Incidental Mutation 'R5723:Nans'
ID 452310
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 043341-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.849) question?
Stock # R5723 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 46489319-46503439 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46499083 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 130 (F130S)
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: F130S

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000030018
Gene: ENSMUSG00000028334
AA Change: F130S

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 0.5454 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 98% (57/58)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,844,445 (GRCm39) D862G possibly damaging Het
Abcg2 C T 6: 58,655,336 (GRCm39) Q109* probably null Het
Acbd7 A G 2: 3,341,455 (GRCm39) Y33C probably damaging Het
Actl7a A G 4: 56,744,310 (GRCm39) D279G probably damaging Het
Akr1c18 A T 13: 4,194,328 (GRCm39) Y110* probably null Het
Akt1 T C 12: 112,623,704 (GRCm39) K276E probably damaging Het
Bcas2 A G 3: 103,084,608 (GRCm39) probably benign Het
C9 T A 15: 6,516,297 (GRCm39) Y367N probably damaging Het
Cd163 A G 6: 124,296,022 (GRCm39) T789A probably benign Het
Cers6 T A 2: 68,938,789 (GRCm39) S344T probably benign Het
Clcn4 A G 7: 7,294,681 (GRCm39) V329A probably damaging Het
Crisp3 A C 17: 40,546,804 (GRCm39) V38G probably damaging Het
Cyp2b23 A G 7: 26,380,821 (GRCm39) F135L probably benign Het
Cyrib A T 15: 63,828,447 (GRCm39) probably null Het
Ddr2 A T 1: 169,816,089 (GRCm39) C539* probably null Het
Efna5 T A 17: 62,914,458 (GRCm39) D189V probably damaging Het
Endov G T 11: 119,390,675 (GRCm39) V70F probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Frem3 A T 8: 81,340,026 (GRCm39) H773L probably benign Het
Gm43302 T A 5: 105,365,352 (GRCm39) Q552L possibly damaging Het
Gramd1a A T 7: 30,833,908 (GRCm39) W506R probably damaging Het
Hmcn1 C T 1: 150,570,600 (GRCm39) V2188I possibly damaging Het
Ifit1bl2 A G 19: 34,597,458 (GRCm39) F53L probably benign Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Kif5a GGGTTGGT GGGT 10: 127,066,898 (GRCm39) probably null Het
Krt16 A G 11: 100,139,272 (GRCm39) Y149H probably damaging Het
Krtap5-2 A T 7: 141,728,742 (GRCm39) C313S unknown Het
Mreg A G 1: 72,201,527 (GRCm39) I155T probably damaging Het
Nox4 T C 7: 86,954,181 (GRCm39) probably benign Het
Or3a1d C A 11: 74,237,954 (GRCm39) W32L possibly damaging Het
Or52ad1 A T 7: 102,995,826 (GRCm39) M103K possibly damaging Het
Or56a3 C A 7: 104,740,309 (GRCm39) C179F probably damaging Het
Or5k15 A T 16: 58,709,976 (GRCm39) Y202* probably null Het
Pgap6 CGGGG CGGGGG 17: 26,339,536 (GRCm39) probably null Het
Pkd1 A G 17: 24,784,497 (GRCm39) T348A probably benign Het
Poteg T C 8: 27,940,020 (GRCm39) probably null Het
Prom1 T G 5: 44,172,236 (GRCm39) N585T probably benign Het
Rfc1 T C 5: 65,434,769 (GRCm39) S666G probably null Het
Rilp A G 11: 75,403,687 (GRCm39) probably benign Het
Serpina3i A G 12: 104,231,759 (GRCm39) E132G probably benign Het
Serpina3m T C 12: 104,360,170 (GRCm39) V414A probably damaging Het
Sfrp4 T C 13: 19,807,868 (GRCm39) F89S probably damaging Het
Stat5a A G 11: 100,772,900 (GRCm39) H692R probably benign Het
Tex29 A T 8: 11,904,279 (GRCm39) probably benign Het
Tmc5 T A 7: 118,271,416 (GRCm39) F910I probably damaging Het
Tusc3 G A 8: 39,538,651 (GRCm39) G230D possibly damaging Het
Ubqln3 G A 7: 103,790,674 (GRCm39) P472L probably benign Het
Upb1 A T 10: 75,264,105 (GRCm39) I184F probably damaging Het
Vamp4 T C 1: 162,401,932 (GRCm39) F5L possibly damaging Het
Zfp583 C A 7: 6,326,674 (GRCm39) Q68H probably damaging Het
Zfp831 A C 2: 174,487,200 (GRCm39) H625P probably benign Het
Zfp941 G A 7: 140,392,763 (GRCm39) probably benign 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
R3799:Nans UTSW 4 46,492,839 (GRCm39) missense probably benign 0.05
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
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'- AGTGTTCCCTGGACAGATGG -3'
(R):5'- AAGCAGGTTTCTAAGATGGGTC -3'

Sequencing Primer
(F):5'- CCCTGGACAGATGGGTGTG -3'
(R):5'- ATCTCTAGGAGTTTGAGGCCAACC -3'
Posted On 2017-01-03