Incidental Mutation 'IGL02367:Fgd3'
ID290779
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 #IGL02367
Quality Score
Status
Chromosome13
Chromosomal Location49261554-49320311 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 49287326 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 210 (F210L)
Ref Sequence ENSEMBL: ENSMUSP00000105714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048716] [ENSMUST00000110086] [ENSMUST00000110087]
Predicted Effect probably damaging
Transcript: ENSMUST00000048716
AA Change: F210L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048692
Gene: ENSMUSG00000037946
AA Change: F210L

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 damaging
Transcript: ENSMUST00000110086
AA Change: F210L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105713
Gene: ENSMUSG00000037946
AA Change: F210L

DomainStartEndE-ValueType
low complexity region 87 98 N/A INTRINSIC
RhoGEF 157 336 1.41e-58 SMART
PH 367 467 3.01e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110087
AA Change: F210L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105714
Gene: ENSMUSG00000037946
AA Change: F210L

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T C 15: 82,065,547 L1215P probably benign Het
Angptl7 T C 4: 148,500,144 N49S possibly damaging Het
Asns A G 6: 7,685,411 probably benign Het
Atr T A 9: 95,899,141 Y1419* probably null Het
Bptf A T 11: 107,073,352 I1672N probably benign Het
Chd1 A G 17: 17,390,053 T490A probably damaging Het
Cyfip2 A T 11: 46,276,905 C223* probably null Het
Ddr1 G A 17: 35,683,480 A801V probably damaging Het
Dnah12 T C 14: 26,709,161 V308A probably benign Het
Dync2h1 A G 9: 7,158,926 V703A probably damaging Het
Gm10020 T C 15: 52,477,972 noncoding transcript Het
Gm6526 T G 14: 43,750,805 V171G probably damaging Het
Grin3a A G 4: 49,702,805 Y894H probably damaging Het
Grm3 C A 5: 9,511,660 C730F probably damaging Het
Habp4 C A 13: 64,174,091 P181T probably damaging Het
Hdac4 A G 1: 91,958,449 probably benign Het
Ints5 A G 19: 8,895,595 D306G probably benign Het
Mb21d1 G A 9: 78,434,385 T370I probably benign Het
Mid2 T A X: 140,736,496 I273N probably damaging Het
Ndufs2 A T 1: 171,239,365 Y114* probably null Het
Neu4 G T 1: 94,024,491 R194L probably damaging Het
Ntng1 A T 3: 110,135,513 probably null Het
Nub1 A G 5: 24,689,394 M1V probably null Het
Olfml2a A G 2: 38,954,668 T379A probably benign Het
Olfr311 A T 11: 58,841,512 I133F probably benign Het
Pex3 G T 10: 13,524,899 Q303K probably benign Het
Pmp2 A T 3: 10,182,500 I43N probably damaging Het
Pnliprp1 T A 19: 58,738,169 D319E probably benign Het
Rap1gap2 A T 11: 74,397,355 probably null Het
Rwdd3 A G 3: 121,159,030 V104A probably damaging Het
Sbf1 A T 15: 89,307,572 V157E probably damaging Het
Slc4a11 T A 2: 130,684,959 I750F probably damaging Het
Tcea1 G A 1: 4,878,133 probably null Het
Ush2a A T 1: 188,784,746 M3218L probably benign Het
Utp20 G A 10: 88,771,853 probably benign Het
Zfp493 T A 13: 67,786,970 Y347* probably null Het
Zswim6 T C 13: 107,744,102 noncoding transcript Het
Other mutations in Fgd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Fgd3 APN 13 49275643 splice site probably benign
IGL00816:Fgd3 APN 13 49264786 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
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 On2015-04-16