Incidental Mutation 'IGL01314:Rapgef3'
| ID |
73788 |
| 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 # |
IGL01314
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
97642651-97665853 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97646104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 132
(F132S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135317
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126854]
[ENSMUST00000128775]
[ENSMUST00000129223]
[ENSMUST00000134885]
[ENSMUST00000177352]
[ENSMUST00000175894]
|
| AlphaFold |
Q8VCC8 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123397
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125002
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126854
AA Change: F842S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116426
Gene: ENSMUSG00000022469
AA Change: F842S
| 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: F825S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120126
Gene: ENSMUSG00000022469
AA Change: F825S
| 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: F834S
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118148
Gene: ENSMUSG00000022469
AA Change: F834S
| 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: ENSMUST00000134885
AA Change: F132S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135317
Gene: ENSMUSG00000022469
AA Change: F132S
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEF
|
1 |
216 |
2.91e-56 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146214
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177352
AA Change: F800S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135238
Gene: ENSMUSG00000022469
AA Change: F800S
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175894
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
C |
T |
15: 11,071,939 (GRCm39) |
A161V |
probably benign |
Het |
| Bptf |
A |
T |
11: 106,945,679 (GRCm39) |
V2520E |
probably damaging |
Het |
| C87436 |
T |
C |
6: 86,434,837 (GRCm39) |
F395S |
probably damaging |
Het |
| Capn1 |
T |
C |
19: 6,040,014 (GRCm39) |
|
probably benign |
Het |
| Ceacam5 |
T |
A |
7: 17,481,181 (GRCm39) |
Y309* |
probably null |
Het |
| Clasp2 |
A |
G |
9: 113,735,195 (GRCm39) |
D1011G |
possibly damaging |
Het |
| Csmd3 |
A |
G |
15: 47,713,151 (GRCm39) |
Y1608H |
probably damaging |
Het |
| Dcaf1 |
T |
C |
9: 106,711,390 (GRCm39) |
I77T |
probably benign |
Het |
| Dcdc2a |
T |
C |
13: 25,286,587 (GRCm39) |
L170P |
probably damaging |
Het |
| Ddx28 |
A |
G |
8: 106,737,212 (GRCm39) |
F282S |
probably damaging |
Het |
| Egf |
A |
G |
3: 129,479,909 (GRCm39) |
I497T |
probably benign |
Het |
| Emsy |
A |
G |
7: 98,242,662 (GRCm39) |
V1159A |
probably benign |
Het |
| Hk3 |
C |
A |
13: 55,154,876 (GRCm39) |
|
probably benign |
Het |
| Htt |
A |
G |
5: 35,036,200 (GRCm39) |
D2049G |
probably benign |
Het |
| Inpp5d |
C |
A |
1: 87,611,472 (GRCm39) |
S45* |
probably null |
Het |
| Irf8 |
A |
G |
8: 121,480,119 (GRCm39) |
Y119C |
probably damaging |
Het |
| Klk1b4 |
T |
C |
7: 43,860,600 (GRCm39) |
|
probably null |
Het |
| Macf1 |
A |
G |
4: 123,380,513 (GRCm39) |
S1273P |
probably damaging |
Het |
| Man2c1 |
A |
T |
9: 57,049,103 (GRCm39) |
H867L |
probably benign |
Het |
| Mgat4e |
T |
C |
1: 134,469,187 (GRCm39) |
T286A |
probably damaging |
Het |
| Mug2 |
T |
C |
6: 122,058,238 (GRCm39) |
F1267L |
possibly damaging |
Het |
| Necab1 |
T |
A |
4: 15,005,079 (GRCm39) |
E128D |
probably damaging |
Het |
| Or10ak9 |
G |
A |
4: 118,726,328 (GRCm39) |
V117I |
probably benign |
Het |
| Pds5a |
A |
G |
5: 65,772,637 (GRCm39) |
V1322A |
probably benign |
Het |
| Poc1b |
C |
T |
10: 98,965,503 (GRCm39) |
T144I |
probably damaging |
Het |
| Prcc |
T |
A |
3: 87,777,387 (GRCm39) |
N196Y |
probably damaging |
Het |
| Psma5 |
G |
A |
3: 108,187,111 (GRCm39) |
V237M |
possibly damaging |
Het |
| Rap1gds1 |
A |
G |
3: 138,756,322 (GRCm39) |
L11P |
probably damaging |
Het |
| Rgs13 |
T |
G |
1: 144,047,179 (GRCm39) |
D14A |
probably benign |
Het |
| Rlig1 |
A |
C |
10: 100,409,473 (GRCm39) |
D313E |
probably damaging |
Het |
| Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
| Tcerg1 |
C |
A |
18: 42,706,374 (GRCm39) |
A1017D |
probably damaging |
Het |
| Tent5c |
T |
C |
3: 100,380,490 (GRCm39) |
K89E |
probably benign |
Het |
| Tmem79 |
T |
C |
3: 88,239,883 (GRCm39) |
I276V |
possibly damaging |
Het |
| Tmem94 |
C |
A |
11: 115,680,835 (GRCm39) |
H113N |
probably damaging |
Het |
| Vil1 |
G |
A |
1: 74,467,397 (GRCm39) |
D715N |
probably damaging |
Het |
| Vmn2r96 |
A |
G |
17: 18,803,226 (GRCm39) |
T187A |
probably benign |
Het |
| Zfhx4 |
T |
A |
3: 5,478,154 (GRCm39) |
S3590T |
probably damaging |
Het |
|
| Other mutations in Rapgef3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
Incidental Mutation