Incidental Mutation 'IGL01885:Dglucy'
ID179118
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dglucy
Ensembl Gene ENSMUSG00000021185
Gene NameD-glutamate cyclase
Synonyms9030617O03Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.215) question?
Stock #IGL01885
Quality Score
Status
Chromosome12
Chromosomal Location100779057-100896981 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 100850281 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 394 (F394Y)
Ref Sequence ENSEMBL: ENSMUSP00000105700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069782] [ENSMUST00000110069] [ENSMUST00000110070] [ENSMUST00000110073] [ENSMUST00000167322]
Predicted Effect possibly damaging
Transcript: ENSMUST00000069782
AA Change: F364Y

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000067830
Gene: ENSMUSG00000021185
AA Change: F364Y

DomainStartEndE-ValueType
Pfam:DUF1445 115 257 1.1e-51 PFAM
Pfam:DUF4392 298 612 4.2e-100 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110069
AA Change: F364Y

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105696
Gene: ENSMUSG00000021185
AA Change: F364Y

DomainStartEndE-ValueType
Pfam:DUF1445 115 257 1.1e-51 PFAM
Pfam:DUF4392 298 612 4.2e-100 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110070
AA Change: F364Y

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105697
Gene: ENSMUSG00000021185
AA Change: F364Y

DomainStartEndE-ValueType
Pfam:DUF1445 115 257 2.8e-51 PFAM
Pfam:DUF4392 298 563 2.5e-87 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110073
AA Change: F394Y

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105700
Gene: ENSMUSG00000021185
AA Change: F394Y

DomainStartEndE-ValueType
Pfam:DUF1445 145 287 7.2e-54 PFAM
Pfam:DUF4392 329 640 2.3e-124 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000167322
AA Change: F364Y

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129876
Gene: ENSMUSG00000021185
AA Change: F364Y

DomainStartEndE-ValueType
Pfam:DUF1445 115 257 1.1e-51 PFAM
Pfam:DUF4392 298 612 4.2e-100 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222484
Coding Region Coverage
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars T C 8: 111,047,943 V568A possibly damaging Het
Abcb11 T A 2: 69,287,627 Q469L probably damaging Het
Ahsg G A 16: 22,898,981 G264E probably damaging Het
Ankar T C 1: 72,658,703 Y788C probably damaging Het
Birc6 T A 17: 74,604,516 F1508I possibly damaging Het
Cd6 C A 19: 10,799,237 Q141H probably benign Het
Cercam A C 2: 29,881,003 T471P probably damaging Het
Cux1 T C 5: 136,308,447 D729G possibly damaging Het
E130308A19Rik A G 4: 59,720,004 N512S probably benign Het
Ephb4 T C 5: 137,357,797 C223R probably damaging Het
Gcn1l1 T A 5: 115,576,115 probably null Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Hirip3 T A 7: 126,864,209 S446T probably benign Het
Hoxa5 A T 6: 52,202,667 F243I probably damaging Het
Iars T C 13: 49,691,499 V162A probably benign Het
Lama2 G A 10: 27,105,139 R1840* probably null Het
Lbp T A 2: 158,324,573 L349Q probably damaging Het
Lrp4 T C 2: 91,501,107 I1604T probably benign Het
Mapk10 T C 5: 102,996,589 K121E probably damaging Het
Nav3 T A 10: 109,742,660 R1579* probably null Het
Obscn T C 11: 59,074,968 D652G possibly damaging Het
Olfr1472 G A 19: 13,454,085 T144I probably benign Het
Olfr417 A G 1: 174,369,401 I161M probably damaging Het
Olfr849 A G 9: 19,441,464 I184V probably benign Het
Ostm1 C T 10: 42,698,151 S280L possibly damaging Het
Peak1 C T 9: 56,260,104 R180K probably damaging Het
Plcz1 T C 6: 140,002,111 Y515C probably benign Het
Postn T C 3: 54,376,034 probably benign Het
Ptchd4 C T 17: 42,503,602 T798I probably damaging Het
Rnf41 A T 10: 128,435,475 N85Y probably damaging Het
Shisa7 A T 7: 4,830,826 H323Q probably damaging Het
Slco2a1 T A 9: 103,074,430 M386K probably damaging Het
St18 G A 1: 6,844,372 probably null Het
Stra6 T A 9: 58,141,148 L175M probably damaging Het
Tmem67 A G 4: 12,057,389 L600P probably damaging Het
Try5 G T 6: 41,311,738 N182K possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Xpo7 G A 14: 70,666,035 T1078I probably benign Het
Zan G A 5: 137,464,124 T931I unknown Het
Other mutations in Dglucy
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01483:Dglucy APN 12 100853217 missense probably damaging 1.00
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
R3946:Dglucy UTSW 12 100838700 critical splice donor site probably null
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
Posted On2014-05-07