Incidental Mutation 'R3799:Nans'
ID 272872
Institutional Source Beutler Lab
Gene Symbol Nans
Ensembl Gene ENSMUSG00000028334
Gene Name N-acetylneuraminic acid synthase (sialic acid synthase)
Synonyms 4632418E04Rik, N-acetylneuraminic acid phosphate synthase, Sas
MMRRC Submission 040877-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.893) question?
Stock # R3799 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 46489319-46503439 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46492839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 89 (E89G)
Ref Sequence ENSEMBL: ENSMUSP00000030018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030018] [ENSMUST00000184112]
AlphaFold Q99J77
Predicted Effect probably benign
Transcript: ENSMUST00000030018
AA Change: E89G

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000030018
Gene: ENSMUSG00000028334
AA Change: E89G

DomainStartEndE-ValueType
Pfam:NeuB 39 278 4.7e-81 PFAM
SAF 292 351 2.38e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082476
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132345
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136978
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137874
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150584
Predicted Effect probably benign
Transcript: ENSMUST00000184112
SMART Domains Protein: ENSMUSP00000138876
Gene: ENSMUSG00000039853

DomainStartEndE-ValueType
BBOX 17 59 1.84e-8 SMART
low complexity region 115 126 N/A INTRINSIC
Meta Mutation Damage Score 0.7562 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 97% (35/36)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that functions in the biosynthetic pathways of sialic acids. In vitro, the encoded protein uses N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of N-acetylneuraminic acid (Neu5Ac) and 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN), respectively; however, it exhibits much higher activity toward the Neu5Ac phosphate product. In insect cells, expression of this gene results in Neu5Ac and KDN production. This gene is related to the E. coli sialic acid synthase gene neuB, and it can partially restore sialic acid synthase activity in an E. coli neuB-negative mutant. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 A G 4: 128,660,863 (GRCm39) T140A probably damaging Het
Adgrf3 T C 5: 30,401,821 (GRCm39) I736V possibly damaging Het
Alpk3 C A 7: 80,742,501 (GRCm39) P773T probably benign Het
Ccna1 G T 3: 54,958,040 (GRCm39) T155K probably benign Het
Cops7a C T 6: 124,936,795 (GRCm39) R252H probably damaging Het
Dnah12 T C 14: 26,492,880 (GRCm39) W1214R probably damaging Het
Ehbp1l1 A G 19: 5,769,143 (GRCm39) V720A probably benign Het
Exog T G 9: 119,278,876 (GRCm39) N186K probably damaging Het
Fgfr1 G A 8: 26,062,453 (GRCm39) D663N probably damaging Het
Flnc G A 6: 29,443,738 (GRCm39) V587M probably damaging Het
Gm1527 A G 3: 28,980,745 (GRCm39) N615S possibly damaging Het
Gm5799 G A 14: 43,781,150 (GRCm39) G17E probably damaging Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Mastl T C 2: 23,030,504 (GRCm39) probably benign Het
Mogat1 A G 1: 78,505,775 (GRCm39) I216V probably benign Het
Nuggc T A 14: 65,857,087 (GRCm39) M396K probably benign Het
Nup214 T C 2: 31,924,694 (GRCm39) F236S probably damaging Het
Osbp2 T C 11: 3,667,883 (GRCm39) E145G probably damaging Het
Paqr3 T C 5: 97,259,175 (GRCm39) N43S probably damaging Het
Pard3b A G 1: 62,200,388 (GRCm39) N309S probably benign Het
Phrf1 C T 7: 140,839,831 (GRCm39) R243* probably null Het
Ralgapa1 T C 12: 55,705,915 (GRCm39) Y1869C probably damaging Het
Setd2 T C 9: 110,378,639 (GRCm39) V818A probably benign Het
Slc35g3 A G 11: 69,651,743 (GRCm39) F103L probably benign Het
Tcaf3 T C 6: 42,574,014 (GRCm39) E66G probably damaging Het
Tdpoz8 A T 3: 92,981,393 (GRCm39) D137V probably damaging Het
Tmem8b A G 4: 43,673,892 (GRCm39) probably benign Het
Trpa1 T C 1: 14,963,488 (GRCm39) N578S possibly damaging Het
Vmn2r25 A T 6: 123,830,143 (GRCm39) L3I probably benign Het
Vmn2r76 T C 7: 85,875,244 (GRCm39) T578A probably benign Het
Vwa8 T A 14: 79,302,336 (GRCm39) F1002I probably damaging Het
Xdh T C 17: 74,214,653 (GRCm39) E764G probably damaging Het
Zfp518a G T 19: 40,903,754 (GRCm39) V1228F probably damaging Het
Other mutations in Nans
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1016:Nans UTSW 4 46,500,716 (GRCm39) missense probably benign 0.23
R1192:Nans UTSW 4 46,502,430 (GRCm39) intron probably benign
R1493:Nans UTSW 4 46,500,761 (GRCm39) missense probably damaging 1.00
R1912:Nans UTSW 4 46,500,162 (GRCm39) missense probably damaging 1.00
R4980:Nans UTSW 4 46,492,764 (GRCm39) missense probably benign 0.03
R5212:Nans UTSW 4 46,502,547 (GRCm39) missense possibly damaging 0.56
R5723:Nans UTSW 4 46,499,083 (GRCm39) missense probably benign 0.08
R5854:Nans UTSW 4 46,500,180 (GRCm39) missense probably damaging 1.00
R5990:Nans UTSW 4 46,489,441 (GRCm39) missense probably damaging 0.99
R7474:Nans UTSW 4 46,502,484 (GRCm39) missense probably damaging 1.00
R8439:Nans UTSW 4 46,492,814 (GRCm39) missense probably damaging 0.99
R9784:Nans UTSW 4 46,499,129 (GRCm39) missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- GTACATGTGCACACACCTGC -3'
(R):5'- TCTTGGACCCAATACAGGTGAAC -3'

Sequencing Primer
(F):5'- CTGGTCTACATAGCAAGTTCCAGG -3'
(R):5'- CCAATACAGGTGAACAAGAGCCG -3'
Posted On 2015-03-25