Incidental Mutation 'IGL02307:Glyctk'
ID287654
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glyctk
Ensembl Gene ENSMUSG00000020258
Gene Nameglycerate kinase
Synonyms6230410P16Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02307
Quality Score
Status
Chromosome9
Chromosomal Location106152857-106158138 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 106155764 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 350 (L350R)
Ref Sequence ENSEMBL: ENSMUSP00000108162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036382] [ENSMUST00000112543] [ENSMUST00000159809] [ENSMUST00000162562] [ENSMUST00000217417]
Predicted Effect possibly damaging
Transcript: ENSMUST00000036382
AA Change: L350R

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000047761
Gene: ENSMUSG00000020258
AA Change: L350R

DomainStartEndE-ValueType
Pfam:DUF4147 36 291 1.9e-84 PFAM
low complexity region 363 383 N/A INTRINSIC
Pfam:MOFRL 401 514 3.7e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083473
Predicted Effect possibly damaging
Transcript: ENSMUST00000112543
AA Change: L350R

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108162
Gene: ENSMUSG00000020258
AA Change: L350R

DomainStartEndE-ValueType
Pfam:DUF4147 37 290 1.6e-86 PFAM
low complexity region 363 383 N/A INTRINSIC
Pfam:MOFRL 402 514 7.6e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143956
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150953
Predicted Effect probably benign
Transcript: ENSMUST00000159809
SMART Domains Protein: ENSMUSP00000125369
Gene: ENSMUSG00000020258

DomainStartEndE-ValueType
Pfam:DUF4147 36 92 8.6e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160569
Predicted Effect probably benign
Transcript: ENSMUST00000162562
SMART Domains Protein: ENSMUSP00000125392
Gene: ENSMUSG00000020258

DomainStartEndE-ValueType
Pfam:DUF4147 36 124 6.4e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217417
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a member of the glycerate kinase type-2 family. The encoded enzyme catalyzes the phosphorylation of (R)-glycerate and may be involved in serine degradation and fructose metabolism. Decreased activity of the encoded enzyme may be associated with the disease D-glyceric aciduria. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 122,141,746 D323G probably damaging Het
Ankrd28 A G 14: 31,733,708 C417R probably damaging Het
Astn1 C T 1: 158,674,614 R1133C probably damaging Het
Bdp1 C A 13: 100,093,438 G256V probably damaging Het
Cald1 A G 6: 34,753,455 K252E probably damaging Het
Ccdc141 T C 2: 77,029,342 E985G probably damaging Het
Ccdc144b T C 3: 36,018,867 K422R possibly damaging Het
Cdc23 A G 18: 34,641,389 I279T possibly damaging Het
Col16a1 C T 4: 130,059,009 P416L probably damaging Het
Coro1a T C 7: 126,701,564 D197G probably damaging Het
Ctnnd2 C T 15: 30,647,211 T351I possibly damaging Het
Fam76b A G 9: 13,844,036 N313S probably damaging Het
Fbxw20 C A 9: 109,233,533 W75L possibly damaging Het
Gjd2 T C 2: 114,011,913 T28A possibly damaging Het
Gm10260 G T 13: 97,760,363 Q76K probably benign Het
Gm20726 A T 14: 54,632,603 V237D probably damaging Het
Gpr22 C A 12: 31,708,740 C461F possibly damaging Het
Grhl2 A G 15: 37,288,288 T279A probably damaging Het
Gstm3 G A 3: 107,967,613 R108C probably damaging Het
Haus6 T C 4: 86,583,835 T600A possibly damaging Het
Htra4 G A 8: 25,033,694 A285V probably damaging Het
Igkv14-100 C T 6: 68,519,365 P81S probably damaging Het
Kif24 T G 4: 41,395,274 Q533P probably benign Het
Klhl1 A T 14: 96,201,373 N496K possibly damaging Het
Lama3 G T 18: 12,581,783 R1667L probably benign Het
Lct T A 1: 128,286,590 H1815L possibly damaging Het
Mrgprb2 T A 7: 48,552,896 Y27F probably benign Het
Mrpl15 A T 1: 4,783,953 H86Q possibly damaging Het
Myo10 C T 15: 25,776,315 probably benign Het
Nrp1 T C 8: 128,502,720 L893P probably damaging Het
Olfr570 A T 7: 102,900,879 N171Y probably benign Het
Olfr733 A C 14: 50,298,838 I157S probably damaging Het
Ovol1 T A 19: 5,553,615 D86V possibly damaging Het
Pacs2 T A 12: 113,070,773 M851K probably damaging Het
Pde1a A T 2: 79,906,068 M39K possibly damaging Het
Pdpn T C 4: 143,273,980 H94R possibly damaging Het
Plcg2 T A 8: 117,579,896 probably null Het
Pzp A T 6: 128,489,086 Y1210* probably null Het
Rnf148 G T 6: 23,654,891 S35R probably benign Het
Ros1 A T 10: 52,128,438 S1008T possibly damaging Het
Sis A T 3: 72,911,834 probably benign Het
Spag9 T A 11: 94,102,160 probably null Het
Srbd1 A G 17: 86,126,188 L327P probably damaging Het
Steap3 A T 1: 120,241,660 Y264* probably null Het
Swap70 A G 7: 110,281,294 E572G probably benign Het
Traf7 C A 17: 24,513,046 C193F possibly damaging Het
Trmt11 T C 10: 30,594,154 D58G possibly damaging Het
Tsc22d1 T C 14: 76,416,461 S127P probably damaging Het
Usf1 T A 1: 171,415,746 S30R probably damaging Het
Ush1c A G 7: 46,197,188 probably benign Het
Utrn A T 10: 12,750,065 L124* probably null Het
Vmn2r75 T C 7: 86,165,766 N173S probably benign Het
Zic2 T C 14: 122,476,634 V320A possibly damaging Het
Other mutations in Glyctk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01612:Glyctk APN 9 106155272 missense probably damaging 1.00
IGL02581:Glyctk APN 9 106157781 missense probably benign
R0106:Glyctk UTSW 9 106155969 missense probably benign 0.00
R1465:Glyctk UTSW 9 106157607 missense probably damaging 1.00
R1465:Glyctk UTSW 9 106157607 missense probably damaging 1.00
R1652:Glyctk UTSW 9 106157157 missense probably damaging 1.00
R1859:Glyctk UTSW 9 106157532 missense probably benign 0.08
R1870:Glyctk UTSW 9 106155348 missense probably damaging 1.00
R1962:Glyctk UTSW 9 106157865 start codon destroyed probably null 0.99
R3875:Glyctk UTSW 9 106157621 missense probably damaging 1.00
R4167:Glyctk UTSW 9 106157762 missense probably benign 0.01
R4407:Glyctk UTSW 9 106157108 intron probably benign
R5860:Glyctk UTSW 9 106155707 missense possibly damaging 0.54
R6167:Glyctk UTSW 9 106156492 missense possibly damaging 0.75
R6240:Glyctk UTSW 9 106156262 intron probably null
R7253:Glyctk UTSW 9 106155462 missense probably damaging 1.00
X0004:Glyctk UTSW 9 106155719 missense probably benign
Posted On2015-04-16