Incidental Mutation 'R0646:Neu1'
ID 57222
Institutional Source Beutler Lab
Gene Symbol Neu1
Ensembl Gene ENSMUSG00000007038
Gene Name neuraminidase 1
Synonyms Apl, Neu-1, sialidase 1, lysosomal sialidase, G9, Map-2, Bat-7, Bat7, Aglp
MMRRC Submission 038831-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0646 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 34931253-34935953 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34934760 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 387 (Y387N)
Ref Sequence ENSEMBL: ENSMUSP00000007253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007249] [ENSMUST00000007253] [ENSMUST00000169230]
AlphaFold O35657
Predicted Effect probably benign
Transcript: ENSMUST00000007249
SMART Domains Protein: ENSMUSP00000007249
Gene: ENSMUSG00000007034

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 damaging
Transcript: ENSMUST00000007253
AA Change: Y387N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000007253
Gene: ENSMUSG00000007038
AA Change: Y387N

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

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
Meta Mutation Damage Score 0.9249 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 95% (123/130)
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: 125 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik C T 11: 23,575,491 (GRCm38) R716H probably damaging Het
4930432E11Rik C T 7: 29,561,285 (GRCm38) noncoding transcript Het
A430078G23Rik T C 8: 3,386,959 (GRCm38) Y250H probably damaging Het
Abcb11 A G 2: 69,285,283 (GRCm38) I579T probably damaging Het
Abcc9 T C 6: 142,682,104 (GRCm38) N400S probably benign Het
Adarb2 T C 13: 8,731,819 (GRCm38) L577P probably damaging Het
Agt A C 8: 124,557,113 (GRCm38) N422K probably damaging Het
Ahnak A T 19: 9,013,402 (GRCm38) K4017* probably null Het
Akap13 C A 7: 75,747,746 (GRCm38) Q2575K probably damaging Het
Aldh3a2 A T 11: 61,253,715 (GRCm38) I339K probably damaging Het
Alox15 G T 11: 70,345,624 (GRCm38) Y483* probably null Het
Ampd1 A T 3: 103,099,597 (GRCm38) I713F probably damaging Het
Amph A T 13: 19,113,116 (GRCm38) E344V possibly damaging Het
Arid5b A G 10: 68,096,977 (GRCm38) S1032P probably damaging Het
Armc8 C A 9: 99,505,688 (GRCm38) L393F probably damaging Het
Bpnt1 A G 1: 185,345,426 (GRCm38) probably null Het
Cachd1 G A 4: 100,988,221 (GRCm38) R970H probably damaging Het
Cd207 T C 6: 83,675,756 (GRCm38) T131A probably benign Het
Cd83 G A 13: 43,797,533 (GRCm38) V54I probably benign Het
Cfap43 T C 19: 47,763,676 (GRCm38) K1086E probably benign Het
Cfap65 A T 1: 74,902,169 (GRCm38) V1837E probably benign Het
Clcnka T A 4: 141,396,606 (GRCm38) H89L probably benign Het
Cnga4 T C 7: 105,404,975 (GRCm38) I50T possibly damaging Het
Cog5 A G 12: 31,837,359 (GRCm38) probably benign Het
Col11a2 T A 17: 34,059,348 (GRCm38) probably null Het
Col28a1 T G 6: 8,175,291 (GRCm38) I186L possibly damaging Het
Col4a2 T A 8: 11,431,252 (GRCm38) M808K probably benign Het
Copb2 A G 9: 98,563,475 (GRCm38) probably benign Het
Dbnl G A 11: 5,795,441 (GRCm38) probably benign Het
Dbx2 T C 15: 95,654,612 (GRCm38) T51A possibly damaging Het
Dcp1a A T 14: 30,502,885 (GRCm38) M123L probably damaging Het
Ddx42 T A 11: 106,232,833 (GRCm38) F217I probably benign Het
Dlc1 T C 8: 36,858,051 (GRCm38) T367A probably benign Het
Dmgdh A T 13: 93,752,355 (GRCm38) T834S probably benign Het
Dnah8 T C 17: 30,684,173 (GRCm38) S929P probably damaging Het
Dnase1l2 C A 17: 24,441,082 (GRCm38) V271L possibly damaging Het
Dsc1 T C 18: 20,096,057 (GRCm38) Y392C probably damaging Het
Edn1 T C 13: 42,305,242 (GRCm38) probably benign Het
Eps8l3 T C 3: 107,884,810 (GRCm38) L351P probably damaging Het
F12 G A 13: 55,422,483 (GRCm38) probably benign Het
Fam47e T C 5: 92,578,458 (GRCm38) probably benign Het
Fcrl5 C A 3: 87,442,013 (GRCm38) Q32K probably benign Het
Fndc1 C T 17: 7,741,673 (GRCm38) V1637I possibly damaging Het
Foxg1 G T 12: 49,384,567 (GRCm38) probably benign Het
Frrs1 A T 3: 116,902,421 (GRCm38) I530F possibly damaging Het
Galnt5 A T 2: 57,999,085 (GRCm38) K232N probably benign Het
Ggt5 G A 10: 75,602,648 (GRCm38) V68M probably damaging Het
Gm11639 G A 11: 104,720,501 (GRCm38) D390N probably benign Het
Gm13084 A C 4: 143,812,585 (GRCm38) S113A possibly damaging Het
Gm16519 T C 17: 70,929,106 (GRCm38) C17R probably benign Het
Gm17535 A G 9: 3,035,804 (GRCm38) Y224C probably null Het
Gm884 T A 11: 103,613,160 (GRCm38) K485* probably null Het
Gm9631 T G 11: 121,945,629 (GRCm38) D28A probably damaging Het
Gpx2 T C 12: 76,795,313 (GRCm38) I21M probably benign Het
H2-Q2 T G 17: 35,345,685 (GRCm38) D354E probably damaging Het
Icam2 A T 11: 106,380,891 (GRCm38) I71K probably damaging Het
Il12a T C 3: 68,697,890 (GRCm38) probably benign Het
Insm2 C G 12: 55,600,440 (GRCm38) A323G probably benign Het
Itga1 T C 13: 114,968,299 (GRCm38) T1064A probably benign Het
Itgad T A 7: 128,174,004 (GRCm38) V11E possibly damaging Het
Kctd15 C T 7: 34,644,881 (GRCm38) S115N probably damaging Het
Klra5 A G 6: 129,903,564 (GRCm38) W124R probably damaging Het
Kng2 T A 16: 22,987,736 (GRCm38) D571V probably benign Het
Kpna6 A T 4: 129,650,790 (GRCm38) F380I probably benign Het
Lipo1 A T 19: 33,784,769 (GRCm38) Y109* probably null Het
Man2a2 T C 7: 80,363,197 (GRCm38) H540R possibly damaging Het
Map2k4 T C 11: 65,712,275 (GRCm38) E188G probably damaging Het
Mast4 T C 13: 102,758,744 (GRCm38) probably benign Het
Mbtd1 A G 11: 93,905,212 (GRCm38) D25G probably damaging Het
Med13 T A 11: 86,331,089 (GRCm38) Q238L possibly damaging Het
Mmachc A G 4: 116,703,654 (GRCm38) Y215H probably damaging Het
Mtor T A 4: 148,484,354 (GRCm38) Y1110* probably null Het
Nek2 A G 1: 191,822,219 (GRCm38) N57D probably damaging Het
Nek7 ACCCC ACCC 1: 138,515,693 (GRCm38) probably null Het
Neo1 G T 9: 58,931,034 (GRCm38) T489K probably damaging Het
Nfasc A T 1: 132,608,438 (GRCm38) C586* probably null Het
Nle1 G A 11: 82,904,845 (GRCm38) L259F probably damaging Het
Nrde2 G A 12: 100,143,846 (GRCm38) Q309* probably null Het
Nufip2 C T 11: 77,686,453 (GRCm38) H76Y probably benign Het
Olfr1330 A C 4: 118,893,490 (GRCm38) T136P probably damaging Het
Olfr1383 A T 11: 49,524,578 (GRCm38) N285I probably damaging Het
Olfr466 A T 13: 65,153,063 (GRCm38) I280F probably damaging Het
Olfr584 T C 7: 103,086,151 (GRCm38) F206S probably damaging Het
Olfr670 A T 7: 104,959,811 (GRCm38) I307N probably benign Het
Olfr731 A T 14: 50,238,639 (GRCm38) I82N probably damaging Het
Pcdhb5 A G 18: 37,321,622 (GRCm38) T352A probably benign Het
Pcdhb7 A T 18: 37,343,389 (GRCm38) D526V probably damaging Het
Phkg1 A T 5: 129,864,553 (GRCm38) probably null Het
Plg C T 17: 12,418,736 (GRCm38) T744M probably damaging Het
Plxnd1 A C 6: 115,958,699 (GRCm38) probably benign Het
Poglut1 A T 16: 38,529,475 (GRCm38) I312N probably damaging Het
Ppp1r16a C T 15: 76,690,799 (GRCm38) probably benign Het
Ppt1 A G 4: 122,844,099 (GRCm38) M77V probably benign Het
Pramel5 G T 4: 144,271,620 (GRCm38) T351N probably damaging Het
Psmb4 G A 3: 94,884,964 (GRCm38) R216C probably benign Het
Ptprd T C 4: 76,084,403 (GRCm38) T699A probably damaging Het
Retreg3 A T 11: 101,098,629 (GRCm38) probably benign Het
Scaper G A 9: 55,758,056 (GRCm38) A389V probably damaging Het
Serinc5 G A 13: 92,688,737 (GRCm38) D225N possibly damaging Het
Slco1a1 T G 6: 141,925,754 (GRCm38) probably benign Het
Snapc1 C T 12: 73,975,032 (GRCm38) R81C probably damaging Het
Sod3 A T 5: 52,368,079 (GRCm38) D40V probably benign Het
Sorcs3 C A 19: 48,206,295 (GRCm38) A39E probably benign Het
Spon1 A T 7: 114,039,821 (GRCm38) T761S probably benign Het
Syde2 A G 3: 146,014,249 (GRCm38) probably null Het
Synm T A 7: 67,759,168 (GRCm38) D154V probably benign Het
Synpo2 T C 3: 123,114,449 (GRCm38) E406G probably damaging Het
Tcea3 T A 4: 136,248,071 (GRCm38) L8* probably null Het
Tec G A 5: 72,823,497 (GRCm38) L33F probably damaging Het
Tex15 T A 8: 33,582,326 (GRCm38) S2634T possibly damaging Het
Tg T A 15: 66,729,626 (GRCm38) Y162N probably damaging Het
Tmem8b G A 4: 43,690,123 (GRCm38) V853I probably benign Het
Togaram1 A G 12: 65,021,466 (GRCm38) K1748E probably damaging Het
Ttn T C 2: 76,898,478 (GRCm38) probably benign Het
Usp36 C T 11: 118,273,021 (GRCm38) D234N probably damaging Het
Usp40 G A 1: 87,978,522 (GRCm38) P664S probably benign Het
Vmn1r54 T A 6: 90,269,653 (GRCm38) L183H probably benign Het
Vmn1r58 T G 7: 5,410,677 (GRCm38) I185L probably benign Het
Wnt8a A T 18: 34,547,565 (GRCm38) R328W probably benign Het
Yars A G 4: 129,213,939 (GRCm38) probably benign Het
Zbtb49 A C 5: 38,200,674 (GRCm38) M745R probably damaging Het
Zeb1 T G 18: 5,759,027 (GRCm38) F162V probably damaging Het
Zfp369 A T 13: 65,297,548 (GRCm38) H835L probably damaging Het
Zic5 A G 14: 122,463,939 (GRCm38) V460A unknown Het
Zp3 A G 5: 135,984,356 (GRCm38) N181D possibly damaging Het
Other mutations in Neu1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01607:Neu1 APN 17 34,934,716 (GRCm38) missense probably benign 0.34
IGL02197:Neu1 APN 17 34,934,665 (GRCm38) missense possibly damaging 0.92
IGL02442:Neu1 APN 17 34,934,469 (GRCm38) missense probably benign
IGL02545:Neu1 APN 17 34,931,501 (GRCm38) missense probably benign 0.41
FR4340:Neu1 UTSW 17 34,932,558 (GRCm38) unclassified probably benign
R0331:Neu1 UTSW 17 34,934,170 (GRCm38) missense possibly damaging 0.62
R0508:Neu1 UTSW 17 34,932,784 (GRCm38) missense probably benign 0.07
R0683:Neu1 UTSW 17 34,934,325 (GRCm38) splice site probably null
R1300:Neu1 UTSW 17 34,934,338 (GRCm38) missense possibly damaging 0.87
R1545:Neu1 UTSW 17 34,934,398 (GRCm38) missense probably benign 0.00
R1552:Neu1 UTSW 17 34,932,113 (GRCm38) unclassified probably benign
R2107:Neu1 UTSW 17 34,934,398 (GRCm38) missense probably benign 0.00
R2108:Neu1 UTSW 17 34,934,398 (GRCm38) missense probably benign 0.00
R2279:Neu1 UTSW 17 34,934,374 (GRCm38) missense probably damaging 1.00
R2291:Neu1 UTSW 17 34,932,766 (GRCm38) missense probably damaging 1.00
R2895:Neu1 UTSW 17 34,932,782 (GRCm38) missense probably benign 0.08
R4747:Neu1 UTSW 17 34,934,383 (GRCm38) missense possibly damaging 0.77
R6010:Neu1 UTSW 17 34,932,055 (GRCm38) missense probably damaging 1.00
R6122:Neu1 UTSW 17 34,934,754 (GRCm38) missense probably benign 0.00
R8490:Neu1 UTSW 17 34,932,006 (GRCm38) missense probably benign 0.00
R9257:Neu1 UTSW 17 34,931,420 (GRCm38) missense probably benign 0.00
R9591:Neu1 UTSW 17 34,931,498 (GRCm38) missense probably benign 0.28
RF034:Neu1 UTSW 17 34,932,558 (GRCm38) unclassified probably benign
RF045:Neu1 UTSW 17 34,932,558 (GRCm38) unclassified probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-07-11