Incidental Mutation 'R1652:Glyctk'
ID 188795
Institutional Source Beutler Lab
Gene Symbol Glyctk
Ensembl Gene ENSMUSG00000020258
Gene Name glycerate kinase
Synonyms 6230410P16Rik
MMRRC Submission 039688-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1652 (G1)
Quality Score 161
Status Not validated
Chromosome 9
Chromosomal Location 106030056-106035337 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 106034356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 173 (V173L)
Ref Sequence ENSEMBL: ENSMUSP00000108162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036382] [ENSMUST00000112543] [ENSMUST00000159809] [ENSMUST00000217417] [ENSMUST00000162562]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000036382
AA Change: V173L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047761
Gene: ENSMUSG00000020258
AA Change: V173L

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 probably damaging
Transcript: ENSMUST00000112543
AA Change: V173L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108162
Gene: ENSMUSG00000020258
AA Change: V173L

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 possibly damaging
Transcript: ENSMUST00000217417
AA Change: V32L

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000162562
SMART Domains Protein: ENSMUSP00000125392
Gene: ENSMUSG00000020258

DomainStartEndE-ValueType
Pfam:DUF4147 36 124 6.4e-17 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.6%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 T A 14: 66,314,700 (GRCm39) E37V probably benign Het
Adamts7 A G 9: 90,071,697 (GRCm39) D664G probably damaging Het
Adamtsl5 A G 10: 80,178,011 (GRCm39) V256A probably benign Het
Adrb1 C T 19: 56,711,705 (GRCm39) S301L possibly damaging Het
Akap9 A G 5: 4,127,210 (GRCm39) Y3686C probably damaging Het
Ap3b2 A G 7: 81,123,147 (GRCm39) S456P probably damaging Het
Atp1a4 T C 1: 172,082,470 (GRCm39) Y124C probably damaging Het
Bdkrb1 A T 12: 105,570,502 (GRCm39) T23S probably damaging Het
Cacna1g A G 11: 94,318,230 (GRCm39) Y1468H probably damaging Het
Cep170b A G 12: 112,699,947 (GRCm39) D152G probably damaging Het
Cers4 T A 8: 4,566,908 (GRCm39) probably null Het
Cplane1 G T 15: 8,230,630 (GRCm39) R969L probably damaging Het
Cyp2t4 A T 7: 26,856,815 (GRCm39) D285V possibly damaging Het
Ddx56 A T 11: 6,217,679 (GRCm39) L14Q probably damaging Het
Dennd2d C A 3: 106,394,317 (GRCm39) R63S probably benign Het
Dnah7b T A 1: 46,214,550 (GRCm39) L1105* probably null Het
Eef1e1 A T 13: 38,840,081 (GRCm39) L75I possibly damaging Het
Eif1ad11 T A 12: 87,993,853 (GRCm39) V27E probably benign Het
Fam76b A G 9: 13,747,188 (GRCm39) S191G probably benign Het
Fat1 T A 8: 45,478,215 (GRCm39) Y2420* probably null Het
Fbxw18 T A 9: 109,519,695 (GRCm39) L270F probably benign Het
Fech T A 18: 64,591,269 (GRCm39) H385L probably benign Het
Fkbp4 A T 6: 128,413,637 (GRCm39) I2N probably damaging Het
Gda A T 19: 21,378,042 (GRCm39) M339K probably damaging Het
Gdpgp1 T A 7: 79,889,112 (GRCm39) M381K probably benign Het
Gtf2ird1 G A 5: 134,424,567 (GRCm39) P393L probably damaging Het
Kat2a T C 11: 100,599,437 (GRCm39) N517D probably damaging Het
Krt84 G A 15: 101,434,398 (GRCm39) S523F possibly damaging Het
Lama1 G A 17: 68,114,841 (GRCm39) R2330Q probably damaging Het
Lamc1 C T 1: 153,125,392 (GRCm39) G597E probably damaging Het
Lekr1 A T 3: 65,591,508 (GRCm39) S82C probably benign Het
Lgi3 T C 14: 70,768,656 (GRCm39) F51S probably damaging Het
Lrba T C 3: 86,447,245 (GRCm39) S2030P probably damaging Het
Map4k5 A G 12: 69,877,201 (GRCm39) probably null Het
Mcoln2 C A 3: 145,869,390 (GRCm39) R32S possibly damaging Het
Metap1 A T 3: 138,168,151 (GRCm39) F324L probably damaging Het
Moxd2 C T 6: 40,864,337 (GRCm39) R31H probably damaging Het
Ncf4 T A 15: 78,145,234 (GRCm39) M274K possibly damaging Het
Nup205 T G 6: 35,215,901 (GRCm39) V1747G probably benign Het
Or10d3 G A 9: 39,461,591 (GRCm39) T192I probably benign Het
Or52r1c A G 7: 102,735,013 (GRCm39) D91G probably benign Het
Or5ae1 T C 7: 84,565,728 (GRCm39) V247A probably damaging Het
Pbx3 C T 2: 34,114,568 (GRCm39) G122D probably damaging Het
Plcb3 A G 19: 6,932,664 (GRCm39) F1034L probably benign Het
Ppp2r1a G A 17: 21,176,236 (GRCm39) V153I probably benign Het
Prss33 C G 17: 24,054,115 (GRCm39) M30I probably benign Het
Prss33 A T 17: 24,054,116 (GRCm39) M30K probably benign Het
R3hdm2 G A 10: 127,330,960 (GRCm39) S793N probably benign Het
Rab11fip5 C T 6: 85,325,279 (GRCm39) V343M probably damaging Het
Rere A G 4: 150,696,522 (GRCm39) probably benign Het
Rims1 G T 1: 22,363,090 (GRCm39) P52Q probably damaging Het
Scpep1 G T 11: 88,843,260 (GRCm39) S66* probably null Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Shc3 A T 13: 51,626,875 (GRCm39) H129Q probably damaging Het
Slc22a20 A T 19: 6,022,970 (GRCm39) M391K probably damaging Het
Smurf1 A T 5: 144,817,474 (GRCm39) I712K probably damaging Het
Snx25 T A 8: 46,502,510 (GRCm39) I629L probably damaging Het
Supt16 A C 14: 52,414,637 (GRCm39) V425G probably benign Het
Tnik G A 3: 28,658,442 (GRCm39) V576I probably benign Het
Trcg1 A C 9: 57,152,856 (GRCm39) D551A probably damaging Het
Ubald2 A G 11: 116,325,178 (GRCm39) N15S probably damaging Het
Usf1 T C 1: 171,245,317 (GRCm39) I243T probably damaging Het
Vmn2r19 A T 6: 123,292,656 (GRCm39) I233F possibly damaging Het
Vmn2r63 T C 7: 42,577,635 (GRCm39) N301S probably benign Het
Wdr27 A G 17: 15,137,532 (GRCm39) F419L probably benign Het
Other mutations in Glyctk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01612:Glyctk APN 9 106,032,471 (GRCm39) missense probably damaging 1.00
IGL02307:Glyctk APN 9 106,032,963 (GRCm39) missense possibly damaging 0.64
IGL02581:Glyctk APN 9 106,034,980 (GRCm39) missense probably benign
R0106:Glyctk UTSW 9 106,033,168 (GRCm39) missense probably benign 0.00
R1465:Glyctk UTSW 9 106,034,806 (GRCm39) missense probably damaging 1.00
R1465:Glyctk UTSW 9 106,034,806 (GRCm39) missense probably damaging 1.00
R1859:Glyctk UTSW 9 106,034,731 (GRCm39) missense probably benign 0.08
R1870:Glyctk UTSW 9 106,032,547 (GRCm39) missense probably damaging 1.00
R1962:Glyctk UTSW 9 106,035,064 (GRCm39) start codon destroyed probably null 0.99
R3875:Glyctk UTSW 9 106,034,820 (GRCm39) missense probably damaging 1.00
R4167:Glyctk UTSW 9 106,034,961 (GRCm39) missense probably benign 0.01
R4407:Glyctk UTSW 9 106,034,307 (GRCm39) intron probably benign
R5860:Glyctk UTSW 9 106,032,906 (GRCm39) missense possibly damaging 0.54
R6167:Glyctk UTSW 9 106,033,691 (GRCm39) missense possibly damaging 0.75
R6240:Glyctk UTSW 9 106,033,461 (GRCm39) splice site probably null
R7253:Glyctk UTSW 9 106,032,661 (GRCm39) missense probably damaging 1.00
R7889:Glyctk UTSW 9 106,033,638 (GRCm39) missense unknown
R8128:Glyctk UTSW 9 106,032,501 (GRCm39) missense probably benign 0.03
R8161:Glyctk UTSW 9 106,034,892 (GRCm39) missense probably benign 0.10
R8407:Glyctk UTSW 9 106,033,141 (GRCm39) missense probably benign 0.06
R9077:Glyctk UTSW 9 106,032,522 (GRCm39) missense probably benign
X0004:Glyctk UTSW 9 106,032,918 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTCAGGAGCACGAATGACACCG -3'
(R):5'- TTCTCAGAGAGATGCTGCTGAAGCC -3'

Sequencing Primer
(F):5'- GACAGCAATGTCTTCCAAAGGTTC -3'
(R):5'- GCTGCTGAAGCCACACAG -3'
Posted On 2014-05-09