Incidental Mutation 'R2279:Neu1'
ID 243007
Institutional Source Beutler Lab
Gene Symbol Neu1
Ensembl Gene ENSMUSG00000007038
Gene Name neuraminidase 1
Synonyms sialidase 1, Bat7, Map-2, Aglp, lysosomal sialidase, G9, Apl, Neu-1, Bat-7
MMRRC Submission 040278-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2279 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 35150229-35154929 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35153350 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 291 (D291G)
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

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 damaging
Transcript: ENSMUST00000007253
AA Change: D291G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000007253
Gene: ENSMUSG00000007038
AA Change: D291G

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
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd17 G T 5: 90,412,576 (GRCm39) N1249K probably damaging Het
Anks1b T C 10: 89,885,958 (GRCm39) M218T probably damaging Het
Arfgef2 G C 2: 166,707,679 (GRCm39) G1025A probably benign Het
Arhgap21 T C 2: 20,868,037 (GRCm39) I829V possibly damaging Het
Arhgap42 T C 9: 9,035,512 (GRCm39) M277V probably benign Het
Cabin1 T C 10: 75,589,295 (GRCm39) I87M probably benign Het
Cdc42bpa A G 1: 179,864,484 (GRCm39) N149D probably damaging Het
Cdh20 C A 1: 104,875,139 (GRCm39) A307E probably damaging Het
Cdk18 A T 1: 132,043,690 (GRCm39) Y385N probably damaging Het
Cfap410 T C 10: 77,817,476 (GRCm39) Y68H probably damaging Het
Cnga1 C T 5: 72,776,404 (GRCm39) V20I possibly damaging Het
Cptp A G 4: 155,950,878 (GRCm39) I196T probably damaging Het
Cyp4b1 T A 4: 115,497,557 (GRCm39) Y147F probably benign Het
Dbf4 T C 5: 8,471,333 (GRCm39) N36S possibly damaging Het
Dbr1 G T 9: 99,462,200 (GRCm39) Q166H probably benign Het
Ddx42 T A 11: 106,133,765 (GRCm39) D580E probably damaging Het
Dnah17 T C 11: 117,987,387 (GRCm39) K1308E possibly damaging Het
Dpep1 A T 8: 123,920,883 (GRCm39) D21V probably benign Het
Dspp G A 5: 104,326,250 (GRCm39) S871N unknown Het
En1 T A 1: 120,534,916 (GRCm39) *402K probably null Het
Eogt G T 6: 97,111,262 (GRCm39) R200S probably benign Het
Epb41l3 A G 17: 69,577,645 (GRCm39) T542A possibly damaging Het
Fam50b C T 13: 34,930,823 (GRCm39) Q100* probably null Het
Gask1a T C 9: 121,794,668 (GRCm39) I274T probably benign Het
Gh T C 11: 106,191,613 (GRCm39) E143G probably damaging Het
Hcn3 C A 3: 89,055,168 (GRCm39) R693L probably benign Het
Htra1 A T 7: 130,563,752 (GRCm39) I208F probably damaging Het
Ifna13 T A 4: 88,562,156 (GRCm39) E156V probably benign Het
Ints6 A G 14: 62,942,131 (GRCm39) probably null Het
Kifc5b A G 17: 27,144,515 (GRCm39) I545V probably damaging Het
Lrrc4c C T 2: 97,460,850 (GRCm39) S492F possibly damaging Het
Madd A T 2: 90,974,028 (GRCm39) C1419S possibly damaging Het
Map2k6 T C 11: 110,390,290 (GRCm39) S275P probably damaging Het
Mpp2 T C 11: 101,955,127 (GRCm39) E166G probably damaging Het
Mrpl48 G A 7: 100,214,471 (GRCm39) T48I probably damaging Het
Nktr A G 9: 121,560,603 (GRCm39) K116E possibly damaging Het
Npc1 T C 18: 12,330,236 (GRCm39) probably null Het
Or6b9 A T 7: 106,555,834 (GRCm39) M103K probably benign Het
Or6c1b A T 10: 129,273,526 (GRCm39) M282L probably benign Het
Or8k1 T C 2: 86,047,148 (GRCm39) E302G probably benign Het
Pclo T A 5: 14,764,287 (GRCm39) D4253E unknown Het
Phactr1 A T 13: 43,231,265 (GRCm39) S244C possibly damaging Het
Prex1 A T 2: 166,419,875 (GRCm39) I79N probably benign Het
Rhebl1 A T 15: 98,776,167 (GRCm39) D162E probably benign Het
Rnf32 G T 5: 29,430,278 (GRCm39) V366F probably benign Het
Rpn2 A G 2: 157,152,208 (GRCm39) T394A possibly damaging Het
Ryr3 A T 2: 112,479,664 (GRCm39) M4386K possibly damaging Het
Sirt7 T C 11: 120,515,321 (GRCm39) S112G probably damaging Het
Slc1a6 A T 10: 78,624,882 (GRCm39) M96L probably benign Het
Slc25a29 T C 12: 108,792,852 (GRCm39) E242G probably benign Het
Slc30a2 G T 4: 134,075,857 (GRCm39) Q210H probably benign Het
Sorcs2 A T 5: 36,199,430 (GRCm39) probably null Het
Spink5 A G 18: 44,119,396 (GRCm39) N236D probably benign Het
Syne2 A G 12: 75,974,240 (GRCm39) E1146G possibly damaging Het
Sytl3 A G 17: 6,976,273 (GRCm39) probably benign Het
Tasor A C 14: 27,164,452 (GRCm39) K253Q probably damaging Het
Tgm7 A G 2: 120,929,045 (GRCm39) S284P probably damaging Het
Tmem45a A T 16: 56,643,882 (GRCm39) L89Q probably damaging Het
Ttc23l A G 15: 10,523,678 (GRCm39) I347T possibly damaging Het
Txlna T C 4: 129,525,935 (GRCm39) E304G probably damaging Het
Zfp709 T C 8: 72,642,934 (GRCm39) V121A probably benign Het
Other mutations in Neu1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01607:Neu1 APN 17 35,153,692 (GRCm39) missense probably benign 0.34
IGL02197:Neu1 APN 17 35,153,641 (GRCm39) missense possibly damaging 0.92
IGL02442:Neu1 APN 17 35,153,445 (GRCm39) missense probably benign
IGL02545:Neu1 APN 17 35,150,477 (GRCm39) missense probably benign 0.41
FR4340:Neu1 UTSW 17 35,151,534 (GRCm39) unclassified probably benign
R0331:Neu1 UTSW 17 35,153,146 (GRCm39) missense possibly damaging 0.62
R0508:Neu1 UTSW 17 35,151,760 (GRCm39) missense probably benign 0.07
R0646:Neu1 UTSW 17 35,153,736 (GRCm39) missense probably damaging 1.00
R0683:Neu1 UTSW 17 35,153,301 (GRCm39) splice site probably null
R1300:Neu1 UTSW 17 35,153,314 (GRCm39) missense possibly damaging 0.87
R1545:Neu1 UTSW 17 35,153,374 (GRCm39) missense probably benign 0.00
R1552:Neu1 UTSW 17 35,151,089 (GRCm39) unclassified probably benign
R2107:Neu1 UTSW 17 35,153,374 (GRCm39) missense probably benign 0.00
R2108:Neu1 UTSW 17 35,153,374 (GRCm39) missense probably benign 0.00
R2291:Neu1 UTSW 17 35,151,742 (GRCm39) missense probably damaging 1.00
R2895:Neu1 UTSW 17 35,151,758 (GRCm39) missense probably benign 0.08
R4747:Neu1 UTSW 17 35,153,359 (GRCm39) missense possibly damaging 0.77
R6010:Neu1 UTSW 17 35,151,031 (GRCm39) missense probably damaging 1.00
R6122:Neu1 UTSW 17 35,153,730 (GRCm39) missense probably benign 0.00
R8490:Neu1 UTSW 17 35,150,982 (GRCm39) missense probably benign 0.00
R9257:Neu1 UTSW 17 35,150,396 (GRCm39) missense probably benign 0.00
R9591:Neu1 UTSW 17 35,150,474 (GRCm39) missense probably benign 0.28
RF034:Neu1 UTSW 17 35,151,534 (GRCm39) unclassified probably benign
RF045:Neu1 UTSW 17 35,151,534 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- ATTTCAACCCCGACGAGTGC -3'
(R):5'- TGTCCAGGACTTGTTCAGAC -3'

Sequencing Primer
(F):5'- CAGGTCAGGAGTCCATGGAC -3'
(R):5'- AGGACTTGTTCAGACGGGGC -3'
Posted On 2014-10-16