Incidental Mutation 'IGL01530:Neu3'
ID 89729
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Neu3
Ensembl Gene ENSMUSG00000035239
Gene Name neuraminidase 3
Synonyms ganglioside sialidase, membrane sialidase
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # IGL01530
Quality Score
Status
Chromosome 7
Chromosomal Location 99460646-99477579 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99462953 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 257 (S257G)
Ref Sequence ENSEMBL: ENSMUSP00000045222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036331]
AlphaFold Q9JMH7
Predicted Effect probably benign
Transcript: ENSMUST00000036331
AA Change: S257G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000045222
Gene: ENSMUSG00000035239
AA Change: S257G

DomainStartEndE-ValueType
Pfam:BNR_2 36 382 6.2e-40 PFAM
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 product belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. It is localized in the plasma membrane, and its activity is specific for gangliosides. It may play a role in modulating the ganglioside content of the lipid bilayer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased colon carcinogenesis induced by azoxymethane and dextran sodium sulfate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 G A 14: 54,881,443 (GRCm39) R1117W probably damaging Het
Acox2 T G 14: 8,246,363 (GRCm38) Y476S probably damaging Het
Arl6ip5 G A 6: 97,187,785 (GRCm39) D2N possibly damaging Het
Ces2h A G 8: 105,741,116 (GRCm39) H36R probably benign Het
Cfap44 C A 16: 44,269,530 (GRCm39) A1178E probably damaging Het
Clmn T A 12: 104,758,115 (GRCm39) I134F probably damaging Het
Col6a5 A G 9: 105,792,385 (GRCm39) probably benign Het
Csmd1 C T 8: 15,953,195 (GRCm39) E3429K probably damaging Het
Csmd2 A G 4: 128,308,094 (GRCm39) D1284G possibly damaging Het
Csmd3 C T 15: 47,701,833 (GRCm39) G1750E possibly damaging Het
Csmd3 T G 15: 47,533,013 (GRCm39) D2516A probably damaging Het
Depdc1a C T 3: 159,229,560 (GRCm39) H631Y probably damaging Het
Fat2 A T 11: 55,174,213 (GRCm39) S2167T probably benign Het
Flii G A 11: 60,611,008 (GRCm39) R474* probably null Het
Hmcn2 A C 2: 31,244,276 (GRCm39) D687A possibly damaging Het
Hrh4 A G 18: 13,149,004 (GRCm39) probably benign Het
Hsd3b5 G A 3: 98,526,439 (GRCm39) R336C probably damaging Het
Igkv5-39 T A 6: 69,877,459 (GRCm39) E79V probably damaging Het
Iqgap3 G A 3: 88,019,610 (GRCm39) probably null Het
Irak3 G A 10: 119,978,699 (GRCm39) S492F probably benign Het
Kif14 T A 1: 136,406,157 (GRCm39) probably benign Het
Kmt2c T C 5: 25,518,498 (GRCm39) I2394V probably benign Het
Lama1 C T 17: 68,103,785 (GRCm39) A2002V probably benign Het
Map3k19 T C 1: 127,749,841 (GRCm39) E1170G probably damaging Het
Mdn1 T C 4: 32,711,938 (GRCm39) probably benign Het
Mpo G T 11: 87,692,017 (GRCm39) M483I probably benign Het
Nhsl3 G A 4: 129,116,589 (GRCm39) probably null Het
Niban3 A T 8: 72,056,561 (GRCm39) probably benign Het
Nup214 A G 2: 31,923,733 (GRCm39) T1421A probably benign Het
Pbx1 T C 1: 168,018,873 (GRCm39) N324S probably benign Het
Pcbp2 T C 15: 102,392,601 (GRCm39) S5P probably benign Het
Pds5b A G 5: 150,715,640 (GRCm39) I511V probably benign Het
Pdzph1 C T 17: 59,229,710 (GRCm39) D983N probably damaging Het
Phldb2 A C 16: 45,623,092 (GRCm39) D651E probably damaging Het
Pkhd1 A G 1: 20,629,643 (GRCm39) probably null Het
Plxnb1 A G 9: 108,939,473 (GRCm39) D1406G probably benign Het
Rhebl1 T C 15: 98,777,367 (GRCm39) D65G probably damaging Het
Smpdl3a A G 10: 57,683,989 (GRCm39) H249R probably damaging Het
Sorbs1 T C 19: 40,365,091 (GRCm39) T231A probably benign Het
Tmem232 G A 17: 65,563,543 (GRCm39) Q617* probably null Het
Trim62 A G 4: 128,778,252 (GRCm39) D97G probably benign Het
Tsc2 T C 17: 24,841,636 (GRCm39) T328A possibly damaging Het
Ugt2b5 C T 5: 87,285,104 (GRCm39) V278I probably benign Het
Usp4 T C 9: 108,240,099 (GRCm39) probably null Het
Vdac3-ps1 C T 13: 18,206,091 (GRCm39) noncoding transcript Het
Wwc2 T A 8: 48,316,974 (GRCm39) R706S unknown Het
Xpot A C 10: 121,447,433 (GRCm39) I114S probably damaging Het
Zfp777 T A 6: 48,020,918 (GRCm39) S279C probably damaging Het
Other mutations in Neu3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01149:Neu3 APN 7 99,463,087 (GRCm39) missense probably benign 0.00
IGL01338:Neu3 APN 7 99,462,629 (GRCm39) missense probably damaging 1.00
R0395:Neu3 UTSW 7 99,462,985 (GRCm39) missense probably benign
R0519:Neu3 UTSW 7 99,472,524 (GRCm39) splice site probably benign
R0555:Neu3 UTSW 7 99,463,390 (GRCm39) missense probably damaging 1.00
R1659:Neu3 UTSW 7 99,462,640 (GRCm39) missense probably damaging 0.99
R1706:Neu3 UTSW 7 99,472,563 (GRCm39) missense probably damaging 0.99
R1893:Neu3 UTSW 7 99,472,627 (GRCm39) missense possibly damaging 0.81
R2271:Neu3 UTSW 7 99,462,650 (GRCm39) missense probably benign 0.00
R2472:Neu3 UTSW 7 99,462,614 (GRCm39) missense probably damaging 1.00
R4962:Neu3 UTSW 7 99,472,615 (GRCm39) missense probably damaging 1.00
R5589:Neu3 UTSW 7 99,472,636 (GRCm39) missense probably benign 0.01
R5932:Neu3 UTSW 7 99,462,525 (GRCm39) nonsense probably null
R6307:Neu3 UTSW 7 99,462,929 (GRCm39) missense probably benign
R7072:Neu3 UTSW 7 99,463,404 (GRCm39) nonsense probably null
R7099:Neu3 UTSW 7 99,463,027 (GRCm39) missense possibly damaging 0.51
R7582:Neu3 UTSW 7 99,463,174 (GRCm39) missense probably benign 0.02
R8057:Neu3 UTSW 7 99,463,435 (GRCm39) missense probably benign 0.08
R8497:Neu3 UTSW 7 99,472,342 (GRCm39) splice site probably null
X0023:Neu3 UTSW 7 99,462,811 (GRCm39) missense probably benign 0.00
Posted On 2013-12-03