Incidental Mutation 'R0064:Fgd3'
| ID |
34422 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgd3
|
| Ensembl Gene |
ENSMUSG00000037946 |
| Gene Name |
FYVE, RhoGEF and PH domain containing 3 |
| Synonyms |
ZFYVE5, 5830461L01Rik |
| MMRRC Submission |
038356-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R0064 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
49415030-49473783 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 49449901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 116
(D116A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105713
(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: D116A
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000048692
Gene: ENSMUSG00000037946
AA Change: D116A
| 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: D116A
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000105713
Gene: ENSMUSG00000037946
AA Change: D116A
| 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: D116A
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000105714
Gene: ENSMUSG00000037946
AA Change: D116A
| 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: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
G |
T |
11: 110,035,698 (GRCm39) |
L641M |
probably damaging |
Het |
| Abca9 |
A |
C |
11: 110,035,697 (GRCm39) |
L641R |
probably damaging |
Het |
| Abhd18 |
A |
G |
3: 40,888,288 (GRCm39) |
I377M |
probably benign |
Het |
| Arhgef17 |
C |
A |
7: 100,530,561 (GRCm39) |
M1408I |
probably benign |
Het |
| Bcl2a1a |
G |
C |
9: 88,839,516 (GRCm39) |
G138A |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,957,830 (GRCm39) |
L617P |
probably damaging |
Het |
| Ccdc25 |
T |
A |
14: 66,091,561 (GRCm39) |
I60K |
possibly damaging |
Het |
| Cdk1 |
T |
C |
10: 69,180,907 (GRCm39) |
D101G |
probably benign |
Het |
| Cdon |
A |
G |
9: 35,400,523 (GRCm39) |
H1079R |
probably benign |
Het |
| Cep126 |
A |
T |
9: 8,130,183 (GRCm39) |
|
probably benign |
Het |
| Cic |
T |
A |
7: 24,986,565 (GRCm39) |
S1299T |
probably damaging |
Het |
| Cic |
C |
A |
7: 24,986,566 (GRCm39) |
S1299Y |
probably damaging |
Het |
| Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
| Crlf3 |
A |
G |
11: 79,948,728 (GRCm39) |
I239T |
possibly damaging |
Het |
| Cstf2t |
T |
A |
19: 31,060,699 (GRCm39) |
N78K |
probably damaging |
Het |
| Cul1 |
A |
G |
6: 47,479,349 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
T |
G |
2: 104,079,502 (GRCm39) |
T1194P |
probably damaging |
Het |
| Fbp2 |
A |
T |
13: 63,001,862 (GRCm39) |
F118I |
probably damaging |
Het |
| Fbxw14 |
A |
T |
9: 109,116,660 (GRCm39) |
Y16* |
probably null |
Het |
| Gm7168 |
C |
T |
17: 14,170,121 (GRCm39) |
T496I |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Klhl5 |
T |
A |
5: 65,298,631 (GRCm39) |
S137T |
probably benign |
Het |
| Knl1 |
T |
A |
2: 118,906,724 (GRCm39) |
N1604K |
probably benign |
Het |
| Lpcat1 |
T |
A |
13: 73,662,585 (GRCm39) |
N463K |
probably damaging |
Het |
| Lpl |
A |
G |
8: 69,345,356 (GRCm39) |
H120R |
probably damaging |
Het |
| Man1a2 |
A |
T |
3: 100,499,199 (GRCm39) |
S412T |
possibly damaging |
Het |
| Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
G |
T |
11: 77,738,170 (GRCm39) |
R1704L |
probably damaging |
Het |
| Nlrc3 |
G |
T |
16: 3,781,951 (GRCm39) |
T486K |
possibly damaging |
Het |
| Nrip1 |
T |
A |
16: 76,091,558 (GRCm39) |
|
probably benign |
Het |
| Nutf2 |
A |
G |
8: 106,605,441 (GRCm39) |
D92G |
probably damaging |
Het |
| Obscn |
A |
C |
11: 58,918,292 (GRCm39) |
V6260G |
probably damaging |
Het |
| Or10a2 |
T |
C |
7: 106,673,487 (GRCm39) |
F151L |
probably benign |
Het |
| Or2ak7 |
G |
A |
11: 58,575,301 (GRCm39) |
V201M |
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,769,228 (GRCm39) |
|
probably null |
Het |
| Pmpca |
C |
A |
2: 26,285,519 (GRCm39) |
D498E |
probably benign |
Het |
| Pnpla7 |
G |
T |
2: 24,887,239 (GRCm39) |
E28* |
probably null |
Het |
| Polg |
C |
A |
7: 79,111,632 (GRCm39) |
W206C |
probably damaging |
Het |
| Ptprt |
C |
T |
2: 161,769,711 (GRCm39) |
|
probably benign |
Het |
| Slc7a14 |
T |
C |
3: 31,281,209 (GRCm39) |
D367G |
probably damaging |
Het |
| Spata31 |
T |
C |
13: 65,069,912 (GRCm39) |
Y687H |
probably damaging |
Het |
| Sybu |
T |
A |
15: 44,536,389 (GRCm39) |
T646S |
probably benign |
Het |
| Thbs1 |
A |
T |
2: 117,954,395 (GRCm39) |
|
probably null |
Het |
| Tie1 |
A |
G |
4: 118,346,898 (GRCm39) |
V2A |
possibly damaging |
Het |
| Tma16 |
A |
T |
8: 66,929,457 (GRCm39) |
I179K |
possibly damaging |
Het |
| Tns3 |
G |
A |
11: 8,385,856 (GRCm39) |
Q1381* |
probably null |
Het |
| Trank1 |
A |
G |
9: 111,172,263 (GRCm39) |
D84G |
probably damaging |
Het |
| Ttc3 |
A |
T |
16: 94,223,106 (GRCm39) |
H197L |
possibly damaging |
Het |
| Urb1 |
A |
G |
16: 90,576,028 (GRCm39) |
F843L |
probably benign |
Het |
| Vmn1r24 |
T |
G |
6: 57,933,003 (GRCm39) |
I172L |
probably benign |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,209 (GRCm39) |
I690N |
possibly damaging |
Het |
| Vmn2r111 |
T |
A |
17: 22,791,053 (GRCm39) |
I82L |
probably benign |
Het |
| Zfp287 |
A |
T |
11: 62,605,764 (GRCm39) |
L370H |
possibly damaging |
Het |
| Zfp608 |
A |
T |
18: 55,031,888 (GRCm39) |
I684N |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTTACCCAGCACACATCTCCAG -3'
(R):5'- AAGCTTCAAGCCCTTCCCATCG -3'
Sequencing Primer
(F):5'- GCACTGCCCATGTACCC -3'
(R):5'- GCTCATAGCAGCTCAGCC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation