Incidental Mutation 'IGL01451:Gne'
ID84637
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gne
Ensembl Gene ENSMUSG00000028479
Gene Nameglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01451
Quality Score
Status
Chromosome4
Chromosomal Location44034075-44084177 bp(-) (GRCm38)
Type of Mutationintron (303 bp from exon)
DNA Base Change (assembly) T to C at 44041860 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030201] [ENSMUST00000102936] [ENSMUST00000133709] [ENSMUST00000172533] [ENSMUST00000173234]
Predicted Effect probably damaging
Transcript: ENSMUST00000030201
AA Change: N510S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030201
Gene: ENSMUSG00000028479
AA Change: N510S

DomainStartEndE-ValueType
Pfam:Epimerase_2 63 406 2.3e-69 PFAM
Pfam:ROK 440 747 1.4e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102936
AA Change: N479S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100000
Gene: ENSMUSG00000028479
AA Change: N479S

DomainStartEndE-ValueType
Pfam:Epimerase_2 32 375 5.1e-75 PFAM
Pfam:ROK 411 596 6.5e-44 PFAM
low complexity region 685 707 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133709
Predicted Effect probably benign
Transcript: ENSMUST00000172533
SMART Domains Protein: ENSMUSP00000134040
Gene: ENSMUSG00000028479

DomainStartEndE-ValueType
Pfam:Epimerase_2 32 375 1.6e-75 PFAM
PDB:3EO3|C 406 471 2e-33 PDB
SCOP:d1bu6o1 410 462 1e-3 SMART
Predicted Effect probably null
Transcript: ENSMUST00000173234
SMART Domains Protein: ENSMUSP00000133521
Gene: ENSMUSG00000028479

DomainStartEndE-ValueType
Pfam:Epimerase_2 32 375 3.9e-75 PFAM
Pfam:ROK 453 522 1.6e-16 PFAM
low complexity region 611 633 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174522
Coding Region Coverage
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 bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene causes a block in sialic acid biosynthesis and early embryonic lethality. A knockout mouse expressing the human V572L mutation shows features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik A G 3: 124,579,878 S23P possibly damaging Het
Adam1a T C 5: 121,519,376 Y618C probably benign Het
Amigo2 A C 15: 97,245,226 S438R probably benign Het
Atp5k T C 5: 108,434,056 I21V probably benign Het
Dnah2 T C 11: 69,474,191 probably benign Het
Dock2 A G 11: 34,310,390 Y984H probably damaging Het
Dpysl2 T A 14: 66,807,918 I469F possibly damaging Het
Edem3 C T 1: 151,818,628 T886I probably benign Het
Gart T C 16: 91,625,512 T706A probably benign Het
Gfpt2 A T 11: 49,807,690 probably benign Het
Gm11541 T G 11: 94,695,669 D84A unknown Het
Gria4 A T 9: 4,503,652 D321E probably benign Het
Ift122 T G 6: 115,912,604 probably null Het
Lcp2 A T 11: 34,047,345 probably benign Het
Mcm2 C T 6: 88,891,966 probably benign Het
Olfr921 A G 9: 38,775,929 I225V probably benign Het
Ptpru C A 4: 131,769,492 probably benign Het
Rpap2 T C 5: 107,603,626 probably null Het
Slc25a39 T C 11: 102,404,900 T138A probably damaging Het
St6galnac1 A C 11: 116,769,339 S49R probably benign Het
Stat1 T C 1: 52,139,343 L312P probably damaging Het
Tmem198 T C 1: 75,484,370 probably benign Het
Top2a A T 11: 99,011,030 L458Q probably damaging Het
Treml4 T C 17: 48,264,995 probably benign Het
Trpm6 A G 19: 18,809,569 D503G probably damaging Het
Ttn C A 2: 76,945,273 E1854D unknown Het
Ubqln3 A T 7: 104,142,196 M229K possibly damaging Het
Zfyve9 T C 4: 108,682,260 T939A probably damaging Het
Other mutations in Gne
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02028:Gne APN 4 44066852 missense probably damaging 1.00
IGL02106:Gne APN 4 44037306 missense probably damaging 1.00
IGL02216:Gne APN 4 44044761 missense probably benign 0.43
IGL03095:Gne APN 4 44055211 missense probably damaging 1.00
R0069:Gne UTSW 4 44060099 missense probably damaging 1.00
R0069:Gne UTSW 4 44060099 missense probably damaging 1.00
R0310:Gne UTSW 4 44060157 nonsense probably null
R0606:Gne UTSW 4 44042244 missense possibly damaging 0.55
R0658:Gne UTSW 4 44039033 missense possibly damaging 0.85
R1878:Gne UTSW 4 44040434 missense probably damaging 1.00
R2009:Gne UTSW 4 44055273 missense probably benign 0.00
R2338:Gne UTSW 4 44042196 missense probably damaging 0.99
R4043:Gne UTSW 4 44040383 missense possibly damaging 0.65
R4361:Gne UTSW 4 44059947 missense possibly damaging 0.63
R4725:Gne UTSW 4 44066806 missense probably benign 0.31
R4869:Gne UTSW 4 44055204 critical splice donor site probably null
R5511:Gne UTSW 4 44041843 missense probably damaging 0.99
R5797:Gne UTSW 4 44060030 missense probably damaging 1.00
R6016:Gne UTSW 4 44039063 missense probably damaging 0.99
R6176:Gne UTSW 4 44053019 intron probably benign
R6461:Gne UTSW 4 44060078 missense probably damaging 1.00
R6804:Gne UTSW 4 44060210 missense probably damaging 1.00
Posted On2013-11-11