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 |
Tcd-2, tcs2, Tcd2, tcs-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.181)
|
| Stock # |
IGL03240
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
29360914-29379660 bp(+) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 29361161 bp (GRCm38)
|
| 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: 124,556,716 (GRCm38) |
|
probably benign |
Het |
| AA467197 |
A |
G |
2: 122,639,262 (GRCm38) |
T57A |
probably benign |
Het |
| Akap11 |
A |
T |
14: 78,495,905 (GRCm38) |
D1852E |
probably damaging |
Het |
| Arg2 |
T |
A |
12: 79,131,831 (GRCm38) |
|
probably null |
Het |
| Arhgef4 |
A |
G |
1: 34,806,026 (GRCm38) |
D1437G |
probably benign |
Het |
| AW551984 |
C |
A |
9: 39,589,122 (GRCm38) |
R780L |
probably benign |
Het |
| Baz1a |
T |
A |
12: 54,927,567 (GRCm38) |
K503* |
probably null |
Het |
| Cdk2ap1 |
A |
T |
5: 124,346,144 (GRCm38) |
H96Q |
probably damaging |
Het |
| Col11a1 |
T |
A |
3: 114,217,210 (GRCm38) |
|
probably null |
Het |
| Col12a1 |
A |
T |
9: 79,678,383 (GRCm38) |
|
probably null |
Het |
| Col22a1 |
G |
A |
15: 71,807,928 (GRCm38) |
P877S |
unknown |
Het |
| Col7a1 |
A |
T |
9: 108,968,373 (GRCm38) |
N1681Y |
probably null |
Het |
| Dennd1b |
T |
G |
1: 139,139,392 (GRCm38) |
S398A |
possibly damaging |
Het |
| Fam126b |
A |
G |
1: 58,529,917 (GRCm38) |
L501P |
probably damaging |
Het |
| Fam129b |
A |
C |
2: 32,922,097 (GRCm38) |
Y397S |
probably benign |
Het |
| Hadh |
T |
C |
3: 131,248,543 (GRCm38) |
S98G |
probably benign |
Het |
| Has2 |
C |
T |
15: 56,668,260 (GRCm38) |
R353H |
probably damaging |
Het |
| Heg1 |
T |
C |
16: 33,727,413 (GRCm38) |
S857P |
probably benign |
Het |
| Hemgn |
T |
A |
4: 46,400,732 (GRCm38) |
R43* |
probably null |
Het |
| Htr4 |
A |
T |
18: 62,437,621 (GRCm38) |
H249L |
possibly damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,114,974 (GRCm38) |
S495P |
probably benign |
Het |
| Kars |
T |
C |
8: 112,005,639 (GRCm38) |
D99G |
probably benign |
Het |
| Krt40 |
T |
A |
11: 99,537,568 (GRCm38) |
S333C |
probably damaging |
Het |
| Lamc2 |
T |
C |
1: 153,124,125 (GRCm38) |
I1163V |
probably damaging |
Het |
| Lrrn2 |
A |
T |
1: 132,938,327 (GRCm38) |
I377F |
possibly damaging |
Het |
| Mcm5 |
T |
A |
8: 75,115,902 (GRCm38) |
I268N |
probably damaging |
Het |
| Mmp21 |
G |
T |
7: 133,674,571 (GRCm38) |
H514Q |
probably damaging |
Het |
| Mtcl1 |
G |
A |
17: 66,338,019 (GRCm38) |
P1478S |
probably damaging |
Het |
| Mybbp1a |
A |
G |
11: 72,445,666 (GRCm38) |
T495A |
possibly damaging |
Het |
| Myo10 |
T |
A |
15: 25,701,602 (GRCm38) |
V21E |
probably damaging |
Het |
| Nap1l4 |
A |
G |
7: 143,538,245 (GRCm38) |
S49P |
probably benign |
Het |
| Ncoa2 |
G |
A |
1: 13,177,092 (GRCm38) |
S369F |
probably damaging |
Het |
| Olfr1009 |
A |
T |
2: 85,722,331 (GRCm38) |
K309* |
probably null |
Het |
| Pon2 |
A |
G |
6: 5,265,316 (GRCm38) |
|
probably benign |
Het |
| Ppdpf |
T |
C |
2: 181,187,880 (GRCm38) |
S43P |
probably benign |
Het |
| Psmd6 |
A |
G |
14: 14,112,393 (GRCm38) |
|
probably benign |
Het |
| Ptprk |
G |
T |
10: 28,492,961 (GRCm38) |
R643L |
probably damaging |
Het |
| Ptprq |
T |
A |
10: 107,688,507 (GRCm38) |
Y455F |
probably benign |
Het |
| Sec23b |
G |
A |
2: 144,566,759 (GRCm38) |
|
probably benign |
Het |
| Sh3pxd2a |
A |
G |
19: 47,268,026 (GRCm38) |
L751P |
probably damaging |
Het |
| Snx6 |
T |
A |
12: 54,783,443 (GRCm38) |
H77L |
probably damaging |
Het |
| Svep1 |
C |
A |
4: 58,048,188 (GRCm38) |
C3472F |
possibly damaging |
Het |
| Trpd52l3 |
A |
T |
19: 30,003,996 (GRCm38) |
E50D |
probably damaging |
Het |
| Ttc33 |
A |
G |
15: 5,217,328 (GRCm38) |
D205G |
probably damaging |
Het |
| Tubgcp3 |
A |
T |
8: 12,649,797 (GRCm38) |
V352E |
probably benign |
Het |
| Tulp2 |
T |
G |
7: 45,522,310 (GRCm38) |
F436C |
probably damaging |
Het |
| Uhrf1bp1 |
C |
A |
17: 27,893,253 (GRCm38) |
N1167K |
probably benign |
Het |
| Vmn1r123 |
T |
A |
7: 21,162,357 (GRCm38) |
M58K |
possibly damaging |
Het |
| Vmn2r113 |
T |
C |
17: 22,955,957 (GRCm38) |
V514A |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,955,047 (GRCm38) |
V2982A |
probably benign |
Het |
| Ywhaq |
T |
C |
12: 21,395,000 (GRCm38) |
T215A |
possibly damaging |
Het |
| Zfp677 |
A |
T |
17: 21,396,873 (GRCm38) |
H64L |
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 |
|
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 |
|
R2697:Fgd2
|
UTSW |
17 |
29,376,921 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation