Incidental Mutation 'IGL02367:Fgd3'
| ID |
290779 |
| 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 # |
IGL02367
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
49415030-49473783 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49440802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 210
(F210L)
|
| 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: F210L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048692
Gene: ENSMUSG00000037946
AA Change: F210L
| 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: F210L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105713
Gene: ENSMUSG00000037946
AA Change: F210L
| 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: F210L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105714
Gene: ENSMUSG00000037946
AA Change: F210L
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
T |
C |
15: 81,949,748 (GRCm39) |
L1215P |
probably benign |
Het |
| Angptl7 |
T |
C |
4: 148,584,601 (GRCm39) |
N49S |
possibly damaging |
Het |
| Asns |
A |
G |
6: 7,685,411 (GRCm39) |
|
probably benign |
Het |
| Atr |
T |
A |
9: 95,781,194 (GRCm39) |
Y1419* |
probably null |
Het |
| Bptf |
A |
T |
11: 106,964,178 (GRCm39) |
I1672N |
probably benign |
Het |
| Cgas |
G |
A |
9: 78,341,667 (GRCm39) |
T370I |
probably benign |
Het |
| Chd1 |
A |
G |
17: 17,610,315 (GRCm39) |
T490A |
probably damaging |
Het |
| Cyfip2 |
A |
T |
11: 46,167,732 (GRCm39) |
C223* |
probably null |
Het |
| Ddr1 |
G |
A |
17: 35,994,372 (GRCm39) |
A801V |
probably damaging |
Het |
| Dnah12 |
T |
C |
14: 26,430,316 (GRCm39) |
V308A |
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,158,926 (GRCm39) |
V703A |
probably damaging |
Het |
| Gm6526 |
T |
G |
14: 43,988,262 (GRCm39) |
V171G |
probably damaging |
Het |
| Grin3a |
A |
G |
4: 49,702,805 (GRCm39) |
Y894H |
probably damaging |
Het |
| Grm3 |
C |
A |
5: 9,561,660 (GRCm39) |
C730F |
probably damaging |
Het |
| Habp4 |
C |
A |
13: 64,321,905 (GRCm39) |
P181T |
probably damaging |
Het |
| Hdac4 |
A |
G |
1: 91,886,171 (GRCm39) |
|
probably benign |
Het |
| Ints5 |
A |
G |
19: 8,872,959 (GRCm39) |
D306G |
probably benign |
Het |
| Mid2 |
T |
A |
X: 139,637,245 (GRCm39) |
I273N |
probably damaging |
Het |
| Ndufs2 |
A |
T |
1: 171,066,934 (GRCm39) |
Y114* |
probably null |
Het |
| Neu4 |
G |
T |
1: 93,952,213 (GRCm39) |
R194L |
probably damaging |
Het |
| Ntng1 |
A |
T |
3: 110,042,829 (GRCm39) |
|
probably null |
Het |
| Nub1 |
A |
G |
5: 24,894,392 (GRCm39) |
M1V |
probably null |
Het |
| Olfml2a |
A |
G |
2: 38,844,680 (GRCm39) |
T379A |
probably benign |
Het |
| Or9e1 |
A |
T |
11: 58,732,338 (GRCm39) |
I133F |
probably benign |
Het |
| Pex3 |
G |
T |
10: 13,400,643 (GRCm39) |
Q303K |
probably benign |
Het |
| Pmp2 |
A |
T |
3: 10,247,560 (GRCm39) |
I43N |
probably damaging |
Het |
| Pnliprp1 |
T |
A |
19: 58,726,601 (GRCm39) |
D319E |
probably benign |
Het |
| Rap1gap2 |
A |
T |
11: 74,288,181 (GRCm39) |
|
probably null |
Het |
| Rpl15-ps6 |
T |
C |
15: 52,341,368 (GRCm39) |
|
noncoding transcript |
Het |
| Rwdd3 |
A |
G |
3: 120,952,679 (GRCm39) |
V104A |
probably damaging |
Het |
| Sbf1 |
A |
T |
15: 89,191,775 (GRCm39) |
V157E |
probably damaging |
Het |
| Slc4a11 |
T |
A |
2: 130,526,879 (GRCm39) |
I750F |
probably damaging |
Het |
| Tcea1 |
G |
A |
1: 4,948,356 (GRCm39) |
|
probably null |
Het |
| Ush2a |
A |
T |
1: 188,516,943 (GRCm39) |
M3218L |
probably benign |
Het |
| Utp20 |
G |
A |
10: 88,607,715 (GRCm39) |
|
probably benign |
Het |
| Zfp493 |
T |
A |
13: 67,935,089 (GRCm39) |
Y347* |
probably null |
Het |
| Zswim6 |
T |
C |
13: 107,880,637 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
Incidental Mutation