Incidental Mutation 'R6735:Fgd6'
ID |
530190 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fgd6
|
Ensembl Gene |
ENSMUSG00000020021 |
Gene Name |
FYVE, RhoGEF and PH domain containing 6 |
Synonyms |
Etohd4, ZFYVE24 |
MMRRC Submission |
044853-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.413)
|
Stock # |
R6735 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
93871863-93981201 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 93910182 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 829
(E829V)
|
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 |
possibly damaging
Transcript: ENSMUST00000020208
AA Change: E829V
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000020208 Gene: ENSMUSG00000020021 AA Change: E829V
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: ENSMUST00000141143
|
Meta Mutation Damage Score |
0.0719 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2510039O18Rik |
A |
G |
4: 148,026,274 (GRCm39) |
T265A |
probably benign |
Het |
Adap1 |
A |
T |
5: 139,278,900 (GRCm39) |
Y127N |
probably damaging |
Het |
Alg8 |
T |
C |
7: 97,032,189 (GRCm39) |
F246S |
probably benign |
Het |
Alpk1 |
A |
G |
3: 127,518,098 (GRCm39) |
Y68H |
probably damaging |
Het |
Arhgef5 |
T |
C |
6: 43,251,966 (GRCm39) |
S906P |
probably benign |
Het |
C9 |
A |
T |
15: 6,519,387 (GRCm39) |
D408V |
probably benign |
Het |
Cnot2 |
G |
A |
10: 116,334,058 (GRCm39) |
P371S |
possibly damaging |
Het |
Cpeb4 |
T |
A |
11: 31,874,700 (GRCm39) |
Y174N |
probably benign |
Het |
Enpp3 |
A |
G |
10: 24,683,351 (GRCm39) |
Y289H |
probably damaging |
Het |
Erbin |
A |
T |
13: 104,020,718 (GRCm39) |
D80E |
probably damaging |
Het |
Foxn2 |
T |
G |
17: 88,794,223 (GRCm39) |
S387A |
probably benign |
Het |
Hapstr1 |
T |
A |
16: 8,673,764 (GRCm39) |
H230Q |
probably benign |
Het |
Irag2 |
T |
C |
6: 145,106,619 (GRCm39) |
L201S |
probably damaging |
Het |
Kif13a |
A |
G |
13: 46,906,222 (GRCm39) |
S574P |
possibly damaging |
Het |
Lhx6 |
T |
G |
2: 35,981,390 (GRCm39) |
D67A |
probably damaging |
Het |
Lmbr1l |
A |
T |
15: 98,807,121 (GRCm39) |
M220K |
probably damaging |
Het |
Macroh2a2 |
A |
G |
10: 61,577,046 (GRCm39) |
I274T |
probably damaging |
Het |
Naa35 |
T |
C |
13: 59,773,378 (GRCm39) |
L111P |
probably damaging |
Het |
Notch2 |
T |
A |
3: 98,041,902 (GRCm39) |
V1307E |
probably damaging |
Het |
Nts |
T |
A |
10: 102,320,859 (GRCm39) |
M77L |
probably benign |
Het |
Or5m11b |
A |
C |
2: 85,805,778 (GRCm39) |
S64R |
possibly damaging |
Het |
Pigz |
A |
G |
16: 31,764,361 (GRCm39) |
N473S |
probably benign |
Het |
Pkd2 |
A |
G |
5: 104,628,195 (GRCm39) |
D423G |
probably damaging |
Het |
Plac8 |
A |
G |
5: 100,710,485 (GRCm39) |
|
probably null |
Het |
Ppp2r2b |
T |
C |
18: 42,821,653 (GRCm39) |
|
probably null |
Het |
Proc |
T |
C |
18: 32,256,701 (GRCm39) |
N322S |
probably benign |
Het |
Prpf40b |
C |
T |
15: 99,212,784 (GRCm39) |
R627W |
probably damaging |
Het |
Psd3 |
A |
G |
8: 68,573,398 (GRCm39) |
|
probably null |
Het |
Safb |
A |
G |
17: 56,892,169 (GRCm39) |
|
probably benign |
Het |
Scnn1g |
A |
G |
7: 121,341,486 (GRCm39) |
D216G |
probably benign |
Het |
Septin7 |
A |
G |
9: 25,215,048 (GRCm39) |
E345G |
possibly damaging |
Het |
Sult2a5 |
A |
T |
7: 13,398,983 (GRCm39) |
K197* |
probably null |
Het |
Suv39h1 |
C |
A |
X: 7,929,138 (GRCm39) |
R397L |
probably damaging |
Homo |
Thbs4 |
T |
A |
13: 92,891,674 (GRCm39) |
M814L |
possibly damaging |
Het |
Tmem14a |
T |
A |
1: 21,299,805 (GRCm39) |
|
probably benign |
Het |
Tmprss11d |
C |
A |
5: 86,457,159 (GRCm39) |
A167S |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,629,252 (GRCm39) |
C14362F |
probably damaging |
Het |
Usp15 |
T |
C |
10: 123,004,272 (GRCm39) |
I161V |
possibly damaging |
Het |
Vmn1r67 |
T |
C |
7: 10,181,138 (GRCm39) |
L134P |
probably damaging |
Het |
Wdr74 |
A |
G |
19: 8,713,586 (GRCm39) |
E73G |
possibly damaging |
Het |
Zbtb49 |
A |
T |
5: 38,358,402 (GRCm39) |
M617K |
possibly damaging |
Het |
Zc3h3 |
G |
A |
15: 75,628,483 (GRCm39) |
T937I |
probably benign |
Het |
Zeb2 |
C |
T |
2: 45,000,028 (GRCm39) |
V25M |
probably null |
Het |
Zfp108 |
T |
C |
7: 23,961,197 (GRCm39) |
F596S |
probably damaging |
Het |
Zfyve1 |
T |
A |
12: 83,641,618 (GRCm39) |
N13Y |
possibly damaging |
Het |
Zswim2 |
T |
C |
2: 83,754,105 (GRCm39) |
D185G |
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 |
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 |
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'- TTCTCTCACATGGCCAGGATG -3'
(R):5'- AACAAACTTAAGCCTTTGCAGC -3'
Sequencing Primer
(F):5'- CAGGATGAGGGACCTGGTTC -3'
(R):5'- AAACTTAAGCCTTTGCAGCCTCTC -3'
|
Posted On |
2018-08-01 |