Incidental Mutation 'IGL02830:Fgd3'
| ID |
361413 |
| 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 # |
IGL02830
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
49415030-49473783 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 49418107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048716]
[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: 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
T |
A |
17: 48,348,235 (GRCm39) |
E67D |
possibly damaging |
Het |
| Acad11 |
T |
A |
9: 103,953,118 (GRCm39) |
F116I |
probably damaging |
Het |
| Acox2 |
G |
A |
14: 8,255,298 (GRCm38) |
T160I |
probably damaging |
Het |
| Anxa7 |
A |
T |
14: 20,506,608 (GRCm39) |
M444K |
possibly damaging |
Het |
| Atg2a |
A |
G |
19: 6,297,711 (GRCm39) |
D423G |
probably benign |
Het |
| Cela3a |
T |
C |
4: 137,128,946 (GRCm39) |
N282S |
probably benign |
Het |
| Cyp2c50 |
G |
A |
19: 40,086,500 (GRCm39) |
V296I |
probably benign |
Het |
| Fcgbpl1 |
C |
A |
7: 27,862,348 (GRCm39) |
H2471Q |
probably damaging |
Het |
| Gfus |
C |
T |
15: 75,797,437 (GRCm39) |
V275I |
probably benign |
Het |
| Gimap8 |
G |
A |
6: 48,633,239 (GRCm39) |
A353T |
probably benign |
Het |
| Grin3a |
T |
A |
4: 49,702,787 (GRCm39) |
M900L |
possibly damaging |
Het |
| H1f0 |
T |
G |
15: 78,913,511 (GRCm39) |
|
probably benign |
Het |
| Heatr1 |
T |
C |
13: 12,441,093 (GRCm39) |
V1456A |
possibly damaging |
Het |
| Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
| Kbtbd3 |
T |
A |
9: 4,330,096 (GRCm39) |
S157T |
possibly damaging |
Het |
| Kif19a |
C |
T |
11: 114,672,034 (GRCm39) |
T207M |
probably damaging |
Het |
| Klc1 |
T |
C |
12: 111,743,341 (GRCm39) |
Y223H |
probably damaging |
Het |
| Klhl33 |
C |
T |
14: 51,129,214 (GRCm39) |
V672M |
probably damaging |
Het |
| Lrrc49 |
G |
A |
9: 60,592,393 (GRCm39) |
L34F |
probably damaging |
Het |
| Nalcn |
C |
T |
14: 123,530,881 (GRCm39) |
V1386I |
probably damaging |
Het |
| Or14c39 |
T |
G |
7: 86,344,382 (GRCm39) |
C239W |
probably damaging |
Het |
| Or4b13 |
A |
T |
2: 90,083,125 (GRCm39) |
I69N |
probably damaging |
Het |
| Or51b6 |
C |
T |
7: 103,555,651 (GRCm39) |
P2S |
probably benign |
Het |
| Or5ac19 |
A |
G |
16: 59,089,416 (GRCm39) |
S205P |
possibly damaging |
Het |
| Orc5 |
A |
T |
5: 22,734,265 (GRCm39) |
L173Q |
probably damaging |
Het |
| Otud4 |
T |
G |
8: 80,399,930 (GRCm39) |
D880E |
probably benign |
Het |
| Pde12 |
T |
C |
14: 26,389,740 (GRCm39) |
Y323C |
probably damaging |
Het |
| Pde8b |
G |
T |
13: 95,189,409 (GRCm39) |
D198E |
probably benign |
Het |
| Prom2 |
T |
A |
2: 127,376,989 (GRCm39) |
I542F |
possibly damaging |
Het |
| Ptprj |
G |
A |
2: 90,283,488 (GRCm39) |
T952I |
probably benign |
Het |
| Ribc2 |
T |
A |
15: 85,016,458 (GRCm39) |
|
probably benign |
Het |
| Sec31b |
C |
T |
19: 44,520,142 (GRCm39) |
R214K |
probably damaging |
Het |
| Senp5 |
G |
A |
16: 31,802,303 (GRCm39) |
|
probably benign |
Het |
| Sh3pxd2a |
G |
A |
19: 47,271,517 (GRCm39) |
R249W |
probably damaging |
Het |
| Sorcs3 |
G |
A |
19: 48,711,441 (GRCm39) |
|
probably null |
Het |
| Spata31d1c |
A |
G |
13: 65,183,180 (GRCm39) |
T241A |
probably benign |
Het |
| Tac1 |
G |
A |
6: 7,555,650 (GRCm39) |
V13I |
probably benign |
Het |
| Tnnc2 |
T |
A |
2: 164,619,430 (GRCm39) |
D138V |
probably null |
Het |
| Tspan32 |
T |
A |
7: 142,571,329 (GRCm39) |
M159K |
possibly damaging |
Het |
| Ttc28 |
A |
T |
5: 111,434,105 (GRCm39) |
T2380S |
probably benign |
Het |
| Ubc |
T |
A |
5: 125,464,377 (GRCm39) |
I317F |
probably damaging |
Het |
| Usp24 |
T |
C |
4: 106,204,584 (GRCm39) |
S268P |
possibly damaging |
Het |
| Vmn2r91 |
C |
A |
17: 18,356,884 (GRCm39) |
H850Q |
probably benign |
Het |
| Xrn1 |
T |
C |
9: 95,900,234 (GRCm39) |
|
probably null |
Het |
| Zfp329 |
A |
C |
7: 12,544,043 (GRCm39) |
C494G |
probably damaging |
Het |
| Zfp54 |
T |
C |
17: 21,653,718 (GRCm39) |
S71P |
probably damaging |
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 |
|
IGL02532:Fgd3
|
APN |
13 |
49,439,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-12-18 |
Incidental Mutation