Incidental Mutation 'R2697:Fgd2'
| ID |
251242 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgd2
|
| Ensembl Gene |
ENSMUSG00000024013 |
| Gene Name |
FYVE, RhoGEF and PH domain containing 2 |
| Synonyms |
Tcd-2, tcs2, Tcd2, tcs-2 |
| MMRRC Submission |
040435-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.181)
|
| Stock # |
R2697 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
29360914-29379660 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29376921 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 518
(T518S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024810]
[ENSMUST00000123989]
|
| AlphaFold |
Q8BY35 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024810
AA Change: T518S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024810
Gene: ENSMUSG00000024013
AA Change: T518S
| 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 benign
Transcript: ENSMUST00000123989
|
| SMART Domains |
Protein: ENSMUSP00000118828
Gene: ENSMUSG00000024013
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
106 |
289 |
4.49e-66 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137644
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140918
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144616
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630073D07Rik |
T |
C |
6: 132,626,656 (GRCm38) |
S46G |
unknown |
Het |
| Acaca |
T |
A |
11: 84,364,413 (GRCm38) |
D1932E |
probably damaging |
Het |
| Adam7 |
A |
T |
14: 68,514,783 (GRCm38) |
C417* |
probably null |
Het |
| Adgrl4 |
A |
C |
3: 151,510,623 (GRCm38) |
Q481P |
probably damaging |
Het |
| Adra2c |
C |
A |
5: 35,280,698 (GRCm38) |
N271K |
probably benign |
Het |
| Ahctf1 |
T |
C |
1: 179,752,532 (GRCm38) |
K2035R |
probably damaging |
Het |
| Ano3 |
T |
C |
2: 110,794,960 (GRCm38) |
T182A |
possibly damaging |
Het |
| Armc3 |
T |
C |
2: 19,303,935 (GRCm38) |
Y805H |
probably damaging |
Het |
| BC024139 |
TCCACCACCACCACCACCAC |
TCCACCACCACCACCAC |
15: 76,120,193 (GRCm38) |
|
probably benign |
Het |
| Cabp7 |
C |
T |
11: 4,738,837 (GRCm38) |
R211H |
probably damaging |
Het |
| Ccdc117 |
T |
C |
11: 5,534,888 (GRCm38) |
N112S |
possibly damaging |
Het |
| Cep120 |
C |
T |
18: 53,740,125 (GRCm38) |
D45N |
probably benign |
Het |
| Cpsf1 |
T |
C |
15: 76,599,329 (GRCm38) |
Y872C |
probably damaging |
Het |
| Cradd |
A |
G |
10: 95,175,945 (GRCm38) |
L111P |
probably damaging |
Het |
| Crhr2 |
A |
G |
6: 55,102,830 (GRCm38) |
L155P |
probably damaging |
Het |
| Fam46a |
T |
C |
9: 85,324,740 (GRCm38) |
D335G |
possibly damaging |
Het |
| Gm340 |
T |
A |
19: 41,584,027 (GRCm38) |
V407E |
probably benign |
Het |
| Gpam |
C |
T |
19: 55,083,209 (GRCm38) |
E367K |
probably damaging |
Het |
| Gtf3c1 |
T |
A |
7: 125,643,954 (GRCm38) |
N1826I |
probably damaging |
Het |
| Kcnq5 |
T |
C |
1: 21,479,432 (GRCm38) |
E357G |
probably damaging |
Het |
| Krt1 |
T |
A |
15: 101,846,929 (GRCm38) |
D465V |
probably damaging |
Het |
| Macrod1 |
T |
C |
19: 7,196,792 (GRCm38) |
V221A |
probably damaging |
Het |
| Mbd1 |
T |
C |
18: 74,273,617 (GRCm38) |
S144P |
possibly damaging |
Het |
| Mtfmt |
T |
C |
9: 65,452,021 (GRCm38) |
V326A |
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,863,358 (GRCm38) |
D71G |
probably benign |
Het |
| Myo1h |
A |
G |
5: 114,355,213 (GRCm38) |
Y705C |
probably damaging |
Het |
| Nudt9 |
T |
C |
5: 104,064,993 (GRCm38) |
W311R |
probably damaging |
Het |
| Olfr132 |
A |
G |
17: 38,131,009 (GRCm38) |
F61S |
probably damaging |
Het |
| Olfr47 |
A |
T |
6: 43,236,126 (GRCm38) |
I173F |
probably damaging |
Het |
| Olfr743 |
C |
T |
14: 50,533,781 (GRCm38) |
A123V |
probably damaging |
Het |
| Olfr808 |
G |
A |
10: 129,767,924 (GRCm38) |
V143I |
probably benign |
Het |
| Osbp2 |
A |
T |
11: 3,863,407 (GRCm38) |
L154Q |
probably benign |
Het |
| P3h1 |
A |
G |
4: 119,247,180 (GRCm38) |
T633A |
probably damaging |
Het |
| Polq |
T |
G |
16: 37,042,153 (GRCm38) |
L616R |
probably damaging |
Het |
| Pon3 |
A |
G |
6: 5,232,429 (GRCm38) |
L197S |
possibly damaging |
Het |
| Rap1gds1 |
C |
T |
3: 138,983,721 (GRCm38) |
|
probably null |
Het |
| Rbp3 |
C |
T |
14: 33,956,018 (GRCm38) |
T641M |
probably damaging |
Het |
| Rfng |
C |
A |
11: 120,784,039 (GRCm38) |
|
probably benign |
Het |
| Rps6ka2 |
T |
G |
17: 7,300,322 (GRCm38) |
L728R |
probably benign |
Het |
| Slc41a3 |
C |
A |
6: 90,642,320 (GRCm38) |
N360K |
possibly damaging |
Het |
| Sult1e1 |
T |
C |
5: 87,578,538 (GRCm38) |
N239S |
probably damaging |
Het |
| Tacr1 |
T |
A |
6: 82,492,597 (GRCm38) |
I154N |
probably damaging |
Het |
| Tacstd2 |
T |
A |
6: 67,535,219 (GRCm38) |
H163L |
probably benign |
Het |
| Tiam1 |
T |
C |
16: 89,793,164 (GRCm38) |
S1382G |
probably benign |
Het |
| Tmem43 |
A |
G |
6: 91,479,929 (GRCm38) |
E164G |
possibly damaging |
Het |
| U2af2 |
G |
A |
7: 5,067,546 (GRCm38) |
R78H |
probably benign |
Het |
| Yipf7 |
T |
A |
5: 69,541,140 (GRCm38) |
D8V |
possibly damaging |
Het |
| Zfp58 |
G |
A |
13: 67,491,005 (GRCm38) |
H456Y |
probably damaging |
Het |
| Zfp799 |
G |
A |
17: 32,820,240 (GRCm38) |
R351* |
probably null |
Het |
| Zfyve9 |
T |
C |
4: 108,695,819 (GRCm38) |
D715G |
probably damaging |
Het |
|
| Other mutations in Fgd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01397:Fgd2
|
APN |
17 |
29,367,975 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01505:Fgd2
|
APN |
17 |
29,366,997 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03240:Fgd2
|
APN |
17 |
29,361,161 (GRCm38) |
splice site |
probably benign |
|
|
ceci
|
UTSW |
17 |
29,368,376 (GRCm38) |
splice site |
probably null |
|
|
R0046:Fgd2
|
UTSW |
17 |
29,374,990 (GRCm38) |
splice site |
probably benign |
|
|
R0271:Fgd2
|
UTSW |
17 |
29,367,008 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0594:Fgd2
|
UTSW |
17 |
29,365,552 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0612:Fgd2
|
UTSW |
17 |
29,378,347 (GRCm38) |
missense |
probably benign |
0.45 |
|
R1470:Fgd2
|
UTSW |
17 |
29,374,108 (GRCm38) |
splice site |
probably benign |
|
|
R1551:Fgd2
|
UTSW |
17 |
29,378,409 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1596:Fgd2
|
UTSW |
17 |
29,376,930 (GRCm38) |
missense |
probably benign |
0.43 |
|
R1664:Fgd2
|
UTSW |
17 |
29,369,299 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1689:Fgd2
|
UTSW |
17 |
29,363,722 (GRCm38) |
missense |
probably benign |
|
|
R1691:Fgd2
|
UTSW |
17 |
29,378,944 (GRCm38) |
nonsense |
probably null |
|
|
R1695:Fgd2
|
UTSW |
17 |
29,368,245 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R3500:Fgd2
|
UTSW |
17 |
29,365,601 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R3689:Fgd2
|
UTSW |
17 |
29,378,950 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4583:Fgd2
|
UTSW |
17 |
29,367,078 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R4871:Fgd2
|
UTSW |
17 |
29,373,249 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5011:Fgd2
|
UTSW |
17 |
29,374,980 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5209:Fgd2
|
UTSW |
17 |
29,368,376 (GRCm38) |
splice site |
probably null |
|
|
R7106:Fgd2
|
UTSW |
17 |
29,376,970 (GRCm38) |
nonsense |
probably null |
|
|
R7139:Fgd2
|
UTSW |
17 |
29,373,255 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7712:Fgd2
|
UTSW |
17 |
29,376,912 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7833:Fgd2
|
UTSW |
17 |
29,367,395 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R7834:Fgd2
|
UTSW |
17 |
29,364,951 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7913:Fgd2
|
UTSW |
17 |
29,374,045 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8547:Fgd2
|
UTSW |
17 |
29,364,960 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8686:Fgd2
|
UTSW |
17 |
29,379,023 (GRCm38) |
missense |
probably benign |
|
|
R9088:Fgd2
|
UTSW |
17 |
29,364,939 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9525:Fgd2
|
UTSW |
17 |
29,364,981 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9601:Fgd2
|
UTSW |
17 |
29,374,886 (GRCm38) |
missense |
probably benign |
0.09 |
|
Z1177:Fgd2
|
UTSW |
17 |
29,378,326 (GRCm38) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCCATGTAAGAGGCTCATG -3'
(R):5'- TAGCCTGCAGTCCATAGCTC -3'
Sequencing Primer
(F):5'- TAGGTGGGGCCATGCAG -3'
(R):5'- CAGGTGGATTTCTAAATTCCAGGCC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation