Incidental Mutation 'IGL02545:Neu1'
ID297797
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Neu1
Ensembl Gene ENSMUSG00000007038
Gene Nameneuraminidase 1
SynonymsApl, Neu-1, sialidase 1, lysosomal sialidase, G9, Map-2, Bat-7, Bat7, Aglp
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02545
Quality Score
Status
Chromosome17
Chromosomal Location34931253-34935953 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 34931501 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 32 (V32E)
Ref Sequence ENSEMBL: ENSMUSP00000007253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007249] [ENSMUST00000007253] [ENSMUST00000169230]
Predicted Effect probably benign
Transcript: ENSMUST00000007249
SMART Domains Protein: ENSMUSP00000007249
Gene: ENSMUSG00000007034

DomainStartEndE-ValueType
transmembrane domain 34 56 N/A INTRINSIC
low complexity region 93 102 N/A INTRINSIC
transmembrane domain 226 248 N/A INTRINSIC
transmembrane domain 250 272 N/A INTRINSIC
Pfam:Choline_transpo 311 674 5.4e-119 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000007253
AA Change: V32E

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000007253
Gene: ENSMUSG00000007038
AA Change: V32E

DomainStartEndE-ValueType
signal peptide 1 41 N/A INTRINSIC
Pfam:BNR_3 74 249 1e-16 PFAM
Pfam:BNR_2 82 377 1.8e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169230
SMART Domains Protein: ENSMUSP00000132965
Gene: ENSMUSG00000007034

DomainStartEndE-ValueType
transmembrane domain 74 96 N/A INTRINSIC
transmembrane domain 98 120 N/A INTRINSIC
Pfam:Choline_transpo 157 524 3.9e-129 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173269
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173664
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174715
Coding Region Coverage
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 lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mice develop features of early-onset lysosomal storage disease (sialidosis), including severe nephropathy, edema, splenomegaly, kyphosis and oligosacchariduria, and display myoclonus, lordosis, extramedullary hematopoiesis, dyspnea, weight loss, gait defects, tremors and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik T C 1: 160,075,424 L88P probably damaging Het
Adamtsl4 G A 3: 95,683,374 Q354* probably null Het
Aox3 A C 1: 58,183,486 D1146A probably damaging Het
Ap2a1 T A 7: 44,906,426 H340L probably damaging Het
Ccni G T 5: 93,187,777 F167L probably benign Het
Ctcf A G 8: 105,664,381 T207A probably benign Het
D930020B18Rik A G 10: 121,689,933 H580R possibly damaging Het
Dock3 A T 9: 107,062,072 L159Q probably damaging Het
Dync1i2 T C 2: 71,262,751 I630T possibly damaging Het
Fchsd2 A G 7: 101,198,508 T202A probably benign Het
Gdi2 A G 13: 3,557,009 Y214C probably damaging Het
Gna14 T A 19: 16,533,726 S46R probably damaging Het
Hfm1 A G 5: 106,895,287 I627T probably damaging Het
Ighv1-19 G A 12: 114,708,739 A87V probably damaging Het
Itch G A 2: 155,172,586 probably null Het
Klrb1b T C 6: 128,820,309 Q72R possibly damaging Het
Lrpprc A G 17: 84,775,425 F144L probably benign Het
Lrrc7 A G 3: 158,185,374 probably benign Het
Ndufa11 T A 17: 56,721,338 F72L probably damaging Het
Olfr181 T A 16: 58,926,470 I34F possibly damaging Het
Osmr T C 15: 6,823,579 K611E probably damaging Het
Pcdh20 A G 14: 88,468,844 V340A possibly damaging Het
Pih1d3 A G 1: 31,223,096 D53G probably damaging Het
Plxna2 T A 1: 194,786,690 probably benign Het
Pou6f1 C T 15: 100,583,425 W210* probably null Het
Ppat A G 5: 76,915,232 Y511H probably damaging Het
Psme4 T G 11: 30,841,586 V1147G possibly damaging Het
Scap C T 9: 110,378,690 T489I probably benign Het
Sptb A G 12: 76,607,980 probably null Het
Tcl1b5 T A 12: 105,180,037 probably benign Het
Trim54 T A 5: 31,132,165 probably benign Het
Unc13c C T 9: 73,481,075 R2143Q probably damaging Het
Vmn1r56 A T 7: 5,196,114 V168D probably benign Het
Vmn2r66 A T 7: 85,006,590 M406K possibly damaging Het
Other mutations in Neu1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01607:Neu1 APN 17 34934716 missense probably benign 0.34
IGL02197:Neu1 APN 17 34934665 missense possibly damaging 0.92
IGL02442:Neu1 APN 17 34934469 missense probably benign
FR4340:Neu1 UTSW 17 34932558 unclassified probably benign
R0331:Neu1 UTSW 17 34934170 missense possibly damaging 0.62
R0508:Neu1 UTSW 17 34932784 missense probably benign 0.07
R0646:Neu1 UTSW 17 34934760 missense probably damaging 1.00
R0683:Neu1 UTSW 17 34934325 unclassified probably null
R1300:Neu1 UTSW 17 34934338 missense possibly damaging 0.87
R1545:Neu1 UTSW 17 34934398 missense probably benign 0.00
R1552:Neu1 UTSW 17 34932113 unclassified probably benign
R2107:Neu1 UTSW 17 34934398 missense probably benign 0.00
R2108:Neu1 UTSW 17 34934398 missense probably benign 0.00
R2279:Neu1 UTSW 17 34934374 missense probably damaging 1.00
R2291:Neu1 UTSW 17 34932766 missense probably damaging 1.00
R2895:Neu1 UTSW 17 34932782 missense probably benign 0.08
R4747:Neu1 UTSW 17 34934383 missense possibly damaging 0.77
R6010:Neu1 UTSW 17 34932055 missense probably damaging 1.00
R6122:Neu1 UTSW 17 34934754 missense probably benign 0.00
RF034:Neu1 UTSW 17 34932558 unclassified probably benign
RF045:Neu1 UTSW 17 34932558 unclassified probably benign
Posted On2015-04-16