Incidental Mutation 'IGL01397:Fgd2'
| ID |
79498 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fgd2
|
| Ensembl Gene |
ENSMUSG00000024013 |
| Gene Name |
FYVE, RhoGEF and PH domain containing 2 |
| Synonyms |
tcs2, Tcd-2, Tcd2, tcs-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.235)
|
| Stock # |
IGL01397
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
29579878-29598509 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29586949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 293
(E293G)
|
| 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: E293G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000024810
Gene: ENSMUSG00000024013
AA Change: E293G
| 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: E293G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118828
Gene: ENSMUSG00000024013
AA Change: E293G
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
106 |
289 |
4.49e-66 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137644
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138537
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140918
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145124
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146800
|
| Coding Region Coverage |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
A |
C |
2: 127,876,811 (GRCm39) |
T436P |
possibly damaging |
Het |
| Afap1 |
T |
A |
5: 36,126,052 (GRCm39) |
V349E |
probably damaging |
Het |
| Arfgef1 |
C |
T |
1: 10,229,796 (GRCm39) |
V1302I |
probably benign |
Het |
| Atp11a |
T |
A |
8: 12,862,321 (GRCm39) |
W58R |
probably damaging |
Het |
| Brpf3 |
A |
T |
17: 29,036,606 (GRCm39) |
K670N |
probably benign |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Cenpp |
T |
C |
13: 49,794,759 (GRCm39) |
D136G |
probably damaging |
Het |
| Cep85 |
T |
C |
4: 133,883,517 (GRCm39) |
E124G |
probably damaging |
Het |
| Crybb3 |
T |
C |
5: 113,227,701 (GRCm39) |
E40G |
probably damaging |
Het |
| Dennd2d |
G |
T |
3: 106,394,365 (GRCm39) |
|
probably null |
Het |
| Dhx34 |
A |
G |
7: 15,944,468 (GRCm39) |
L582P |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,296,825 (GRCm39) |
K5738R |
probably damaging |
Het |
| Eif4g1 |
T |
A |
16: 20,498,425 (GRCm39) |
L328Q |
probably damaging |
Het |
| Eya4 |
T |
C |
10: 23,015,897 (GRCm39) |
K357E |
probably benign |
Het |
| F8 |
A |
G |
X: 74,423,145 (GRCm39) |
S25P |
probably benign |
Het |
| Foxi1 |
T |
A |
11: 34,157,599 (GRCm39) |
Q142L |
probably damaging |
Het |
| Gfm1 |
A |
G |
3: 67,350,991 (GRCm39) |
E316G |
probably benign |
Het |
| Glb1l3 |
C |
T |
9: 26,736,491 (GRCm39) |
D524N |
probably benign |
Het |
| Heatr5a |
A |
T |
12: 51,941,152 (GRCm39) |
V1366D |
possibly damaging |
Het |
| Idh1 |
T |
C |
1: 65,207,754 (GRCm39) |
T142A |
possibly damaging |
Het |
| Lamc1 |
C |
A |
1: 153,126,880 (GRCm39) |
G422V |
probably damaging |
Het |
| Lars1 |
A |
T |
18: 42,361,094 (GRCm39) |
H691Q |
probably damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,837,042 (GRCm39) |
Y1259C |
probably damaging |
Het |
| Muc19 |
T |
A |
15: 91,778,498 (GRCm39) |
|
noncoding transcript |
Het |
| Nphs1 |
A |
G |
7: 30,186,089 (GRCm39) |
D1240G |
probably benign |
Het |
| Or3a1b |
T |
A |
11: 74,012,590 (GRCm39) |
N158K |
probably damaging |
Het |
| Or5w1 |
A |
T |
2: 87,487,249 (GRCm39) |
N5K |
probably damaging |
Het |
| Pabir2 |
G |
A |
X: 52,349,088 (GRCm39) |
T121I |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,679,098 (GRCm39) |
N290S |
probably benign |
Het |
| Pex5l |
G |
A |
3: 33,006,746 (GRCm39) |
T541I |
probably damaging |
Het |
| Plch1 |
A |
C |
3: 63,639,150 (GRCm39) |
|
probably null |
Het |
| Ppp4r3b |
C |
T |
11: 29,163,594 (GRCm39) |
A722V |
probably benign |
Het |
| Ptges3 |
T |
C |
10: 127,906,069 (GRCm39) |
S85P |
probably benign |
Het |
| R3hdm2 |
C |
T |
10: 127,294,719 (GRCm39) |
R201W |
probably damaging |
Het |
| Rcan2 |
C |
A |
17: 44,147,359 (GRCm39) |
Q66K |
possibly damaging |
Het |
| Skint4 |
A |
G |
4: 111,977,207 (GRCm39) |
N199S |
possibly damaging |
Het |
| Smc4 |
A |
G |
3: 68,938,877 (GRCm39) |
T951A |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,762,444 (GRCm39) |
|
probably benign |
Het |
| Snx30 |
T |
C |
4: 59,894,526 (GRCm39) |
V368A |
probably benign |
Het |
| Spata31d1a |
C |
T |
13: 59,849,552 (GRCm39) |
A859T |
probably damaging |
Het |
| Tg |
G |
A |
15: 66,567,941 (GRCm39) |
|
probably benign |
Het |
| Tmem132b |
T |
C |
5: 125,775,792 (GRCm39) |
V422A |
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,933,647 (GRCm39) |
S2356P |
probably damaging |
Het |
| Vmn1r122 |
A |
G |
7: 20,867,707 (GRCm39) |
V116A |
possibly damaging |
Het |
| Washc2 |
A |
G |
6: 116,224,959 (GRCm39) |
D683G |
probably benign |
Het |
| Wdr35 |
C |
A |
12: 9,058,550 (GRCm39) |
T580K |
probably benign |
Het |
| Wwc2 |
T |
A |
8: 48,321,311 (GRCm39) |
N601I |
unknown |
Het |
|
| Other mutations in Fgd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-11-05 |
Incidental Mutation