Incidental Mutation 'R0394:Rapgef3'
| ID |
31896 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rapgef3
|
| Ensembl Gene |
ENSMUSG00000022469 |
| Gene Name |
Rap guanine nucleotide exchange factor (GEF) 3 |
| Synonyms |
Epac1, 9330170P05Rik, 2310016P22Rik |
| MMRRC Submission |
038600-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.267)
|
| Stock # |
R0394 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
97642651-97665853 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to T
at 97655700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126854]
[ENSMUST00000128775]
[ENSMUST00000129223]
[ENSMUST00000134371]
[ENSMUST00000134885]
[ENSMUST00000177352]
[ENSMUST00000146620]
[ENSMUST00000149419]
[ENSMUST00000175894]
|
| AlphaFold |
Q8VCC8 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123397
|
| Predicted Effect |
probably benign
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 benign
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 benign
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 benign
Transcript: ENSMUST00000134371
|
| SMART Domains |
Protein: ENSMUSP00000122746
Gene: ENSMUSG00000022469
| 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 |
noncoding transcript
Transcript: ENSMUST00000146214
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153464
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149373
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153241
|
| Predicted Effect |
probably benign
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 |
probably benign
Transcript: ENSMUST00000146620
|
| SMART Domains |
Protein: ENSMUSP00000116673
Gene: ENSMUSG00000022469
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
69 |
144 |
2.05e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149419
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175894
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.0%
|
| Validation Efficiency |
99% (79/80) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
A |
3: 137,773,065 (GRCm39) |
S751R |
probably damaging |
Het |
| Abca8a |
A |
G |
11: 109,917,169 (GRCm39) |
V1610A |
probably damaging |
Het |
| Actl10 |
A |
T |
2: 154,394,957 (GRCm39) |
H202L |
probably benign |
Het |
| Alox12 |
A |
T |
11: 70,136,761 (GRCm39) |
V489E |
probably damaging |
Het |
| Ap4m1 |
T |
A |
5: 138,170,465 (GRCm39) |
F5I |
probably benign |
Het |
| Atn1 |
T |
C |
6: 124,726,696 (GRCm39) |
|
probably benign |
Het |
| Atrnl1 |
T |
A |
19: 57,661,608 (GRCm39) |
N529K |
probably benign |
Het |
| B3gntl1 |
C |
T |
11: 121,510,541 (GRCm39) |
G336D |
probably damaging |
Het |
| Bmp1 |
G |
A |
14: 70,727,474 (GRCm39) |
A703V |
probably damaging |
Het |
| Brat1 |
T |
G |
5: 140,704,141 (GRCm39) |
L798R |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 118,602,458 (GRCm39) |
G1302R |
probably damaging |
Het |
| Cdr2 |
A |
T |
7: 120,557,954 (GRCm39) |
D190E |
probably benign |
Het |
| Cenpe |
T |
C |
3: 134,922,186 (GRCm39) |
|
probably benign |
Het |
| Clstn1 |
A |
G |
4: 149,728,635 (GRCm39) |
D687G |
probably benign |
Het |
| Coro1a |
A |
G |
7: 126,299,812 (GRCm39) |
F337L |
probably benign |
Het |
| Ddx49 |
T |
A |
8: 70,749,575 (GRCm39) |
I252F |
probably damaging |
Het |
| Dennd2a |
T |
A |
6: 39,499,746 (GRCm39) |
D273V |
possibly damaging |
Het |
| Derl2 |
A |
T |
11: 70,905,387 (GRCm39) |
F32I |
probably benign |
Het |
| Dmrta1 |
A |
G |
4: 89,580,276 (GRCm39) |
Y412C |
probably damaging |
Het |
| Dsg1a |
A |
G |
18: 20,466,807 (GRCm39) |
N559S |
probably damaging |
Het |
| Dusp26 |
G |
T |
8: 31,581,987 (GRCm39) |
R27L |
probably benign |
Het |
| Eif2ak3 |
T |
C |
6: 70,862,202 (GRCm39) |
I492T |
probably benign |
Het |
| Exoc7 |
G |
T |
11: 116,191,224 (GRCm39) |
Q219K |
probably damaging |
Het |
| F2r |
T |
C |
13: 95,740,984 (GRCm39) |
T184A |
probably damaging |
Het |
| Fbf1 |
G |
A |
11: 116,043,288 (GRCm39) |
|
probably benign |
Het |
| Fbxo28 |
A |
G |
1: 182,144,580 (GRCm39) |
M328T |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,821,419 (GRCm39) |
D5717E |
possibly damaging |
Het |
| Gnpat |
C |
A |
8: 125,606,964 (GRCm39) |
S373R |
possibly damaging |
Het |
| Golgb1 |
G |
T |
16: 36,695,941 (GRCm39) |
|
probably benign |
Het |
| Greb1l |
T |
C |
18: 10,523,374 (GRCm39) |
V844A |
probably damaging |
Het |
| Hps1 |
G |
T |
19: 42,759,338 (GRCm39) |
|
probably null |
Het |
| Inppl1 |
G |
T |
7: 101,477,402 (GRCm39) |
|
probably benign |
Het |
| Isca1 |
C |
T |
13: 59,906,699 (GRCm39) |
|
probably null |
Het |
| Itgb2 |
T |
A |
10: 77,378,309 (GRCm39) |
C46S |
probably damaging |
Het |
| Kifc5b |
C |
T |
17: 27,142,056 (GRCm39) |
T178M |
probably benign |
Het |
| Krt80 |
T |
C |
15: 101,250,180 (GRCm39) |
T22A |
probably damaging |
Het |
| L3mbtl2 |
C |
T |
15: 81,552,942 (GRCm39) |
A125V |
probably damaging |
Het |
| Ltbp2 |
C |
T |
12: 84,853,198 (GRCm39) |
|
probably benign |
Het |
| Mettl18 |
A |
G |
1: 163,823,910 (GRCm39) |
D77G |
probably benign |
Het |
| Mfsd2a |
A |
G |
4: 122,843,961 (GRCm39) |
L336P |
probably benign |
Het |
| Mgat4b |
A |
G |
11: 50,121,746 (GRCm39) |
|
probably null |
Het |
| Mtmr14 |
C |
T |
6: 113,257,649 (GRCm39) |
R233* |
probably null |
Het |
| Nbea |
T |
C |
3: 55,937,328 (GRCm39) |
Y761C |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,067,571 (GRCm39) |
|
probably null |
Het |
| Nup85 |
T |
G |
11: 115,455,357 (GRCm39) |
M1R |
probably null |
Het |
| Obi1 |
T |
C |
14: 104,716,289 (GRCm39) |
R695G |
possibly damaging |
Het |
| Or6c70 |
T |
A |
10: 129,709,811 (GRCm39) |
I272L |
probably benign |
Het |
| Oxr1 |
T |
A |
15: 41,680,593 (GRCm39) |
M177K |
probably damaging |
Het |
| Pgm2l1 |
A |
G |
7: 99,901,405 (GRCm39) |
Y98C |
probably damaging |
Het |
| Pi4kb |
G |
T |
3: 94,904,115 (GRCm39) |
|
probably benign |
Het |
| Pi4kb |
G |
A |
3: 94,904,116 (GRCm39) |
|
probably benign |
Het |
| Pirb |
T |
A |
7: 3,722,247 (GRCm39) |
S199C |
probably benign |
Het |
| Prss23 |
A |
C |
7: 89,159,055 (GRCm39) |
I338S |
probably damaging |
Het |
| Rdh7 |
T |
A |
10: 127,720,539 (GRCm39) |
T278S |
probably benign |
Het |
| Rrp1b |
A |
G |
17: 32,277,538 (GRCm39) |
D606G |
probably benign |
Het |
| Rxfp1 |
T |
A |
3: 79,559,684 (GRCm39) |
Y379F |
possibly damaging |
Het |
| Rxfp2 |
T |
C |
5: 149,990,853 (GRCm39) |
V514A |
probably benign |
Het |
| Scel |
A |
T |
14: 103,799,954 (GRCm39) |
E202V |
probably benign |
Het |
| Slc25a36 |
G |
A |
9: 96,962,257 (GRCm39) |
A244V |
probably benign |
Het |
| Slc2a13 |
T |
G |
15: 91,400,595 (GRCm39) |
Q209P |
probably damaging |
Het |
| Slc38a6 |
A |
G |
12: 73,399,304 (GRCm39) |
N456S |
probably benign |
Het |
| Slc6a12 |
G |
T |
6: 121,323,957 (GRCm39) |
|
probably null |
Het |
| Spag6l |
T |
C |
16: 16,598,493 (GRCm39) |
I333V |
probably benign |
Het |
| Spen |
G |
A |
4: 141,201,514 (GRCm39) |
A2371V |
probably benign |
Het |
| St6galnac1 |
T |
C |
11: 116,657,466 (GRCm39) |
D366G |
probably damaging |
Het |
| Stk33 |
T |
C |
7: 108,940,696 (GRCm39) |
S5G |
probably benign |
Het |
| Tex56 |
T |
C |
13: 35,116,636 (GRCm39) |
|
probably benign |
Het |
| Tle2 |
T |
C |
10: 81,413,482 (GRCm39) |
L84P |
probably damaging |
Het |
| Tmem14a |
T |
C |
1: 21,296,876 (GRCm39) |
M78T |
probably damaging |
Het |
| Top2b |
T |
A |
14: 16,413,556 (GRCm38) |
|
probably null |
Het |
| Trmt13 |
A |
G |
3: 116,376,299 (GRCm39) |
F364S |
probably damaging |
Het |
| Unkl |
T |
A |
17: 25,449,751 (GRCm39) |
|
probably null |
Het |
| Uvrag |
A |
G |
7: 98,653,926 (GRCm39) |
|
probably benign |
Het |
| Vmn2r8 |
T |
A |
5: 108,949,938 (GRCm39) |
N303I |
probably benign |
Het |
| Vsig10l |
A |
G |
7: 43,114,879 (GRCm39) |
N360S |
probably damaging |
Het |
| Zdhhc25 |
T |
C |
15: 88,485,123 (GRCm39) |
Y153H |
probably damaging |
Het |
| Zfp646 |
T |
C |
7: 127,482,434 (GRCm39) |
V1537A |
possibly damaging |
Het |
| Zfp664 |
T |
A |
5: 124,963,129 (GRCm39) |
Y174* |
probably null |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATACGGCGGCCACTTTGAGATTCC -3'
(R):5'- GCAACAGAAGACACTCTCCCTGTTC -3'
Sequencing Primer
(F):5'- GAGATTCCTTCCCTCATCTCGAC -3'
(R):5'- AGACACTCTCCCTGTTCTCTGAG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation