSW 9 37646520 missense possibly damaging 0.79
R5134:Siae UTSW 9 37646520 missense possibly damaging 0.79
R5151:Siae UTSW 9 37631573 missense probably benign 0.02
R5242:Siae UTSW 9 37644852 missense probably damaging 1.00
R5459:Siae UTSW 9 37616823 missense probably damaging 1.00
R5571:Siae UTSW 9 37616923 missense probably benign 0.01
R6335:Siae UTSW 9 37632981 missense probably benign 0.03
R6552:Siae UTSW 9 37646400 missense possibly damaging 0.57
R6692:Siae UTSW 9 37642799 critical splice donor site probably null
R6694:Siae UTSW 9 37616823 missense probably damaging 1.00
Posted On2014-01-21