Incidental Mutation 'IGL02427:Rapgef3'
| ID |
292968 |
| 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 # |
IGL02427
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
97642651-97665853 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 97645017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126854]
[ENSMUST00000128775]
[ENSMUST00000129223]
[ENSMUST00000134885]
[ENSMUST00000175894]
[ENSMUST00000177352]
|
| AlphaFold |
Q8VCC8 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123397
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125002
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000126854
|
| SMART Domains |
Protein: ENSMUSP00000116426
Gene: ENSMUSG00000022469
| 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 null
Transcript: ENSMUST00000128775
|
| SMART Domains |
Protein: ENSMUSP00000120126
Gene: ENSMUSG00000022469
| 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 null
Transcript: ENSMUST00000129223
|
| SMART Domains |
Protein: ENSMUSP00000118148
Gene: ENSMUSG00000022469
| 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 null
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: ENSMUST00000146214
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175894
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000177352
|
| SMART Domains |
Protein: ENSMUSP00000135238
Gene: ENSMUSG00000022469
| 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: ENSMUST00000155810
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
C |
T |
5: 99,381,829 (GRCm39) |
G311D |
probably damaging |
Het |
| Ablim1 |
A |
T |
19: 57,068,312 (GRCm39) |
|
probably benign |
Het |
| Adgrg2 |
T |
C |
X: 159,274,400 (GRCm39) |
F863S |
probably damaging |
Het |
| B3galt2 |
A |
T |
1: 143,522,254 (GRCm39) |
H130L |
probably benign |
Het |
| Bbs2 |
G |
A |
8: 94,807,746 (GRCm39) |
P378S |
possibly damaging |
Het |
| Ccdc154 |
A |
T |
17: 25,390,731 (GRCm39) |
|
probably null |
Het |
| Ccdc88c |
C |
T |
12: 100,887,851 (GRCm39) |
C1543Y |
probably damaging |
Het |
| Cdcp3 |
T |
A |
7: 130,846,517 (GRCm39) |
V647E |
probably damaging |
Het |
| Cfap77 |
A |
T |
2: 28,845,592 (GRCm39) |
C258* |
probably null |
Het |
| Cpsf4l |
T |
G |
11: 113,600,324 (GRCm39) |
|
probably benign |
Het |
| Csrnp3 |
G |
A |
2: 65,708,380 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
G |
A |
17: 46,813,558 (GRCm39) |
T2305I |
possibly damaging |
Het |
| Cwf19l1 |
G |
A |
19: 44,121,462 (GRCm39) |
Q29* |
probably null |
Het |
| Cwf19l2 |
G |
T |
9: 3,456,817 (GRCm39) |
V717L |
probably benign |
Het |
| Cyp1a1 |
A |
G |
9: 57,607,858 (GRCm39) |
Y162C |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,216,275 (GRCm39) |
D589G |
probably damaging |
Het |
| Dmbt1 |
G |
T |
7: 130,689,815 (GRCm39) |
|
probably null |
Het |
| Dtna |
T |
C |
18: 23,784,595 (GRCm39) |
Y705H |
possibly damaging |
Het |
| Fancd2 |
T |
A |
6: 113,526,313 (GRCm39) |
|
probably null |
Het |
| Frem2 |
T |
A |
3: 53,443,184 (GRCm39) |
N2527Y |
probably damaging |
Het |
| Gm7694 |
T |
C |
1: 170,130,113 (GRCm39) |
D95G |
probably benign |
Het |
| Haus5 |
T |
C |
7: 30,361,196 (GRCm39) |
T115A |
probably benign |
Het |
| Kdm3a |
A |
T |
6: 71,569,184 (GRCm39) |
|
probably benign |
Het |
| Klra6 |
T |
C |
6: 129,993,680 (GRCm39) |
D197G |
possibly damaging |
Het |
| Lap3 |
T |
C |
5: 45,668,475 (GRCm39) |
V429A |
probably damaging |
Het |
| Mroh2b |
G |
T |
15: 4,981,042 (GRCm39) |
|
probably benign |
Het |
| Myh9 |
T |
A |
15: 77,660,004 (GRCm39) |
Q88L |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,083,900 (GRCm39) |
|
probably benign |
Het |
| Negr1 |
C |
T |
3: 156,267,827 (GRCm39) |
|
probably benign |
Het |
| Niban1 |
A |
T |
1: 151,593,025 (GRCm39) |
D570V |
probably damaging |
Het |
| Nlrp9b |
T |
G |
7: 19,776,426 (GRCm39) |
C337W |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,957,988 (GRCm39) |
C3780S |
probably damaging |
Het |
| Or1e19 |
A |
T |
11: 73,316,487 (GRCm39) |
F107L |
probably damaging |
Het |
| Piwil2 |
T |
A |
14: 70,635,583 (GRCm39) |
|
probably benign |
Het |
| Ppp6r3 |
T |
C |
19: 3,516,580 (GRCm39) |
S213G |
probably null |
Het |
| Pxdn |
T |
A |
12: 30,034,531 (GRCm39) |
C39S |
probably damaging |
Het |
| Raf1 |
T |
C |
6: 115,608,288 (GRCm39) |
N241S |
probably benign |
Het |
| Rhox2h |
C |
T |
X: 36,854,526 (GRCm39) |
G72D |
probably benign |
Het |
| Sbf1 |
T |
C |
15: 89,190,188 (GRCm39) |
|
probably benign |
Het |
| Sema5a |
T |
C |
15: 32,673,690 (GRCm39) |
|
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,900,688 (GRCm39) |
D993G |
probably damaging |
Het |
| Slc5a4b |
A |
T |
10: 75,894,713 (GRCm39) |
C598S |
possibly damaging |
Het |
| Sorl1 |
T |
C |
9: 41,952,986 (GRCm39) |
D685G |
probably damaging |
Het |
| Sulf2 |
C |
T |
2: 165,931,218 (GRCm39) |
R263H |
probably damaging |
Het |
| Tbx22 |
C |
A |
X: 106,724,777 (GRCm39) |
P17T |
probably damaging |
Het |
| Tspoap1 |
A |
T |
11: 87,653,341 (GRCm39) |
T136S |
probably benign |
Het |
| Tyw5 |
T |
C |
1: 57,427,884 (GRCm39) |
E240G |
possibly damaging |
Het |
| Umodl1 |
C |
T |
17: 31,187,415 (GRCm39) |
|
probably benign |
Het |
| Vmn1r60 |
T |
C |
7: 5,547,780 (GRCm39) |
T107A |
probably damaging |
Het |
| Zbbx |
T |
C |
3: 75,046,905 (GRCm39) |
T121A |
probably benign |
Het |
| Zbtb11 |
A |
G |
16: 55,802,713 (GRCm39) |
D241G |
possibly damaging |
Het |
| Zfp445 |
T |
C |
9: 122,681,295 (GRCm39) |
H882R |
probably benign |
Het |
| Zscan30 |
T |
C |
18: 24,104,533 (GRCm39) |
|
noncoding transcript |
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 |
|
IGL01339:Rapgef3
|
APN |
15 |
97,655,940 (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 |
|
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 |
2015-04-16 |
Incidental Mutation