Incidental Mutation 'R1422:Fgd6'
| ID |
161132 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgd6
|
| Ensembl Gene |
ENSMUSG00000020021 |
| Gene Name |
FYVE, RhoGEF and PH domain containing 6 |
| Synonyms |
Etohd4, ZFYVE24 |
| MMRRC Submission |
039478-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.413)
|
| Stock # |
R1422 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
93871863-93981201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93881234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 696
(E696G)
|
| 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: E696G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020208
Gene: ENSMUSG00000020021
AA Change: E696G
| 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 |
|
| Meta Mutation Damage Score |
0.0981 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.6%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,610,333 (GRCm39) |
T170A |
probably benign |
Het |
| Arhgap5 |
T |
A |
12: 52,566,297 (GRCm39) |
D1089E |
probably damaging |
Het |
| Atrn |
T |
C |
2: 130,799,834 (GRCm39) |
Y404H |
probably damaging |
Het |
| Becn1 |
T |
C |
11: 101,185,952 (GRCm39) |
D98G |
possibly damaging |
Het |
| Coro2b |
A |
G |
9: 62,336,229 (GRCm39) |
|
probably null |
Het |
| Cpne4 |
T |
C |
9: 104,777,484 (GRCm39) |
I143T |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 194,853,433 (GRCm39) |
I35T |
probably benign |
Het |
| Ctns |
T |
C |
11: 73,076,072 (GRCm39) |
Y321C |
probably damaging |
Het |
| Cyp4f16 |
A |
T |
17: 32,761,973 (GRCm39) |
M174L |
probably damaging |
Het |
| Dpy19l4 |
T |
C |
4: 11,317,168 (GRCm39) |
E10G |
possibly damaging |
Het |
| Dtx3 |
T |
A |
10: 127,027,158 (GRCm39) |
I339F |
possibly damaging |
Het |
| Fam184a |
A |
T |
10: 53,551,304 (GRCm39) |
M625K |
probably benign |
Het |
| Gm17535 |
A |
G |
9: 3,035,804 (GRCm39) |
Y224C |
probably null |
Het |
| Gria1 |
T |
A |
11: 57,080,614 (GRCm39) |
L199Q |
probably benign |
Het |
| Hk1 |
T |
C |
10: 62,131,873 (GRCm39) |
D184G |
probably null |
Het |
| Ift88 |
T |
C |
14: 57,675,758 (GRCm39) |
|
probably benign |
Het |
| Ift88 |
G |
A |
14: 57,710,436 (GRCm39) |
V403M |
probably damaging |
Het |
| Igsf1 |
C |
A |
X: 48,871,813 (GRCm39) |
G737* |
probably null |
Het |
| Kif19a |
A |
G |
11: 114,676,635 (GRCm39) |
D488G |
probably benign |
Het |
| Lpcat2 |
T |
C |
8: 93,606,045 (GRCm39) |
L232P |
probably damaging |
Het |
| Ly9 |
A |
G |
1: 171,428,780 (GRCm39) |
V280A |
probably damaging |
Het |
| Macrod2 |
T |
A |
2: 140,261,861 (GRCm39) |
|
probably null |
Het |
| Mmp1a |
A |
G |
9: 7,464,298 (GRCm39) |
|
probably null |
Het |
| Mmrn2 |
A |
G |
14: 34,118,196 (GRCm39) |
H80R |
probably damaging |
Het |
| Or2b4 |
T |
C |
17: 38,116,254 (GRCm39) |
Y73H |
probably damaging |
Het |
| Or51f23 |
G |
A |
7: 102,453,057 (GRCm39) |
R124H |
probably benign |
Het |
| Or5l13 |
G |
A |
2: 87,780,439 (GRCm39) |
T46I |
probably benign |
Het |
| Pkd1l3 |
C |
A |
8: 110,348,340 (GRCm39) |
P194H |
unknown |
Het |
| Plk2 |
A |
G |
13: 110,536,023 (GRCm39) |
M576V |
probably damaging |
Het |
| Pms2 |
T |
A |
5: 143,850,523 (GRCm39) |
S113T |
probably damaging |
Het |
| Ptprk |
A |
G |
10: 28,351,276 (GRCm39) |
I590V |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Rad17 |
A |
G |
13: 100,781,590 (GRCm39) |
L69P |
probably benign |
Het |
| Rmc1 |
G |
A |
18: 12,314,680 (GRCm39) |
D87N |
probably damaging |
Het |
| Robo2 |
G |
A |
16: 73,775,336 (GRCm39) |
T466M |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,439,498 (GRCm39) |
C9R |
probably benign |
Het |
| Slc6a19 |
A |
G |
13: 73,833,988 (GRCm39) |
S357P |
probably benign |
Het |
| Spata31e2 |
C |
G |
1: 26,721,547 (GRCm39) |
S1211T |
possibly damaging |
Het |
| Spock3 |
T |
C |
8: 63,597,023 (GRCm39) |
I109T |
possibly damaging |
Het |
| Svs6 |
T |
C |
2: 164,159,580 (GRCm39) |
|
probably null |
Het |
| Tenm4 |
A |
T |
7: 96,199,258 (GRCm39) |
D17V |
probably damaging |
Het |
| Trp53bp2 |
T |
A |
1: 182,274,029 (GRCm39) |
M558K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,572,014 (GRCm39) |
E26293G |
probably damaging |
Het |
| Vmn1r29 |
A |
G |
6: 58,284,871 (GRCm39) |
Y197C |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,032,080 (GRCm39) |
|
probably benign |
Het |
| Zfp366 |
A |
G |
13: 99,365,804 (GRCm39) |
K322E |
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 |
|
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'- ATCCGCTCGCTAGAGAGCCAAAAG -3'
(R):5'- CTGACACCCACGTATTACCTGCAAG -3'
Sequencing Primer
(F):5'- CAAAAGGACTTGAAAGTGATTGGC -3'
(R):5'- CGTATTACCTGCAAGGCTGATG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation