Incidental Mutation 'IGL02327:Fgd3'
ID |
288528 |
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 # |
IGL02327
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
49415030-49473783 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 49439274 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 241
(K241E)
|
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: K241E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000048692 Gene: ENSMUSG00000037946 AA Change: K241E
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: K241E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105713 Gene: ENSMUSG00000037946 AA Change: K241E
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: K241E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105714 Gene: ENSMUSG00000037946 AA Change: K241E
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd9 |
A |
T |
12: 110,943,849 (GRCm39) |
C29S |
probably damaging |
Het |
Ccdc66 |
G |
A |
14: 27,215,343 (GRCm39) |
A399V |
probably damaging |
Het |
Ccl12 |
A |
G |
11: 81,993,948 (GRCm39) |
I68M |
possibly damaging |
Het |
Cd244a |
T |
C |
1: 171,386,909 (GRCm39) |
V6A |
probably benign |
Het |
Cfap97 |
T |
A |
8: 46,623,179 (GRCm39) |
S190T |
probably damaging |
Het |
Chic2 |
G |
T |
5: 75,187,741 (GRCm39) |
C106* |
probably null |
Het |
Ctdsp2 |
G |
A |
10: 126,832,251 (GRCm39) |
D237N |
probably benign |
Het |
Cyp2a22 |
A |
T |
7: 26,634,206 (GRCm39) |
M316K |
probably damaging |
Het |
Cyp3a25 |
A |
G |
5: 145,923,731 (GRCm39) |
F304S |
possibly damaging |
Het |
Ddc |
A |
T |
11: 11,813,739 (GRCm39) |
V209D |
probably damaging |
Het |
Dhx16 |
A |
G |
17: 36,194,717 (GRCm39) |
K446R |
probably benign |
Het |
Hps1 |
G |
T |
19: 42,744,784 (GRCm39) |
|
probably benign |
Het |
Inpp4b |
C |
T |
8: 82,768,591 (GRCm39) |
T700I |
probably benign |
Het |
Kremen2 |
T |
A |
17: 23,962,543 (GRCm39) |
M157L |
probably benign |
Het |
Lrwd1 |
T |
C |
5: 136,152,318 (GRCm39) |
Y582C |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,365,523 (GRCm39) |
R1514S |
probably benign |
Het |
Mex3c |
T |
A |
18: 73,723,781 (GRCm39) |
C625S |
probably damaging |
Het |
Mical1 |
G |
A |
10: 41,362,660 (GRCm39) |
E932K |
possibly damaging |
Het |
Ncf2 |
A |
T |
1: 152,692,744 (GRCm39) |
Y87F |
possibly damaging |
Het |
Neo1 |
T |
C |
9: 58,810,371 (GRCm39) |
T1027A |
probably benign |
Het |
Nfkbib |
G |
T |
7: 28,458,568 (GRCm39) |
P347Q |
probably benign |
Het |
Nr1h2 |
G |
A |
7: 44,200,924 (GRCm39) |
|
probably benign |
Het |
Or1e25 |
A |
T |
11: 73,493,981 (GRCm39) |
T192S |
probably damaging |
Het |
Or2t43 |
T |
A |
11: 58,457,761 (GRCm39) |
R137W |
probably damaging |
Het |
Or9m2 |
A |
T |
2: 87,820,601 (GRCm39) |
I49F |
probably damaging |
Het |
Oxct1 |
A |
G |
15: 4,066,571 (GRCm39) |
|
probably null |
Het |
Pak1ip1 |
T |
G |
13: 41,165,893 (GRCm39) |
N308K |
probably benign |
Het |
Prpf38a |
T |
C |
4: 108,425,607 (GRCm39) |
R224G |
unknown |
Het |
Scfd1 |
T |
C |
12: 51,436,100 (GRCm39) |
V83A |
possibly damaging |
Het |
Tmem131 |
C |
T |
1: 36,838,103 (GRCm39) |
G1545D |
probably damaging |
Het |
Trav13n-4 |
A |
T |
14: 53,601,567 (GRCm39) |
|
probably benign |
Het |
Ttc3 |
A |
G |
16: 94,248,967 (GRCm39) |
D1155G |
probably damaging |
Het |
Unc80 |
G |
A |
1: 66,680,832 (GRCm39) |
V2143I |
probably benign |
Het |
Vmn2r16 |
T |
C |
5: 109,487,987 (GRCm39) |
Y287H |
probably benign |
Het |
Vmn2r59 |
A |
G |
7: 41,661,655 (GRCm39) |
V720A |
probably benign |
Het |
Wars1 |
T |
A |
12: 108,832,227 (GRCm39) |
|
probably null |
Het |
Wdcp |
A |
G |
12: 4,901,115 (GRCm39) |
K324E |
possibly damaging |
Het |
Wdfy3 |
A |
T |
5: 102,036,058 (GRCm39) |
L2105H |
probably damaging |
Het |
Xirp2 |
A |
T |
2: 67,340,444 (GRCm39) |
D895V |
probably damaging |
Het |
Zscan10 |
A |
T |
17: 23,826,546 (GRCm39) |
|
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 |
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 |
2015-04-16 |