Incidental Mutation 'IGL02106:Gne'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gne
Ensembl Gene ENSMUSG00000028479
Gene Nameglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02106
Quality Score
Chromosomal Location44034075-44084177 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 44037306 bp
Amino Acid Change Asparagine to Aspartic acid at position 692 (N692D)
Ref Sequence ENSEMBL: ENSMUSP00000030201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030201] [ENSMUST00000102936] [ENSMUST00000107845] [ENSMUST00000107846] [ENSMUST00000107847] [ENSMUST00000107849] [ENSMUST00000107851] [ENSMUST00000170241] [ENSMUST00000172533] [ENSMUST00000173234]
Predicted Effect probably damaging
Transcript: ENSMUST00000030201
AA Change: N692D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030201
Gene: ENSMUSG00000028479
AA Change: N692D

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: N661D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100000
Gene: ENSMUSG00000028479
AA Change: N661D

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: ENSMUST00000107845
SMART Domains Protein: ENSMUSP00000103477
Gene: ENSMUSG00000028478

Pfam:Clathrin_lg_ch 3 215 1.4e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107846
SMART Domains Protein: ENSMUSP00000103478
Gene: ENSMUSG00000028478

Pfam:Clathrin_lg_ch 3 217 1.1e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107847
SMART Domains Protein: ENSMUSP00000103479
Gene: ENSMUSG00000028478

Pfam:Clathrin_lg_ch 3 229 2e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107849
SMART Domains Protein: ENSMUSP00000103481
Gene: ENSMUSG00000028478

Pfam:Clathrin_lg_ch 3 235 3.5e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107851
SMART Domains Protein: ENSMUSP00000103483
Gene: ENSMUSG00000028478

Pfam:Clathrin_lg_ch 15 247 4.1e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170241
SMART Domains Protein: ENSMUSP00000127344
Gene: ENSMUSG00000028478

Pfam:Clathrin_lg_ch 3 217 1.1e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172533
SMART Domains Protein: ENSMUSP00000134040
Gene: ENSMUSG00000028479

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 possibly damaging
Transcript: ENSMUST00000173234
AA Change: N587D

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133521
Gene: ENSMUSG00000028479
AA Change: N587D

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl9l A G 9: 44,509,199 N1264D probably benign Het
Bmyc A G 2: 25,707,070 K49E probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Ceacam2 A G 7: 25,530,741 S147P probably benign Het
Cep152 G T 2: 125,602,936 probably null Het
Cnbd1 G T 4: 18,894,993 P250T possibly damaging Het
Col6a4 A G 9: 106,063,105 C1209R possibly damaging Het
Coro1c T C 5: 113,852,273 T116A probably benign Het
Ddx46 A G 13: 55,677,603 probably benign Het
Dnaaf5 T C 5: 139,151,513 I207T probably damaging Het
Erap1 A G 13: 74,646,639 D139G probably benign Het
Fbxw22 A T 9: 109,402,019 I121N possibly damaging Het
Fcmr T C 1: 130,875,135 S162P probably benign Het
Gadl1 A G 9: 115,937,157 probably benign Het
Gli2 T A 1: 118,836,735 S1229C probably benign Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Knl1 A G 2: 119,072,008 T1397A possibly damaging Het
Lama3 C A 18: 12,468,314 A1016E probably damaging Het
Lhfpl2 A G 13: 94,191,911 D160G probably benign Het
Lmtk2 T A 5: 144,175,951 V1163E probably benign Het
Lrrtm2 G T 18: 35,212,815 S478* probably null Het
Nfatc2ip T C 7: 126,390,564 probably null Het
Nlrp12 A G 7: 3,233,944 I775T probably benign Het
Npr1 A G 3: 90,464,858 F216L probably benign Het
Olfr1451 G T 19: 12,999,565 S193I possibly damaging Het
Olfr206 T A 16: 59,345,024 N226Y probably benign Het
Olfr734 A T 14: 50,320,160 L225H probably damaging Het
Pkd1l1 C A 11: 8,833,800 G2052C probably damaging Het
Ppp1r16b A G 2: 158,746,531 N112S possibly damaging Het
Prr11 A G 11: 87,103,315 probably benign Het
Scap A G 9: 110,381,656 probably benign Het
Sirt1 C T 10: 63,335,829 R191Q probably damaging Het
Slc38a6 A C 12: 73,350,546 S321R possibly damaging Het
Sp140 T C 1: 85,643,219 V460A probably benign Het
Spdye4c A T 2: 128,592,666 K54N possibly damaging Het
Spta1 T A 1: 174,203,294 N947K probably benign Het
Srgap1 A G 10: 121,785,693 V965A possibly damaging Het
Tmem209 A C 6: 30,508,660 probably null Het
Trim37 A T 11: 87,201,404 K123* probably null Het
Trio T C 15: 27,744,158 T2563A possibly damaging Het
Utrn A T 10: 12,413,973 S734T possibly damaging Het
Vars2 A G 17: 35,664,621 probably benign Het
Xrn1 G A 9: 95,977,805 E417K probably benign Het
Yeats2 T A 16: 20,193,220 V515E possibly damaging Het
Other mutations in Gne
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01451:Gne APN 4 44041860 splice site probably null
IGL02028:Gne APN 4 44066852 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
R7170:Gne UTSW 4 44040361 missense possibly damaging 0.95
R7191:Gne UTSW 4 44040266 missense probably benign 0.16
R7264:Gne UTSW 4 44042175 missense probably damaging 0.96
R7413:Gne UTSW 4 44044857 missense probably benign 0.06
R7956:Gne UTSW 4 44044962 missense probably benign 0.32
R8184:Gne UTSW 4 44084061 missense probably benign 0.07
R8734:Gne UTSW 4 44072911 unclassified probably benign
RF012:Gne UTSW 4 44060045 missense probably damaging 1.00
RF014:Gne UTSW 4 44060045 missense probably damaging 1.00
Posted On2015-04-16