Incidental Mutation 'IGL03063:Gadl1'
ID409552
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gadl1
Ensembl Gene ENSMUSG00000056880
Gene Nameglutamate decarboxylase-like 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.107) question?
Stock #IGL03063
Quality Score
Status
Chromosome9
Chromosomal Location115909455-116076176 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 115966267 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 313 (H313Y)
Ref Sequence ENSEMBL: ENSMUSP00000113240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069651] [ENSMUST00000119291] [ENSMUST00000121770]
Predicted Effect probably damaging
Transcript: ENSMUST00000069651
AA Change: H313Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077694
Gene: ENSMUSG00000056880
AA Change: H313Y

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 58 426 1.1e-113 PFAM
Pfam:Beta_elim_lyase 137 467 1e-7 PFAM
Pfam:Aminotran_5 167 333 1.6e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119291
AA Change: H313Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112433
Gene: ENSMUSG00000056880
AA Change: H313Y

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 58 426 3.2e-112 PFAM
Pfam:Beta_elim_lyase 137 446 1.6e-6 PFAM
Pfam:Aminotran_5 184 330 3.3e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121770
AA Change: H313Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113240
Gene: ENSMUSG00000056880
AA Change: H313Y

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 58 426 2.8e-112 PFAM
Pfam:Beta_elim_lyase 137 461 6.2e-8 PFAM
Pfam:Aminotran_5 184 330 4.1e-7 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 C T 7: 46,016,432 V255I probably benign Het
Arfgef2 T C 2: 166,859,782 probably benign Het
Bpifb2 A T 2: 153,889,124 Q205L probably damaging Het
Ccdc30 C T 4: 119,349,767 R386Q possibly damaging Het
Cdk5rap2 T A 4: 70,354,877 probably null Het
Comtd1 A G 14: 21,847,667 probably null Het
Dao T C 5: 114,021,015 C261R probably damaging Het
Dner A G 1: 84,585,338 V187A possibly damaging Het
Dsg3 T C 18: 20,533,368 probably benign Het
Eif3j2 A G 18: 43,477,379 L123P possibly damaging Het
Esf1 G A 2: 140,154,786 probably benign Het
Exo5 G A 4: 120,921,633 T345I possibly damaging Het
Fancl A T 11: 26,387,299 I29F probably damaging Het
Gm17190 G A 13: 96,082,762 probably benign Het
Gtf3c1 G T 7: 125,646,503 T1580N possibly damaging Het
Gtf3c6 T A 10: 40,251,159 I66L probably benign Het
Hhla1 A G 15: 65,941,790 I231T probably damaging Het
Hk2 A G 6: 82,739,649 Y273H probably damaging Het
Hk2 A G 6: 82,749,232 I83T probably benign Het
Ifit1 T C 19: 34,648,004 V180A possibly damaging Het
Igkv9-129 A T 6: 67,840,188 D92V probably damaging Het
Lrrc1 A G 9: 77,499,269 F36S probably damaging Het
Man1b1 A G 2: 25,334,404 E102G possibly damaging Het
Myh8 A G 11: 67,288,205 S475G probably benign Het
Olfr593 T A 7: 103,212,634 V247D probably damaging Het
Otud4 T A 8: 79,663,790 M343K probably benign Het
Peg10 A T 6: 4,756,647 probably benign Het
Plet1 T A 9: 50,504,422 N197K probably benign Het
Ppp1r12a C T 10: 108,261,254 R243C probably damaging Het
Serpinb10 A T 1: 107,542,227 K146N possibly damaging Het
Sis A G 3: 72,928,297 F911L probably benign Het
Spon1 G A 7: 114,033,025 V528M possibly damaging Het
Tdrd9 T C 12: 112,044,299 V1100A probably benign Het
Tmtc3 T C 10: 100,447,606 M696V probably benign Het
Triobp A G 15: 78,990,884 E122G probably damaging Het
Wt1 G A 2: 105,170,023 probably null Het
Other mutations in Gadl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01069:Gadl1 APN 9 115954839 critical splice donor site probably null
IGL01343:Gadl1 APN 9 116074112 makesense probably null
IGL01693:Gadl1 APN 9 115949585 missense probably damaging 1.00
IGL02106:Gadl1 APN 9 115937157 utr 5 prime probably benign
IGL02740:Gadl1 APN 9 116006561 nonsense probably null
IGL03104:Gadl1 APN 9 116074040 missense possibly damaging 0.93
IGL03127:Gadl1 APN 9 115948664 missense probably damaging 1.00
R0133:Gadl1 UTSW 9 115941343 missense probably benign 0.00
R0285:Gadl1 UTSW 9 116030738 splice site probably benign
R0737:Gadl1 UTSW 9 116073987 missense probably damaging 0.99
R0771:Gadl1 UTSW 9 115944232 missense probably damaging 1.00
R1522:Gadl1 UTSW 9 115944229 missense probably damaging 1.00
R1716:Gadl1 UTSW 9 116006508 nonsense probably null
R2061:Gadl1 UTSW 9 115941380 missense probably damaging 1.00
R2163:Gadl1 UTSW 9 115949558 missense possibly damaging 0.93
R3854:Gadl1 UTSW 9 116006664 nonsense probably null
R3964:Gadl1 UTSW 9 115965608 missense probably damaging 0.98
R4654:Gadl1 UTSW 9 115941340 missense probably damaging 1.00
R4724:Gadl1 UTSW 9 115954617 missense possibly damaging 0.81
R4765:Gadl1 UTSW 9 115966313 missense probably null 0.00
R4956:Gadl1 UTSW 9 116040919 missense probably benign 0.00
R5179:Gadl1 UTSW 9 115960380 nonsense probably null
R5593:Gadl1 UTSW 9 116006650 missense probably damaging 1.00
R5620:Gadl1 UTSW 9 115937162 start codon destroyed probably benign 0.09
R6048:Gadl1 UTSW 9 116006701 splice site probably null
R6458:Gadl1 UTSW 9 116041002 makesense probably null
R7497:Gadl1 UTSW 9 116074087 missense probably benign 0.00
R7889:Gadl1 UTSW 9 115954815 missense possibly damaging 0.56
Z1088:Gadl1 UTSW 9 115937270 missense probably benign 0.00
Posted On2016-08-02