Incidental Mutation 'R0926:Fgd6'
ID |
83213 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fgd6
|
Ensembl Gene |
ENSMUSG00000020021 |
Gene Name |
FYVE, RhoGEF and PH domain containing 6 |
Synonyms |
Etohd4, ZFYVE24 |
MMRRC Submission |
039073-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.413)
|
Stock # |
R0926 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
93871863-93981201 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 93970909 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 1229
(Y1229N)
|
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: Y1229N
PolyPhen 2
Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000020208 Gene: ENSMUSG00000020021 AA Change: Y1229N
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
|
Meta Mutation Damage Score |
0.1523 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.2%
|
Validation Efficiency |
98% (61/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
T |
C |
9: 57,164,832 (GRCm39) |
D514G |
probably damaging |
Het |
Acbd7 |
A |
T |
2: 3,341,478 (GRCm39) |
I41F |
possibly damaging |
Het |
Actr8 |
G |
T |
14: 29,709,181 (GRCm39) |
V262L |
probably benign |
Het |
Anp32e |
A |
G |
3: 95,844,454 (GRCm39) |
D108G |
probably damaging |
Het |
Banp |
G |
A |
8: 122,747,294 (GRCm39) |
G448S |
probably benign |
Het |
Camsap3 |
G |
A |
8: 3,637,960 (GRCm39) |
|
probably null |
Het |
Cd22 |
C |
A |
7: 30,568,934 (GRCm39) |
|
probably null |
Het |
Cfap58 |
A |
T |
19: 47,951,001 (GRCm39) |
Q454L |
probably damaging |
Het |
Cntn4 |
C |
T |
6: 106,632,542 (GRCm39) |
T522I |
probably benign |
Het |
Col11a1 |
G |
A |
3: 113,883,829 (GRCm39) |
D233N |
unknown |
Het |
Csmd1 |
G |
T |
8: 16,083,590 (GRCm39) |
|
probably null |
Het |
Csmd3 |
T |
A |
15: 47,840,429 (GRCm39) |
Y946F |
probably damaging |
Het |
D5Ertd579e |
G |
T |
5: 36,830,210 (GRCm39) |
P38Q |
probably damaging |
Het |
Dnal4 |
T |
C |
15: 79,646,226 (GRCm39) |
T93A |
probably benign |
Het |
Dsp |
A |
T |
13: 38,367,194 (GRCm39) |
D614V |
probably damaging |
Het |
Fcgr1 |
A |
T |
3: 96,199,682 (GRCm39) |
I75N |
possibly damaging |
Het |
Fhip2a |
G |
A |
19: 57,369,522 (GRCm39) |
A383T |
probably damaging |
Het |
Frmpd1 |
T |
G |
4: 45,268,497 (GRCm39) |
L214R |
probably damaging |
Het |
Gapvd1 |
A |
T |
2: 34,602,337 (GRCm39) |
D603E |
probably damaging |
Het |
H2-M9 |
A |
G |
17: 36,952,665 (GRCm39) |
V127A |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,782,296 (GRCm39) |
S1328T |
possibly damaging |
Het |
Ica1l |
T |
C |
1: 60,045,456 (GRCm39) |
N269S |
probably benign |
Het |
Il18r1 |
T |
C |
1: 40,526,188 (GRCm39) |
Y245H |
probably damaging |
Het |
Il6ra |
A |
T |
3: 89,794,376 (GRCm39) |
V195E |
probably damaging |
Het |
Inpp5j |
A |
G |
11: 3,451,439 (GRCm39) |
|
probably benign |
Het |
Isy1 |
T |
C |
6: 87,796,125 (GRCm39) |
T271A |
probably benign |
Het |
Klra9 |
T |
C |
6: 130,155,993 (GRCm39) |
Y254C |
probably damaging |
Het |
Ly6e |
T |
G |
15: 74,830,219 (GRCm39) |
S73A |
probably damaging |
Het |
Mcmdc2 |
T |
A |
1: 9,990,801 (GRCm39) |
L326* |
probably null |
Het |
Muc4 |
G |
A |
16: 32,576,570 (GRCm39) |
|
probably benign |
Het |
Myh3 |
A |
G |
11: 66,981,340 (GRCm39) |
|
probably null |
Het |
Ndor1 |
G |
A |
2: 25,138,360 (GRCm39) |
H409Y |
probably benign |
Het |
Nwd2 |
A |
G |
5: 63,965,234 (GRCm39) |
D1606G |
probably damaging |
Het |
Or2t44 |
A |
G |
11: 58,677,935 (GRCm39) |
N292D |
probably damaging |
Het |
Or3a1d |
G |
A |
11: 74,238,132 (GRCm39) |
R93C |
probably benign |
Het |
Or4f7 |
A |
G |
2: 111,644,892 (GRCm39) |
Y60H |
probably damaging |
Het |
Or51f1e |
T |
C |
7: 102,747,092 (GRCm39) |
L48P |
probably damaging |
Het |
Or5b99 |
A |
T |
19: 12,976,554 (GRCm39) |
D68V |
probably damaging |
Het |
Or5h18 |
A |
G |
16: 58,848,051 (GRCm39) |
I73T |
possibly damaging |
Het |
Or5l13 |
A |
T |
2: 87,780,266 (GRCm39) |
F104I |
probably damaging |
Het |
Paox |
C |
A |
7: 139,713,951 (GRCm39) |
T237K |
probably damaging |
Het |
Pcmtd1 |
T |
A |
1: 7,231,243 (GRCm39) |
L4I |
probably damaging |
Het |
Pfkl |
T |
A |
10: 77,836,523 (GRCm39) |
T165S |
probably damaging |
Het |
Pik3ap1 |
A |
G |
19: 41,290,964 (GRCm39) |
S523P |
probably benign |
Het |
Pitpnm1 |
A |
G |
19: 4,162,338 (GRCm39) |
D1056G |
probably damaging |
Het |
Pitpnm2 |
G |
A |
5: 124,269,272 (GRCm39) |
T450I |
probably benign |
Het |
Pou2f3 |
T |
C |
9: 43,058,198 (GRCm39) |
D37G |
probably damaging |
Het |
Prdm5 |
A |
G |
6: 65,860,531 (GRCm39) |
H221R |
probably damaging |
Het |
Pwp1 |
T |
A |
10: 85,712,378 (GRCm39) |
I72N |
probably damaging |
Het |
Rhou |
A |
G |
8: 124,387,715 (GRCm39) |
E149G |
probably damaging |
Het |
She |
A |
G |
3: 89,758,901 (GRCm39) |
|
probably benign |
Het |
Slc26a9 |
A |
C |
1: 131,680,954 (GRCm39) |
H121P |
probably benign |
Het |
Spag17 |
A |
G |
3: 99,979,432 (GRCm39) |
D1431G |
probably benign |
Het |
Trpm3 |
A |
T |
19: 22,965,407 (GRCm39) |
D1634V |
probably benign |
Het |
Ttn |
A |
G |
2: 76,627,571 (GRCm39) |
|
probably benign |
Het |
Zc3h14 |
T |
A |
12: 98,724,849 (GRCm39) |
D170E |
possibly damaging |
Het |
Zcrb1 |
T |
C |
15: 93,289,409 (GRCm39) |
K51E |
probably damaging |
Het |
Zfp110 |
C |
T |
7: 12,583,808 (GRCm39) |
Q819* |
probably null |
Het |
Zfp616 |
A |
G |
11: 73,976,644 (GRCm39) |
N971S |
probably benign |
Het |
Zfp827 |
A |
T |
8: 79,844,821 (GRCm39) |
T664S |
probably benign |
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 |
|
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CATGCCGAAATGCCATGCGATAAG -3'
(R):5'- GGGGTCAGTCCAATTTCTCTCAGC -3'
Sequencing Primer
(F):5'- GCCATGCGATAAGTGAGATTTAGTC -3'
(R):5'- TCTGTAGCTCTTGGAAGCAG -3'
|
Posted On |
2013-11-08 |