Incidental Mutation 'R7697:Fgd6'
ID |
593723 |
Institutional Source |
Beutler Lab
|
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: 0.387)
|
Stock # |
R7697 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
93871863-93981201 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 93881306 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 720
(V720D)
|
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: V720D
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000020208 Gene: ENSMUSG00000020021 AA Change: V720D
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd4 |
T |
C |
14: 54,500,216 (GRCm39) |
V87A |
probably damaging |
Het |
Acadsb |
A |
G |
7: 131,031,698 (GRCm39) |
E178G |
probably damaging |
Het |
Acoxl |
A |
G |
2: 127,820,702 (GRCm39) |
T365A |
probably benign |
Het |
Adcy8 |
T |
G |
15: 64,618,850 (GRCm39) |
I768L |
probably benign |
Het |
Bloc1s4 |
A |
G |
5: 36,905,959 (GRCm39) |
S11P |
probably benign |
Het |
Brinp2 |
T |
C |
1: 158,095,496 (GRCm39) |
I122V |
probably benign |
Het |
Brwd1 |
T |
C |
16: 95,847,601 (GRCm39) |
D673G |
probably benign |
Het |
Cbx8 |
C |
A |
11: 118,931,637 (GRCm39) |
E14* |
probably null |
Het |
Cep295 |
T |
A |
9: 15,266,006 (GRCm39) |
M49L |
probably benign |
Het |
Cfap157 |
T |
C |
2: 32,669,765 (GRCm39) |
N273D |
probably benign |
Het |
Cntn3 |
A |
T |
6: 102,185,127 (GRCm39) |
V663E |
probably damaging |
Het |
Cntn3 |
C |
T |
6: 102,185,128 (GRCm39) |
V663M |
probably damaging |
Het |
Cspg5 |
G |
C |
9: 110,085,294 (GRCm39) |
R488S |
probably damaging |
Het |
Csrnp2 |
A |
T |
15: 100,385,953 (GRCm39) |
M95K |
probably damaging |
Het |
Dnah3 |
A |
T |
7: 119,566,657 (GRCm39) |
V136E |
|
Het |
Drg2 |
T |
A |
11: 60,353,003 (GRCm39) |
I212N |
probably damaging |
Het |
Egfem1 |
T |
C |
3: 29,744,346 (GRCm39) |
|
probably null |
Het |
Eif1ad18 |
T |
C |
12: 88,050,749 (GRCm39) |
Y95H |
probably damaging |
Het |
Enpep |
T |
A |
3: 129,102,750 (GRCm39) |
D402V |
probably damaging |
Het |
Fanci |
T |
A |
7: 79,056,040 (GRCm39) |
|
probably null |
Het |
Fhod1 |
T |
A |
8: 106,074,563 (GRCm39) |
|
probably benign |
Het |
Flnc |
T |
A |
6: 29,456,516 (GRCm39) |
I2238N |
probably damaging |
Het |
Frmd4a |
A |
G |
2: 4,488,892 (GRCm39) |
E79G |
probably damaging |
Het |
Gabrr2 |
A |
T |
4: 33,071,358 (GRCm39) |
Y66F |
probably benign |
Het |
Ggnbp1 |
T |
G |
17: 27,249,736 (GRCm39) |
I192S |
probably benign |
Het |
Gm32742 |
C |
T |
9: 51,058,901 (GRCm39) |
V1039I |
probably benign |
Het |
H2-D1 |
T |
C |
17: 35,482,121 (GRCm39) |
L11P |
probably damaging |
Het |
Hsd17b4 |
A |
G |
18: 50,263,208 (GRCm39) |
Y25C |
probably damaging |
Het |
Ildr2 |
C |
A |
1: 166,122,300 (GRCm39) |
Q248K |
probably benign |
Het |
Klrb1c |
T |
C |
6: 128,757,273 (GRCm39) |
H264R |
probably benign |
Het |
Lrp11 |
C |
T |
10: 7,479,983 (GRCm39) |
A346V |
probably benign |
Het |
Mast4 |
G |
A |
13: 102,875,711 (GRCm39) |
P1319L |
probably damaging |
Het |
Mcm9 |
A |
C |
10: 53,491,990 (GRCm39) |
F392V |
|
Het |
Med12l |
C |
T |
3: 59,148,078 (GRCm39) |
A965V |
probably damaging |
Het |
Mrps7 |
A |
G |
11: 115,495,701 (GRCm39) |
T80A |
probably benign |
Het |
Mtor |
T |
A |
4: 148,624,765 (GRCm39) |
Y2125* |
probably null |
Het |
Myoc |
A |
G |
1: 162,475,049 (GRCm39) |
E200G |
probably damaging |
Het |
Natd1 |
A |
G |
11: 60,797,808 (GRCm39) |
V39A |
probably damaging |
Het |
Notch4 |
C |
T |
17: 34,789,159 (GRCm39) |
T486I |
probably damaging |
Het |
Or10am5 |
T |
C |
7: 6,517,645 (GRCm39) |
Y261C |
probably damaging |
Het |
Or10n1 |
A |
G |
9: 39,525,157 (GRCm39) |
Q98R |
probably damaging |
Het |
Or2c1 |
G |
A |
16: 3,657,430 (GRCm39) |
V198M |
probably damaging |
Het |
Or5aq6 |
T |
A |
2: 86,923,162 (GRCm39) |
H193L |
probably benign |
Het |
Pdss2 |
T |
A |
10: 43,221,544 (GRCm39) |
I152N |
probably damaging |
Het |
Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
Plec |
T |
C |
15: 76,065,885 (GRCm39) |
E1395G |
unknown |
Het |
Polr2b |
T |
C |
5: 77,468,059 (GRCm39) |
Y120H |
probably damaging |
Het |
Pyroxd2 |
C |
T |
19: 42,735,805 (GRCm39) |
C99Y |
probably benign |
Het |
Rela |
T |
C |
19: 5,691,630 (GRCm39) |
V268A |
probably damaging |
Het |
Rgs3 |
C |
T |
4: 62,575,379 (GRCm39) |
P589S |
probably benign |
Het |
Rtn1 |
A |
G |
12: 72,455,151 (GRCm39) |
S59P |
probably benign |
Het |
Siae |
A |
G |
9: 37,544,950 (GRCm39) |
Y315C |
probably damaging |
Het |
Susd3 |
C |
A |
13: 49,391,074 (GRCm39) |
W147L |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,702,047 (GRCm39) |
|
probably null |
Het |
Ubr3 |
A |
G |
2: 69,728,030 (GRCm39) |
Y131C |
probably damaging |
Het |
Unc80 |
C |
T |
1: 66,677,104 (GRCm39) |
P2011L |
possibly damaging |
Het |
Usp9y |
T |
C |
Y: 1,316,990 (GRCm39) |
E1853G |
possibly damaging |
Het |
Wls |
C |
A |
3: 159,616,955 (GRCm39) |
H331Q |
probably benign |
Het |
Xkr6 |
C |
A |
14: 63,844,628 (GRCm39) |
P217Q |
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 |
|
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 |
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 |
|
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'- GCAAGGTTTGGCTACAGGAG -3'
(R):5'- CACCCACGTATTACCTGCAAGG -3'
Sequencing Primer
(F):5'- CAAGGTTTGGCTACAGGAGAAGAG -3'
(R):5'- CACGTATTACCTGCAAGGCTGATG -3'
|
Posted On |
2019-11-12 |