Incidental Mutation 'IGL02367:Neu4'
ID290761
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Neu4
Ensembl Gene ENSMUSG00000034000
Gene Namesialidase 4
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02367
Quality Score
Status
Chromosome1
Chromosomal Location94020451-94028334 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 94024491 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 194 (R194L)
Ref Sequence ENSEMBL: ENSMUSP00000140127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050890] [ENSMUST00000190212]
Predicted Effect probably damaging
Transcript: ENSMUST00000050890
AA Change: R171L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000051151
Gene: ENSMUSG00000034000
AA Change: R171L

DomainStartEndE-ValueType
Pfam:BNR_3 24 256 5.8e-10 PFAM
Pfam:BNR_2 34 270 2e-29 PFAM
SCOP:d3sil__ 371 448 4e-12 SMART
PDB:2F13|A 371 455 8e-12 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000190212
AA Change: R194L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140127
Gene: ENSMUSG00000034000
AA Change: R194L

DomainStartEndE-ValueType
Pfam:BNR_3 47 279 1.6e-6 PFAM
Pfam:BNR_2 58 304 4.6e-25 PFAM
SCOP:d3sil__ 394 471 4e-12 SMART
PDB:2F29|B 394 478 1e-11 PDB
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 belongs to a family of glycohydrolytic enzymes, which remove terminal sialic acid residues from various sialo derivatives, such as glycoproteins, glycolipids, oligosaccharides, and gangliosides. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a null allele are largely normal except increased lipid content in the lung and liver and vacuolization indicative of lysosomal storage disorder. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T C 15: 82,065,547 L1215P probably benign Het
Angptl7 T C 4: 148,500,144 N49S possibly damaging Het
Asns A G 6: 7,685,411 probably benign Het
Atr T A 9: 95,899,141 Y1419* probably null Het
Bptf A T 11: 107,073,352 I1672N probably benign Het
Chd1 A G 17: 17,390,053 T490A probably damaging Het
Cyfip2 A T 11: 46,276,905 C223* probably null Het
Ddr1 G A 17: 35,683,480 A801V probably damaging Het
Dnah12 T C 14: 26,709,161 V308A probably benign Het
Dync2h1 A G 9: 7,158,926 V703A probably damaging Het
Fgd3 A G 13: 49,287,326 F210L probably damaging Het
Gm10020 T C 15: 52,477,972 noncoding transcript Het
Gm6526 T G 14: 43,750,805 V171G probably damaging Het
Grin3a A G 4: 49,702,805 Y894H probably damaging Het
Grm3 C A 5: 9,511,660 C730F probably damaging Het
Habp4 C A 13: 64,174,091 P181T probably damaging Het
Hdac4 A G 1: 91,958,449 probably benign Het
Ints5 A G 19: 8,895,595 D306G probably benign Het
Mb21d1 G A 9: 78,434,385 T370I probably benign Het
Mid2 T A X: 140,736,496 I273N probably damaging Het
Ndufs2 A T 1: 171,239,365 Y114* probably null Het
Ntng1 A T 3: 110,135,513 probably null Het
Nub1 A G 5: 24,689,394 M1V probably null Het
Olfml2a A G 2: 38,954,668 T379A probably benign Het
Olfr311 A T 11: 58,841,512 I133F probably benign Het
Pex3 G T 10: 13,524,899 Q303K probably benign Het
Pmp2 A T 3: 10,182,500 I43N probably damaging Het
Pnliprp1 T A 19: 58,738,169 D319E probably benign Het
Rap1gap2 A T 11: 74,397,355 probably null Het
Rwdd3 A G 3: 121,159,030 V104A probably damaging Het
Sbf1 A T 15: 89,307,572 V157E probably damaging Het
Slc4a11 T A 2: 130,684,959 I750F probably damaging Het
Tcea1 G A 1: 4,878,133 probably null Het
Ush2a A T 1: 188,784,746 M3218L probably benign Het
Utp20 G A 10: 88,771,853 probably benign Het
Zfp493 T A 13: 67,786,970 Y347* probably null Het
Zswim6 T C 13: 107,744,102 noncoding transcript Het
Other mutations in Neu4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03348:Neu4 APN 1 94024974 missense possibly damaging 0.77
R0018:Neu4 UTSW 1 94025338 missense probably benign 0.00
R0018:Neu4 UTSW 1 94025338 missense probably benign 0.00
R0645:Neu4 UTSW 1 94022469 missense probably damaging 1.00
R0813:Neu4 UTSW 1 94022876 frame shift probably null
R0814:Neu4 UTSW 1 94022876 frame shift probably null
R2056:Neu4 UTSW 1 94022450 missense possibly damaging 0.77
R4354:Neu4 UTSW 1 94024557 missense probably damaging 1.00
R4922:Neu4 UTSW 1 94022478 missense probably damaging 0.98
R5156:Neu4 UTSW 1 94024455 missense probably damaging 1.00
R5268:Neu4 UTSW 1 94024947 missense probably benign 0.18
R5447:Neu4 UTSW 1 94022418 missense probably damaging 1.00
R5862:Neu4 UTSW 1 94022930 missense probably benign 0.20
R6280:Neu4 UTSW 1 94025151 missense probably damaging 1.00
R6697:Neu4 UTSW 1 94025030 missense probably benign 0.00
R7192:Neu4 UTSW 1 94025141 missense probably benign 0.01
Posted On2015-04-16