Incidental Mutation 'IGL01339:Rapgef3'
ID |
74761 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rapgef3
|
Ensembl Gene |
ENSMUSG00000022469 |
Gene Name |
Rap guanine nucleotide exchange factor (GEF) 3 |
Synonyms |
Epac1, 9330170P05Rik, 2310016P22Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.268)
|
Stock # |
IGL01339
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
97642651-97665853 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 97655940 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Methionine
at position 359
(L359M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135238
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126854]
[ENSMUST00000128775]
[ENSMUST00000129223]
[ENSMUST00000134371]
[ENSMUST00000134885]
[ENSMUST00000177352]
[ENSMUST00000175894]
[ENSMUST00000149419]
[ENSMUST00000146620]
|
AlphaFold |
Q8VCC8 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123397
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126854
AA Change: L401M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116426 Gene: ENSMUSG00000022469 AA Change: L401M
Domain | Start | End | E-Value | Type |
DEP
|
111 |
186 |
2.05e-25 |
SMART |
low complexity region
|
197 |
208 |
N/A |
INTRINSIC |
low complexity region
|
230 |
241 |
N/A |
INTRINSIC |
cNMP
|
245 |
364 |
2.53e-12 |
SMART |
RasGEFN
|
383 |
514 |
7.04e-10 |
SMART |
Blast:RasGEF
|
547 |
644 |
6e-45 |
BLAST |
RasGEF
|
661 |
926 |
7.98e-95 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000128775
AA Change: L401M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120126 Gene: ENSMUSG00000022469 AA Change: L401M
Domain | Start | End | E-Value | Type |
DEP
|
111 |
186 |
2.05e-25 |
SMART |
low complexity region
|
197 |
208 |
N/A |
INTRINSIC |
low complexity region
|
230 |
241 |
N/A |
INTRINSIC |
cNMP
|
245 |
364 |
2.53e-12 |
SMART |
RasGEFN
|
383 |
514 |
7.04e-10 |
SMART |
Blast:RasGEF
|
547 |
644 |
7e-45 |
BLAST |
RasGEF
|
661 |
909 |
5.53e-80 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000129223
AA Change: L401M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118148 Gene: ENSMUSG00000022469 AA Change: L401M
Domain | Start | End | E-Value | Type |
DEP
|
111 |
186 |
2.05e-25 |
SMART |
low complexity region
|
197 |
208 |
N/A |
INTRINSIC |
low complexity region
|
230 |
241 |
N/A |
INTRINSIC |
cNMP
|
245 |
364 |
2.53e-12 |
SMART |
RasGEFN
|
383 |
514 |
7.04e-10 |
SMART |
Blast:RasGEF
|
547 |
644 |
6e-45 |
BLAST |
RasGEF
|
661 |
918 |
2.11e-85 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000134371
AA Change: L54M
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000122746 Gene: ENSMUSG00000022469 AA Change: L54M
Domain | Start | End | E-Value | Type |
Blast:cNMP
|
1 |
24 |
9e-8 |
BLAST |
PDB:3CF6|E
|
1 |
67 |
5e-12 |
PDB |
Blast:RasGEFN
|
36 |
67 |
2e-15 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134885
|
SMART Domains |
Protein: ENSMUSP00000135317 Gene: ENSMUSG00000022469
Domain | Start | End | E-Value | Type |
RasGEF
|
1 |
216 |
2.91e-56 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142196
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000177352
AA Change: L359M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135238 Gene: ENSMUSG00000022469 AA Change: L359M
Domain | Start | End | E-Value | Type |
DEP
|
69 |
144 |
2.05e-25 |
SMART |
low complexity region
|
155 |
166 |
N/A |
INTRINSIC |
low complexity region
|
188 |
199 |
N/A |
INTRINSIC |
cNMP
|
203 |
322 |
2.53e-12 |
SMART |
RasGEFN
|
341 |
472 |
7.04e-10 |
SMART |
Blast:RasGEF
|
505 |
602 |
3e-45 |
BLAST |
RasGEF
|
619 |
884 |
7.98e-95 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149373
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153464
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146214
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153241
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175894
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149419
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146620
|
SMART Domains |
Protein: ENSMUSP00000116673 Gene: ENSMUSG00000022469
Domain | Start | End | E-Value | Type |
DEP
|
69 |
144 |
2.05e-25 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased induced neuron apoptosis. Mice homozygous for a different allele exhibit impaired glucose homeostasis with decreased insulin secretion, increased susceptibility to diet-induced obesity and streptozotocin-induced insulitis and hyperglycemia. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bahcc1 |
A |
G |
11: 120,180,338 (GRCm39) |
T2565A |
probably damaging |
Het |
C8a |
A |
C |
4: 104,685,182 (GRCm39) |
F354V |
probably benign |
Het |
Cadps |
C |
T |
14: 12,486,543 (GRCm38) |
V876M |
possibly damaging |
Het |
Chmp7 |
A |
T |
14: 69,956,855 (GRCm39) |
I351N |
probably damaging |
Het |
Clec7a |
A |
T |
6: 129,442,449 (GRCm39) |
W193R |
probably damaging |
Het |
Clint1 |
T |
C |
11: 45,799,846 (GRCm39) |
V535A |
probably benign |
Het |
Clu |
A |
G |
14: 66,213,037 (GRCm39) |
E141G |
probably damaging |
Het |
Cmah |
A |
T |
13: 24,614,532 (GRCm39) |
D159V |
probably damaging |
Het |
Cntn2 |
A |
T |
1: 132,446,643 (GRCm39) |
|
probably null |
Het |
Cox6a1 |
C |
A |
5: 115,483,898 (GRCm39) |
|
probably benign |
Het |
Cyp2d10 |
C |
T |
15: 82,288,042 (GRCm39) |
A195T |
probably benign |
Het |
Dnah10 |
G |
T |
5: 124,854,276 (GRCm39) |
K1901N |
probably damaging |
Het |
Dnai3 |
T |
C |
3: 145,748,591 (GRCm39) |
Y841C |
probably benign |
Het |
Dop1a |
G |
A |
9: 86,433,730 (GRCm39) |
D2329N |
possibly damaging |
Het |
Eipr1 |
A |
G |
12: 28,914,770 (GRCm39) |
E308G |
probably damaging |
Het |
Exoc4 |
T |
C |
6: 33,282,335 (GRCm39) |
|
probably benign |
Het |
Fancd2 |
A |
G |
6: 113,530,713 (GRCm39) |
I449V |
probably benign |
Het |
Fbn2 |
T |
C |
18: 58,246,442 (GRCm39) |
T487A |
possibly damaging |
Het |
Fbxo40 |
T |
C |
16: 36,790,816 (GRCm39) |
E98G |
probably damaging |
Het |
Folh1 |
G |
A |
7: 86,375,306 (GRCm39) |
T527I |
probably damaging |
Het |
Gls |
C |
T |
1: 52,227,867 (GRCm39) |
D217N |
probably damaging |
Het |
Gm6994 |
A |
G |
14: 77,718,618 (GRCm39) |
|
probably benign |
Het |
Gpr149 |
A |
T |
3: 62,511,718 (GRCm39) |
W94R |
probably damaging |
Het |
Gpr158 |
A |
G |
2: 21,373,842 (GRCm39) |
D259G |
possibly damaging |
Het |
Hcn2 |
T |
C |
10: 79,564,902 (GRCm39) |
L438P |
probably damaging |
Het |
Hgd |
A |
C |
16: 37,452,092 (GRCm39) |
T374P |
possibly damaging |
Het |
Ints3 |
A |
G |
3: 90,322,463 (GRCm39) |
|
probably null |
Het |
Kctd5 |
A |
T |
17: 24,276,749 (GRCm39) |
V172E |
probably damaging |
Het |
Lmcd1 |
A |
G |
6: 112,287,586 (GRCm39) |
I91V |
probably benign |
Het |
Lrrc37a |
A |
G |
11: 103,388,763 (GRCm39) |
S2221P |
unknown |
Het |
Ltk |
T |
A |
2: 119,583,455 (GRCm39) |
D310V |
probably damaging |
Het |
Luzp1 |
T |
A |
4: 136,270,087 (GRCm39) |
M770K |
probably damaging |
Het |
Mxd4 |
G |
A |
5: 34,341,690 (GRCm39) |
|
probably benign |
Het |
Mzb1 |
T |
A |
18: 35,781,399 (GRCm39) |
H71L |
probably benign |
Het |
Necap2 |
G |
A |
4: 140,802,276 (GRCm39) |
T63I |
probably benign |
Het |
Nefl |
A |
G |
14: 68,323,931 (GRCm39) |
|
probably benign |
Het |
Odam |
G |
A |
5: 88,033,755 (GRCm39) |
|
probably null |
Het |
Pcdh18 |
A |
G |
3: 49,710,247 (GRCm39) |
I356T |
probably benign |
Het |
Pcx |
T |
A |
19: 4,670,263 (GRCm39) |
|
probably null |
Het |
Pde2a |
T |
C |
7: 101,156,366 (GRCm39) |
S593P |
probably benign |
Het |
Rb1 |
T |
C |
14: 73,501,811 (GRCm39) |
|
probably null |
Het |
Rbm44 |
A |
G |
1: 91,096,686 (GRCm39) |
I976V |
probably benign |
Het |
Rdh13 |
A |
T |
7: 4,430,623 (GRCm39) |
S278R |
probably damaging |
Het |
Rgma |
A |
G |
7: 73,067,231 (GRCm39) |
E256G |
probably damaging |
Het |
Rnf112 |
A |
T |
11: 61,341,303 (GRCm39) |
D402E |
probably benign |
Het |
Rnps1 |
T |
A |
17: 24,641,273 (GRCm39) |
D224E |
probably damaging |
Het |
Scn10a |
C |
T |
9: 119,451,832 (GRCm39) |
V1364M |
probably damaging |
Het |
Scn1a |
C |
T |
2: 66,156,304 (GRCm39) |
R535H |
probably benign |
Het |
Scn8a |
A |
T |
15: 100,930,082 (GRCm39) |
D1431V |
probably benign |
Het |
Setdb1 |
A |
T |
3: 95,245,891 (GRCm39) |
L677* |
probably null |
Het |
Slc17a8 |
T |
A |
10: 89,427,106 (GRCm39) |
I148F |
probably damaging |
Het |
Slx4ip |
T |
A |
2: 136,885,975 (GRCm39) |
C98* |
probably null |
Het |
Sptbn2 |
T |
G |
19: 4,796,000 (GRCm39) |
Y1726* |
probably null |
Het |
Tcof1 |
T |
C |
18: 60,951,167 (GRCm39) |
|
probably benign |
Het |
Tdrd3 |
G |
A |
14: 87,718,230 (GRCm39) |
V210I |
possibly damaging |
Het |
Tdrd9 |
G |
A |
12: 112,006,868 (GRCm39) |
V911M |
probably damaging |
Het |
Tmod4 |
G |
A |
3: 95,035,608 (GRCm39) |
R252H |
probably benign |
Het |
Tti1 |
G |
T |
2: 157,851,050 (GRCm39) |
P63Q |
possibly damaging |
Het |
Tuft1 |
A |
T |
3: 94,535,594 (GRCm39) |
D109E |
probably damaging |
Het |
Zcchc2 |
T |
C |
1: 105,957,505 (GRCm39) |
S659P |
probably damaging |
Het |
|
Other mutations in Rapgef3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01314:Rapgef3
|
APN |
15 |
97,646,104 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01670:Rapgef3
|
APN |
15 |
97,647,543 (GRCm39) |
missense |
probably benign |
0.15 |
IGL01902:Rapgef3
|
APN |
15 |
97,648,181 (GRCm39) |
missense |
probably benign |
0.32 |
IGL02137:Rapgef3
|
APN |
15 |
97,648,025 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02419:Rapgef3
|
APN |
15 |
97,648,171 (GRCm39) |
missense |
probably benign |
0.33 |
IGL02427:Rapgef3
|
APN |
15 |
97,645,017 (GRCm39) |
splice site |
probably null |
|
IGL02648:Rapgef3
|
APN |
15 |
97,656,273 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02834:Rapgef3
|
APN |
15 |
97,646,146 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03389:Rapgef3
|
APN |
15 |
97,647,397 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03055:Rapgef3
|
UTSW |
15 |
97,647,370 (GRCm39) |
splice site |
probably benign |
|
R0394:Rapgef3
|
UTSW |
15 |
97,655,700 (GRCm39) |
intron |
probably benign |
|
R0538:Rapgef3
|
UTSW |
15 |
97,655,698 (GRCm39) |
intron |
probably benign |
|
R0744:Rapgef3
|
UTSW |
15 |
97,659,466 (GRCm39) |
splice site |
probably benign |
|
R1288:Rapgef3
|
UTSW |
15 |
97,657,223 (GRCm39) |
missense |
probably benign |
0.31 |
R1512:Rapgef3
|
UTSW |
15 |
97,655,382 (GRCm39) |
missense |
probably benign |
0.24 |
R1676:Rapgef3
|
UTSW |
15 |
97,659,063 (GRCm39) |
missense |
probably benign |
0.35 |
R1745:Rapgef3
|
UTSW |
15 |
97,648,059 (GRCm39) |
missense |
probably benign |
0.22 |
R1928:Rapgef3
|
UTSW |
15 |
97,647,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R2063:Rapgef3
|
UTSW |
15 |
97,664,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R2067:Rapgef3
|
UTSW |
15 |
97,664,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R2092:Rapgef3
|
UTSW |
15 |
97,658,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R4358:Rapgef3
|
UTSW |
15 |
97,646,529 (GRCm39) |
missense |
probably benign |
0.05 |
R4624:Rapgef3
|
UTSW |
15 |
97,656,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R4627:Rapgef3
|
UTSW |
15 |
97,656,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R4727:Rapgef3
|
UTSW |
15 |
97,658,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R4812:Rapgef3
|
UTSW |
15 |
97,651,684 (GRCm39) |
missense |
probably benign |
0.21 |
R4928:Rapgef3
|
UTSW |
15 |
97,655,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R5161:Rapgef3
|
UTSW |
15 |
97,655,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R5442:Rapgef3
|
UTSW |
15 |
97,656,742 (GRCm39) |
missense |
probably damaging |
0.99 |
R5652:Rapgef3
|
UTSW |
15 |
97,656,318 (GRCm39) |
missense |
probably benign |
0.00 |
R5837:Rapgef3
|
UTSW |
15 |
97,655,223 (GRCm39) |
splice site |
probably benign |
|
R6056:Rapgef3
|
UTSW |
15 |
97,656,742 (GRCm39) |
missense |
probably damaging |
0.99 |
R6167:Rapgef3
|
UTSW |
15 |
97,665,292 (GRCm39) |
unclassified |
probably benign |
|
R6694:Rapgef3
|
UTSW |
15 |
97,657,865 (GRCm39) |
missense |
probably benign |
0.03 |
R7039:Rapgef3
|
UTSW |
15 |
97,659,449 (GRCm39) |
missense |
probably benign |
0.01 |
R7154:Rapgef3
|
UTSW |
15 |
97,651,758 (GRCm39) |
missense |
probably benign |
|
R7380:Rapgef3
|
UTSW |
15 |
97,664,672 (GRCm39) |
missense |
probably benign |
0.00 |
R7655:Rapgef3
|
UTSW |
15 |
97,659,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R7656:Rapgef3
|
UTSW |
15 |
97,659,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R7754:Rapgef3
|
UTSW |
15 |
97,655,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R7849:Rapgef3
|
UTSW |
15 |
97,656,271 (GRCm39) |
critical splice donor site |
probably null |
|
R8061:Rapgef3
|
UTSW |
15 |
97,659,401 (GRCm39) |
missense |
probably benign |
|
R8117:Rapgef3
|
UTSW |
15 |
97,648,747 (GRCm39) |
missense |
probably benign |
0.01 |
R8179:Rapgef3
|
UTSW |
15 |
97,658,621 (GRCm39) |
missense |
probably benign |
0.06 |
R8819:Rapgef3
|
UTSW |
15 |
97,646,538 (GRCm39) |
missense |
probably benign |
0.39 |
R8820:Rapgef3
|
UTSW |
15 |
97,646,538 (GRCm39) |
missense |
probably benign |
0.39 |
R8824:Rapgef3
|
UTSW |
15 |
97,664,789 (GRCm39) |
missense |
probably benign |
0.39 |
R9779:Rapgef3
|
UTSW |
15 |
97,643,479 (GRCm39) |
missense |
probably damaging |
0.99 |
R9781:Rapgef3
|
UTSW |
15 |
97,643,479 (GRCm39) |
missense |
probably damaging |
0.99 |
R9782:Rapgef3
|
UTSW |
15 |
97,643,479 (GRCm39) |
missense |
probably damaging |
0.99 |
RF024:Rapgef3
|
UTSW |
15 |
97,658,621 (GRCm39) |
missense |
probably benign |
0.06 |
X0011:Rapgef3
|
UTSW |
15 |
97,659,354 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2013-10-07 |