Incidental Mutation 'R0100:Rapgef5'
| ID |
16441 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rapgef5
|
| Ensembl Gene |
ENSMUSG00000041992 |
| Gene Name |
Rap guanine nucleotide exchange factor (GEF) 5 |
| Synonyms |
D030051B22Rik, mr-gef |
| MMRRC Submission |
038386-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0100 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
117516479-117759737 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 117721299 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 261
(S261L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152339
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109691]
[ENSMUST00000222105]
[ENSMUST00000222185]
|
| AlphaFold |
Q8C0Q9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109691
AA Change: S495L
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000105313
Gene: ENSMUSG00000041992
AA Change: S495L
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
44 |
118 |
2.07e-12 |
SMART |
|
RasGEFN
|
300 |
434 |
3.12e-34 |
SMART |
|
Blast:RasGEF
|
441 |
502 |
7e-31 |
BLAST |
|
RasGEF
|
574 |
814 |
1.52e-100 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222105
AA Change: S293L
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222185
AA Change: S261L
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223040
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223173
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 90.3%
- 3x: 88.1%
- 10x: 82.7%
- 20x: 75.2%
|
| Validation Efficiency |
89% (68/76) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF5, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406P16Rik |
A |
G |
7: 34,254,011 (GRCm38) |
I442T |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,174,958 (GRCm38) |
C814R |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,908,604 (GRCm38) |
I681T |
possibly damaging |
Het |
| Atp13a4 |
T |
C |
16: 29,421,724 (GRCm38) |
H793R |
probably damaging |
Het |
| Atp6v0a4 |
T |
C |
6: 38,076,815 (GRCm38) |
I351V |
probably benign |
Het |
| Bbof1 |
T |
A |
12: 84,411,055 (GRCm38) |
D31E |
probably benign |
Het |
| Cpxm2 |
T |
A |
7: 132,054,871 (GRCm38) |
H554L |
possibly damaging |
Het |
| Ddx55 |
C |
T |
5: 124,556,782 (GRCm38) |
T91I |
probably damaging |
Het |
| Dhx57 |
T |
C |
17: 80,275,156 (GRCm38) |
D340G |
possibly damaging |
Het |
| Dnah1 |
C |
T |
14: 31,262,152 (GRCm38) |
|
probably null |
Het |
| Dpp9 |
C |
T |
17: 56,205,854 (GRCm38) |
G118D |
possibly damaging |
Het |
| Etl4 |
T |
C |
2: 20,339,905 (GRCm38) |
S4P |
probably benign |
Het |
| Fat4 |
A |
C |
3: 38,980,248 (GRCm38) |
N2683T |
probably damaging |
Het |
| Gabrb2 |
A |
G |
11: 42,487,314 (GRCm38) |
D119G |
probably damaging |
Het |
| Greb1 |
T |
A |
12: 16,680,224 (GRCm38) |
Q1734L |
probably benign |
Het |
| Gtf2ird2 |
T |
C |
5: 134,217,015 (GRCm38) |
L705P |
probably damaging |
Het |
| H13 |
T |
A |
2: 152,689,863 (GRCm38) |
|
probably null |
Het |
| Hgs |
T |
G |
11: 120,482,852 (GRCm38) |
Y708D |
possibly damaging |
Het |
| Hip1 |
T |
C |
5: 135,436,453 (GRCm38) |
D367G |
probably benign |
Het |
| Ift140 |
C |
T |
17: 25,090,954 (GRCm38) |
Q1112* |
probably null |
Het |
| Il17b |
A |
G |
18: 61,690,271 (GRCm38) |
M59V |
probably benign |
Het |
| Lpin3 |
T |
C |
2: 160,905,340 (GRCm38) |
Y829H |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,745,796 (GRCm38) |
N1230I |
probably damaging |
Het |
| Mindy2 |
C |
A |
9: 70,607,449 (GRCm38) |
|
probably benign |
Het |
| Nup210 |
T |
G |
6: 91,069,193 (GRCm38) |
E586A |
probably benign |
Het |
| Olfr1105 |
T |
C |
2: 87,033,595 (GRCm38) |
T209A |
probably benign |
Het |
| Olfr1344 |
C |
T |
7: 6,440,400 (GRCm38) |
R167C |
probably damaging |
Het |
| Olfr346 |
A |
T |
2: 36,688,911 (GRCm38) |
N303I |
probably benign |
Het |
| Osgepl1 |
A |
G |
1: 53,323,213 (GRCm38) |
I405V |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,102,666 (GRCm38) |
S360P |
probably benign |
Het |
| Plekha6 |
T |
C |
1: 133,270,177 (GRCm38) |
S271P |
probably damaging |
Het |
| Plekhs1 |
A |
G |
19: 56,478,502 (GRCm38) |
E255G |
probably damaging |
Het |
| Pram1 |
T |
A |
17: 33,641,399 (GRCm38) |
N313K |
possibly damaging |
Het |
| Spint5 |
T |
A |
2: 164,717,000 (GRCm38) |
C49S |
probably damaging |
Het |
| Tex22 |
T |
A |
12: 113,088,772 (GRCm38) |
I150N |
probably benign |
Het |
| Thoc6 |
A |
T |
17: 23,669,850 (GRCm38) |
W195R |
probably damaging |
Het |
| Tmem106a |
T |
C |
11: 101,586,258 (GRCm38) |
S98P |
probably benign |
Het |
| Tnfrsf18 |
A |
G |
4: 156,028,366 (GRCm38) |
T170A |
probably benign |
Het |
| Tor1aip1 |
A |
T |
1: 156,007,075 (GRCm38) |
D342E |
probably damaging |
Het |
| Trav7-6 |
T |
C |
14: 53,717,072 (GRCm38) |
S20P |
probably damaging |
Het |
| Trpc6 |
C |
T |
9: 8,653,034 (GRCm38) |
P614S |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,344,098 (GRCm38) |
F811L |
possibly damaging |
Het |
|
| Other mutations in Rapgef5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00420:Rapgef5
|
APN |
12 |
117,714,182 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01405:Rapgef5
|
APN |
12 |
117,721,380 (GRCm38) |
missense |
probably benign |
0.16 |
|
IGL01611:Rapgef5
|
APN |
12 |
117,753,419 (GRCm38) |
splice site |
probably benign |
|
|
IGL01720:Rapgef5
|
APN |
12 |
117,613,435 (GRCm38) |
splice site |
probably benign |
|
|
IGL01958:Rapgef5
|
APN |
12 |
117,730,651 (GRCm38) |
missense |
probably benign |
0.24 |
|
IGL02093:Rapgef5
|
APN |
12 |
117,719,132 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03210:Rapgef5
|
APN |
12 |
117,742,872 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03370:Rapgef5
|
APN |
12 |
117,730,559 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03397:Rapgef5
|
APN |
12 |
117,748,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0026:Rapgef5
|
UTSW |
12 |
117,689,161 (GRCm38) |
missense |
probably benign |
0.11 |
|
R0026:Rapgef5
|
UTSW |
12 |
117,689,161 (GRCm38) |
missense |
probably benign |
0.11 |
|
R0173:Rapgef5
|
UTSW |
12 |
117,688,676 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0834:Rapgef5
|
UTSW |
12 |
117,647,121 (GRCm38) |
splice site |
probably benign |
|
|
R1331:Rapgef5
|
UTSW |
12 |
117,721,349 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1505:Rapgef5
|
UTSW |
12 |
117,688,619 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1546:Rapgef5
|
UTSW |
12 |
117,647,101 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1577:Rapgef5
|
UTSW |
12 |
117,595,291 (GRCm38) |
missense |
probably benign |
0.28 |
|
R1597:Rapgef5
|
UTSW |
12 |
117,658,320 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1824:Rapgef5
|
UTSW |
12 |
117,688,684 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2065:Rapgef5
|
UTSW |
12 |
117,584,119 (GRCm38) |
nonsense |
probably null |
|
|
R2117:Rapgef5
|
UTSW |
12 |
117,714,064 (GRCm38) |
splice site |
probably null |
|
|
R2169:Rapgef5
|
UTSW |
12 |
117,715,395 (GRCm38) |
missense |
probably benign |
0.25 |
|
R2903:Rapgef5
|
UTSW |
12 |
117,714,119 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3983:Rapgef5
|
UTSW |
12 |
117,728,670 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R4004:Rapgef5
|
UTSW |
12 |
117,748,397 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4652:Rapgef5
|
UTSW |
12 |
117,714,128 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4830:Rapgef5
|
UTSW |
12 |
117,756,074 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5282:Rapgef5
|
UTSW |
12 |
117,739,644 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5348:Rapgef5
|
UTSW |
12 |
117,688,611 (GRCm38) |
missense |
probably benign |
0.24 |
|
R5456:Rapgef5
|
UTSW |
12 |
117,728,646 (GRCm38) |
splice site |
probably null |
|
|
R5502:Rapgef5
|
UTSW |
12 |
117,721,329 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5741:Rapgef5
|
UTSW |
12 |
117,756,029 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5771:Rapgef5
|
UTSW |
12 |
117,721,326 (GRCm38) |
missense |
probably benign |
0.45 |
|
R5905:Rapgef5
|
UTSW |
12 |
117,748,426 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5941:Rapgef5
|
UTSW |
12 |
117,728,738 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6228:Rapgef5
|
UTSW |
12 |
117,721,663 (GRCm38) |
splice site |
probably null |
|
|
R6233:Rapgef5
|
UTSW |
12 |
117,739,718 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6376:Rapgef5
|
UTSW |
12 |
117,721,253 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6475:Rapgef5
|
UTSW |
12 |
117,718,207 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7063:Rapgef5
|
UTSW |
12 |
117,689,129 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7410:Rapgef5
|
UTSW |
12 |
117,721,328 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7445:Rapgef5
|
UTSW |
12 |
117,755,969 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7690:Rapgef5
|
UTSW |
12 |
117,721,370 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R7707:Rapgef5
|
UTSW |
12 |
117,715,344 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7815:Rapgef5
|
UTSW |
12 |
117,755,967 (GRCm38) |
missense |
probably benign |
0.10 |
|
R8461:Rapgef5
|
UTSW |
12 |
117,714,109 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8475:Rapgef5
|
UTSW |
12 |
117,718,230 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8675:Rapgef5
|
UTSW |
12 |
117,584,162 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8682:Rapgef5
|
UTSW |
12 |
117,581,812 (GRCm38) |
missense |
probably benign |
0.06 |
|
R9018:Rapgef5
|
UTSW |
12 |
117,748,397 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9617:Rapgef5
|
UTSW |
12 |
117,658,310 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0018:Rapgef5
|
UTSW |
12 |
117,718,215 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Rapgef5
|
UTSW |
12 |
117,595,288 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Rapgef5
|
UTSW |
12 |
117,688,997 (GRCm38) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2013-01-20 |
Incidental Mutation