Incidental Mutation 'IGL02532:Fgd3'
| ID |
297352 |
| 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 # |
IGL02532
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
49415030-49473783 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 49439237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 253
(A253V)
|
| 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 damaging
Transcript: ENSMUST00000048716
AA Change: A253V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048692
Gene: ENSMUSG00000037946
AA Change: A253V
| 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 damaging
Transcript: ENSMUST00000110086
AA Change: A253V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105713
Gene: ENSMUSG00000037946
AA Change: A253V
| 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 damaging
Transcript: ENSMUST00000110087
AA Change: A253V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105714
Gene: ENSMUSG00000037946
AA Change: A253V
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
T |
C |
7: 28,947,645 (GRCm39) |
K15E |
possibly damaging |
Het |
| Abca2 |
A |
G |
2: 25,325,148 (GRCm39) |
T381A |
probably benign |
Het |
| Adcy1 |
T |
A |
11: 7,094,737 (GRCm39) |
N554K |
probably benign |
Het |
| Adcy5 |
A |
G |
16: 35,092,453 (GRCm39) |
I605V |
possibly damaging |
Het |
| Arhgap11a |
G |
T |
2: 113,664,021 (GRCm39) |
S754* |
probably null |
Het |
| Arhgef28 |
T |
A |
13: 98,166,391 (GRCm39) |
D319V |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,474,327 (GRCm39) |
D2410G |
probably damaging |
Het |
| Carmil2 |
T |
A |
8: 106,419,063 (GRCm39) |
|
probably null |
Het |
| Catip |
A |
G |
1: 74,403,775 (GRCm39) |
N189S |
probably damaging |
Het |
| Cd177 |
T |
C |
7: 24,444,674 (GRCm39) |
K636E |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,380,927 (GRCm39) |
T145A |
probably benign |
Het |
| Cthrc1 |
T |
C |
15: 38,940,560 (GRCm39) |
|
probably benign |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Fas |
C |
A |
19: 34,293,999 (GRCm39) |
T118N |
probably damaging |
Het |
| Fig4 |
A |
G |
10: 41,161,277 (GRCm39) |
|
probably benign |
Het |
| Fubp3 |
T |
C |
2: 31,490,571 (GRCm39) |
|
probably benign |
Het |
| Gria2 |
T |
A |
3: 80,614,306 (GRCm39) |
E578V |
probably damaging |
Het |
| Gtpbp1 |
T |
A |
15: 79,604,278 (GRCm39) |
V662E |
probably benign |
Het |
| Hbb-bt |
T |
C |
7: 103,463,081 (GRCm39) |
|
probably benign |
Het |
| Ighv6-5 |
T |
A |
12: 114,380,424 (GRCm39) |
D50V |
probably benign |
Het |
| Inpp5k |
T |
C |
11: 75,524,010 (GRCm39) |
|
probably benign |
Het |
| Kalrn |
T |
C |
16: 34,181,216 (GRCm39) |
N141D |
probably damaging |
Het |
| Kbtbd8 |
A |
G |
6: 95,103,517 (GRCm39) |
T389A |
probably benign |
Het |
| Klhl6 |
C |
A |
16: 19,775,832 (GRCm39) |
R242L |
possibly damaging |
Het |
| Kmt2b |
T |
C |
7: 30,286,314 (GRCm39) |
|
probably benign |
Het |
| Krt13 |
A |
T |
11: 100,010,195 (GRCm39) |
L262Q |
probably damaging |
Het |
| Lingo2 |
T |
C |
4: 35,709,171 (GRCm39) |
K270E |
possibly damaging |
Het |
| Mroh7 |
A |
G |
4: 106,577,788 (GRCm39) |
S297P |
probably benign |
Het |
| Ndufs1 |
G |
A |
1: 63,209,298 (GRCm39) |
R22C |
probably damaging |
Het |
| Nlrp5 |
T |
A |
7: 23,109,398 (GRCm39) |
S115T |
possibly damaging |
Het |
| Nup50l |
A |
C |
6: 96,141,771 (GRCm39) |
S424R |
probably damaging |
Het |
| Pfpl |
A |
T |
19: 12,406,209 (GRCm39) |
R153S |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,187,944 (GRCm39) |
I3455F |
probably damaging |
Het |
| Psme1 |
T |
A |
14: 55,818,595 (GRCm39) |
Y223* |
probably null |
Het |
| R3hdm1 |
T |
C |
1: 128,124,836 (GRCm39) |
|
probably null |
Het |
| Rnf103 |
A |
G |
6: 71,486,809 (GRCm39) |
D480G |
probably benign |
Het |
| Rnf103 |
T |
G |
6: 71,486,636 (GRCm39) |
S422R |
probably damaging |
Het |
| Rps6ka2 |
T |
C |
17: 7,523,365 (GRCm39) |
V213A |
probably damaging |
Het |
| Sort1 |
G |
T |
3: 108,233,036 (GRCm39) |
K203N |
probably benign |
Het |
| Sugp1 |
A |
T |
8: 70,512,469 (GRCm39) |
K239N |
possibly damaging |
Het |
| Sult2a8 |
C |
T |
7: 14,150,183 (GRCm39) |
R176K |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,320,291 (GRCm39) |
N888K |
probably damaging |
Het |
| Vmn1r4 |
A |
C |
6: 56,934,135 (GRCm39) |
H213P |
possibly damaging |
Het |
| Wdr45b |
G |
T |
11: 121,219,639 (GRCm39) |
T303K |
probably benign |
Het |
|
| Other mutations in Fgd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00539:Fgd3
|
APN |
13 |
49,429,119 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation