Incidental Mutation 'R8181:Dglucy'
ID 634637
Institutional Source Beutler Lab
Gene Symbol Dglucy
Ensembl Gene ENSMUSG00000021185
Gene Name D-glutamate cyclase
Synonyms 9030617O03Rik
MMRRC Submission 067605-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R8181 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 100745316-100838869 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 100816370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000067830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069782] [ENSMUST00000110069] [ENSMUST00000110070] [ENSMUST00000110073] [ENSMUST00000167322]
AlphaFold Q8BH86
Predicted Effect probably null
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 null
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 null
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 null
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 probably null
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (73/73)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G A 3: 137,774,156 (GRCm39) S1115N probably damaging Het
Abca1 A G 4: 53,059,303 (GRCm39) V1551A probably benign Het
Adam30 T C 3: 98,070,291 (GRCm39) I708T probably benign Het
Aknad1 T A 3: 108,659,328 (GRCm39) L114H possibly damaging Het
Akr1c18 G A 13: 4,185,262 (GRCm39) S290L probably benign Het
Aldh18a1 G T 19: 40,545,881 (GRCm39) D635E probably benign Het
Bax G T 7: 45,115,698 (GRCm39) P23Q probably null Het
Bhlha15 A T 5: 144,128,244 (GRCm39) N119Y probably damaging Het
Boll T A 1: 55,402,478 (GRCm39) M1L probably benign Het
C2cd2 A T 16: 97,693,502 (GRCm39) I123N probably benign Het
Cacnb4 A C 2: 52,364,997 (GRCm39) S89A probably benign Het
Calca A G 7: 114,234,387 (GRCm39) C21R probably benign Het
Calcr T C 6: 3,693,899 (GRCm39) I325M probably benign Het
Card14 T A 11: 119,212,718 (GRCm39) F94Y probably damaging Het
Chil3 A C 3: 106,057,203 (GRCm39) I247S probably damaging Het
Clca3b T C 3: 144,544,898 (GRCm39) N363S probably benign Het
Cnksr3 A G 10: 7,070,475 (GRCm39) V494A possibly damaging Het
Cog4 A G 8: 111,578,717 (GRCm39) probably null Het
Crybg1 T A 10: 43,862,322 (GRCm39) Y1484F probably damaging Het
Dmp1 T A 5: 104,359,380 (GRCm39) probably null Het
Dscaml1 T A 9: 45,658,140 (GRCm39) I1637N possibly damaging Het
Ercc6 T A 14: 32,279,905 (GRCm39) I640N probably damaging Het
Esp16 G T 17: 39,850,707 (GRCm39) E29* probably null Het
Fam149a T C 8: 45,834,755 (GRCm39) I15V possibly damaging Het
Flt4 T A 11: 49,525,723 (GRCm39) I724N probably damaging Het
Glb1 C T 9: 114,259,429 (GRCm39) R202C probably damaging Het
Gmpr2 C A 14: 55,910,441 (GRCm39) S41* probably null Het
Golgb1 T A 16: 36,737,192 (GRCm39) D2187E probably damaging Het
Gpsm2 A G 3: 108,597,080 (GRCm39) probably null Het
Helz A G 11: 107,563,399 (GRCm39) D1613G unknown Het
Hemgn A C 4: 46,396,504 (GRCm39) M244R possibly damaging Het
Hsd3b1 A T 3: 98,763,453 (GRCm39) V56E probably damaging Het
Jup A T 11: 100,267,751 (GRCm39) I524N probably damaging Het
Kdm1b G T 13: 47,205,377 (GRCm39) probably null Het
Kif11 A T 19: 37,379,095 (GRCm39) probably null Het
Lars1 A T 18: 42,361,835 (GRCm39) W591R probably damaging Het
Lrtm1 T A 14: 28,743,894 (GRCm39) S121T probably damaging Het
Med12l A C 3: 59,169,389 (GRCm39) D1593A probably damaging Het
Med17 A T 9: 15,188,928 (GRCm39) D112E possibly damaging Het
Mettl2 T A 11: 105,019,866 (GRCm39) F168I probably benign Het
Mmp9 A T 2: 164,792,365 (GRCm39) D323V probably damaging Het
Mpzl2 C T 9: 44,961,006 (GRCm39) T214I probably benign Het
Ms4a15 T C 19: 10,958,670 (GRCm39) H134R probably benign Het
Ms4a6d T A 19: 11,580,653 (GRCm39) I2F probably damaging Het
Muc3a G A 5: 137,244,535 (GRCm39) P206S unknown Het
Nectin2 C A 7: 19,458,733 (GRCm39) L359F probably damaging Het
Or2y6 C A 11: 52,104,096 (GRCm39) C240F probably damaging Het
Or4f53 T A 2: 111,087,918 (GRCm39) F153I probably benign Het
Pgm2 G T 5: 64,269,467 (GRCm39) C518F possibly damaging Het
Plppr4 A G 3: 117,116,114 (GRCm39) V581A probably damaging Het
Prkra G C 2: 76,469,634 (GRCm39) L142V probably damaging Het
Prpf38a G A 4: 108,434,195 (GRCm39) T74I probably benign Het
Ptprs T A 17: 56,736,064 (GRCm39) N635I probably damaging Het
Rxfp2 A G 5: 149,987,201 (GRCm39) N361D probably benign Het
Ryr3 T G 2: 112,608,588 (GRCm39) I2351L probably damaging Het
Sfmbt2 A T 2: 10,580,190 (GRCm39) T618S probably benign Het
Six6 A G 12: 72,986,906 (GRCm39) D26G probably damaging Het
Slc20a1 T C 2: 129,051,047 (GRCm39) L568P probably damaging Het
Slx4ip T A 2: 136,842,104 (GRCm39) C10S probably damaging Het
Sox13 G T 1: 133,311,498 (GRCm39) T578K probably benign Het
Spire2 A T 8: 124,088,042 (GRCm39) S509C probably damaging Het
Sptbn4 T C 7: 27,074,808 (GRCm39) D1521G possibly damaging Het
Sult2a7 T C 7: 14,204,098 (GRCm39) T207A probably benign Het
Sun2 A G 15: 79,609,721 (GRCm39) I708T probably damaging Het
Supt5 T C 7: 28,030,899 (GRCm39) E44G unknown Het
Thsd1 A G 8: 22,733,022 (GRCm39) E23G probably damaging Het
Ticrr T C 7: 79,310,728 (GRCm39) V214A possibly damaging Het
Vmn2r74 A T 7: 85,605,324 (GRCm39) F441L probably damaging Het
Zfp30 A G 7: 29,493,080 (GRCm39) T526A probably benign Het
Zfp518a G T 19: 40,902,415 (GRCm39) Q781H probably damaging Het
Zmynd11 A G 13: 9,739,687 (GRCm39) V434A probably benign Het
Zranb1 A G 7: 132,585,508 (GRCm39) D652G 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
R0591:Dglucy UTSW 12 100,825,777 (GRCm39) splice site probably benign
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
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'- ACCAGTCTTGTGGCTAAGAGAG -3'
(R):5'- CAAGTTCAAGGCTCTCTGGTC -3'

Sequencing Primer
(F):5'- CTTGTGGCTAAGAGAGGGGTG -3'
(R):5'- TTCCCCAGAGCCTGTAGGAAG -3'
Posted On 2020-07-13