Incidental Mutation 'IGL03095:Gne'
ID418517
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 #IGL03095
Quality Score
Status
Chromosome4
Chromosomal Location44034075-44084177 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 44055211 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 255 (D255Y)
Ref Sequence ENSEMBL: ENSMUSP00000134040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030201] [ENSMUST00000102936] [ENSMUST00000128439] [ENSMUST00000133709] [ENSMUST00000140724] [ENSMUST00000144985] [ENSMUST00000172533] [ENSMUST00000173234] [ENSMUST00000173274] [ENSMUST00000173383]
Predicted Effect probably damaging
Transcript: ENSMUST00000030201
AA Change: D286Y

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030201
Gene: ENSMUSG00000028479
AA Change: D286Y

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: D255Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100000
Gene: ENSMUSG00000028479
AA Change: D255Y

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: ENSMUST00000128439
Predicted Effect probably benign
Transcript: ENSMUST00000133709
Predicted Effect probably benign
Transcript: ENSMUST00000140724
Predicted Effect probably benign
Transcript: ENSMUST00000144985
SMART Domains Protein: ENSMUSP00000118443
Gene: ENSMUSG00000028479

DomainStartEndE-ValueType
Pfam:Epimerase_2 71 213 1.3e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172514
Predicted Effect probably damaging
Transcript: ENSMUST00000172533
AA Change: D255Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134040
Gene: ENSMUSG00000028479
AA Change: D255Y

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 damaging
Transcript: ENSMUST00000173234
AA Change: D255Y

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133521
Gene: ENSMUSG00000028479
AA Change: D255Y

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 damaging
Transcript: ENSMUST00000173274
AA Change: D255Y

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134406
Gene: ENSMUSG00000028479
AA Change: D255Y

DomainStartEndE-ValueType
Pfam:Epimerase_2 32 292 2.5e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173383
SMART Domains Protein: ENSMUSP00000133440
Gene: ENSMUSG00000028479

DomainStartEndE-ValueType
Pfam:Epimerase_2 32 133 3.9e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173976
Predicted Effect unknown
Transcript: ENSMUST00000174522
AA Change: D29Y
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bche A G 3: 73,701,883 L70P probably damaging Het
Cacna1h C A 17: 25,383,778 probably benign Het
Ccdc60 A T 5: 116,146,215 probably benign Het
Cep152 T C 2: 125,618,451 N194D probably benign Het
Chodl T A 16: 78,941,433 D96E probably damaging Het
Clca3b C A 3: 144,846,910 G122* probably null Het
Crybg1 T C 10: 43,989,249 I1411V probably damaging Het
Dock9 A C 14: 121,639,528 V477G probably damaging Het
Fam149a T A 8: 45,341,228 E632D probably damaging Het
Gabra4 A G 5: 71,624,015 V351A probably damaging Het
Gen1 T A 12: 11,248,264 I319L probably benign Het
Gpr146 A G 5: 139,392,950 H169R probably benign Het
Htatip2 A G 7: 49,759,774 E92G probably benign Het
Ipcef1 A G 10: 6,919,732 S223P probably damaging Het
Kcnmb2 T A 3: 32,198,127 *37R probably null Het
Lin54 A T 5: 100,454,478 V400E probably damaging Het
Ltbp1 C A 17: 75,282,418 Q511K possibly damaging Het
Lyg1 A G 1: 37,950,768 probably benign Het
Nampt T A 12: 32,842,686 V324D possibly damaging Het
Nat8b-ps T G 6: 85,932,968 probably benign Het
Neb G A 2: 52,169,088 H213Y probably damaging Het
Nfkb1 T C 3: 135,618,830 E179G possibly damaging Het
Nlrc5 T A 8: 94,521,908 probably benign Het
Olfr102 T A 17: 37,313,773 I204F probably benign Het
Olfr1085 A T 2: 86,658,431 L9Q possibly damaging Het
Pcdh15 G A 10: 74,355,874 V601M probably damaging Het
Pigc G A 1: 161,970,776 R109Q possibly damaging Het
Plxna2 A G 1: 194,801,127 N1582S probably damaging Het
Pros1 C T 16: 62,907,769 Q279* probably null Het
Psmb5 A G 14: 54,616,557 S155P probably damaging Het
Rock2 T A 12: 16,953,340 D393E probably benign Het
Slc25a21 T C 12: 56,738,625 T156A probably benign Het
Slc44a1 T A 4: 53,536,374 Y183* probably null Het
Sytl2 C T 7: 90,392,434 P580L probably damaging Het
Tktl2 G T 8: 66,512,284 V165F probably damaging Het
Trim55 A G 3: 19,674,465 E480G probably benign Het
Vmn2r92 T A 17: 18,166,710 S104T possibly damaging Het
Vps51 C T 19: 6,070,048 R490H probably damaging Het
Wdr43 G A 17: 71,641,287 V391I probably benign Het
Zranb1 T G 7: 132,949,906 Y121* probably null Het
Other mutations in Gne
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01451:Gne APN 4 44041860 intron probably null
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
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 On2016-08-02