Incidental Mutation 'IGL03258:Fgd6'
ID 414721
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgd6
Ensembl Gene ENSMUSG00000020021
Gene Name FYVE, RhoGEF and PH domain containing 6
Synonyms Etohd4, ZFYVE24
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.413) question?
Stock # IGL03258
Quality Score
Status
Chromosome 10
Chromosomal Location 93871863-93981201 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 93969215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 1161 (T1161S)
Ref Sequence ENSEMBL: ENSMUSP00000020208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020208]
AlphaFold Q69ZL1
PDB Structure Solution Structure of the Pleckstrin Homology Domain of Mouse Ethanol Decreased 4 Protein [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000020208
AA Change: T1161S

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000020208
Gene: ENSMUSG00000020021
AA Change: T1161S

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 24 34 N/A INTRINSIC
low complexity region 45 60 N/A INTRINSIC
low complexity region 75 88 N/A INTRINSIC
low complexity region 150 161 N/A INTRINSIC
low complexity region 403 418 N/A INTRINSIC
low complexity region 803 821 N/A INTRINSIC
RhoGEF 845 1029 3.09e-46 SMART
PH 1060 1155 6.25e-15 SMART
FYVE 1183 1251 6.93e-28 SMART
low complexity region 1268 1282 N/A INTRINSIC
PH 1303 1398 1.54e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125535
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,931,210 (GRCm39) probably benign Het
Adam1b A G 5: 121,639,447 (GRCm39) S533P possibly damaging Het
Akr1c6 G T 13: 4,486,408 (GRCm39) G72C probably damaging Het
Carf C T 1: 60,148,388 (GRCm39) T28I possibly damaging Het
Cog1 G A 11: 113,545,919 (GRCm39) W398* probably null Het
Dmpk A G 7: 18,826,131 (GRCm39) probably null Het
Dmxl1 T C 18: 50,053,960 (GRCm39) V2534A probably damaging Het
Fam78b A T 1: 166,906,323 (GRCm39) T161S probably damaging Het
Gpr158 A T 2: 21,830,085 (GRCm39) D710V probably damaging Het
H2-Q4 A G 17: 35,599,095 (GRCm39) I122V probably benign Het
Ifi211 A T 1: 173,733,098 (GRCm39) C188S probably benign Het
Lamc3 A C 2: 31,777,695 (GRCm39) S114R probably damaging Het
Lrrc57 C T 2: 120,435,703 (GRCm39) A239T probably damaging Het
Mdga1 A G 17: 30,058,887 (GRCm39) Y707H probably damaging Het
Ms4a6b T G 19: 11,499,072 (GRCm39) L62R probably damaging Het
Mtmr4 A T 11: 87,502,829 (GRCm39) H961L possibly damaging Het
Myrip A G 9: 120,270,418 (GRCm39) N556S probably benign Het
Osgep T C 14: 51,155,346 (GRCm39) T71A possibly damaging Het
Plin4 T C 17: 56,411,371 (GRCm39) T887A probably benign Het
Pwwp2a T A 11: 43,595,392 (GRCm39) F186I probably benign Het
Serpina1b G T 12: 103,696,655 (GRCm39) S251R probably benign Het
Setd7 T C 3: 51,467,936 (GRCm39) probably null Het
Slc24a5 G T 2: 124,922,625 (GRCm39) probably null Het
Slc25a17 A G 15: 81,213,243 (GRCm39) probably benign Het
Slc5a4a T C 10: 75,986,386 (GRCm39) V98A possibly damaging Het
Susd1 A T 4: 59,379,655 (GRCm39) I324N possibly damaging Het
Tcaf3 A G 6: 42,566,773 (GRCm39) L772P probably damaging Het
Other mutations in Fgd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00764:Fgd6 APN 10 93,879,496 (GRCm39) missense probably benign 0.01
IGL00975:Fgd6 APN 10 93,969,938 (GRCm39) missense probably damaging 0.98
IGL01366:Fgd6 APN 10 93,879,338 (GRCm39) missense possibly damaging 0.71
IGL01940:Fgd6 APN 10 93,925,512 (GRCm39) splice site probably null
IGL01958:Fgd6 APN 10 93,974,170 (GRCm39) missense probably benign 0.25
IGL01988:Fgd6 APN 10 93,910,197 (GRCm39) splice site probably benign
IGL02019:Fgd6 APN 10 93,969,216 (GRCm39) missense probably damaging 1.00
IGL02074:Fgd6 APN 10 93,963,297 (GRCm39) missense probably damaging 1.00
IGL02227:Fgd6 APN 10 93,969,946 (GRCm39) missense probably damaging 1.00
IGL02262:Fgd6 APN 10 93,961,490 (GRCm39) missense probably damaging 0.98
IGL02353:Fgd6 APN 10 93,974,258 (GRCm39) missense possibly damaging 0.82
IGL02360:Fgd6 APN 10 93,974,258 (GRCm39) missense possibly damaging 0.82
IGL02425:Fgd6 APN 10 93,910,064 (GRCm39) missense probably benign 0.00
IGL02526:Fgd6 APN 10 93,936,373 (GRCm39) missense probably benign 0.21
IGL02607:Fgd6 APN 10 93,880,310 (GRCm39) missense possibly damaging 0.94
IGL02741:Fgd6 APN 10 93,959,152 (GRCm39) missense possibly damaging 0.65
IGL02870:Fgd6 APN 10 93,881,026 (GRCm39) missense probably damaging 1.00
IGL02884:Fgd6 APN 10 93,881,501 (GRCm39) splice site probably benign
IGL02995:Fgd6 APN 10 93,881,342 (GRCm39) nonsense probably null
IGL03189:Fgd6 APN 10 93,880,318 (GRCm39) missense probably benign 0.26
IGL03396:Fgd6 APN 10 93,880,318 (GRCm39) missense probably benign 0.26
FR4449:Fgd6 UTSW 10 93,880,182 (GRCm39) small deletion probably benign
R0257:Fgd6 UTSW 10 93,879,777 (GRCm39) missense probably benign 0.11
R0926:Fgd6 UTSW 10 93,970,909 (GRCm39) missense probably benign 0.40
R1325:Fgd6 UTSW 10 93,963,289 (GRCm39) missense probably damaging 1.00
R1422:Fgd6 UTSW 10 93,881,234 (GRCm39) missense probably damaging 1.00
R1491:Fgd6 UTSW 10 93,880,694 (GRCm39) missense probably benign 0.06
R1593:Fgd6 UTSW 10 93,880,894 (GRCm39) missense probably damaging 1.00
R1624:Fgd6 UTSW 10 93,973,298 (GRCm39) missense probably benign 0.19
R1929:Fgd6 UTSW 10 93,880,868 (GRCm39) missense probably benign 0.01
R2064:Fgd6 UTSW 10 93,880,903 (GRCm39) missense probably damaging 0.98
R2965:Fgd6 UTSW 10 93,880,056 (GRCm39) missense probably benign 0.03
R2966:Fgd6 UTSW 10 93,880,056 (GRCm39) missense probably benign 0.03
R3889:Fgd6 UTSW 10 93,925,499 (GRCm39) missense probably damaging 1.00
R4094:Fgd6 UTSW 10 93,879,296 (GRCm39) missense probably damaging 1.00
R4605:Fgd6 UTSW 10 93,880,217 (GRCm39) missense probably benign 0.12
R4883:Fgd6 UTSW 10 93,975,715 (GRCm39) missense probably benign 0.00
R5217:Fgd6 UTSW 10 93,969,939 (GRCm39) missense possibly damaging 0.90
R5473:Fgd6 UTSW 10 93,880,538 (GRCm39) missense probably benign 0.00
R5606:Fgd6 UTSW 10 93,974,190 (GRCm39) nonsense probably null
R5644:Fgd6 UTSW 10 93,969,912 (GRCm39) missense possibly damaging 0.80
R6051:Fgd6 UTSW 10 93,973,427 (GRCm39) critical splice donor site probably null
R6258:Fgd6 UTSW 10 93,880,161 (GRCm39) missense probably benign 0.00
R6735:Fgd6 UTSW 10 93,910,182 (GRCm39) missense possibly damaging 0.94
R7181:Fgd6 UTSW 10 93,879,373 (GRCm39) missense probably benign 0.02
R7210:Fgd6 UTSW 10 93,969,954 (GRCm39) missense probably damaging 0.98
R7296:Fgd6 UTSW 10 93,975,743 (GRCm39) missense probably benign 0.02
R7296:Fgd6 UTSW 10 93,879,909 (GRCm39) nonsense probably null
R7697:Fgd6 UTSW 10 93,881,306 (GRCm39) missense probably damaging 0.99
R7747:Fgd6 UTSW 10 93,880,778 (GRCm39) missense probably damaging 1.00
R7861:Fgd6 UTSW 10 93,939,193 (GRCm39) missense probably benign 0.15
R7940:Fgd6 UTSW 10 93,956,344 (GRCm39) missense probably benign 0.02
R8022:Fgd6 UTSW 10 93,880,206 (GRCm39) missense possibly damaging 0.54
R8138:Fgd6 UTSW 10 93,970,005 (GRCm39) missense probably null 0.45
R8171:Fgd6 UTSW 10 93,910,194 (GRCm39) critical splice donor site probably null
R8189:Fgd6 UTSW 10 93,910,077 (GRCm39) missense probably benign 0.00
R8213:Fgd6 UTSW 10 93,879,914 (GRCm39) missense probably benign 0.37
R8960:Fgd6 UTSW 10 93,880,868 (GRCm39) missense probably benign 0.06
R8981:Fgd6 UTSW 10 93,880,916 (GRCm39) missense possibly damaging 0.80
R8989:Fgd6 UTSW 10 93,959,425 (GRCm39) missense probably damaging 0.97
R9609:Fgd6 UTSW 10 93,879,674 (GRCm39) missense probably damaging 0.99
RF031:Fgd6 UTSW 10 93,880,187 (GRCm39) frame shift probably null
RF040:Fgd6 UTSW 10 93,880,187 (GRCm39) frame shift probably null
Posted On 2016-08-02