Incidental Mutation 'IGL03240:Fgd2'
ID |
414267 |
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 # |
IGL03240
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
29579878-29598509 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 29580135 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118828
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024810]
[ENSMUST00000123989]
|
AlphaFold |
Q8BY35 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024810
|
SMART Domains |
Protein: ENSMUSP00000024810 Gene: ENSMUSG00000024013
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: ENSMUST00000138537
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003H04Rik |
T |
C |
3: 124,350,365 (GRCm39) |
|
probably benign |
Het |
AA467197 |
A |
G |
2: 122,481,182 (GRCm39) |
T57A |
probably benign |
Het |
Akap11 |
A |
T |
14: 78,733,345 (GRCm39) |
D1852E |
probably damaging |
Het |
Arg2 |
T |
A |
12: 79,178,605 (GRCm39) |
|
probably null |
Het |
Arhgef4 |
A |
G |
1: 34,845,107 (GRCm39) |
D1437G |
probably benign |
Het |
AW551984 |
C |
A |
9: 39,500,418 (GRCm39) |
R780L |
probably benign |
Het |
Baz1a |
T |
A |
12: 54,974,352 (GRCm39) |
K503* |
probably null |
Het |
Bltp3a |
C |
A |
17: 28,112,227 (GRCm39) |
N1167K |
probably benign |
Het |
Cdk2ap1 |
A |
T |
5: 124,484,207 (GRCm39) |
H96Q |
probably damaging |
Het |
Col11a1 |
T |
A |
3: 114,010,859 (GRCm39) |
|
probably null |
Het |
Col12a1 |
A |
T |
9: 79,585,665 (GRCm39) |
|
probably null |
Het |
Col22a1 |
G |
A |
15: 71,679,777 (GRCm39) |
P877S |
unknown |
Het |
Col7a1 |
A |
T |
9: 108,797,441 (GRCm39) |
N1681Y |
probably null |
Het |
Dennd1b |
T |
G |
1: 139,067,130 (GRCm39) |
S398A |
possibly damaging |
Het |
Hadh |
T |
C |
3: 131,042,192 (GRCm39) |
S98G |
probably benign |
Het |
Has2 |
C |
T |
15: 56,531,656 (GRCm39) |
R353H |
probably damaging |
Het |
Heg1 |
T |
C |
16: 33,547,783 (GRCm39) |
S857P |
probably benign |
Het |
Hemgn |
T |
A |
4: 46,400,732 (GRCm39) |
R43* |
probably null |
Het |
Htr4 |
A |
T |
18: 62,570,692 (GRCm39) |
H249L |
possibly damaging |
Het |
Hycc2 |
A |
G |
1: 58,569,076 (GRCm39) |
L501P |
probably damaging |
Het |
Iqgap3 |
T |
C |
3: 88,022,281 (GRCm39) |
S495P |
probably benign |
Het |
Kars1 |
T |
C |
8: 112,732,271 (GRCm39) |
D99G |
probably benign |
Het |
Krt40 |
T |
A |
11: 99,428,394 (GRCm39) |
S333C |
probably damaging |
Het |
Lamc2 |
T |
C |
1: 152,999,871 (GRCm39) |
I1163V |
probably damaging |
Het |
Lrrn2 |
A |
T |
1: 132,866,065 (GRCm39) |
I377F |
possibly damaging |
Het |
Mcm5 |
T |
A |
8: 75,842,530 (GRCm39) |
I268N |
probably damaging |
Het |
Mmp21 |
G |
T |
7: 133,276,300 (GRCm39) |
H514Q |
probably damaging |
Het |
Mtcl1 |
G |
A |
17: 66,645,014 (GRCm39) |
P1478S |
probably damaging |
Het |
Mybbp1a |
A |
G |
11: 72,336,492 (GRCm39) |
T495A |
possibly damaging |
Het |
Myo10 |
T |
A |
15: 25,701,688 (GRCm39) |
V21E |
probably damaging |
Het |
Nap1l4 |
A |
G |
7: 143,091,982 (GRCm39) |
S49P |
probably benign |
Het |
Ncoa2 |
G |
A |
1: 13,247,316 (GRCm39) |
S369F |
probably damaging |
Het |
Niban2 |
A |
C |
2: 32,812,109 (GRCm39) |
Y397S |
probably benign |
Het |
Or5g9 |
A |
T |
2: 85,552,675 (GRCm39) |
K309* |
probably null |
Het |
Pon2 |
A |
G |
6: 5,265,316 (GRCm39) |
|
probably benign |
Het |
Ppdpf |
T |
C |
2: 180,829,673 (GRCm39) |
S43P |
probably benign |
Het |
Psmd6 |
A |
G |
14: 14,112,393 (GRCm38) |
|
probably benign |
Het |
Ptprk |
G |
T |
10: 28,368,957 (GRCm39) |
R643L |
probably damaging |
Het |
Ptprq |
T |
A |
10: 107,524,368 (GRCm39) |
Y455F |
probably benign |
Het |
Sec23b |
G |
A |
2: 144,408,679 (GRCm39) |
|
probably benign |
Het |
Sh3pxd2a |
A |
G |
19: 47,256,465 (GRCm39) |
L751P |
probably damaging |
Het |
Snx6 |
T |
A |
12: 54,830,228 (GRCm39) |
H77L |
probably damaging |
Het |
Svep1 |
C |
A |
4: 58,048,188 (GRCm39) |
C3472F |
possibly damaging |
Het |
Trpd52l3 |
A |
T |
19: 29,981,396 (GRCm39) |
E50D |
probably damaging |
Het |
Ttc33 |
A |
G |
15: 5,246,809 (GRCm39) |
D205G |
probably damaging |
Het |
Tubgcp3 |
A |
T |
8: 12,699,797 (GRCm39) |
V352E |
probably benign |
Het |
Tulp2 |
T |
G |
7: 45,171,734 (GRCm39) |
F436C |
probably damaging |
Het |
Vmn1r123 |
T |
A |
7: 20,896,282 (GRCm39) |
M58K |
possibly damaging |
Het |
Vmn2r113 |
T |
C |
17: 23,174,931 (GRCm39) |
V514A |
probably benign |
Het |
Vps13c |
T |
C |
9: 67,862,329 (GRCm39) |
V2982A |
probably benign |
Het |
Ywhaq |
T |
C |
12: 21,445,001 (GRCm39) |
T215A |
possibly damaging |
Het |
Zfp677 |
A |
T |
17: 21,617,135 (GRCm39) |
H64L |
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 |
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 |
2016-08-02 |