Incidental Mutation 'IGL01993:Fgd3'
ID182075
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 #IGL01993
Quality Score
Status
Chromosome13
Chromosomal Location49261554-49320311 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 49280188 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 345 (H345R)
Ref Sequence ENSEMBL: ENSMUSP00000105714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048716] [ENSMUST00000110086] [ENSMUST00000110087]
Predicted Effect possibly damaging
Transcript: ENSMUST00000048716
AA Change: H345R

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000048692
Gene: ENSMUSG00000037946
AA Change: H345R

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: ENSMUST00000110086
AA Change: H345R

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000105713
Gene: ENSMUSG00000037946
AA Change: H345R

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 possibly damaging
Transcript: ENSMUST00000110087
AA Change: H345R

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105714
Gene: ENSMUSG00000037946
AA Change: H345R

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C A 11: 9,258,452 probably benign Het
Acnat2 A T 4: 49,380,131 S398T probably benign Het
Adgrb2 G T 4: 130,018,842 E1296D possibly damaging Het
Adh4 C T 3: 138,429,027 probably benign Het
Anapc2 C A 2: 25,274,713 D322E probably benign Het
Apobec1 A G 6: 122,588,179 probably benign Het
Asic1 T C 15: 99,697,472 V393A probably benign Het
Cfap65 A C 1: 74,920,543 F816C probably damaging Het
Cfap69 A C 5: 5,581,284 L914R probably damaging Het
Cspg4 C T 9: 56,898,478 T2191I probably benign Het
Cyp11a1 T A 9: 58,020,823 I210N probably damaging Het
Dgkb T A 12: 37,982,010 Y24N probably benign Het
Epc1 T C 18: 6,449,136 T504A possibly damaging Het
Fam135a A T 1: 24,055,911 D125E probably damaging Het
Fam192a G T 8: 94,575,752 A217D possibly damaging Het
Gm11492 G T 11: 87,567,729 G310W possibly damaging Het
Gm12253 T C 11: 58,434,553 V17A probably damaging Het
Hars C T 18: 36,770,212 G355D probably damaging Het
Hpgd A T 8: 56,319,062 I190F probably benign Het
Ighv1-34 A T 12: 114,851,383 M53K probably benign Het
Ildr2 A T 1: 166,269,370 T53S possibly damaging Het
Ints5 T A 19: 8,895,465 C263S probably benign Het
Lars2 T C 9: 123,394,943 probably benign Het
Ldha G A 7: 46,855,100 A349T possibly damaging Het
Map3k2 T A 18: 32,226,631 C512* probably null Het
Mb21d1 A G 9: 78,442,520 S187P probably benign Het
Parp4 G A 14: 56,610,788 R687Q possibly damaging Het
Plk2 T C 13: 110,399,197 S518P probably damaging Het
Prrc2b T G 2: 32,224,045 V2036G possibly damaging Het
Psg16 T A 7: 17,093,706 S196T probably benign Het
Ranbp17 T C 11: 33,500,770 T56A possibly damaging Het
Retsat T C 6: 72,604,995 probably benign Het
Robo3 G T 9: 37,424,653 L484I probably damaging Het
Slc17a6 T C 7: 51,667,957 M446T possibly damaging Het
Slc38a1 G A 15: 96,624,046 T11M probably damaging Het
Tmem138 T C 19: 10,571,588 N106S probably benign Het
Traf1 G A 2: 34,946,867 probably benign Het
Tspan8 T C 10: 115,840,008 probably benign Het
Ubr5 T C 15: 37,973,012 E2615G probably damaging Het
Vwde A G 6: 13,219,978 I58T possibly damaging Het
Zc3h12c A G 9: 52,116,311 S603P probably damaging Het
Zfp746 A T 6: 48,082,158 S172R probably 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
IGL01797:Fgd3 APN 13 49289589 missense probably damaging 1.00
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 On2014-05-07