Incidental Mutation 'R5753:Fgd3'
| ID |
444907 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgd3
|
| Ensembl Gene |
ENSMUSG00000037946 |
| Gene Name |
FYVE, RhoGEF and PH domain containing 3 |
| Synonyms |
ZFYVE5, 5830461L01Rik |
| MMRRC Submission |
043358-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R5753 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
49415030-49473783 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 49428416 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 486
(E486V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105714
(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: E486V
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000048692
Gene: ENSMUSG00000037946
AA Change: E486V
| 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: E486V
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000105713
Gene: ENSMUSG00000037946
AA Change: E486V
| 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: E486V
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105714
Gene: ENSMUSG00000037946
AA Change: E486V
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
97% (58/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
C |
T |
5: 88,120,374 (GRCm39) |
T377I |
probably damaging |
Het |
| Abcb1a |
A |
G |
5: 8,773,160 (GRCm39) |
D796G |
probably damaging |
Het |
| Actn3 |
T |
C |
19: 4,914,595 (GRCm39) |
|
probably null |
Het |
| Ada |
A |
T |
2: 163,577,318 (GRCm39) |
S57T |
probably benign |
Het |
| Adamts6 |
A |
G |
13: 104,483,858 (GRCm39) |
Y359C |
probably damaging |
Het |
| Adcy1 |
A |
T |
11: 7,080,300 (GRCm39) |
I348F |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,622,043 (GRCm39) |
E603G |
possibly damaging |
Het |
| Bcas3 |
A |
G |
11: 85,712,910 (GRCm39) |
|
probably benign |
Het |
| Cldn1 |
C |
A |
16: 26,181,871 (GRCm39) |
V113L |
probably benign |
Het |
| Dock9 |
T |
C |
14: 121,872,037 (GRCm39) |
T540A |
probably benign |
Het |
| Erp27 |
A |
G |
6: 136,896,875 (GRCm39) |
F109S |
probably damaging |
Het |
| F13a1 |
G |
A |
13: 37,082,082 (GRCm39) |
Q541* |
probably null |
Het |
| Fam124a |
T |
C |
14: 62,843,988 (GRCm39) |
S499P |
probably benign |
Het |
| Flnc |
T |
C |
6: 29,433,488 (GRCm39) |
S11P |
probably benign |
Het |
| Gm12508 |
C |
A |
4: 55,254,787 (GRCm39) |
|
noncoding transcript |
Het |
| Grk2 |
C |
T |
19: 4,340,496 (GRCm39) |
R295H |
probably damaging |
Het |
| Gtf2ird1 |
A |
G |
5: 134,439,837 (GRCm39) |
M131T |
probably damaging |
Het |
| H4c4 |
G |
A |
13: 23,765,587 (GRCm39) |
M1I |
probably null |
Het |
| Itpripl2 |
A |
G |
7: 118,090,232 (GRCm39) |
V109A |
probably damaging |
Het |
| Jakmip2 |
T |
C |
18: 43,692,181 (GRCm39) |
E585G |
probably damaging |
Het |
| Kbtbd3 |
A |
T |
9: 4,331,404 (GRCm39) |
I593F |
possibly damaging |
Het |
| Lgr4 |
C |
T |
2: 109,832,857 (GRCm39) |
Q316* |
probably null |
Het |
| Mcf2l |
T |
C |
8: 13,049,993 (GRCm39) |
F305S |
probably damaging |
Het |
| Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
| Or4c3 |
T |
C |
2: 89,851,847 (GRCm39) |
T188A |
possibly damaging |
Het |
| Or4k51 |
T |
A |
2: 111,585,146 (GRCm39) |
I184K |
possibly damaging |
Het |
| Or4q3 |
T |
A |
14: 50,583,045 (GRCm39) |
T285S |
probably damaging |
Het |
| Or51b17 |
A |
G |
7: 103,542,408 (GRCm39) |
L178P |
probably damaging |
Het |
| Or5d18 |
G |
A |
2: 87,864,920 (GRCm39) |
L188F |
probably damaging |
Het |
| Or5w18 |
A |
T |
2: 87,633,596 (GRCm39) |
M288L |
probably benign |
Het |
| Or7a40 |
A |
T |
16: 16,491,484 (GRCm39) |
Y120* |
probably null |
Het |
| Pcdh9 |
T |
A |
14: 94,125,597 (GRCm39) |
D191V |
probably damaging |
Het |
| Pde4d |
T |
A |
13: 109,909,256 (GRCm39) |
|
probably benign |
Het |
| Phkb |
C |
T |
8: 86,604,859 (GRCm39) |
A88V |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,057,620 (GRCm39) |
S4128P |
probably damaging |
Het |
| Plekha5 |
A |
T |
6: 140,482,730 (GRCm39) |
|
probably null |
Het |
| Rgs13 |
A |
C |
1: 144,016,478 (GRCm39) |
N88K |
probably benign |
Het |
| Rho |
T |
A |
6: 115,912,448 (GRCm39) |
I104N |
probably damaging |
Het |
| Rnps1 |
T |
C |
17: 24,637,138 (GRCm39) |
|
probably benign |
Het |
| Saxo5 |
A |
T |
8: 3,534,112 (GRCm39) |
I350L |
probably benign |
Het |
| Slc10a7 |
G |
T |
8: 79,251,928 (GRCm39) |
|
probably null |
Het |
| Slc39a7 |
C |
T |
17: 34,249,150 (GRCm39) |
R246K |
probably damaging |
Het |
| Sort1 |
G |
C |
3: 108,253,090 (GRCm39) |
G510A |
probably damaging |
Het |
| Spag6l |
A |
G |
16: 16,584,831 (GRCm39) |
|
probably null |
Het |
| Sync |
T |
A |
4: 129,187,179 (GRCm39) |
Y70* |
probably null |
Het |
| Timm8a2 |
T |
C |
14: 122,272,289 (GRCm39) |
V64A |
probably benign |
Het |
| Tnfrsf11b |
C |
A |
15: 54,117,455 (GRCm39) |
V267L |
possibly damaging |
Het |
| Trim30b |
A |
G |
7: 104,006,544 (GRCm39) |
V104A |
possibly damaging |
Het |
| Tusc3 |
T |
C |
8: 39,564,100 (GRCm39) |
S244P |
probably damaging |
Het |
| Usp16 |
T |
A |
16: 87,279,787 (GRCm39) |
Y746N |
probably damaging |
Het |
| Vax1 |
G |
T |
19: 59,154,814 (GRCm39) |
H274Q |
probably benign |
Het |
| Vmn2r108 |
A |
G |
17: 20,683,179 (GRCm39) |
V675A |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,239,670 (GRCm39) |
W298R |
probably damaging |
Het |
| Zfp948 |
A |
G |
17: 21,807,156 (GRCm39) |
N116S |
probably damaging |
Het |
| Zkscan2 |
A |
G |
7: 123,079,923 (GRCm39) |
V678A |
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 |
|
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'- ACGCTTCCTCTACACGAACG -3'
(R):5'- TCTTGTTGGATCCAAAGCAGAG -3'
Sequencing Primer
(F):5'- TTCCTCTACACGAACGCTAACCTG -3'
(R):5'- TGTTGGATCCAAAGCAGAGAGTCAG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation