Incidental Mutation 'R0591:Dglucy'
ID 55996
Institutional Source Beutler Lab
Gene Symbol Dglucy
Ensembl Gene ENSMUSG00000021185
Gene Name D-glutamate cyclase
Synonyms 9030617O03Rik
MMRRC Submission 038781-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R0591 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 100745316-100838869 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 100825777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069782] [ENSMUST00000110069] [ENSMUST00000110070] [ENSMUST00000110073] [ENSMUST00000167322]
AlphaFold Q8BH86
Predicted Effect probably benign
Transcript: ENSMUST00000069782
SMART Domains Protein: ENSMUSP00000067830
Gene: ENSMUSG00000021185

DomainStartEndE-ValueType
Pfam:DUF1445 115 257 1.1e-51 PFAM
Pfam:DUF4392 298 612 4.2e-100 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110069
SMART Domains Protein: ENSMUSP00000105696
Gene: ENSMUSG00000021185

DomainStartEndE-ValueType
Pfam:DUF1445 115 257 1.1e-51 PFAM
Pfam:DUF4392 298 612 4.2e-100 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110070
SMART Domains Protein: ENSMUSP00000105697
Gene: ENSMUSG00000021185

DomainStartEndE-ValueType
Pfam:DUF1445 115 257 2.8e-51 PFAM
Pfam:DUF4392 298 563 2.5e-87 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110073
SMART Domains Protein: ENSMUSP00000105700
Gene: ENSMUSG00000021185

DomainStartEndE-ValueType
Pfam:DUF1445 145 287 7.2e-54 PFAM
Pfam:DUF4392 329 640 2.3e-124 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117972
Predicted Effect probably benign
Transcript: ENSMUST00000167322
SMART Domains Protein: ENSMUSP00000129876
Gene: ENSMUSG00000021185

DomainStartEndE-ValueType
Pfam:DUF1445 115 257 1.1e-51 PFAM
Pfam:DUF4392 298 612 4.2e-100 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222484
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221802
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.2%
  • 10x: 97.7%
  • 20x: 95.3%
Validation Efficiency 100% (62/62)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit elevated D-glutamate levels in the heart. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G T 3: 137,774,704 (GRCm39) E1298* probably null Het
Aadacl2fm2 C A 3: 59,659,550 (GRCm39) Y334* probably null Het
Adam19 T C 11: 46,012,238 (GRCm39) probably benign Het
Agt A T 8: 125,283,678 (GRCm39) S480R possibly damaging Het
Anapc1 G T 2: 128,461,252 (GRCm39) D1769E probably benign Het
Aox4 T C 1: 58,278,261 (GRCm39) probably benign Het
Apol9b G A 15: 77,619,830 (GRCm39) V209I possibly damaging Het
Appl2 A T 10: 83,460,509 (GRCm39) I116K possibly damaging Het
BC051665 A G 13: 60,932,422 (GRCm39) probably benign Het
Cactin G T 10: 81,159,837 (GRCm39) E89* probably null Het
Carf G T 1: 60,165,073 (GRCm39) probably benign Het
Ccdc167 A G 17: 29,924,235 (GRCm39) probably benign Het
Ceacam3 G A 7: 16,885,808 (GRCm39) probably null Het
Clca4b T A 3: 144,621,353 (GRCm39) K574* probably null Het
Crabp1 T A 9: 54,672,887 (GRCm39) I64N probably damaging Het
Dgkd T A 1: 87,842,826 (GRCm39) I118N probably damaging Het
Dock10 C T 1: 80,518,936 (GRCm39) probably benign Het
Ednrb A T 14: 104,060,710 (GRCm39) probably null Het
Ercc6 T C 14: 32,279,973 (GRCm39) probably benign Het
Golga3 A C 5: 110,336,609 (GRCm39) Q416P probably damaging Het
Gpr12 A G 5: 146,520,445 (GRCm39) V159A probably benign Het
Heatr5a A T 12: 51,956,884 (GRCm39) probably benign Het
Helz2 A G 2: 180,873,909 (GRCm39) I2195T probably damaging Het
Hikeshi A T 7: 89,569,295 (GRCm39) N76K possibly damaging Het
Hsd11b1 T C 1: 192,911,984 (GRCm39) probably benign Het
Iftap A T 2: 101,406,462 (GRCm39) D155E probably benign Het
Inhba A T 13: 16,201,405 (GRCm39) K322N probably damaging Het
Katnal1 A T 5: 148,829,326 (GRCm39) F291L probably damaging Het
Kcnj9 T C 1: 172,150,665 (GRCm39) E316G probably damaging Het
Lrsam1 A G 2: 32,823,935 (GRCm39) probably benign Het
Mcf2l T G 8: 13,068,751 (GRCm39) S1075A probably benign Het
Mios T C 6: 8,215,470 (GRCm39) V222A possibly damaging Het
Mycbp2 A T 14: 103,433,827 (GRCm39) probably benign Het
Nars1 A T 18: 64,633,638 (GRCm39) I544N probably damaging Het
Or5ak23 A G 2: 85,245,034 (GRCm39) L63P possibly damaging Het
Pbrm1 A G 14: 30,768,387 (GRCm39) probably benign Het
Plcb4 A G 2: 135,796,932 (GRCm39) probably benign Het
Pnliprp1 A G 19: 58,723,138 (GRCm39) D213G probably damaging Het
Psap A G 10: 60,136,634 (GRCm39) N538D possibly damaging Het
Ptdss1 A G 13: 67,120,714 (GRCm39) probably benign Het
Rap1b G A 10: 117,654,522 (GRCm39) probably benign Het
Rhcg T A 7: 79,244,520 (GRCm39) probably benign Het
Ryr1 G A 7: 28,804,220 (GRCm39) T550I possibly damaging Het
Samm50 G A 15: 84,095,369 (GRCm39) G452R probably benign Het
Scin A G 12: 40,130,929 (GRCm39) probably null Het
Sesn3 T C 9: 14,219,854 (GRCm39) L81S probably damaging Het
Skint6 A C 4: 112,715,366 (GRCm39) probably benign Het
Slc30a4 A T 2: 122,527,160 (GRCm39) L411H probably damaging Het
Slc44a5 C T 3: 153,939,782 (GRCm39) probably benign Het
Slc4a3 C T 1: 75,525,665 (GRCm39) A255V probably damaging Het
Slc9b1 A G 3: 135,088,593 (GRCm39) N318S possibly damaging Het
Tcp11l2 A T 10: 84,440,458 (GRCm39) H287L probably benign Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Tnks2 T A 19: 36,849,962 (GRCm39) Y605N probably damaging Het
Topbp1 T A 9: 103,227,037 (GRCm39) N1490K probably benign Het
Ube4b T G 4: 149,442,034 (GRCm39) probably benign Het
Usp4 G A 9: 108,225,228 (GRCm39) probably benign Het
Vezf1 A T 11: 88,068,435 (GRCm38) probably benign Het
Vmn1r184 A T 7: 25,966,500 (GRCm39) D82V probably damaging Het
Other mutations in Dglucy
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01483:Dglucy APN 12 100,819,476 (GRCm39) missense probably damaging 1.00
IGL01885:Dglucy APN 12 100,816,540 (GRCm39) missense probably damaging 0.97
IGL01911:Dglucy APN 12 100,804,784 (GRCm39) missense probably damaging 0.96
IGL02240:Dglucy APN 12 100,837,672 (GRCm39) missense possibly damaging 0.51
IGL02388:Dglucy APN 12 100,823,257 (GRCm39) missense probably damaging 1.00
IGL02653:Dglucy APN 12 100,837,690 (GRCm39) missense probably benign
IGL02829:Dglucy APN 12 100,837,663 (GRCm39) missense probably damaging 1.00
R0096:Dglucy UTSW 12 100,804,910 (GRCm39) missense possibly damaging 0.94
R0096:Dglucy UTSW 12 100,804,910 (GRCm39) missense possibly damaging 0.94
R1723:Dglucy UTSW 12 100,808,938 (GRCm39) missense probably damaging 1.00
R1765:Dglucy UTSW 12 100,816,361 (GRCm39) splice site probably null
R1926:Dglucy UTSW 12 100,833,414 (GRCm39) missense possibly damaging 0.94
R1968:Dglucy UTSW 12 100,825,903 (GRCm39) missense possibly damaging 0.95
R2004:Dglucy UTSW 12 100,823,181 (GRCm39) missense probably damaging 1.00
R3117:Dglucy UTSW 12 100,804,937 (GRCm39) missense probably benign
R3716:Dglucy UTSW 12 100,816,375 (GRCm39) missense probably damaging 0.97
R3946:Dglucy UTSW 12 100,804,959 (GRCm39) critical splice donor site probably null
R3976:Dglucy UTSW 12 100,807,648 (GRCm39) missense probably benign 0.01
R4782:Dglucy UTSW 12 100,816,602 (GRCm39) missense probably benign 0.00
R4784:Dglucy UTSW 12 100,804,923 (GRCm39) missense probably damaging 0.99
R4799:Dglucy UTSW 12 100,816,602 (GRCm39) missense probably benign 0.00
R5037:Dglucy UTSW 12 100,801,500 (GRCm39) missense probably benign 0.09
R5468:Dglucy UTSW 12 100,816,594 (GRCm39) missense probably benign 0.01
R5609:Dglucy UTSW 12 100,753,905 (GRCm39) missense probably null
R5994:Dglucy UTSW 12 100,808,959 (GRCm39) missense probably benign 0.00
R6452:Dglucy UTSW 12 100,801,468 (GRCm39) missense possibly damaging 0.93
R7257:Dglucy UTSW 12 100,808,997 (GRCm39) missense probably damaging 1.00
R7488:Dglucy UTSW 12 100,823,310 (GRCm39) missense possibly damaging 0.95
R7580:Dglucy UTSW 12 100,816,423 (GRCm39) missense probably benign 0.29
R7589:Dglucy UTSW 12 100,807,660 (GRCm39) missense probably damaging 1.00
R8181:Dglucy UTSW 12 100,816,370 (GRCm39) critical splice acceptor site probably null
R8189:Dglucy UTSW 12 100,804,889 (GRCm39) missense probably benign 0.01
R8383:Dglucy UTSW 12 100,801,588 (GRCm39) missense probably benign 0.27
R8421:Dglucy UTSW 12 100,808,938 (GRCm39) missense probably damaging 1.00
R8719:Dglucy UTSW 12 100,804,821 (GRCm39) missense probably damaging 1.00
R8766:Dglucy UTSW 12 100,837,706 (GRCm39) missense probably benign
R9182:Dglucy UTSW 12 100,811,028 (GRCm39) missense possibly damaging 0.70
X0025:Dglucy UTSW 12 100,804,923 (GRCm39) missense possibly damaging 0.84
X0061:Dglucy UTSW 12 100,804,857 (GRCm39) missense probably benign 0.04
Z1176:Dglucy UTSW 12 100,819,563 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- AGACACAGTCCCACTCTAGCGAG -3'
(R):5'- CATAGAGATAGAGCTGGGTTGCTCCTT -3'

Sequencing Primer
(F):5'- AGCTCCAAAGTTAGGTTCACTTC -3'
(R):5'- cccagaaataagtccctccc -3'
Posted On 2013-07-11