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
Is this an essential gene? Possibly non essential (E-score: 0.437) question?
Stock # IGL02019
Quality Score
Status
Chromosome 10
Chromosomal Location 94036001-94145339 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 94133354 bp (GRCm38)
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: 114,879,584 A178V possibly damaging Het
9930021J03Rik A T 19: 29,717,063 S976T probably benign Het
Acad11 A G 9: 104,115,345 I495M probably damaging Het
Adgrd1 T C 5: 129,115,138 S91P probably benign Het
Agk A G 6: 40,376,226 I175V probably damaging Het
Ascc3 A T 10: 50,690,139 N727Y probably damaging Het
Atrnl1 A T 19: 57,691,763 probably benign Het
B4galt3 G A 1: 171,271,792 G42D probably damaging Het
Brip1 C T 11: 86,197,949 C42Y possibly damaging Het
Camkk1 T C 11: 73,037,201 F233L probably damaging Het
Cd300ld A T 11: 114,987,401 M95K probably damaging Het
Cdv3 A G 9: 103,360,025 probably benign Het
Cog3 G T 14: 75,730,604 Q430K possibly damaging Het
D6Wsu163e G A 6: 126,955,221 G308S probably damaging Het
Dnah2 A G 11: 69,474,285 M1951T probably damaging Het
Elavl3 G A 9: 22,036,718 T51I probably damaging Het
Eri2 A T 7: 119,786,080 C399* probably null Het
Ezh2 A T 6: 47,551,901 probably null Het
Gbf1 A T 19: 46,279,292 H1193L possibly damaging Het
Gbp2b T A 3: 142,606,990 F378Y possibly damaging Het
Hectd2 G A 19: 36,615,516 V694M possibly damaging Het
Hook1 T A 4: 96,022,197 S683T probably benign Het
Ifi202b G A 1: 173,974,984 R95C possibly damaging Het
Kdm8 G T 7: 125,452,486 V84L probably damaging Het
Kifc3 G A 8: 95,107,540 probably benign Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Lrig1 G T 6: 94,616,429 Q424K probably damaging Het
Lrriq1 A T 10: 103,178,800 M1049K probably benign Het
Mcidas A G 13: 112,996,843 N103D probably benign Het
Mdn1 T C 4: 32,749,948 L4377S possibly damaging Het
Mrpl41 T C 2: 24,974,417 D81G possibly damaging Het
Mug2 G A 6: 122,047,435 V489I probably benign Het
P2rx5 G T 11: 73,167,977 probably benign Het
Pfas A T 11: 68,993,463 probably benign Het
Pknox2 A G 9: 36,923,633 L180P probably damaging Het
Psmd5 C A 2: 34,854,274 C412F probably benign Het
Rbks T A 5: 31,660,017 D136V probably damaging Het
Rgl1 A G 1: 152,528,469 probably benign Het
Scube3 A G 17: 28,167,684 D721G probably damaging Het
Snrnp200 T A 2: 127,232,905 V1466D possibly damaging Het
Stambp A T 6: 83,552,031 L344Q probably damaging Het
Tctn1 A T 5: 122,258,849 I157N probably damaging Het
Top2b T A 14: 16,409,965 D877E probably benign Het
Vmn1r78 G A 7: 12,152,707 G82S probably damaging Het
Vnn1 T C 10: 23,903,551 F453L possibly damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Other mutations in Fgd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00764:Fgd6 APN 10 94043634 missense probably benign 0.01
IGL00975:Fgd6 APN 10 94134076 missense probably damaging 0.98
IGL01366:Fgd6 APN 10 94043476 missense possibly damaging 0.71
IGL01940:Fgd6 APN 10 94089650 splice site probably null
IGL01958:Fgd6 APN 10 94138308 missense probably benign 0.25
IGL01988:Fgd6 APN 10 94074335 splice site probably benign
IGL02074:Fgd6 APN 10 94127435 missense probably damaging 1.00
IGL02227:Fgd6 APN 10 94134084 missense probably damaging 1.00
IGL02262:Fgd6 APN 10 94125628 missense probably damaging 0.98
IGL02353:Fgd6 APN 10 94138396 missense possibly damaging 0.82
IGL02360:Fgd6 APN 10 94138396 missense possibly damaging 0.82
IGL02425:Fgd6 APN 10 94074202 missense probably benign 0.00
IGL02526:Fgd6 APN 10 94100511 missense probably benign 0.21
IGL02607:Fgd6 APN 10 94044448 missense possibly damaging 0.94
IGL02741:Fgd6 APN 10 94123290 missense possibly damaging 0.65
IGL02870:Fgd6 APN 10 94045164 missense probably damaging 1.00
IGL02884:Fgd6 APN 10 94045639 splice site probably benign
IGL02995:Fgd6 APN 10 94045480 nonsense probably null
IGL03189:Fgd6 APN 10 94044456 missense probably benign 0.26
IGL03258:Fgd6 APN 10 94133353 missense probably benign 0.44
IGL03396:Fgd6 APN 10 94044456 missense probably benign 0.26
FR4449:Fgd6 UTSW 10 94044320 small deletion probably benign
R0257:Fgd6 UTSW 10 94043915 missense probably benign 0.11
R0926:Fgd6 UTSW 10 94135047 missense probably benign 0.40
R1325:Fgd6 UTSW 10 94127427 missense probably damaging 1.00
R1422:Fgd6 UTSW 10 94045372 missense probably damaging 1.00
R1491:Fgd6 UTSW 10 94044832 missense probably benign 0.06
R1593:Fgd6 UTSW 10 94045032 missense probably damaging 1.00
R1624:Fgd6 UTSW 10 94137436 missense probably benign 0.19
R1929:Fgd6 UTSW 10 94045006 missense probably benign 0.01
R2064:Fgd6 UTSW 10 94045041 missense probably damaging 0.98
R2965:Fgd6 UTSW 10 94044194 missense probably benign 0.03
R2966:Fgd6 UTSW 10 94044194 missense probably benign 0.03
R3889:Fgd6 UTSW 10 94089637 missense probably damaging 1.00
R4094:Fgd6 UTSW 10 94043434 missense probably damaging 1.00
R4605:Fgd6 UTSW 10 94044355 missense probably benign 0.12
R4883:Fgd6 UTSW 10 94139853 missense probably benign 0.00
R5217:Fgd6 UTSW 10 94134077 missense possibly damaging 0.90
R5473:Fgd6 UTSW 10 94044676 missense probably benign 0.00
R5606:Fgd6 UTSW 10 94138328 nonsense probably null
R5644:Fgd6 UTSW 10 94134050 missense possibly damaging 0.80
R6051:Fgd6 UTSW 10 94137565 critical splice donor site probably null
R6258:Fgd6 UTSW 10 94044299 missense probably benign 0.00
R6735:Fgd6 UTSW 10 94074320 missense possibly damaging 0.94
R7181:Fgd6 UTSW 10 94043511 missense probably benign 0.02
R7210:Fgd6 UTSW 10 94134092 missense probably damaging 0.98
R7296:Fgd6 UTSW 10 94044047 nonsense probably null
R7296:Fgd6 UTSW 10 94139881 missense probably benign 0.02
R7697:Fgd6 UTSW 10 94045444 missense probably damaging 0.99
R7747:Fgd6 UTSW 10 94044916 missense probably damaging 1.00
R7861:Fgd6 UTSW 10 94103331 missense probably benign 0.15
R7940:Fgd6 UTSW 10 94120482 missense probably benign 0.02
R8022:Fgd6 UTSW 10 94044344 missense possibly damaging 0.54
R8138:Fgd6 UTSW 10 94134143 missense probably null 0.45
R8171:Fgd6 UTSW 10 94074332 critical splice donor site probably null
R8189:Fgd6 UTSW 10 94074215 missense probably benign 0.00
R8213:Fgd6 UTSW 10 94044052 missense probably benign 0.37
R8960:Fgd6 UTSW 10 94045006 missense probably benign 0.06
R8981:Fgd6 UTSW 10 94045054 missense possibly damaging 0.80
R8989:Fgd6 UTSW 10 94123563 missense probably damaging 0.97
RF031:Fgd6 UTSW 10 94044325 frame shift probably null
RF040:Fgd6 UTSW 10 94044325 frame shift probably null
Posted On 2014-05-07