Incidental Mutation 'R0310:Gne'
ID 25114
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 038520-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0310 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 44034075-44084177 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 44060157 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 79 (E79*)
Ref Sequence ENSEMBL: ENSMUSP00000133440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030201] [ENSMUST00000102936] [ENSMUST00000128439] [ENSMUST00000133709] [ENSMUST00000140724] [ENSMUST00000144985] [ENSMUST00000173383] [ENSMUST00000173274] [ENSMUST00000173234] [ENSMUST00000172533]
AlphaFold Q91WG8
Predicted Effect probably null
Transcript: ENSMUST00000030201
AA Change: E110*
SMART Domains Protein: ENSMUSP00000030201
Gene: ENSMUSG00000028479
AA Change: E110*

DomainStartEndE-ValueType
Pfam:Epimerase_2 63 406 2.3e-69 PFAM
Pfam:ROK 440 747 1.4e-57 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000102936
AA Change: E79*
SMART Domains Protein: ENSMUSP00000100000
Gene: ENSMUSG00000028479
AA Change: E79*

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 null
Transcript: ENSMUST00000128439
AA Change: E104*
Predicted Effect probably benign
Transcript: ENSMUST00000133709
Predicted Effect probably null
Transcript: ENSMUST00000140724
AA Change: E104*
Predicted Effect probably null
Transcript: ENSMUST00000144985
AA Change: E118*
SMART Domains Protein: ENSMUSP00000118443
Gene: ENSMUSG00000028479
AA Change: E118*

DomainStartEndE-ValueType
Pfam:Epimerase_2 71 213 1.3e-37 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000173383
AA Change: E79*
SMART Domains Protein: ENSMUSP00000133440
Gene: ENSMUSG00000028479
AA Change: E79*

DomainStartEndE-ValueType
Pfam:Epimerase_2 32 133 3.9e-22 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000173274
AA Change: E79*
SMART Domains Protein: ENSMUSP00000134406
Gene: ENSMUSG00000028479
AA Change: E79*

DomainStartEndE-ValueType
Pfam:Epimerase_2 32 292 2.5e-54 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000173234
AA Change: E79*
SMART Domains Protein: ENSMUSP00000133521
Gene: ENSMUSG00000028479
AA Change: E79*

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 null
Transcript: ENSMUST00000172533
AA Change: E79*
SMART Domains Protein: ENSMUSP00000134040
Gene: ENSMUSG00000028479
AA Change: E79*

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 noncoding transcript
Transcript: ENSMUST00000172514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173976
Predicted Effect probably benign
Transcript: ENSMUST00000174522
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.3%
  • 10x: 93.3%
  • 20x: 82.5%
Validation Efficiency 99% (113/114)
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: 109 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A C 9: 53,336,971 (GRCm39) T92P probably damaging Het
Abca13 T C 11: 9,243,810 (GRCm39) V1891A probably benign Het
Abcc1 T A 16: 14,228,791 (GRCm39) I346N probably damaging Het
Afdn G T 17: 14,105,770 (GRCm39) probably null Het
Ahrr G A 13: 74,431,143 (GRCm39) probably benign Het
Akap13 A G 7: 75,264,678 (GRCm39) D507G probably damaging Het
Akap8 A T 17: 32,535,234 (GRCm39) M260K possibly damaging Het
Akr1b8 T C 6: 34,342,194 (GRCm39) V265A probably benign Het
Alpk3 C G 7: 80,728,358 (GRCm39) P496R possibly damaging Het
Ankrd13b A G 11: 77,363,571 (GRCm39) V249A possibly damaging Het
Arid4a T C 12: 71,122,604 (GRCm39) V995A probably benign Het
Ascc3 G T 10: 50,625,022 (GRCm39) V1637L probably benign Het
Atad2 G A 15: 57,977,653 (GRCm39) A499V probably damaging Het
Barhl2 G T 5: 106,605,253 (GRCm39) A152E possibly damaging Het
Bbs12 T A 3: 37,375,194 (GRCm39) D547E probably damaging Het
Btaf1 A G 19: 36,981,934 (GRCm39) M1655V probably damaging Het
Ccdc50 T A 16: 27,225,408 (GRCm39) H40Q probably damaging Het
Ccr9 A T 9: 123,603,617 (GRCm39) probably benign Het
Cdh15 A G 8: 123,592,175 (GRCm39) D654G probably damaging Het
Cebpz T C 17: 79,233,553 (GRCm39) D758G probably damaging Het
Cgn C T 3: 94,672,960 (GRCm39) R906K possibly damaging Het
Chil3 T A 3: 106,067,839 (GRCm39) M109L possibly damaging Het
Cntnap4 A T 8: 113,569,148 (GRCm39) probably null Het
Cyp4f18 C T 8: 72,754,856 (GRCm39) probably benign Het
Daam2 A G 17: 49,770,952 (GRCm39) probably null Het
Ddost T A 4: 138,037,922 (GRCm39) H220Q probably benign Het
Dennd2a C T 6: 39,441,135 (GRCm39) probably benign Het
Depdc1b G A 13: 108,510,375 (GRCm39) V296I possibly damaging Het
Dnaaf4 A T 9: 72,879,618 (GRCm39) D386V probably damaging Het
Dnah5 A T 15: 28,299,256 (GRCm39) R1539S probably benign Het
Dusp22 T C 13: 30,889,641 (GRCm39) I74T probably damaging Het
Epc1 A G 18: 6,440,202 (GRCm39) probably benign Het
Epha7 A G 4: 28,961,301 (GRCm39) I845V probably benign Het
Fanci C T 7: 79,057,165 (GRCm39) probably benign Het
Fbn1 T A 2: 125,205,564 (GRCm39) E1104V probably damaging Het
Fbxo8 T A 8: 57,043,132 (GRCm39) F205L probably damaging Het
Fcgbpl1 G T 7: 27,841,699 (GRCm39) V545L probably benign Het
Fetub T C 16: 22,748,506 (GRCm39) probably benign Het
Frs3 T C 17: 48,014,747 (GRCm39) V480A probably benign Het
Hrc T A 7: 44,985,921 (GRCm39) H357Q probably benign Het
Idh1 T C 1: 65,201,079 (GRCm39) M291V probably damaging Het
Il22b T A 10: 118,129,090 (GRCm39) H133L probably benign Het
Ino80b T C 6: 83,101,072 (GRCm39) E165G probably damaging Het
Inppl1 A T 7: 101,477,706 (GRCm39) probably benign Het
Ints15 G T 5: 143,293,643 (GRCm39) T278K probably benign Het
Ip6k2 T C 9: 108,676,432 (GRCm39) probably benign Het
Itga11 A T 9: 62,667,628 (GRCm39) I654F probably damaging Het
Jag2 G T 12: 112,876,997 (GRCm39) probably benign Het
Katna1 G T 10: 7,619,513 (GRCm39) probably benign Het
Kcnh4 G T 11: 100,636,995 (GRCm39) S707Y probably benign Het
Kcnn2 T G 18: 45,693,585 (GRCm39) L387R probably damaging Het
Khnyn A G 14: 56,125,425 (GRCm39) T503A probably damaging Het
Lama5 G T 2: 179,823,359 (GRCm39) probably benign Het
Lmbr1l A T 15: 98,806,654 (GRCm39) probably benign Het
Mast4 A T 13: 102,890,669 (GRCm39) S870T possibly damaging Het
Med1 A G 11: 98,058,400 (GRCm39) Y266H probably benign Het
Med13 A T 11: 86,236,829 (GRCm39) N109K probably benign Het
Mgam T C 6: 40,737,969 (GRCm39) probably benign Het
Mmp8 A G 9: 7,561,455 (GRCm39) Q153R probably benign Het
Mpeg1 C A 19: 12,439,055 (GRCm39) T171N probably benign Het
Mtus2 T C 5: 148,043,829 (GRCm39) S806P probably benign Het
Naip2 T A 13: 100,285,350 (GRCm39) E1226V probably damaging Het
Naip6 A G 13: 100,444,721 (GRCm39) F246L possibly damaging Het
Nav3 T C 10: 109,602,989 (GRCm39) I1187V possibly damaging Het
Nbeal1 T C 1: 60,344,529 (GRCm39) probably benign Het
Nbeal2 C A 9: 110,467,231 (GRCm39) V653L probably damaging Het
Ndufa9 G T 6: 126,804,495 (GRCm39) probably benign Het
Nlrp5 G T 7: 23,129,582 (GRCm39) C883F probably damaging Het
Nr0b2 C A 4: 133,283,303 (GRCm39) probably null Het
Or1m1 T A 9: 18,666,629 (GRCm39) M101L possibly damaging Het
Or6c209 T A 10: 129,483,600 (GRCm39) V201E probably damaging Het
Or6c69c G A 10: 129,910,692 (GRCm39) V138I probably benign Het
Or8b101 T A 9: 38,020,782 (GRCm39) S267T possibly damaging Het
Pkhd1 A T 1: 20,620,046 (GRCm39) probably null Het
Pkhd1l1 A G 15: 44,386,134 (GRCm39) probably benign Het
Ppm1l A G 3: 69,456,794 (GRCm39) K237R probably benign Het
Ppp1r18 T C 17: 36,184,603 (GRCm39) probably benign Het
Ptpn3 A T 4: 57,204,958 (GRCm39) D734E probably benign Het
Pxdn T C 12: 30,065,528 (GRCm39) C1283R probably damaging Het
Rbm12 A G 2: 155,937,644 (GRCm39) probably benign Het
Rttn A T 18: 89,027,584 (GRCm39) probably benign Het
Sgsm1 G T 5: 113,411,571 (GRCm39) H431Q probably benign Het
Siah3 A G 14: 75,763,367 (GRCm39) N206S possibly damaging Het
Slc22a15 G T 3: 101,767,827 (GRCm39) D521E probably benign Het
Sprr2k A T 3: 92,340,770 (GRCm39) probably benign Het
Stab2 G A 10: 86,803,477 (GRCm39) probably benign Het
Sval3 T A 6: 41,945,120 (GRCm39) L16Q probably damaging Het
Sycp2 C G 2: 178,023,648 (GRCm39) S456T probably benign Het
Tk1 T C 11: 117,707,921 (GRCm39) probably benign Het
Tlk2 C A 11: 105,145,799 (GRCm39) A335E probably benign Het
Tmtc1 T C 6: 148,151,079 (GRCm39) K659E probably benign Het
Tnk2 C T 16: 32,499,408 (GRCm39) P907L probably benign Het
Trim14 C A 4: 46,522,043 (GRCm39) K211N probably damaging Het
Trim15 A C 17: 37,177,878 (GRCm39) L39R probably damaging Het
Tspan15 T A 10: 62,023,872 (GRCm39) T269S probably benign Het
Ttc7 T A 17: 87,669,292 (GRCm39) D646E probably benign Het
Ttll6 A T 11: 96,038,382 (GRCm39) Q410L probably benign Het
Unc79 A G 12: 103,027,666 (GRCm39) Q419R probably damaging Het
Vcam1 A T 3: 115,908,065 (GRCm39) Y666N possibly damaging Het
Vmn1r10 A T 6: 57,090,486 (GRCm39) Y26F probably damaging Het
Vmn1r80 A G 7: 11,927,775 (GRCm39) N295S probably benign Het
Vmn2r114 A T 17: 23,509,917 (GRCm39) H854Q probably benign Het
Vmn2r2 A T 3: 64,042,039 (GRCm39) D225E probably damaging Het
Vmn2r4 A T 3: 64,296,855 (GRCm39) Y643* probably null Het
Vmn2r52 T A 7: 9,893,393 (GRCm39) Y582F probably damaging Het
Vmn2r60 G T 7: 41,844,564 (GRCm39) L642F possibly damaging Het
Zbtb20 T C 16: 43,430,109 (GRCm39) S207P probably damaging Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) probably benign Het
Zkscan7 G T 9: 122,717,958 (GRCm39) E118* probably null 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
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
Predicted Primers PCR Primer
(F):5'- TGCAGCACACATGGTAGTGAGC -3'
(R):5'- TTTCTCTTGATCCGAGCGACAGCC -3'

Sequencing Primer
(F):5'- CTGATAGAGTCATCAATGGTCCCG -3'
(R):5'- GACAGCCACTGGCTTTTTATG -3'
Posted On 2013-04-16