Incidental Mutation 'IGL02019:Fgd6'
ID 183894
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 # IGL02019
Quality Score
Status
Chromosome 10
Chromosomal Location 93871863-93981201 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 93969216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 1161 (T1161K)
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 damaging
Transcript: ENSMUST00000020208
AA Change: T1161K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000020208
Gene: ENSMUSG00000020021
AA Change: T1161K

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik C T 5: 115,017,645 (GRCm39) A178V possibly damaging Het
Acad11 A G 9: 103,992,544 (GRCm39) I495M probably damaging Het
Adgrd1 T C 5: 129,192,202 (GRCm39) S91P probably benign Het
Agk A G 6: 40,353,160 (GRCm39) I175V probably damaging Het
Ascc3 A T 10: 50,566,235 (GRCm39) N727Y probably damaging Het
Atrnl1 A T 19: 57,680,195 (GRCm39) probably benign Het
B4galt3 G A 1: 171,099,362 (GRCm39) G42D probably damaging Het
Brd10 A T 19: 29,694,463 (GRCm39) S976T probably benign Het
Brip1 C T 11: 86,088,775 (GRCm39) C42Y possibly damaging Het
Camkk1 T C 11: 72,928,027 (GRCm39) F233L probably damaging Het
Cd300ld A T 11: 114,878,227 (GRCm39) M95K probably damaging Het
Cdv3 A G 9: 103,237,224 (GRCm39) probably benign Het
Cog3 G T 14: 75,968,044 (GRCm39) Q430K possibly damaging Het
D6Wsu163e G A 6: 126,932,184 (GRCm39) G308S probably damaging Het
Dnah2 A G 11: 69,365,111 (GRCm39) M1951T probably damaging Het
Elavl3 G A 9: 21,948,014 (GRCm39) T51I probably damaging Het
Eri2 A T 7: 119,385,303 (GRCm39) C399* probably null Het
Ezh2 A T 6: 47,528,835 (GRCm39) probably null Het
Gbf1 A T 19: 46,267,731 (GRCm39) H1193L possibly damaging Het
Gbp2b T A 3: 142,312,751 (GRCm39) F378Y possibly damaging Het
Hectd2 G A 19: 36,592,916 (GRCm39) V694M possibly damaging Het
Hook1 T A 4: 95,910,434 (GRCm39) S683T probably benign Het
Ifi202b G A 1: 173,802,550 (GRCm39) R95C possibly damaging Het
Kdm8 G T 7: 125,051,658 (GRCm39) V84L probably damaging Het
Kifc3 G A 8: 95,834,168 (GRCm39) probably benign Het
Krt26 C T 11: 99,224,471 (GRCm39) R349Q probably benign Het
Lrig1 G T 6: 94,593,410 (GRCm39) Q424K probably damaging Het
Lrriq1 A T 10: 103,014,661 (GRCm39) M1049K probably benign Het
Mcidas A G 13: 113,133,377 (GRCm39) N103D probably benign Het
Mdn1 T C 4: 32,749,948 (GRCm39) L4377S possibly damaging Het
Mrpl41 T C 2: 24,864,429 (GRCm39) D81G possibly damaging Het
Mug2 G A 6: 122,024,394 (GRCm39) V489I probably benign Het
P2rx5 G T 11: 73,058,803 (GRCm39) probably benign Het
Pfas A T 11: 68,884,289 (GRCm39) probably benign Het
Pknox2 A G 9: 36,834,929 (GRCm39) L180P probably damaging Het
Psmd5 C A 2: 34,744,286 (GRCm39) C412F probably benign Het
Rbks T A 5: 31,817,361 (GRCm39) D136V probably damaging Het
Rgl1 A G 1: 152,404,220 (GRCm39) probably benign Het
Scube3 A G 17: 28,386,658 (GRCm39) D721G probably damaging Het
Snrnp200 T A 2: 127,074,825 (GRCm39) V1466D possibly damaging Het
Stambp A T 6: 83,529,013 (GRCm39) L344Q probably damaging Het
Tctn1 A T 5: 122,396,912 (GRCm39) I157N probably damaging Het
Top2b T A 14: 16,409,965 (GRCm38) D877E probably benign Het
Vmn1r78 G A 7: 11,886,634 (GRCm39) G82S probably damaging Het
Vnn1 T C 10: 23,779,449 (GRCm39) F453L possibly damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I 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
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
IGL03258:Fgd6 APN 10 93,969,215 (GRCm39) missense probably benign 0.44
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 2014-05-07