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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |