Incidental Mutation 'R8547:Fgd2'
| ID |
659714 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgd2
|
| Ensembl Gene |
ENSMUSG00000024013 |
| Gene Name |
FYVE, RhoGEF and PH domain containing 2 |
| Synonyms |
tcs2, Tcd-2, Tcd2, tcs-2 |
| MMRRC Submission |
068512-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.235)
|
| Stock # |
R8547 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
29579878-29598509 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 29583934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 116
(A116V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024810]
[ENSMUST00000123989]
|
| AlphaFold |
Q8BY35 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024810
AA Change: A116V
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000024810
Gene: ENSMUSG00000024013
AA Change: A116V
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
106 |
289 |
4.49e-66 |
SMART |
|
PH
|
320 |
420 |
2.09e-16 |
SMART |
|
FYVE
|
450 |
519 |
1.07e-28 |
SMART |
|
PH
|
545 |
643 |
5.09e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123989
AA Change: A116V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118828
Gene: ENSMUSG00000024013
AA Change: A116V
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
106 |
289 |
4.49e-66 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of guanine nucleotide exchange factors (GEFs) which control cytoskeleton-dependent membrane rearrangements by activating the cell division cycle 42 (CDC42) protein. This gene is expressed in B lymphocytes, macrophages, and dendritic cells. The encoded protein may play a role in leukocyte signaling and vesicle trafficking in antigen-presenting cells in the immune system. [provided by RefSeq, Oct 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
C |
17: 24,616,474 (GRCm39) |
V972A |
probably benign |
Het |
| Adamts14 |
T |
G |
10: 61,106,998 (GRCm39) |
T41P |
probably damaging |
Het |
| Adamtsl3 |
C |
T |
7: 82,077,621 (GRCm39) |
T102I |
probably damaging |
Het |
| Ago3 |
T |
C |
4: 126,264,109 (GRCm39) |
I366V |
probably null |
Het |
| Aldh1a7 |
A |
G |
19: 20,692,067 (GRCm39) |
V242A |
possibly damaging |
Het |
| Asxl3 |
T |
C |
18: 22,655,829 (GRCm39) |
S1280P |
probably benign |
Het |
| Caprin1 |
G |
T |
2: 103,599,862 (GRCm39) |
N604K |
probably damaging |
Het |
| Catsperb |
T |
C |
12: 101,412,305 (GRCm39) |
W131R |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,345,725 (GRCm39) |
E957G |
probably damaging |
Het |
| Ccn6 |
T |
A |
10: 39,027,194 (GRCm39) |
D346V |
probably damaging |
Het |
| Cd28 |
G |
A |
1: 60,785,681 (GRCm39) |
V17I |
probably benign |
Het |
| Cfl2 |
A |
T |
12: 54,908,398 (GRCm39) |
L75* |
probably null |
Het |
| Clspn |
T |
A |
4: 126,455,609 (GRCm39) |
L45H |
probably damaging |
Het |
| Col4a2 |
A |
G |
8: 11,479,305 (GRCm39) |
|
probably null |
Het |
| Cracd |
GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG |
GCGCGAGGCCGAGAGGCAGG |
5: 77,004,801 (GRCm39) |
|
probably benign |
Het |
| Dgka |
A |
T |
10: 128,556,881 (GRCm39) |
I663N |
probably damaging |
Het |
| Eppk1 |
C |
T |
15: 75,993,249 (GRCm39) |
V1211I |
probably benign |
Het |
| Fam193b |
A |
G |
13: 55,698,117 (GRCm39) |
S280P |
probably damaging |
Het |
| Fmo5 |
C |
A |
3: 97,558,811 (GRCm39) |
Q424K |
probably benign |
Het |
| Fn3k |
T |
C |
11: 121,340,987 (GRCm39) |
L214P |
probably damaging |
Het |
| Gm3404 |
A |
T |
5: 146,465,108 (GRCm39) |
R283W |
possibly damaging |
Het |
| Gtdc1 |
A |
G |
2: 44,678,993 (GRCm39) |
|
probably benign |
Het |
| Hepacam |
T |
C |
9: 37,279,049 (GRCm39) |
I26T |
probably benign |
Het |
| Hltf |
T |
C |
3: 20,152,291 (GRCm39) |
F596L |
probably damaging |
Het |
| Ipo7 |
T |
G |
7: 109,652,000 (GRCm39) |
D926E |
probably benign |
Het |
| Krt16 |
G |
A |
11: 100,137,083 (GRCm39) |
Q463* |
probably null |
Het |
| Lats1 |
T |
C |
10: 7,588,613 (GRCm39) |
F1077L |
probably damaging |
Het |
| Lrrc69 |
T |
C |
4: 14,704,014 (GRCm39) |
I269V |
probably benign |
Het |
| Mcm6 |
C |
T |
1: 128,273,685 (GRCm39) |
E382K |
possibly damaging |
Het |
| Npbwr1 |
A |
T |
1: 5,987,446 (GRCm39) |
C23S |
possibly damaging |
Het |
| Nsd3 |
T |
C |
8: 26,184,811 (GRCm39) |
C962R |
probably damaging |
Het |
| Nufip2 |
T |
C |
11: 77,583,391 (GRCm39) |
L435P |
probably damaging |
Het |
| Or10d4c |
C |
T |
9: 39,558,798 (GRCm39) |
Q259* |
probably null |
Het |
| Or1e23 |
T |
C |
11: 73,407,440 (GRCm39) |
N195S |
probably damaging |
Het |
| Potegl |
A |
T |
2: 23,120,135 (GRCm39) |
Y177F |
probably damaging |
Het |
| Psen1 |
T |
C |
12: 83,761,630 (GRCm39) |
V144A |
possibly damaging |
Het |
| Psmg2 |
T |
A |
18: 67,779,077 (GRCm39) |
S82T |
possibly damaging |
Het |
| Ptcd2 |
A |
C |
13: 99,469,462 (GRCm39) |
F154V |
probably damaging |
Het |
| Ptchd4 |
A |
C |
17: 42,813,512 (GRCm39) |
D471A |
probably benign |
Het |
| Robo4 |
C |
T |
9: 37,315,674 (GRCm39) |
T309I |
possibly damaging |
Het |
| Runx3 |
T |
C |
4: 134,898,455 (GRCm39) |
F209L |
probably damaging |
Het |
| Setd1a |
T |
C |
7: 127,395,676 (GRCm39) |
|
probably benign |
Het |
| Slc35g3 |
T |
C |
11: 69,652,446 (GRCm39) |
E22G |
probably benign |
Het |
| Spag9 |
T |
A |
11: 94,013,647 (GRCm39) |
M1303K |
possibly damaging |
Het |
| Ssh2 |
T |
A |
11: 77,340,533 (GRCm39) |
S562T |
probably benign |
Het |
| Tiparp |
T |
C |
3: 65,453,798 (GRCm39) |
|
probably null |
Het |
| Topbp1 |
C |
T |
9: 103,213,264 (GRCm39) |
P1028L |
probably benign |
Het |
| Unc45a |
A |
T |
7: 79,975,840 (GRCm39) |
L833Q |
possibly damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,261,311 (GRCm39) |
Y342C |
probably damaging |
Het |
| Vmn2r95 |
G |
A |
17: 18,664,161 (GRCm39) |
C460Y |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,852,848 (GRCm39) |
I2376N |
probably damaging |
Het |
| Zbtb21 |
C |
A |
16: 97,753,315 (GRCm39) |
A351S |
possibly damaging |
Het |
| Zzef1 |
T |
G |
11: 72,735,267 (GRCm39) |
Y623D |
probably damaging |
Het |
|
| Other mutations in Fgd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01397:Fgd2
|
APN |
17 |
29,586,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01505:Fgd2
|
APN |
17 |
29,585,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03240:Fgd2
|
APN |
17 |
29,580,135 (GRCm39) |
splice site |
probably benign |
|
|
ceci
|
UTSW |
17 |
29,587,350 (GRCm39) |
splice site |
probably null |
|
|
R0046:Fgd2
|
UTSW |
17 |
29,593,964 (GRCm39) |
splice site |
probably benign |
|
|
R0271:Fgd2
|
UTSW |
17 |
29,585,982 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0594:Fgd2
|
UTSW |
17 |
29,584,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0612:Fgd2
|
UTSW |
17 |
29,597,321 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1470:Fgd2
|
UTSW |
17 |
29,593,082 (GRCm39) |
splice site |
probably benign |
|
|
R1551:Fgd2
|
UTSW |
17 |
29,597,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1596:Fgd2
|
UTSW |
17 |
29,595,904 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1664:Fgd2
|
UTSW |
17 |
29,588,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1689:Fgd2
|
UTSW |
17 |
29,582,696 (GRCm39) |
missense |
probably benign |
|
|
R1691:Fgd2
|
UTSW |
17 |
29,597,918 (GRCm39) |
nonsense |
probably null |
|
|
R1695:Fgd2
|
UTSW |
17 |
29,587,219 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2697:Fgd2
|
UTSW |
17 |
29,595,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3500:Fgd2
|
UTSW |
17 |
29,584,575 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R3689:Fgd2
|
UTSW |
17 |
29,597,924 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4583:Fgd2
|
UTSW |
17 |
29,586,052 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4871:Fgd2
|
UTSW |
17 |
29,592,223 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5011:Fgd2
|
UTSW |
17 |
29,593,954 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5209:Fgd2
|
UTSW |
17 |
29,587,350 (GRCm39) |
splice site |
probably null |
|
|
R7106:Fgd2
|
UTSW |
17 |
29,595,944 (GRCm39) |
nonsense |
probably null |
|
|
R7139:Fgd2
|
UTSW |
17 |
29,592,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7712:Fgd2
|
UTSW |
17 |
29,595,886 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7833:Fgd2
|
UTSW |
17 |
29,586,369 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7834:Fgd2
|
UTSW |
17 |
29,583,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7913:Fgd2
|
UTSW |
17 |
29,593,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8686:Fgd2
|
UTSW |
17 |
29,597,997 (GRCm39) |
missense |
probably benign |
|
|
R9088:Fgd2
|
UTSW |
17 |
29,583,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9525:Fgd2
|
UTSW |
17 |
29,583,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9601:Fgd2
|
UTSW |
17 |
29,593,860 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1177:Fgd2
|
UTSW |
17 |
29,597,300 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTATGAAAGCTGGTCCAGTG -3'
(R):5'- CAAACGAGGCTGCCATGTATG -3'
Sequencing Primer
(F):5'- AAAGCTGGTCCAGTGCCAGAC -3'
(R):5'- CATGTATGAGGCTGGCCAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation