Incidental Mutation 'R5710:Fgd3'
| ID |
452184 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgd3
|
| Ensembl Gene |
ENSMUSG00000037946 |
| Gene Name |
FYVE, RhoGEF and PH domain containing 3 |
| Synonyms |
ZFYVE5, 5830461L01Rik |
| MMRRC Submission |
044396-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R5710 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
49415030-49473783 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 49450205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 15
(I15F)
|
| 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 benign
Transcript: ENSMUST00000048716
AA Change: I15F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000048692
Gene: ENSMUSG00000037946
AA Change: I15F
| 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: ENSMUST00000110086
AA Change: I15F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000105713
Gene: ENSMUSG00000037946
AA Change: I15F
| 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 benign
Transcript: ENSMUST00000110087
AA Change: I15F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000105714
Gene: ENSMUSG00000037946
AA Change: I15F
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam28 |
G |
A |
14: 68,847,357 (GRCm39) |
H713Y |
probably damaging |
Het |
| Adam39 |
A |
T |
8: 41,277,684 (GRCm39) |
Y25F |
probably benign |
Het |
| Ankfn1 |
T |
C |
11: 89,394,751 (GRCm39) |
N278S |
probably benign |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Arhgap18 |
G |
A |
10: 26,736,729 (GRCm39) |
|
probably null |
Het |
| Bcl2a1b |
A |
C |
9: 89,081,732 (GRCm39) |
Q107P |
probably benign |
Het |
| Btbd9 |
A |
G |
17: 30,447,842 (GRCm39) |
S525P |
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,482,852 (GRCm39) |
S2093P |
probably benign |
Het |
| Ccnd1 |
T |
C |
7: 144,491,781 (GRCm39) |
D86G |
possibly damaging |
Het |
| Chdh |
C |
A |
14: 29,756,584 (GRCm39) |
Q337K |
probably damaging |
Het |
| Cldn9 |
T |
C |
17: 23,902,421 (GRCm39) |
D68G |
probably damaging |
Het |
| Cpt1b |
T |
A |
15: 89,309,409 (GRCm39) |
K41N |
probably damaging |
Het |
| Dsg1c |
T |
C |
18: 20,405,408 (GRCm39) |
Y274H |
probably benign |
Het |
| Eif2ak3 |
T |
A |
6: 70,860,717 (GRCm39) |
I431N |
probably damaging |
Het |
| Erbb2 |
T |
A |
11: 98,317,906 (GRCm39) |
W416R |
probably damaging |
Het |
| Fkbp14 |
T |
A |
6: 54,566,255 (GRCm39) |
|
probably null |
Het |
| Havcr1 |
T |
C |
11: 46,643,353 (GRCm39) |
V91A |
probably damaging |
Het |
| Kmt2d |
T |
C |
15: 98,751,987 (GRCm39) |
|
probably benign |
Het |
| Lipc |
T |
A |
9: 70,719,979 (GRCm39) |
I343F |
probably benign |
Het |
| Madd |
T |
C |
2: 90,984,821 (GRCm39) |
T1331A |
probably damaging |
Het |
| Mcm5 |
A |
C |
8: 75,847,538 (GRCm39) |
D445A |
probably damaging |
Het |
| Mdga2 |
C |
A |
12: 66,553,556 (GRCm39) |
L98F |
probably damaging |
Het |
| Micall1 |
C |
A |
15: 79,011,290 (GRCm39) |
H553Q |
probably damaging |
Het |
| Mxd4 |
A |
G |
5: 34,344,671 (GRCm39) |
|
probably null |
Het |
| Peg10 |
CC |
CCCCATCAGGC |
6: 4,756,350 (GRCm39) |
|
probably benign |
Het |
| Peg10 |
C |
CCCATCAGGA |
6: 4,756,351 (GRCm39) |
|
probably benign |
Het |
| Prtg |
T |
A |
9: 72,716,922 (GRCm39) |
Y88N |
probably damaging |
Het |
| Saxo1 |
C |
T |
4: 86,363,272 (GRCm39) |
V404I |
possibly damaging |
Het |
| Sclt1 |
C |
A |
3: 41,618,398 (GRCm39) |
E14* |
probably null |
Het |
| Shfl |
G |
T |
9: 20,784,192 (GRCm39) |
R138L |
possibly damaging |
Het |
| Strn |
G |
A |
17: 78,995,028 (GRCm39) |
L162F |
probably damaging |
Het |
| T |
T |
C |
17: 8,660,474 (GRCm39) |
S221P |
probably benign |
Het |
| Tbl1xr1 |
A |
G |
3: 22,264,578 (GRCm39) |
D511G |
probably damaging |
Het |
| Ttc7 |
A |
C |
17: 87,597,674 (GRCm39) |
N82T |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,747,786 (GRCm39) |
R4421H |
possibly damaging |
Het |
| Uaca |
T |
A |
9: 60,779,093 (GRCm39) |
L1158Q |
probably damaging |
Het |
| Vdr |
T |
C |
15: 97,757,008 (GRCm39) |
Y288C |
probably damaging |
Het |
| Vdr |
A |
T |
15: 97,765,089 (GRCm39) |
S217T |
probably benign |
Het |
| Zhx2 |
T |
A |
15: 57,684,866 (GRCm39) |
Y78* |
probably null |
Het |
| Znhit1 |
C |
T |
5: 137,011,456 (GRCm39) |
C119Y |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTCCACTGTCTCTGTTGGGG -3'
(R):5'- TGTCTTGATAGGACCCAACGG -3'
Sequencing Primer
(F):5'- GGATCTTCATGGCACCACTTGG -3'
(R):5'- TGTGAAGTAGTATTTCCCACACAGCC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation