Incidental Mutation 'R5201:Fgd3'
| ID |
400817 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgd3
|
| Ensembl Gene |
ENSMUSG00000037946 |
| Gene Name |
FYVE, RhoGEF and PH domain containing 3 |
| Synonyms |
ZFYVE5, 5830461L01Rik |
| MMRRC Submission |
042776-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R5201 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
49415030-49473783 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 49449854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 132
(P132T)
|
| 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: P132T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000048692
Gene: ENSMUSG00000037946
AA Change: P132T
| 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: P132T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000105713
Gene: ENSMUSG00000037946
AA Change: P132T
| 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: P132T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000105714
Gene: ENSMUSG00000037946
AA Change: P132T
| 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: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
C |
A |
15: 81,946,745 (GRCm39) |
T214N |
probably benign |
Het |
| Actn4 |
A |
T |
7: 28,615,680 (GRCm39) |
|
probably null |
Het |
| Arap2 |
T |
C |
5: 62,840,832 (GRCm39) |
E678G |
probably damaging |
Het |
| Atl2 |
T |
C |
17: 80,172,580 (GRCm39) |
N130S |
probably benign |
Het |
| Cby2 |
A |
G |
14: 75,821,449 (GRCm39) |
V101A |
probably damaging |
Het |
| Cyp2b10 |
A |
G |
7: 25,616,419 (GRCm39) |
D342G |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,172,715 (GRCm39) |
Y248H |
possibly damaging |
Het |
| Drd5 |
A |
T |
5: 38,477,366 (GRCm39) |
M120L |
probably damaging |
Het |
| Duox1 |
A |
G |
2: 122,158,403 (GRCm39) |
R629G |
probably benign |
Het |
| Dyrk1b |
A |
G |
7: 27,884,521 (GRCm39) |
Y279C |
probably damaging |
Het |
| Efemp1 |
A |
T |
11: 28,864,590 (GRCm39) |
I215L |
probably benign |
Het |
| Enpp6 |
C |
A |
8: 47,518,486 (GRCm39) |
Q205K |
probably damaging |
Het |
| Fam170a |
A |
T |
18: 50,415,193 (GRCm39) |
T280S |
probably benign |
Het |
| Fam222a |
G |
A |
5: 114,749,127 (GRCm39) |
A108T |
possibly damaging |
Het |
| Fzr1 |
A |
T |
10: 81,203,362 (GRCm39) |
L399H |
probably damaging |
Het |
| Galnt15 |
G |
A |
14: 31,771,822 (GRCm39) |
R289Q |
probably damaging |
Het |
| Hira |
T |
C |
16: 18,770,865 (GRCm39) |
V834A |
probably damaging |
Het |
| Ilf3 |
T |
C |
9: 21,300,679 (GRCm39) |
L93P |
probably damaging |
Het |
| Itgae |
G |
A |
11: 73,001,382 (GRCm39) |
R71Q |
probably benign |
Het |
| Itprid1 |
T |
C |
6: 55,944,991 (GRCm39) |
S571P |
probably benign |
Het |
| Kif14 |
T |
A |
1: 136,431,145 (GRCm39) |
S1181T |
probably benign |
Het |
| Lrig3 |
C |
A |
10: 125,849,020 (GRCm39) |
P946Q |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,369,738 (GRCm39) |
C1674* |
probably null |
Het |
| Malt1 |
A |
G |
18: 65,609,126 (GRCm39) |
K710R |
probably benign |
Het |
| Man1a2 |
A |
T |
3: 100,524,328 (GRCm39) |
N373K |
probably benign |
Het |
| Mpped2 |
A |
G |
2: 106,529,847 (GRCm39) |
N32S |
possibly damaging |
Het |
| Mrtfb |
A |
C |
16: 13,219,456 (GRCm39) |
T701P |
probably benign |
Het |
| Myh10 |
A |
T |
11: 68,674,021 (GRCm39) |
T652S |
probably damaging |
Het |
| Nfia |
A |
G |
4: 97,999,462 (GRCm39) |
Y485C |
probably damaging |
Het |
| Olfml2b |
A |
T |
1: 170,496,433 (GRCm39) |
T355S |
probably benign |
Het |
| Or10q3 |
A |
T |
19: 11,847,995 (GRCm39) |
I195K |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdh1 |
A |
T |
18: 38,331,971 (GRCm39) |
V344D |
probably damaging |
Het |
| Plekhn1 |
C |
A |
4: 156,314,984 (GRCm39) |
V558L |
probably benign |
Het |
| Prr14l |
A |
G |
5: 32,987,591 (GRCm39) |
S635P |
possibly damaging |
Het |
| Prss46 |
T |
A |
9: 110,680,543 (GRCm39) |
C229* |
probably null |
Het |
| Rad50 |
A |
G |
11: 53,589,647 (GRCm39) |
|
probably null |
Het |
| Slc27a3 |
A |
T |
3: 90,296,526 (GRCm39) |
L191Q |
probably benign |
Het |
| Surf4 |
A |
G |
2: 26,823,778 (GRCm39) |
|
probably benign |
Het |
| Taf3 |
A |
G |
2: 9,956,995 (GRCm39) |
S391P |
probably damaging |
Het |
| Tep1 |
A |
C |
14: 51,105,567 (GRCm39) |
L151R |
probably benign |
Het |
| Tmprss11d |
A |
C |
5: 86,457,214 (GRCm39) |
N148K |
possibly damaging |
Het |
| Tpd52l2 |
G |
A |
2: 181,156,879 (GRCm39) |
V172I |
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,460,846 (GRCm39) |
D724G |
probably damaging |
Het |
| Wdr75 |
T |
A |
1: 45,862,519 (GRCm39) |
D779E |
probably benign |
Het |
| Zfp943 |
A |
T |
17: 22,211,794 (GRCm39) |
K293N |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGGTATCAGGGTGCTCCTC -3'
(R):5'- GAATTGACAGCCCATCCTCC -3'
Sequencing Primer
(F):5'- TATCAGGGTGCTCCTCCGAGTC -3'
(R):5'- CAGTGTGGCCAGTGAGAACTTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation