Incidental Mutation 'R3946:Dglucy'
ID307722
Institutional Source Beutler Lab
Gene Symbol Dglucy
Ensembl Gene ENSMUSG00000021185
Gene NameD-glutamate cyclase
Synonyms9030617O03Rik
MMRRC Submission 040827-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.152) question?
Stock #R3946 (G1)
Quality Score159
Status Validated
Chromosome12
Chromosomal Location100779057-100896981 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 100838700 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069782] [ENSMUST00000110069] [ENSMUST00000110069] [ENSMUST00000110070] [ENSMUST00000110073] [ENSMUST00000110073] [ENSMUST00000154603] [ENSMUST00000167322] [ENSMUST00000167322]
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: 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 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: 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 benign
Transcript: ENSMUST00000154603
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
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
Meta Mutation Damage Score 0.9489 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 98% (60/61)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaed1 T C 13: 64,309,098 I104V probably damaging Het
Abi2 A G 1: 60,453,754 Q328R probably damaging Het
Agr3 C A 12: 35,947,513 probably benign Het
Brca2 T A 5: 150,536,704 S481R probably damaging Het
Cabin1 T G 10: 75,745,259 Q411P probably damaging Het
Calr3 A G 8: 72,443,620 Y22H probably damaging Het
Caprin1 T A 2: 103,796,766 I59F probably damaging Het
Cdk5rap1 T C 2: 154,348,716 T442A probably damaging Het
Chn2 T C 6: 54,269,426 probably benign Het
Cic C A 7: 25,272,346 R501S possibly damaging Het
Coch A G 12: 51,601,812 probably null Het
Defa25 G A 8: 21,084,490 V17I probably null Het
Dtx1 T G 5: 120,681,286 T616P possibly damaging Het
Eef1g T C 19: 8,969,977 L171P probably benign Het
Fam135a A G 1: 24,030,394 S465P probably damaging Het
Gm14025 A G 2: 129,039,601 L135P probably damaging Het
Gm14412 A T 2: 177,314,685 C472* probably null Het
Gm7104 T C 12: 88,286,042 noncoding transcript Het
Got2 A G 8: 95,888,230 S26P probably benign Het
H2-M11 A G 17: 36,549,231 I329M probably damaging Het
Hmcn2 T A 2: 31,382,394 D1295E possibly damaging Het
Hoxd12 G T 2: 74,675,427 R114L probably damaging Het
Ilkap A C 1: 91,387,250 D124E probably damaging Het
Med6 T C 12: 81,581,851 Y88C probably damaging Het
Mep1a A T 17: 43,475,041 L719* probably null Het
Mmp23 T C 4: 155,652,023 Y187C probably damaging Het
Myo1g A G 11: 6,520,760 M32T possibly damaging Het
Ncstn T C 1: 172,067,494 E614G probably benign Het
Nr2c2 C T 6: 92,163,138 R464W probably damaging Het
Olfr1309 G A 2: 111,983,297 T259M possibly damaging Het
Otub2 T A 12: 103,392,826 L58* probably null Het
Pcdhga12 G A 18: 37,767,629 V505I probably benign Het
Pcdhga9 T A 18: 37,737,844 V242D probably damaging Het
Pex1 C T 5: 3,626,084 L891F probably damaging Het
Pgm1 C T 5: 64,112,061 T497I probably benign Het
Pikfyve T C 1: 65,196,681 F171L probably damaging Het
Pilrb1 T G 5: 137,857,392 K79T probably benign Het
Pin1 C T 9: 20,655,364 R21W probably damaging Het
Ptprq A G 10: 107,686,392 probably benign Het
Rad17 G A 13: 100,622,863 A552V possibly damaging Het
Rbbp8 A G 18: 11,718,868 T249A probably benign Het
Rtkn A T 6: 83,135,976 I10F probably benign Het
Scube2 T A 7: 109,857,590 I103F possibly damaging Het
Sec23b A G 2: 144,581,973 H514R probably benign Het
Serbp1 T A 6: 67,272,220 D223E probably benign Het
Slc14a1 C A 18: 78,111,392 V260L probably benign Het
Slc22a23 A G 13: 34,183,126 I633T probably damaging Het
Stk19 A T 17: 34,824,747 probably benign Het
Svs2 T C 2: 164,237,127 M287V probably benign Het
Syne3 T A 12: 104,958,066 Q358L probably damaging Het
Synj1 A G 16: 91,010,096 F58L possibly damaging Het
Tg T C 15: 66,674,023 V198A probably damaging Het
Tle4 A T 19: 14,597,388 Y9N probably damaging Het
Tmem57 A G 4: 134,804,481 Y626H probably damaging Het
Tmx3 G A 18: 90,524,335 A186T possibly damaging Het
Traf3 G A 12: 111,255,245 S280N possibly damaging Het
Trmt13 A G 3: 116,581,518 F447S probably damaging Het
Trp53bp1 T A 2: 121,228,626 H918L probably damaging Het
Ush2a T G 1: 188,728,504 V2654G probably benign Het
Vmn2r25 A G 6: 123,840,098 Y175H probably damaging Het
Zfp335 T C 2: 164,892,189 D1330G probably damaging Het
Other mutations in Dglucy
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01483:Dglucy APN 12 100853217 missense probably damaging 1.00
IGL01885:Dglucy APN 12 100850281 missense probably damaging 0.97
IGL01911:Dglucy APN 12 100838525 missense probably damaging 0.96
IGL02240:Dglucy APN 12 100871413 missense possibly damaging 0.51
IGL02388:Dglucy APN 12 100856998 missense probably damaging 1.00
IGL02653:Dglucy APN 12 100871431 missense probably benign
IGL02829:Dglucy APN 12 100871404 missense probably damaging 1.00
R0096:Dglucy UTSW 12 100838651 missense possibly damaging 0.94
R0096:Dglucy UTSW 12 100838651 missense possibly damaging 0.94
R0591:Dglucy UTSW 12 100859518 splice site probably benign
R1723:Dglucy UTSW 12 100842679 missense probably damaging 1.00
R1765:Dglucy UTSW 12 100850102 splice site probably null
R1926:Dglucy UTSW 12 100867155 missense possibly damaging 0.94
R1968:Dglucy UTSW 12 100859644 missense possibly damaging 0.95
R2004:Dglucy UTSW 12 100856922 missense probably damaging 1.00
R3117:Dglucy UTSW 12 100838678 missense probably benign
R3716:Dglucy UTSW 12 100850116 missense probably damaging 0.97
R3976:Dglucy UTSW 12 100841389 missense probably benign 0.01
R4782:Dglucy UTSW 12 100850343 missense probably benign 0.00
R4784:Dglucy UTSW 12 100838664 missense probably damaging 0.99
R4799:Dglucy UTSW 12 100850343 missense probably benign 0.00
R5037:Dglucy UTSW 12 100835241 missense probably benign 0.09
R5468:Dglucy UTSW 12 100850335 missense probably benign 0.01
R5609:Dglucy UTSW 12 100787646 missense probably null
R5994:Dglucy UTSW 12 100842700 missense probably benign 0.00
R6452:Dglucy UTSW 12 100835209 missense possibly damaging 0.93
R7257:Dglucy UTSW 12 100842738 missense probably damaging 1.00
R7488:Dglucy UTSW 12 100857051 missense possibly damaging 0.95
R7580:Dglucy UTSW 12 100850164 missense probably benign 0.29
R7589:Dglucy UTSW 12 100841401 missense probably damaging 1.00
X0025:Dglucy UTSW 12 100838664 missense possibly damaging 0.84
X0061:Dglucy UTSW 12 100838598 missense probably benign 0.04
Z1176:Dglucy UTSW 12 100853304 missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- GACCATCTGTCCACAGTTGC -3'
(R):5'- ACTTTGATTGACATTGCACAGCC -3'

Sequencing Primer
(F):5'- GTTGCAGAAATACAAGTTTGGCACC -3'
(R):5'- TTGCACAGCCATATCAGAGG -3'
Posted On2015-04-17