Incidental Mutation 'IGL00539:Fgd3'
ID |
13478 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fgd3
|
Ensembl Gene |
ENSMUSG00000037946 |
Gene Name |
FYVE, RhoGEF and PH domain containing 3 |
Synonyms |
ZFYVE5, 5830461L01Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
IGL00539
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
49415030-49473783 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 49429119 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105714
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048716]
[ENSMUST00000110086]
[ENSMUST00000110087]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048716
|
SMART Domains |
Protein: ENSMUSP00000048692 Gene: ENSMUSG00000037946
Domain | Start | End | E-Value | Type |
low complexity region
|
87 |
98 |
N/A |
INTRINSIC |
RhoGEF
|
157 |
336 |
1.41e-58 |
SMART |
PH
|
367 |
467 |
3.01e-17 |
SMART |
FYVE
|
520 |
585 |
1.78e-7 |
SMART |
PH
|
613 |
713 |
2.81e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110086
|
SMART Domains |
Protein: ENSMUSP00000105713 Gene: ENSMUSG00000037946
Domain | Start | End | E-Value | Type |
low complexity region
|
87 |
98 |
N/A |
INTRINSIC |
RhoGEF
|
157 |
336 |
1.41e-58 |
SMART |
PH
|
367 |
467 |
3.01e-17 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110087
|
SMART Domains |
Protein: ENSMUSP00000105714 Gene: ENSMUSG00000037946
Domain | Start | End | E-Value | Type |
low complexity region
|
87 |
98 |
N/A |
INTRINSIC |
RhoGEF
|
157 |
336 |
1.41e-58 |
SMART |
PH
|
367 |
467 |
3.01e-17 |
SMART |
FYVE
|
520 |
585 |
1.78e-7 |
SMART |
PH
|
613 |
713 |
2.81e-8 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
C |
A |
19: 8,985,272 (GRCm39) |
D2185E |
possibly damaging |
Het |
Camk2b |
A |
G |
11: 5,922,310 (GRCm39) |
S560P |
probably damaging |
Het |
Cdh13 |
C |
A |
8: 120,039,245 (GRCm39) |
N562K |
possibly damaging |
Het |
Cdhr4 |
A |
G |
9: 107,876,744 (GRCm39) |
Y771C |
probably damaging |
Het |
Ermap |
A |
G |
4: 119,041,114 (GRCm39) |
S299P |
probably damaging |
Het |
Fpr-rs4 |
T |
A |
17: 18,242,188 (GRCm39) |
L65Q |
probably damaging |
Het |
Hsph1 |
C |
T |
5: 149,542,254 (GRCm39) |
R723H |
possibly damaging |
Het |
Iqcb1 |
A |
G |
16: 36,678,873 (GRCm39) |
K396E |
probably damaging |
Het |
Kif21a |
T |
C |
15: 90,821,504 (GRCm39) |
T1424A |
probably damaging |
Het |
Mpdz |
T |
C |
4: 81,279,588 (GRCm39) |
S700G |
possibly damaging |
Het |
Mta3 |
G |
A |
17: 84,070,412 (GRCm39) |
R39Q |
probably benign |
Het |
Muc4 |
A |
T |
16: 32,569,728 (GRCm39) |
T263S |
possibly damaging |
Het |
Ncan |
G |
A |
8: 70,567,921 (GRCm39) |
P64S |
probably benign |
Het |
Pisd |
T |
C |
5: 32,895,756 (GRCm39) |
I441V |
probably benign |
Het |
Pla2g4f |
T |
C |
2: 120,133,219 (GRCm39) |
H660R |
possibly damaging |
Het |
Polq |
A |
G |
16: 36,880,931 (GRCm39) |
T753A |
probably damaging |
Het |
Ptchd4 |
C |
T |
17: 42,627,817 (GRCm39) |
Q93* |
probably null |
Het |
Sfpq |
T |
C |
4: 126,917,481 (GRCm39) |
V437A |
possibly damaging |
Het |
Slc18b1 |
G |
A |
10: 23,700,659 (GRCm39) |
|
probably null |
Het |
Taf1c |
C |
T |
8: 120,328,067 (GRCm39) |
V277I |
possibly damaging |
Het |
Tcf20 |
T |
A |
15: 82,736,957 (GRCm39) |
Q1498L |
probably benign |
Het |
Tet1 |
C |
A |
10: 62,650,276 (GRCm39) |
C1644F |
probably damaging |
Het |
Trmt5 |
T |
C |
12: 73,331,693 (GRCm39) |
E121G |
possibly damaging |
Het |
Wapl |
A |
G |
14: 34,416,965 (GRCm39) |
D525G |
probably damaging |
Het |
Ylpm1 |
A |
G |
12: 85,075,728 (GRCm39) |
T360A |
possibly damaging |
Het |
Zfp292 |
G |
A |
4: 34,808,790 (GRCm39) |
P1418L |
probably damaging |
Het |
|
Other mutations in Fgd3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00816:Fgd3
|
APN |
13 |
49,418,262 (GRCm39) |
splice site |
probably benign |
|
IGL01797:Fgd3
|
APN |
13 |
49,443,065 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01993:Fgd3
|
APN |
13 |
49,433,664 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL02134:Fgd3
|
APN |
13 |
49,450,225 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL02327:Fgd3
|
APN |
13 |
49,439,274 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02367:Fgd3
|
APN |
13 |
49,440,802 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02532:Fgd3
|
APN |
13 |
49,439,237 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02830:Fgd3
|
APN |
13 |
49,418,107 (GRCm39) |
splice site |
probably benign |
|
IGL02888:Fgd3
|
APN |
13 |
49,435,292 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03209:Fgd3
|
APN |
13 |
49,439,294 (GRCm39) |
missense |
probably damaging |
1.00 |
R0016:Fgd3
|
UTSW |
13 |
49,450,085 (GRCm39) |
missense |
probably benign |
0.10 |
R0016:Fgd3
|
UTSW |
13 |
49,450,085 (GRCm39) |
missense |
probably benign |
0.10 |
R0064:Fgd3
|
UTSW |
13 |
49,449,901 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0064:Fgd3
|
UTSW |
13 |
49,449,901 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0285:Fgd3
|
UTSW |
13 |
49,417,424 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0526:Fgd3
|
UTSW |
13 |
49,450,000 (GRCm39) |
missense |
probably benign |
0.00 |
R0617:Fgd3
|
UTSW |
13 |
49,418,173 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0648:Fgd3
|
UTSW |
13 |
49,450,049 (GRCm39) |
missense |
probably benign |
0.23 |
R1529:Fgd3
|
UTSW |
13 |
49,420,170 (GRCm39) |
missense |
probably benign |
0.19 |
R1577:Fgd3
|
UTSW |
13 |
49,435,413 (GRCm39) |
missense |
probably damaging |
0.99 |
R1913:Fgd3
|
UTSW |
13 |
49,417,324 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2002:Fgd3
|
UTSW |
13 |
49,449,931 (GRCm39) |
missense |
probably benign |
0.05 |
R4342:Fgd3
|
UTSW |
13 |
49,427,185 (GRCm39) |
critical splice donor site |
probably null |
|
R4606:Fgd3
|
UTSW |
13 |
49,450,036 (GRCm39) |
missense |
probably damaging |
1.00 |
R4810:Fgd3
|
UTSW |
13 |
49,443,126 (GRCm39) |
missense |
probably benign |
0.01 |
R4885:Fgd3
|
UTSW |
13 |
49,417,465 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4962:Fgd3
|
UTSW |
13 |
49,420,105 (GRCm39) |
missense |
probably benign |
0.03 |
R4974:Fgd3
|
UTSW |
13 |
49,432,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R5201:Fgd3
|
UTSW |
13 |
49,449,854 (GRCm39) |
missense |
probably benign |
0.00 |
R5524:Fgd3
|
UTSW |
13 |
49,431,053 (GRCm39) |
missense |
probably damaging |
0.97 |
R5588:Fgd3
|
UTSW |
13 |
49,440,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R5710:Fgd3
|
UTSW |
13 |
49,450,205 (GRCm39) |
missense |
probably benign |
0.00 |
R5753:Fgd3
|
UTSW |
13 |
49,428,416 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6048:Fgd3
|
UTSW |
13 |
49,427,224 (GRCm39) |
missense |
probably benign |
0.01 |
R6086:Fgd3
|
UTSW |
13 |
49,440,772 (GRCm39) |
missense |
probably benign |
0.12 |
R7293:Fgd3
|
UTSW |
13 |
49,418,134 (GRCm39) |
missense |
probably benign |
0.00 |
R7311:Fgd3
|
UTSW |
13 |
49,450,166 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7383:Fgd3
|
UTSW |
13 |
49,421,785 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8205:Fgd3
|
UTSW |
13 |
49,449,823 (GRCm39) |
missense |
probably benign |
0.11 |
R8463:Fgd3
|
UTSW |
13 |
49,420,081 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8513:Fgd3
|
UTSW |
13 |
49,417,400 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Fgd3
|
UTSW |
13 |
49,435,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-12-06 |