Incidental Mutation 'IGL02134:Fgd3'
ID |
281222 |
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 # |
IGL02134
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
49415030-49473783 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 49450225 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 8
(S8L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105713
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048716]
[ENSMUST00000110086]
[ENSMUST00000110087]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048716
AA Change: S8L
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000048692 Gene: ENSMUSG00000037946 AA Change: S8L
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 |
possibly damaging
Transcript: ENSMUST00000110086
AA Change: S8L
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000105713 Gene: ENSMUSG00000037946 AA Change: S8L
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 |
possibly damaging
Transcript: ENSMUST00000110087
AA Change: S8L
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000105714 Gene: ENSMUSG00000037946 AA Change: S8L
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 |
Adgrf4 |
T |
C |
17: 42,980,581 (GRCm39) |
N168S |
probably damaging |
Het |
Angptl3 |
A |
T |
4: 98,919,349 (GRCm39) |
R36S |
probably damaging |
Het |
Ap5z1 |
T |
C |
5: 142,460,214 (GRCm39) |
F514L |
probably benign |
Het |
Arhgef39 |
C |
A |
4: 43,497,578 (GRCm39) |
|
probably null |
Het |
Aste1 |
A |
G |
9: 105,275,043 (GRCm39) |
S11G |
probably damaging |
Het |
Cadm4 |
T |
C |
7: 24,198,986 (GRCm39) |
V87A |
probably benign |
Het |
Cd177 |
A |
G |
7: 24,451,777 (GRCm39) |
I413T |
probably benign |
Het |
Col5a2 |
A |
G |
1: 45,430,230 (GRCm39) |
|
probably null |
Het |
Dera |
C |
T |
6: 137,807,269 (GRCm39) |
A239V |
probably damaging |
Het |
Ecm1 |
T |
C |
3: 95,643,499 (GRCm39) |
E283G |
probably damaging |
Het |
Eml6 |
G |
T |
11: 29,709,066 (GRCm39) |
H24N |
probably benign |
Het |
Etl4 |
A |
G |
2: 20,811,240 (GRCm39) |
K1425E |
possibly damaging |
Het |
Gli1 |
T |
C |
10: 127,172,369 (GRCm39) |
E228G |
probably benign |
Het |
Hivep3 |
A |
G |
4: 119,990,771 (GRCm39) |
|
probably benign |
Het |
Iqcc |
A |
G |
4: 129,512,818 (GRCm39) |
S11P |
probably damaging |
Het |
Itpkc |
G |
A |
7: 26,927,300 (GRCm39) |
Q205* |
probably null |
Het |
Jmjd1c |
T |
A |
10: 67,056,171 (GRCm39) |
S530R |
possibly damaging |
Het |
Kcnq1 |
A |
G |
7: 142,737,453 (GRCm39) |
H257R |
possibly damaging |
Het |
Kcnt2 |
G |
A |
1: 140,304,121 (GRCm39) |
V164I |
probably benign |
Het |
Lgr5 |
T |
C |
10: 115,288,763 (GRCm39) |
H603R |
possibly damaging |
Het |
Lrp2 |
T |
C |
2: 69,343,723 (GRCm39) |
|
probably null |
Het |
Lrrn2 |
A |
G |
1: 132,865,555 (GRCm39) |
M207V |
possibly damaging |
Het |
Miip |
A |
G |
4: 147,949,735 (GRCm39) |
|
probably benign |
Het |
Mrps35 |
T |
C |
6: 146,949,808 (GRCm39) |
|
probably benign |
Het |
Nuf2 |
A |
T |
1: 169,341,069 (GRCm39) |
M184K |
probably benign |
Het |
Or10q1 |
C |
A |
19: 13,727,165 (GRCm39) |
R232S |
probably benign |
Het |
Or14j2 |
C |
T |
17: 37,886,249 (GRCm39) |
E22K |
probably benign |
Het |
Or2f2 |
A |
G |
6: 42,767,398 (GRCm39) |
T142A |
probably benign |
Het |
Or4a15 |
A |
T |
2: 89,193,172 (GRCm39) |
N200K |
probably damaging |
Het |
Or8g32 |
A |
T |
9: 39,305,830 (GRCm39) |
I248F |
probably damaging |
Het |
Os9 |
T |
C |
10: 126,956,861 (GRCm39) |
I42V |
possibly damaging |
Het |
Rapgef4 |
A |
C |
2: 72,010,405 (GRCm39) |
Q177P |
probably damaging |
Het |
Rhpn2 |
T |
C |
7: 35,070,536 (GRCm39) |
|
probably benign |
Het |
Scn5a |
T |
C |
9: 119,314,958 (GRCm39) |
R1916G |
probably damaging |
Het |
Serpine1 |
T |
A |
5: 137,095,889 (GRCm39) |
|
probably benign |
Het |
Snd1 |
C |
T |
6: 28,880,278 (GRCm39) |
P684L |
possibly damaging |
Het |
Tgds |
T |
C |
14: 118,350,534 (GRCm39) |
N340D |
probably benign |
Het |
Trpc4 |
A |
T |
3: 54,223,075 (GRCm39) |
Y706F |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,584,166 (GRCm39) |
D22314V |
probably damaging |
Het |
Utrn |
G |
A |
10: 12,519,163 (GRCm39) |
T2263I |
probably damaging |
Het |
Vmn1r11 |
A |
T |
6: 57,115,022 (GRCm39) |
T229S |
possibly damaging |
Het |
Zfp142 |
T |
G |
1: 74,609,022 (GRCm39) |
H1488P |
probably damaging |
Het |
Zfp219 |
A |
G |
14: 52,246,758 (GRCm39) |
L78P |
probably damaging |
Het |
Zfp629 |
T |
A |
7: 127,211,042 (GRCm39) |
T256S |
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 |
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 |
2015-04-16 |