Incidental Mutation 'R3689:Fgd2'
| ID |
269693 |
| 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 |
040684-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.235)
|
| Stock # |
R3689 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
29579878-29598509 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29597924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 620
(T620A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024810]
[ENSMUST00000123989]
|
| AlphaFold |
Q8BY35 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024810
AA Change: T620A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000024810
Gene: ENSMUSG00000024013
AA Change: T620A
| 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
|
| Meta Mutation Damage Score |
0.0738 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (53/53) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
A |
T |
13: 68,779,088 (GRCm39) |
L984Q |
probably damaging |
Het |
| Atg16l1 |
T |
C |
1: 87,713,626 (GRCm39) |
V427A |
probably damaging |
Het |
| Bclaf1 |
C |
T |
10: 20,201,143 (GRCm39) |
T423I |
possibly damaging |
Het |
| Blm |
G |
C |
7: 80,162,827 (GRCm39) |
P175A |
possibly damaging |
Het |
| Bpifb1 |
A |
G |
2: 154,051,819 (GRCm39) |
D208G |
probably benign |
Het |
| Cdc42ep1 |
T |
C |
15: 78,731,629 (GRCm39) |
S25P |
probably benign |
Het |
| Cep162 |
G |
A |
9: 87,107,747 (GRCm39) |
Q548* |
probably null |
Het |
| Chchd10 |
T |
C |
10: 75,771,835 (GRCm39) |
|
probably benign |
Het |
| Cog3 |
T |
C |
14: 75,991,878 (GRCm39) |
M1V |
probably null |
Het |
| Dcx |
T |
C |
X: 142,660,240 (GRCm39) |
E268G |
possibly damaging |
Het |
| Erich2 |
T |
C |
2: 70,371,097 (GRCm39) |
V419A |
unknown |
Het |
| Fam53c |
A |
G |
18: 34,903,886 (GRCm39) |
D386G |
probably damaging |
Het |
| G930045G22Rik |
A |
T |
6: 50,823,535 (GRCm39) |
|
noncoding transcript |
Het |
| Grpel1 |
G |
A |
5: 36,626,769 (GRCm39) |
|
probably null |
Het |
| Map3k15 |
T |
A |
X: 158,905,568 (GRCm39) |
N1295K |
possibly damaging |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Mrpl44 |
T |
A |
1: 79,757,366 (GRCm39) |
Y270* |
probably null |
Het |
| Mtss1 |
A |
G |
15: 58,825,385 (GRCm39) |
S272P |
probably damaging |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| N4bp1 |
C |
T |
8: 87,587,184 (GRCm39) |
D585N |
probably damaging |
Het |
| Napb |
T |
C |
2: 148,544,977 (GRCm39) |
|
probably null |
Het |
| Nexmif |
A |
T |
X: 103,131,213 (GRCm39) |
Y235N |
probably damaging |
Het |
| Niban1 |
A |
G |
1: 151,579,447 (GRCm39) |
|
probably null |
Het |
| Nms |
T |
C |
1: 38,986,075 (GRCm39) |
|
probably benign |
Het |
| Nsun2 |
A |
G |
13: 69,760,456 (GRCm39) |
N45D |
probably damaging |
Het |
| Or4c116 |
T |
A |
2: 88,942,386 (GRCm39) |
I157L |
possibly damaging |
Het |
| Pak6 |
C |
T |
2: 118,523,921 (GRCm39) |
Q359* |
probably null |
Het |
| Pcdhb12 |
C |
T |
18: 37,569,127 (GRCm39) |
A91V |
probably benign |
Het |
| Pde11a |
T |
A |
2: 76,121,510 (GRCm39) |
K357I |
probably damaging |
Het |
| Piwil4 |
T |
C |
9: 14,637,259 (GRCm39) |
T352A |
probably damaging |
Het |
| Plscr1l1 |
A |
C |
9: 92,234,673 (GRCm39) |
N60T |
probably damaging |
Het |
| Sec31a |
T |
A |
5: 100,530,766 (GRCm39) |
D239V |
probably damaging |
Het |
| Slc13a4 |
T |
C |
6: 35,245,845 (GRCm39) |
N600S |
possibly damaging |
Het |
| Smc1b |
T |
A |
15: 85,001,464 (GRCm39) |
|
probably benign |
Het |
| Spatc1 |
A |
T |
15: 76,152,495 (GRCm39) |
K42* |
probably null |
Het |
| Sprr2j-ps |
A |
G |
3: 92,326,290 (GRCm39) |
H55R |
probably benign |
Het |
| Srsf9 |
A |
G |
5: 115,465,387 (GRCm39) |
D7G |
probably benign |
Het |
| Stt3a |
T |
C |
9: 36,670,618 (GRCm39) |
Y51C |
probably damaging |
Het |
| Taf5 |
A |
G |
19: 47,067,224 (GRCm39) |
K519E |
probably damaging |
Het |
| Taf7l |
A |
T |
X: 133,365,074 (GRCm39) |
I449K |
probably damaging |
Het |
| Tnk1 |
C |
A |
11: 69,746,425 (GRCm39) |
D263Y |
probably damaging |
Het |
| Ttc21b |
T |
A |
2: 66,054,488 (GRCm39) |
I714F |
probably benign |
Het |
| Ttn |
C |
G |
2: 76,629,588 (GRCm39) |
W14284C |
probably damaging |
Het |
| Txn1 |
T |
C |
4: 57,950,846 (GRCm39) |
D61G |
probably benign |
Het |
| Ugcg |
T |
C |
4: 59,211,883 (GRCm39) |
V83A |
probably benign |
Het |
| Ulk3 |
T |
C |
9: 57,501,077 (GRCm39) |
V348A |
probably benign |
Het |
| Wdr93 |
A |
G |
7: 79,421,333 (GRCm39) |
T409A |
possibly damaging |
Het |
| Wfikkn1 |
A |
G |
17: 26,097,692 (GRCm39) |
C211R |
probably damaging |
Het |
| Zap70 |
T |
C |
1: 36,820,493 (GRCm39) |
C563R |
probably damaging |
Het |
| Zc3h12c |
C |
T |
9: 52,027,256 (GRCm39) |
R721H |
probably benign |
Het |
| Zfp169 |
A |
G |
13: 48,660,377 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R8547:Fgd2
|
UTSW |
17 |
29,583,934 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- CATATATGTCTGTCAGGAGCAGCAG -3'
(R):5'- TATAGACATCAGGTGGGTCAGG -3'
Sequencing Primer
(F):5'- TCAGGAGCAGCAGGACTAAATTG -3'
(R):5'- CCAGCTTGGGGTGAAGTGATAG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation