Incidental Mutation 'R7170:Gne'
ID 558175
Institutional Source Beutler Lab
Gene Symbol Gne
Ensembl Gene ENSMUSG00000028479
Gene Name glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Synonyms 2310066H07Rik
MMRRC Submission 045332-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7170 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 44034075-44084177 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44040361 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 601 (L601P)
Ref Sequence ENSEMBL: ENSMUSP00000030201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030201] [ENSMUST00000102936] [ENSMUST00000172533] [ENSMUST00000173234]
AlphaFold Q91WG8
Predicted Effect possibly damaging
Transcript: ENSMUST00000030201
AA Change: L601P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030201
Gene: ENSMUSG00000028479
AA Change: L601P

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: L570P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000100000
Gene: ENSMUSG00000028479
AA Change: L570P

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: 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 damaging
Transcript: ENSMUST00000173234
AA Change: L496P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000133521
Gene: ENSMUSG00000028479
AA Change: L496P

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (81/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,836,654 (GRCm39) T1214A probably benign Het
Acte1 T C 7: 143,450,102 (GRCm39) S285P probably damaging Het
Adgrf5 G A 17: 43,757,029 (GRCm39) V708M possibly damaging Het
Akap9 C G 5: 4,018,745 (GRCm39) H1109D probably benign Het
Ankrd7 T A 6: 18,868,389 (GRCm39) Y170* probably null Het
Aplp2 T C 9: 31,081,739 (GRCm39) D236G probably benign Het
Apoa5 T C 9: 46,181,437 (GRCm39) M171T probably benign Het
Bcas3 T C 11: 85,386,744 (GRCm39) V393A probably damaging Het
Ccdc47 T C 11: 106,093,304 (GRCm39) N370S probably benign Het
Cfap77 A T 2: 28,875,854 (GRCm39) Y85* probably null Het
Col4a3 G A 1: 82,693,630 (GRCm39) probably null Het
Crnn T A 3: 93,056,020 (GRCm39) S269T possibly damaging Het
Crocc2 G A 1: 93,121,704 (GRCm39) A618T possibly damaging Het
D030056L22Rik A G 19: 18,690,737 (GRCm39) K17R possibly damaging Het
Emx1 G A 6: 85,164,983 (GRCm39) G20D probably benign Het
Fabp3 A G 4: 130,207,763 (GRCm39) D88G probably benign Het
Fam124a A C 14: 62,824,629 (GRCm39) D41A probably damaging Het
Fanca T C 8: 123,997,945 (GRCm39) E1247G probably damaging Het
Fat3 T C 9: 15,917,870 (GRCm39) R1518G probably damaging Het
Fgf12 T C 16: 28,263,931 (GRCm39) I5V probably benign Het
Fscn2 C A 11: 120,253,335 (GRCm39) N267K probably damaging Het
Ftdc1 G T 16: 58,436,091 (GRCm39) C77* probably null Het
Fubp3 A G 2: 31,488,632 (GRCm39) T163A probably benign Het
Gask1a G T 9: 121,807,301 (GRCm39) A482S probably damaging Het
Gphn T C 12: 78,730,663 (GRCm39) V766A possibly damaging Het
Hsf1 G T 15: 76,384,221 (GRCm39) G402C probably damaging Het
Ift81 A T 5: 122,693,596 (GRCm39) Y604* probably null Het
Iqgap3 T A 3: 88,009,370 (GRCm39) I768N probably damaging Het
Kazald1 A T 19: 45,066,855 (GRCm39) D218V probably benign Het
Kmt2a T C 9: 44,722,018 (GRCm39) N3776D unknown Het
Ktn1 T C 14: 47,943,867 (GRCm39) L872S probably damaging Het
Lama3 T G 18: 12,537,133 (GRCm39) F259L probably benign Het
Mfsd6 A G 1: 52,701,547 (GRCm39) probably null Het
Mical3 A T 6: 120,950,694 (GRCm39) probably null Het
Mob3b A G 4: 35,083,839 (GRCm39) Y117H probably damaging Het
Mrpl2 G A 17: 46,959,181 (GRCm39) G95D probably damaging Het
Mstn A T 1: 53,105,554 (GRCm39) I299F probably damaging Het
Mta3 C T 17: 84,022,091 (GRCm39) R49W probably damaging Het
Mylk3 A G 8: 86,077,114 (GRCm39) F574L probably damaging Het
Naca T A 10: 127,875,990 (GRCm39) S341T unknown Het
Ncoa1 T C 12: 4,299,722 (GRCm39) D1401G probably benign Het
Nedd4 T A 9: 72,577,381 (GRCm39) Y69N probably benign Het
Nin T C 12: 70,091,013 (GRCm39) T801A Het
Nsd1 T A 13: 55,409,439 (GRCm39) L1336* probably null Het
Nudt16l2 C A 9: 105,020,600 (GRCm39) probably null Het
Oprk1 G A 1: 5,672,619 (GRCm39) R252H probably damaging Het
Or4c10b A T 2: 89,711,397 (GRCm39) T76S possibly damaging Het
Or4c10b A G 2: 89,711,185 (GRCm39) N5S probably benign Het
Or5w15 C T 2: 87,568,056 (GRCm39) G204D probably damaging Het
Pcdhga11 T C 18: 37,889,717 (GRCm39) F242L probably damaging Het
Pof1b A G X: 111,554,042 (GRCm39) I544T probably benign Het
Pold1 T C 7: 44,191,572 (GRCm39) H138R possibly damaging Het
Ptprd A T 4: 75,990,199 (GRCm39) D504E probably benign Het
Rabgap1l A G 1: 160,472,935 (GRCm39) V501A probably damaging Het
Rimklb T C 6: 122,429,697 (GRCm39) N233S probably benign Het
Rnf213 A G 11: 119,343,401 (GRCm39) I3589V Het
Rora T A 9: 69,280,472 (GRCm39) C348* probably null Het
Sdhaf3 T C 6: 6,956,043 (GRCm39) V6A probably benign Het
Serpina3m T A 12: 104,355,777 (GRCm39) L148Q probably damaging Het
Sik1 T C 17: 32,067,746 (GRCm39) D443G possibly damaging Het
Sim2 A G 16: 93,923,559 (GRCm39) T366A probably benign Het
Slc32a1 T C 2: 158,453,243 (GRCm39) F28L probably damaging Het
Sorbs1 A T 19: 40,314,573 (GRCm39) Y746* probably null Het
Speer4b T A 5: 27,703,821 (GRCm39) N106I possibly damaging Het
Sphkap A G 1: 83,243,706 (GRCm39) S1269P probably damaging Het
Tcf4 T C 18: 69,766,649 (GRCm39) V205A probably damaging Het
Thsd7a C T 6: 12,352,090 (GRCm39) R1035H Het
Tmprss11c A T 5: 86,385,478 (GRCm39) probably null Het
Trim50 A G 5: 135,396,365 (GRCm39) T438A probably benign Het
Ttc21a C T 9: 119,774,607 (GRCm39) P287L probably damaging Het
Ttc41 C T 10: 86,549,367 (GRCm39) S187L probably benign Het
Ttll3 C T 6: 113,390,839 (GRCm39) P807L probably benign Het
Ttn A C 2: 76,597,696 (GRCm39) V19739G probably benign Het
Usp15 C A 10: 123,007,100 (GRCm39) C127F probably damaging Het
Vmn2r100 G T 17: 19,752,233 (GRCm39) A822S probably benign Het
Zan A T 5: 137,461,756 (GRCm39) V1141D unknown Het
Zfp457 A T 13: 67,442,241 (GRCm39) C111* probably null Het
Zfp758 C T 17: 22,594,116 (GRCm39) Q201* probably null Het
Zkscan2 T C 7: 123,099,030 (GRCm39) E54G possibly damaging Het
Other mutations in Gne
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01451:Gne APN 4 44,041,860 (GRCm39) splice site probably null
IGL02028:Gne APN 4 44,066,852 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AACCATGGCTTCTATGTCAGC -3'
(R):5'- TACAGGTTCAGTGCGCAGTG -3'

Sequencing Primer
(F):5'- ATGTCAGCTCTCCGAAATTTCTAC -3'
(R):5'- AGTGAGCCTCAGCCATCTAGAG -3'
Posted On 2019-06-26