Incidental Mutation 'R8407:Glyctk'
ID 652474
Institutional Source Beutler Lab
Gene Symbol Glyctk
Ensembl Gene ENSMUSG00000020258
Gene Name glycerate kinase
Synonyms 6230410P16Rik
MMRRC Submission 067814-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8407 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 106030056-106035337 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 106033141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 291 (A291T)
Ref Sequence ENSEMBL: ENSMUSP00000047761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036382] [ENSMUST00000112543] [ENSMUST00000159809] [ENSMUST00000162562] [ENSMUST00000217417]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000036382
AA Change: A291T

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000047761
Gene: ENSMUSG00000020258
AA Change: A291T

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 probably benign
Transcript: ENSMUST00000112543
AA Change: A291T

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000108162
Gene: ENSMUSG00000020258
AA Change: A291T

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 probably benign
Transcript: ENSMUST00000159809
SMART Domains Protein: ENSMUSP00000125369
Gene: ENSMUSG00000020258

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

DomainStartEndE-ValueType
Pfam:DUF4147 36 124 6.4e-17 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000217417
AA Change: S133N
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly T C 11: 100,384,897 (GRCm39) I629V possibly damaging Het
Ahnak C T 19: 8,993,037 (GRCm39) P4774S probably benign Het
Arhgef12 C T 9: 42,937,475 (GRCm39) probably null Het
BC048562 T A 9: 108,315,631 (GRCm39) S12R possibly damaging Het
Calhm2 G A 19: 47,098,755 (GRCm39) Q310* probably null Het
Celsr3 A G 9: 108,706,256 (GRCm39) E913G probably damaging Het
Cep68 T C 11: 20,190,446 (GRCm39) S189G possibly damaging Het
Cilp C A 9: 65,181,898 (GRCm39) P336T probably damaging Het
Cnot4 A G 6: 35,033,154 (GRCm39) S288P probably benign Het
Cst13 T C 2: 148,665,124 (GRCm39) S40P probably damaging Het
Cyp4f37 A T 17: 32,853,158 (GRCm39) D374V probably damaging Het
Ddit3 A G 10: 127,131,318 (GRCm39) T37A probably benign Het
Dnah2 T C 11: 69,350,104 (GRCm39) N2343S probably benign Het
Emp3 G A 7: 45,569,445 (GRCm39) P32L probably damaging Het
Esyt1 G T 10: 128,347,796 (GRCm39) L965M probably damaging Het
Fbxw28 T A 9: 109,155,269 (GRCm39) I406L probably benign Het
Fgf10 A G 13: 118,851,938 (GRCm39) T7A possibly damaging Het
Frs3 A T 17: 48,009,552 (GRCm39) D11V probably damaging Het
Glmn A G 5: 107,718,057 (GRCm39) S287P probably benign Het
H2bc12 G T 13: 22,220,217 (GRCm39) G54V probably damaging Het
Ibtk A T 9: 85,603,119 (GRCm39) F629I possibly damaging Het
Kcnh8 C A 17: 53,212,101 (GRCm39) A633E probably damaging Het
Kif24 T C 4: 41,394,488 (GRCm39) N929S probably benign Het
Ldlrap1 T C 4: 134,484,736 (GRCm39) K86R probably damaging Het
Lfng G A 5: 140,598,981 (GRCm39) E297K probably damaging Het
Lmod1 A G 1: 135,291,763 (GRCm39) K206R probably benign Het
Lmod1 C A 1: 135,292,734 (GRCm39) P530T possibly damaging Het
Lnp1 A T 16: 56,748,251 (GRCm39) S14T probably benign Het
Map3k6 T A 4: 132,974,904 (GRCm39) Y646N possibly damaging Het
Mapk14 G A 17: 28,963,983 (GRCm39) V290I probably benign Het
Mrpl22 C A 11: 58,066,156 (GRCm39) Y83* probably null Het
Myh6 T C 14: 55,201,388 (GRCm39) N104D probably benign Het
Nalcn T A 14: 123,554,683 (GRCm39) M903L probably damaging Het
Nfat5 C T 8: 108,094,047 (GRCm39) Q763* probably null Het
Or5w19 A C 2: 87,698,437 (GRCm39) Y34S probably damaging Het
Plin1 T C 7: 79,373,051 (GRCm39) D306G probably benign Het
Ppp1r12a T A 10: 108,076,042 (GRCm39) probably null Het
Prelid1 T A 13: 55,470,672 (GRCm39) H33Q probably damaging Het
Prkcz C T 4: 155,352,673 (GRCm39) A485T probably damaging Het
Ptch1 T C 13: 63,662,057 (GRCm39) E1169G probably null Het
Rps19 C A 7: 24,588,517 (GRCm39) T181K unknown Het
Skic2 G A 17: 35,060,103 (GRCm39) A889V probably benign Het
Slc22a3 A C 17: 12,640,368 (GRCm39) C538G probably benign Het
Slc2a10 T A 2: 165,356,787 (GRCm39) F149Y possibly damaging Het
Smarcal1 A G 1: 72,640,554 (GRCm39) I516M probably benign Het
Smarcc2 T A 10: 128,318,190 (GRCm39) W601R probably damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Srp68 A G 11: 116,143,589 (GRCm39) S369P probably benign Het
Tex2 C T 11: 106,459,221 (GRCm39) E70K probably damaging Het
Ticam2 A G 18: 46,693,590 (GRCm39) S166P probably damaging Het
Trpv5 A G 6: 41,652,272 (GRCm39) S138P probably benign Het
Ttll8 C T 15: 88,798,741 (GRCm39) V665I probably benign Het
Vmn2r81 T C 10: 79,104,028 (GRCm39) L217P possibly damaging Het
Zbtb4 T C 11: 69,669,101 (GRCm39) V608A probably benign Het
Zfp957 A G 14: 79,451,352 (GRCm39) V149A possibly damaging 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
R1652:Glyctk UTSW 9 106,034,356 (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
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'- CTTTACCACCGCTTCCAGAG -3'
(R):5'- GCCTTTGTCTAGGTGATAAGCC -3'

Sequencing Primer
(F):5'- TAGCAGCCCGTAGAACCGAG -3'
(R):5'- CTAGGTGATAAGCCTCATCTTGTCAG -3'
Posted On 2020-10-20