Incidental Mutation 'IGL01797:Fgd3'
ID155401
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 #IGL01797
Quality Score
Status
Chromosome13
Chromosomal Location49261554-49320311 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 49289589 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 169 (V169E)
Ref Sequence ENSEMBL: ENSMUSP00000105713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048716] [ENSMUST00000110086] [ENSMUST00000110087]
Predicted Effect probably damaging
Transcript: ENSMUST00000048716
AA Change: V169E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048692
Gene: ENSMUSG00000037946
AA Change: V169E

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: V169E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105713
Gene: ENSMUSG00000037946
AA Change: V169E

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: V169E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105714
Gene: ENSMUSG00000037946
AA Change: V169E

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700023F06Rik T C 11: 103,198,968 Y381C probably damaging Het
Abca16 T C 7: 120,514,537 V877A probably benign Het
AC159899.1 T C 9: 99,234,389 K83E probably damaging Het
Clcn2 T C 16: 20,712,761 I178V probably damaging Het
Cnbp A G 6: 87,845,560 probably benign Het
Coq8a A T 1: 180,169,719 probably null Het
Dctn2 A G 10: 127,277,313 D244G possibly damaging Het
Dync1h1 T A 12: 110,652,196 probably null Het
Fdx1 A T 9: 51,943,625 C159* probably null Het
Gm13212 T A 4: 145,620,671 N48K probably damaging Het
Ice1 G T 13: 70,623,946 T51K probably damaging Het
Iqca A C 1: 90,144,819 probably null Het
Jup C A 11: 100,381,672 probably benign Het
Krt84 A G 15: 101,528,480 V373A possibly damaging Het
Ndst4 T A 3: 125,683,153 M9K probably damaging Het
Nomo1 T C 7: 46,056,662 V480A probably damaging Het
Nsun5 A G 5: 135,375,371 H344R probably damaging Het
Olfr397 A T 11: 73,964,818 D70V probably damaging Het
Olfr532 A G 7: 140,419,018 Y252H probably damaging Het
Pjvk T C 2: 76,657,539 probably benign Het
Prkaa1 G A 15: 5,168,706 D159N probably damaging Het
Sap130 T A 18: 31,698,668 I736N probably damaging Het
Tlcd1 A G 11: 78,180,334 probably null Het
Tpp1 T C 7: 105,749,252 I286V probably benign Het
Ttll5 T A 12: 85,956,597 I1069K possibly damaging Het
Ttn T G 2: 76,709,913 E34243A possibly damaging Het
Uqcr10 A C 11: 4,704,179 I43S possibly damaging Het
Ush2a T A 1: 188,263,509 M159K probably damaging Het
Vmn2r121 G A X: 124,131,351 probably benign Het
Vmn2r30 T A 7: 7,334,196 D147V probably benign Het
Xntrpc T C 7: 102,090,546 I559T possibly damaging 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
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 On2014-02-04