Incidental Mutation 'IGL00816:Fgd3'
ID13477
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgd3
Ensembl Gene ENSMUSG00000037946
Gene NameFYVE, RhoGEF and PH domain containing 3
SynonymsZFYVE5, 5830461L01Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.118) question?
Stock #IGL00816
Quality Score
Status
Chromosome13
Chromosomal Location49261554-49320311 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 49264786 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048716] [ENSMUST00000110087]
Predicted Effect probably benign
Transcript: ENSMUST00000048716
SMART Domains Protein: ENSMUSP00000048692
Gene: ENSMUSG00000037946

DomainStartEndE-ValueType
low complexity region 87 98 N/A INTRINSIC
RhoGEF 157 336 1.41e-58 SMART
PH 367 467 3.01e-17 SMART
FYVE 520 585 1.78e-7 SMART
PH 613 713 2.81e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110087
SMART Domains Protein: ENSMUSP00000105714
Gene: ENSMUSG00000037946

DomainStartEndE-ValueType
low complexity region 87 98 N/A INTRINSIC
RhoGEF 157 336 1.41e-58 SMART
PH 367 467 3.01e-17 SMART
FYVE 520 585 1.78e-7 SMART
PH 613 713 2.81e-8 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,397,203 D5654E probably benign Het
Alg6 A G 4: 99,742,361 S146G probably null Het
Anks1 T C 17: 28,059,393 probably null Het
Bcor T C X: 12,037,820 I1662V probably damaging Het
Bzw1 T C 1: 58,399,054 F98L probably damaging Het
Cdc14b A G 13: 64,205,403 V453A probably benign Het
Copg1 G T 6: 87,893,898 A228S possibly damaging Het
D1Pas1 A G 1: 186,969,412 I513V possibly damaging Het
Efemp1 G A 11: 28,926,223 V463M probably benign Het
Ep400 T A 5: 110,735,490 probably benign Het
Faim G A 9: 98,992,165 G15R probably damaging Het
Furin C A 7: 80,392,567 G427W probably damaging Het
Glycam1 T G 15: 103,564,232 D25A probably damaging Het
Gpr119 A G X: 48,674,170 L30P probably damaging Het
Gria1 T A 11: 57,317,742 M752K possibly damaging Het
Mcph1 C T 8: 18,632,397 P517S possibly damaging Het
Mug1 T A 6: 121,882,638 Y1199N probably damaging Het
Myt1 A G 2: 181,807,515 D663G probably damaging Het
Ppp1r1c A T 2: 79,709,897 probably null Het
Rab1a C T 11: 20,224,727 T100M possibly damaging Het
Rfx6 A G 10: 51,678,405 K114R probably benign Het
Rmdn1 T C 4: 19,595,119 V177A probably benign Het
Setd5 T G 6: 113,111,414 L168V probably damaging Het
Slc25a10 A T 11: 120,495,150 probably benign Het
Slc38a7 A T 8: 95,844,120 I252N probably damaging Het
Slit2 G A 5: 47,989,151 E95K possibly damaging Het
Taar8c A T 10: 24,101,275 I213N probably damaging Het
Tagln3 A T 16: 45,724,193 C38* probably null Het
Tmcc2 C A 1: 132,380,698 A153S probably benign Het
Tuft1 A T 3: 94,615,831 I291N probably damaging Het
Vmn2r10 T A 5: 109,002,585 M198L possibly damaging Het
Vps13d T A 4: 145,155,994 M1004L probably benign Het
Wfdc3 T C 2: 164,743,025 probably benign Het
Wfikkn2 G A 11: 94,238,095 Q407* probably null Het
Zfp106 T C 2: 120,526,848 I1189V probably benign Het
Zic2 T A 14: 122,478,559 C364* probably null Het
Other mutations in Fgd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Fgd3 APN 13 49275643 splice site probably benign
IGL01797:Fgd3 APN 13 49289589 missense probably damaging 1.00
IGL01993:Fgd3 APN 13 49280188 missense possibly damaging 0.62
IGL02134:Fgd3 APN 13 49296749 missense possibly damaging 0.84
IGL02327:Fgd3 APN 13 49285798 missense probably damaging 1.00
IGL02367:Fgd3 APN 13 49287326 missense probably damaging 1.00
IGL02532:Fgd3 APN 13 49285761 missense probably damaging 1.00
IGL02830:Fgd3 APN 13 49264631 splice site probably benign
IGL02888:Fgd3 APN 13 49281816 critical splice donor site probably null
IGL03209:Fgd3 APN 13 49285818 missense probably damaging 1.00
R0016:Fgd3 UTSW 13 49296609 missense probably benign 0.10
R0016:Fgd3 UTSW 13 49296609 missense probably benign 0.10
R0064:Fgd3 UTSW 13 49296425 missense possibly damaging 0.73
R0064:Fgd3 UTSW 13 49296425 missense possibly damaging 0.73
R0285:Fgd3 UTSW 13 49263948 missense possibly damaging 0.89
R0526:Fgd3 UTSW 13 49296524 missense probably benign 0.00
R0617:Fgd3 UTSW 13 49264697 missense possibly damaging 0.80
R0648:Fgd3 UTSW 13 49296573 missense probably benign 0.23
R1529:Fgd3 UTSW 13 49266694 missense probably benign 0.19
R1577:Fgd3 UTSW 13 49281937 missense probably damaging 0.99
R1913:Fgd3 UTSW 13 49263848 missense possibly damaging 0.89
R2002:Fgd3 UTSW 13 49296455 missense probably benign 0.05
R4342:Fgd3 UTSW 13 49273709 critical splice donor site probably null
R4606:Fgd3 UTSW 13 49296560 missense probably damaging 1.00
R4810:Fgd3 UTSW 13 49289650 missense probably benign 0.01
R4885:Fgd3 UTSW 13 49263989 missense possibly damaging 0.66
R4962:Fgd3 UTSW 13 49266629 missense probably benign 0.03
R4974:Fgd3 UTSW 13 49278602 missense probably damaging 1.00
R5201:Fgd3 UTSW 13 49296378 missense probably benign 0.00
R5524:Fgd3 UTSW 13 49277577 missense probably damaging 0.97
R5588:Fgd3 UTSW 13 49287310 missense probably damaging 1.00
R5710:Fgd3 UTSW 13 49296729 missense probably benign 0.00
R5753:Fgd3 UTSW 13 49274940 missense possibly damaging 0.94
R6048:Fgd3 UTSW 13 49273748 missense probably benign 0.01
R6086:Fgd3 UTSW 13 49287296 missense probably benign 0.12
R7293:Fgd3 UTSW 13 49264658 missense probably benign 0.00
R7311:Fgd3 UTSW 13 49296690 missense possibly damaging 0.94
R7383:Fgd3 UTSW 13 49268309 missense possibly damaging 0.50
R8205:Fgd3 UTSW 13 49296347 missense probably benign 0.11
Z1176:Fgd3 UTSW 13 49281826 missense probably damaging 1.00
Posted On2012-12-06