Incidental Mutation 'R8513:Fgd3'
ID |
655993 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fgd3
|
Ensembl Gene |
ENSMUSG00000037946 |
Gene Name |
FYVE, RhoGEF and PH domain containing 3 |
Synonyms |
ZFYVE5, 5830461L01Rik |
MMRRC Submission |
067889-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R8513 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
49415030-49473783 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 49417400 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 688
(T688A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048692
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048716]
[ENSMUST00000110087]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048716
AA Change: T688A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000048692 Gene: ENSMUSG00000037946 AA Change: T688A
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
AA Change: T688A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000105714 Gene: ENSMUSG00000037946 AA Change: T688A
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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apoe |
C |
A |
7: 19,430,565 (GRCm39) |
G226W |
probably damaging |
Het |
Armc9 |
T |
C |
1: 86,090,405 (GRCm39) |
F67L |
probably damaging |
Het |
Bsn |
T |
C |
9: 107,991,709 (GRCm39) |
I1348V |
possibly damaging |
Het |
Cdc73 |
C |
A |
1: 143,493,129 (GRCm39) |
E402* |
probably null |
Het |
Coro2a |
ACCAGAAGAGCCATCCAG |
ACCAG |
4: 46,544,117 (GRCm39) |
|
probably null |
Het |
Cpt2 |
G |
A |
4: 107,764,123 (GRCm39) |
A547V |
probably damaging |
Het |
Cpxm2 |
A |
T |
7: 131,745,431 (GRCm39) |
H131Q |
probably benign |
Het |
Ctdp1 |
G |
A |
18: 80,492,678 (GRCm39) |
L606F |
possibly damaging |
Het |
Dot1l |
T |
C |
10: 80,627,260 (GRCm39) |
S1494P |
possibly damaging |
Het |
Evpl |
C |
T |
11: 116,120,570 (GRCm39) |
|
probably null |
Het |
Galnt3 |
A |
T |
2: 65,924,064 (GRCm39) |
C401* |
probably null |
Het |
Gml2 |
C |
G |
15: 74,696,004 (GRCm39) |
P133A |
probably damaging |
Het |
Hepacam |
A |
G |
9: 37,291,930 (GRCm39) |
E86G |
probably benign |
Het |
Ilf3 |
A |
G |
9: 21,299,932 (GRCm39) |
E39G |
possibly damaging |
Het |
Kdm3b |
G |
T |
18: 34,926,129 (GRCm39) |
A90S |
probably benign |
Het |
Kiz |
A |
G |
2: 146,712,684 (GRCm39) |
|
probably null |
Het |
Myo1e |
T |
A |
9: 70,227,370 (GRCm39) |
L147H |
probably damaging |
Het |
Naa15 |
T |
A |
3: 51,367,444 (GRCm39) |
V539E |
probably damaging |
Het |
Nlrp6 |
A |
C |
7: 140,502,743 (GRCm39) |
D283A |
possibly damaging |
Het |
Ntf5 |
A |
G |
7: 45,065,179 (GRCm39) |
T104A |
probably damaging |
Het |
Or1e28-ps1 |
A |
G |
11: 73,615,148 (GRCm39) |
V234A |
unknown |
Het |
Pacsin3 |
A |
C |
2: 91,093,150 (GRCm39) |
N214T |
probably benign |
Het |
Pcdha6 |
T |
C |
18: 37,102,229 (GRCm39) |
I474T |
probably damaging |
Het |
Pcdhgb1 |
A |
G |
18: 37,813,581 (GRCm39) |
Y24C |
probably damaging |
Het |
Pde2a |
A |
T |
7: 101,158,972 (GRCm39) |
N749Y |
probably damaging |
Het |
Ptpn3 |
G |
A |
4: 57,270,085 (GRCm39) |
R26* |
probably null |
Het |
Rab7 |
T |
C |
6: 87,981,250 (GRCm39) |
Y144C |
probably benign |
Het |
Ralgps1 |
T |
C |
2: 33,226,626 (GRCm39) |
S22G |
probably damaging |
Het |
Setdb2 |
G |
A |
14: 59,639,839 (GRCm39) |
T668M |
probably damaging |
Het |
Slit2 |
T |
A |
5: 48,382,050 (GRCm39) |
C510* |
probably null |
Het |
Snrpa1 |
G |
A |
7: 65,720,381 (GRCm39) |
G195R |
probably benign |
Het |
Spata2l |
T |
C |
8: 123,960,438 (GRCm39) |
M284V |
probably benign |
Het |
Spata31d1c |
G |
T |
13: 65,180,991 (GRCm39) |
S30I |
probably damaging |
Het |
Stab1 |
C |
A |
14: 30,871,747 (GRCm39) |
|
probably null |
Het |
Tmem184b |
A |
T |
15: 79,254,123 (GRCm39) |
S142T |
probably benign |
Het |
Tmem201 |
A |
T |
4: 149,812,380 (GRCm39) |
M312K |
probably damaging |
Het |
Tpp1 |
A |
T |
7: 105,398,786 (GRCm39) |
D214E |
possibly damaging |
Het |
Trav7-2 |
C |
T |
14: 53,628,478 (GRCm39) |
S72F |
probably damaging |
Het |
Vmn1r37 |
A |
G |
6: 66,708,820 (GRCm39) |
T149A |
probably benign |
Het |
Zfp512 |
T |
C |
5: 31,637,425 (GRCm39) |
S505P |
probably damaging |
Het |
Zfp942 |
T |
C |
17: 22,147,282 (GRCm39) |
D449G |
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 |
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 |
Z1176:Fgd3
|
UTSW |
13 |
49,435,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTGACTTCTAAGGTCACCCAG -3'
(R):5'- GCTGCACTGTGTAAGGCATG -3'
Sequencing Primer
(F):5'- TTGACTTCTAAGGTCACCCAGAAAAG -3'
(R):5'- GCATGTTGGGTGGCCAC -3'
|
Posted On |
2020-10-20 |