Incidental Mutation 'IGL03209:Fgd3'
ID413229
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 #IGL03209
Quality Score
Status
Chromosome13
Chromosomal Location49261554-49320311 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 49285818 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 234 (Q234R)
Ref Sequence ENSEMBL: ENSMUSP00000105714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048716] [ENSMUST00000110086] [ENSMUST00000110087]
Predicted Effect probably damaging
Transcript: ENSMUST00000048716
AA Change: Q234R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048692
Gene: ENSMUSG00000037946
AA Change: Q234R

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 possibly damaging
Transcript: ENSMUST00000110086
AA Change: Q234R

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105713
Gene: ENSMUSG00000037946
AA Change: Q234R

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: Q234R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105714
Gene: ENSMUSG00000037946
AA Change: Q234R

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 C T 2: 26,992,961 A841V probably benign Het
Alms1 A G 6: 85,599,973 probably benign Het
Arc A T 15: 74,671,984 L130Q probably damaging Het
Arhgap28 C T 17: 67,868,956 V383I probably damaging Het
Atf6 T C 1: 170,834,894 S266G probably benign Het
Cd59b A G 2: 104,084,560 E101G probably benign Het
Cdc26 T C 4: 62,395,014 K30R possibly damaging Het
Clns1a A G 7: 97,711,730 D103G probably null Het
Crispld2 C A 8: 120,031,098 A394E possibly damaging Het
Cyp51 A T 5: 4,104,195 L38H probably damaging Het
Dnah7a T G 1: 53,686,614 probably benign Het
Fbxw2 T C 2: 34,822,663 R129G probably damaging Het
Gdpgp1 A G 7: 80,239,099 T293A probably damaging Het
Gm4951 T A 18: 60,246,071 I226N probably damaging Het
Hspa12a T G 19: 58,822,061 probably null Het
Ier5l G T 2: 30,473,055 D319E possibly damaging Het
Ikzf1 T C 11: 11,700,226 V3A probably benign Het
Itga2 T C 13: 114,880,632 N180D probably damaging Het
Lipt1 T C 1: 37,875,069 S69P probably damaging Het
Lvrn A G 18: 46,889,498 I734V probably benign Het
Man2c1 A G 9: 57,141,830 T871A probably benign Het
Ndufs1 A T 1: 63,164,737 C129S probably damaging Het
Neb A T 2: 52,290,819 F1232I probably damaging Het
Ngly1 T A 14: 16,281,831 Y362* probably null Het
Olfr92 A T 17: 37,111,521 S154T probably benign Het
Olfr993 A T 2: 85,414,379 S167T probably benign Het
Patj A G 4: 98,465,140 D640G probably null Het
Plxnd1 A T 6: 115,962,357 M1502K probably damaging Het
Sccpdh T C 1: 179,686,673 V429A possibly damaging Het
Slc25a48 T C 13: 56,470,459 V303A probably benign Het
Sult2a6 T C 7: 14,225,972 D212G probably benign Het
Tep1 A T 14: 50,840,703 probably benign Het
Tmem65 A G 15: 58,784,902 probably benign Het
Togaram2 T C 17: 71,695,745 probably null Het
Trim36 T C 18: 46,167,508 T687A probably benign Het
Unc13b T A 4: 43,239,351 D3471E probably damaging Het
Urgcp T C 11: 5,717,238 probably null Het
Zfhx4 A T 3: 5,401,171 I2155F probably damaging Het
Zfp831 T A 2: 174,645,266 V578E probably benign 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
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
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 On2016-08-02