Incidental Mutation 'R0018:Neu4'
ID8401
Institutional Source Beutler Lab
Gene Symbol Neu4
Ensembl Gene ENSMUSG00000034000
Gene Namesialidase 4
Synonyms
MMRRC Submission 038313-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0018 (G1)
Quality Score
Status Validated
Chromosome1
Chromosomal Location94020451-94028334 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 94025338 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 476 (D476E)
Ref Sequence ENSEMBL: ENSMUSP00000140127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050890] [ENSMUST00000190212]
Predicted Effect probably benign
Transcript: ENSMUST00000050890
AA Change: D453E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000051151
Gene: ENSMUSG00000034000
AA Change: D453E

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 benign
Transcript: ENSMUST00000190212
AA Change: D476E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000140127
Gene: ENSMUSG00000034000
AA Change: D476E

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
Meta Mutation Damage Score 0.1108 question?
Coding Region Coverage
  • 1x: 82.8%
  • 3x: 76.3%
  • 10x: 59.3%
  • 20x: 41.5%
Validation Efficiency 90% (80/89)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2b4 T A 1: 133,717,871 I982F probably damaging Het
BC024139 G A 15: 76,120,887 Q592* probably null Het
Capn7 T A 14: 31,354,112 C290* probably null Het
Celsr1 T A 15: 86,031,042 D910V possibly damaging Het
Cpne2 T A 8: 94,556,053 C59S possibly damaging Het
Cyp2b13 G A 7: 26,085,950 R248H probably benign Het
Dennd1a T A 2: 37,858,460 T336S possibly damaging Het
Drc7 A G 8: 95,074,234 Y628C probably damaging Het
Dse A G 10: 34,153,468 V542A probably benign Het
Gria4 A G 9: 4,432,843 L780P possibly damaging Het
Gsx2 A G 5: 75,077,167 K260R probably damaging Het
Kat6a A G 8: 22,929,273 D684G possibly damaging Het
Kif27 T G 13: 58,288,053 I1309L probably benign Het
Me2 A T 18: 73,791,852 F265I possibly damaging Het
Myo9a A T 9: 59,871,724 T1588S probably benign Het
Nlrp9c T A 7: 26,371,998 Q895L possibly damaging Het
Nudt8 C T 19: 4,001,152 probably benign Het
Ppfia2 A G 10: 106,842,786 probably benign Het
Prkdc T C 16: 15,726,542 Y1799H probably benign Het
Psmc1 T C 12: 100,116,692 probably benign Het
Pus3 A G 9: 35,566,624 D384G probably benign Het
Rasa2 A G 9: 96,571,963 S307P probably damaging Het
Rbpms2 A G 9: 65,651,078 D142G probably damaging Het
Slc13a5 T C 11: 72,266,475 I31V probably benign Het
Slc15a4 A T 5: 127,602,010 I422N probably damaging Het
Slc26a6 G T 9: 108,858,922 probably null Het
Ufm1 A T 3: 53,859,196 I79N probably benign Het
Xdh C T 17: 73,925,025 R230H probably benign Het
Zfp418 A T 7: 7,182,450 S471C probably benign Het
Other mutations in Neu4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02367:Neu4 APN 1 94024491 missense probably damaging 1.00
IGL03348:Neu4 APN 1 94024974 missense possibly damaging 0.77
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 On2012-11-27