Incidental Mutation 'R5862:Neu4'
ID 453949
Institutional Source Beutler Lab
Gene Symbol Neu4
Ensembl Gene ENSMUSG00000034000
Gene Name sialidase 4
Synonyms
MMRRC Submission 043231-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5862 (G1)
Quality Score 122
Status Not validated
Chromosome 1
Chromosomal Location 93948215-93956056 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93950652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 147 (I147V)
Ref Sequence ENSEMBL: ENSMUSP00000051151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050890] [ENSMUST00000190212]
AlphaFold Q8BZL1
Predicted Effect probably benign
Transcript: ENSMUST00000050890
AA Change: I147V

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000051151
Gene: ENSMUSG00000034000
AA Change: I147V

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: I170V

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000140127
Gene: ENSMUSG00000034000
AA Change: I170V

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 A G 1: 179,615,895 (GRCm39) Y326H probably damaging Het
Alpk2 T A 18: 65,440,360 (GRCm39) K811N probably damaging Het
Ap3b1 T A 13: 94,684,278 (GRCm39) M1014K unknown Het
Bphl G A 13: 34,247,967 (GRCm39) V247I possibly damaging Het
C6 A T 15: 4,764,745 (GRCm39) D147V possibly damaging Het
Clec18a G A 8: 111,808,190 (GRCm39) H71Y possibly damaging Het
Cse1l A G 2: 166,757,127 (GRCm39) T10A probably benign Het
Cyp2b9 G T 7: 25,887,232 (GRCm39) G214C probably benign Het
Dctn6 A T 8: 34,575,571 (GRCm39) probably null Het
Dnaja4 G T 9: 54,606,625 (GRCm39) probably benign Het
Dpp8 A T 9: 64,953,004 (GRCm39) S227C probably benign Het
Ecel1 T C 1: 87,077,318 (GRCm39) N630S probably benign Het
Etnppl T C 3: 130,425,473 (GRCm39) V426A possibly damaging Het
Golgb1 A T 16: 36,746,453 (GRCm39) silent Het
Hapln3 A T 7: 78,771,639 (GRCm39) H83Q possibly damaging Het
Hmgxb4 A G 8: 75,727,683 (GRCm39) K222R probably damaging Het
Hsf5 C A 11: 87,513,817 (GRCm39) T294K probably damaging Het
Ighv12-2 A G 12: 114,091,557 (GRCm39) noncoding transcript Het
Lrch3 A T 16: 32,816,179 (GRCm39) H587L probably damaging Het
Macroh2a1 T A 13: 56,222,084 (GRCm39) I359L probably damaging Het
Mboat1 C T 13: 30,419,680 (GRCm39) T339M probably damaging Het
Mief1 G A 15: 80,132,586 (GRCm39) R156Q probably benign Het
Ms4a6b T A 19: 11,499,167 (GRCm39) F94I probably benign Het
Neb T A 2: 52,069,554 (GRCm39) R307* probably null Het
Or5m9b T C 2: 85,905,990 (GRCm39) I302T probably benign Het
Pcyox1 A G 6: 86,368,656 (GRCm39) probably null Het
Pik3ap1 T A 19: 41,320,784 (GRCm39) D145V probably damaging Het
Pja2 T C 17: 64,604,821 (GRCm39) D454G probably benign Het
Plekhg1 C T 10: 3,887,914 (GRCm39) T281M probably damaging Het
Ptprq T C 10: 107,401,739 (GRCm39) I1918V probably benign Het
Rasgef1a A C 6: 118,057,405 (GRCm39) R35S probably benign Het
Rnf167 A G 11: 70,541,918 (GRCm39) T308A probably damaging Het
Sfmbt2 C T 2: 10,406,863 (GRCm39) T54I possibly damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Shkbp1 G T 7: 27,042,829 (GRCm39) S536* probably null Het
Taf2 C A 15: 54,911,719 (GRCm39) V566L possibly damaging Het
Tmed6 G T 8: 107,790,786 (GRCm39) T87K probably damaging Het
Tyms A T 5: 30,268,408 (GRCm39) D97E probably damaging Het
Usp20 T A 2: 30,896,461 (GRCm39) L188* probably null Het
Zbtb10 T A 3: 9,330,276 (GRCm39) S545T probably damaging Het
Zscan29 G T 2: 120,994,518 (GRCm39) T489N probably damaging Het
Other mutations in Neu4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02367:Neu4 APN 1 93,952,213 (GRCm39) missense probably damaging 1.00
IGL03348:Neu4 APN 1 93,952,696 (GRCm39) missense possibly damaging 0.77
R0018:Neu4 UTSW 1 93,953,060 (GRCm39) missense probably benign 0.00
R0018:Neu4 UTSW 1 93,953,060 (GRCm39) missense probably benign 0.00
R0645:Neu4 UTSW 1 93,950,191 (GRCm39) missense probably damaging 1.00
R0813:Neu4 UTSW 1 93,950,598 (GRCm39) frame shift probably null
R0814:Neu4 UTSW 1 93,950,598 (GRCm39) frame shift probably null
R2056:Neu4 UTSW 1 93,950,172 (GRCm39) missense possibly damaging 0.77
R4354:Neu4 UTSW 1 93,952,279 (GRCm39) missense probably damaging 1.00
R4922:Neu4 UTSW 1 93,950,200 (GRCm39) missense probably damaging 0.98
R5156:Neu4 UTSW 1 93,952,177 (GRCm39) missense probably damaging 1.00
R5268:Neu4 UTSW 1 93,952,669 (GRCm39) missense probably benign 0.18
R5447:Neu4 UTSW 1 93,950,140 (GRCm39) missense probably damaging 1.00
R6280:Neu4 UTSW 1 93,952,873 (GRCm39) missense probably damaging 1.00
R6697:Neu4 UTSW 1 93,952,752 (GRCm39) missense probably benign 0.00
R7192:Neu4 UTSW 1 93,952,863 (GRCm39) missense probably benign 0.01
R7533:Neu4 UTSW 1 93,950,122 (GRCm39) missense probably benign 0.38
R9395:Neu4 UTSW 1 93,950,218 (GRCm39) missense probably damaging 1.00
Z1176:Neu4 UTSW 1 93,952,972 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- CACAGGTCTATGAACCCTTGC -3'
(R):5'- ACAGTGTTAGGAGGTCATTGCTC -3'

Sequencing Primer
(F):5'- TATGAACCCTTGCCCGGTG -3'
(R):5'- AGGAGGTCATTGCTCTCAGG -3'
Posted On 2017-02-10