Incidental Mutation 'IGL02028:Gne'
ID 184253
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gne
Ensembl Gene ENSMUSG00000028479
Gene Name glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Synonyms 2310066H07Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02028
Quality Score
Status
Chromosome 4
Chromosomal Location 44034075-44084177 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44066852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 23 (S23P)
Ref Sequence ENSEMBL: ENSMUSP00000134040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030201] [ENSMUST00000102936] [ENSMUST00000128439] [ENSMUST00000133709] [ENSMUST00000140724] [ENSMUST00000144985] [ENSMUST00000172533] [ENSMUST00000173383] [ENSMUST00000173274] [ENSMUST00000173234]
AlphaFold Q91WG8
Predicted Effect probably damaging
Transcript: ENSMUST00000030201
AA Change: S54P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030201
Gene: ENSMUSG00000028479
AA Change: S54P

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: S23P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100000
Gene: ENSMUSG00000028479
AA Change: S23P

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 damaging
Transcript: ENSMUST00000128439
AA Change: S48P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000133709
AA Change: S23P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000140724
AA Change: S48P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000144985
AA Change: S62P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118443
Gene: ENSMUSG00000028479
AA Change: S62P

DomainStartEndE-ValueType
Pfam:Epimerase_2 71 213 1.3e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000172533
AA Change: S23P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134040
Gene: ENSMUSG00000028479
AA Change: S23P

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: ENSMUST00000173383
AA Change: S23P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133440
Gene: ENSMUSG00000028479
AA Change: S23P

DomainStartEndE-ValueType
Pfam:Epimerase_2 32 133 3.9e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000173274
AA Change: S23P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134406
Gene: ENSMUSG00000028479
AA Change: S23P

DomainStartEndE-ValueType
Pfam:Epimerase_2 32 292 2.5e-54 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000173234
AA Change: S23P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133521
Gene: ENSMUSG00000028479
AA Change: S23P

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 noncoding transcript
Transcript: ENSMUST00000173569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173976
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 A G 1: 60,473,442 (GRCm39) Y53C probably damaging Het
Acacb T A 5: 114,304,076 (GRCm39) D166E probably damaging Het
Akap8l T C 17: 32,557,495 (GRCm39) probably null Het
Arl6ip5 A G 6: 97,206,611 (GRCm39) Y97C probably damaging Het
Atad5 T A 11: 80,024,936 (GRCm39) S1772R probably benign Het
Ccdc106 A G 7: 5,062,645 (GRCm39) Q155R probably damaging Het
Ccdc33 T C 9: 57,983,861 (GRCm39) N446S probably benign Het
Cdh2 T C 18: 16,783,477 (GRCm39) D84G probably benign Het
Cntn6 A G 6: 104,836,387 (GRCm39) K918E probably damaging Het
Dock6 T C 9: 21,750,122 (GRCm39) D521G probably damaging Het
Dync2i1 C A 12: 116,219,681 (GRCm39) R87L probably benign Het
Etv6 C T 6: 134,225,696 (GRCm39) A309V probably benign Het
Ezh1 G T 11: 101,090,166 (GRCm39) H529Q probably damaging Het
Figla T C 6: 85,994,345 (GRCm39) L40P probably damaging Het
Gabra4 T A 5: 71,790,939 (GRCm39) Q301L probably damaging Het
Glt1d1 G A 5: 127,783,984 (GRCm39) V313M possibly damaging Het
Gm28778 T A 1: 53,357,120 (GRCm39) I94K possibly damaging Het
Gm4847 T C 1: 166,469,765 (GRCm39) K103E probably benign Het
Hipk2 A G 6: 38,795,691 (GRCm39) C186R possibly damaging Het
Lrp1b C T 2: 41,401,464 (GRCm39) V283I probably damaging Het
Mcm10 A T 2: 5,013,511 (GRCm39) D40E possibly damaging Het
Morc2b T A 17: 33,356,387 (GRCm39) I462F possibly damaging Het
Myh1 T A 11: 67,101,441 (GRCm39) I711N probably damaging Het
Oit3 A G 10: 59,274,477 (GRCm39) F108L probably damaging Het
Or4f4b T C 2: 111,313,816 (GRCm39) F14L probably benign Het
Or8b49 T A 9: 38,505,715 (GRCm39) L66* probably null Het
Polr1g T C 7: 19,091,003 (GRCm39) K368R probably damaging Het
Rbm19 A G 5: 120,258,301 (GRCm39) D172G probably damaging Het
Ribc2 A G 15: 85,027,536 (GRCm39) D339G possibly damaging Het
Rras2 C A 7: 113,659,597 (GRCm39) V56L probably benign Het
Scn2a A G 2: 65,594,002 (GRCm39) E1617G probably damaging Het
Slc13a1 T A 6: 24,118,030 (GRCm39) M236L probably benign Het
Snrnp27 C T 6: 86,659,955 (GRCm39) R13H unknown Het
Srgap2 T C 1: 131,224,173 (GRCm39) K92E probably damaging Het
Suco T C 1: 161,684,428 (GRCm39) K231E possibly damaging Het
Tll2 C A 19: 41,087,088 (GRCm39) E588* probably null Het
Tmem215 A T 4: 40,473,940 (GRCm39) I6L possibly damaging Het
Tnc A C 4: 63,884,909 (GRCm39) probably benign Het
Tob1 G A 11: 94,105,052 (GRCm39) G196D probably benign Het
Ubtfl1 T A 9: 18,320,849 (GRCm39) Y126N possibly damaging Het
Uck1 G T 2: 32,148,149 (GRCm39) Q192K probably damaging Het
Vdac3-ps1 A G 13: 18,205,469 (GRCm39) noncoding transcript Het
Vmn1r88 C T 7: 12,911,719 (GRCm39) S25L probably benign Het
Vmn2r109 T G 17: 20,761,342 (GRCm39) I672L probably benign Het
Vmn2r23 T C 6: 123,718,819 (GRCm39) F724S probably damaging Het
Vmn2r54 A T 7: 12,366,088 (GRCm39) F282Y probably damaging Het
Vmn2r82 A T 10: 79,215,057 (GRCm39) I347F probably benign Het
Wasf2 G A 4: 132,923,112 (GRCm39) R474H probably damaging Het
Zmym5 T C 14: 57,041,617 (GRCm39) H162R possibly damaging Het
Other mutations in Gne
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01451:Gne APN 4 44,041,860 (GRCm39) splice site probably null
IGL02106:Gne APN 4 44,037,306 (GRCm39) missense probably damaging 1.00
IGL02216:Gne APN 4 44,044,761 (GRCm39) missense probably benign 0.43
IGL03095:Gne APN 4 44,055,211 (GRCm39) missense probably damaging 1.00
R0069:Gne UTSW 4 44,060,099 (GRCm39) missense probably damaging 1.00
R0069:Gne UTSW 4 44,060,099 (GRCm39) missense probably damaging 1.00
R0310:Gne UTSW 4 44,060,157 (GRCm39) nonsense probably null
R0606:Gne UTSW 4 44,042,244 (GRCm39) missense possibly damaging 0.55
R0658:Gne UTSW 4 44,039,033 (GRCm39) missense possibly damaging 0.85
R1878:Gne UTSW 4 44,040,434 (GRCm39) missense probably damaging 1.00
R2009:Gne UTSW 4 44,055,273 (GRCm39) missense probably benign 0.00
R2338:Gne UTSW 4 44,042,196 (GRCm39) missense probably damaging 0.99
R4043:Gne UTSW 4 44,040,383 (GRCm39) missense possibly damaging 0.65
R4361:Gne UTSW 4 44,059,947 (GRCm39) missense possibly damaging 0.63
R4725:Gne UTSW 4 44,066,806 (GRCm39) missense probably benign 0.31
R4869:Gne UTSW 4 44,055,204 (GRCm39) critical splice donor site probably null
R5511:Gne UTSW 4 44,041,843 (GRCm39) missense probably damaging 0.99
R5797:Gne UTSW 4 44,060,030 (GRCm39) missense probably damaging 1.00
R6016:Gne UTSW 4 44,039,063 (GRCm39) missense probably damaging 0.99
R6176:Gne UTSW 4 44,053,019 (GRCm39) intron probably benign
R6461:Gne UTSW 4 44,060,078 (GRCm39) missense probably damaging 1.00
R6804:Gne UTSW 4 44,060,210 (GRCm39) missense probably damaging 1.00
R7170:Gne UTSW 4 44,040,361 (GRCm39) missense possibly damaging 0.95
R7191:Gne UTSW 4 44,040,266 (GRCm39) missense probably benign 0.16
R7264:Gne UTSW 4 44,042,175 (GRCm39) missense probably damaging 0.96
R7413:Gne UTSW 4 44,044,857 (GRCm39) missense probably benign 0.06
R7956:Gne UTSW 4 44,044,962 (GRCm39) missense probably benign 0.32
R8184:Gne UTSW 4 44,084,061 (GRCm39) missense probably benign 0.07
R8734:Gne UTSW 4 44,072,911 (GRCm39) unclassified probably benign
R8981:Gne UTSW 4 44,042,261 (GRCm39) missense probably benign 0.43
R9331:Gne UTSW 4 44,066,845 (GRCm39) missense probably damaging 1.00
R9380:Gne UTSW 4 44,066,807 (GRCm39) missense probably benign
RF012:Gne UTSW 4 44,060,045 (GRCm39) missense probably damaging 1.00
RF014:Gne UTSW 4 44,060,045 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07