Incidental Mutation 'IGL02093:Rapgef5'
ID |
279494 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rapgef5
|
Ensembl Gene |
ENSMUSG00000041992 |
Gene Name |
Rap guanine nucleotide exchange factor (GEF) 5 |
Synonyms |
mr-gef, D030051B22Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02093
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
117480146-117723472 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 117682867 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 220
(F220S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152339
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109691]
[ENSMUST00000222105]
[ENSMUST00000222185]
|
AlphaFold |
Q8C0Q9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109691
AA Change: F454S
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000105313 Gene: ENSMUSG00000041992 AA Change: F454S
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 damaging
Transcript: ENSMUST00000222105
AA Change: F252S
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000222185
AA Change: F220S
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223040
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223173
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr1 |
T |
A |
1: 173,160,396 (GRCm39) |
Y41F |
probably benign |
Het |
Amigo1 |
T |
C |
3: 108,095,214 (GRCm39) |
Y238H |
probably benign |
Het |
Ankrd17 |
A |
G |
5: 90,390,822 (GRCm39) |
S2283P |
possibly damaging |
Het |
Apobec4 |
A |
G |
1: 152,632,119 (GRCm39) |
H49R |
possibly damaging |
Het |
Arhgap44 |
T |
C |
11: 64,965,360 (GRCm39) |
K34R |
probably damaging |
Het |
Arsg |
A |
G |
11: 109,416,272 (GRCm39) |
Y173C |
possibly damaging |
Het |
Arv1 |
C |
A |
8: 125,457,617 (GRCm39) |
L56M |
probably damaging |
Het |
B3glct |
A |
T |
5: 149,656,150 (GRCm39) |
R194S |
probably benign |
Het |
Ccdc39 |
T |
A |
3: 33,886,717 (GRCm39) |
Y297F |
probably benign |
Het |
Dnah8 |
A |
G |
17: 30,936,854 (GRCm39) |
E1552G |
probably damaging |
Het |
Dnajb9 |
T |
C |
12: 44,253,987 (GRCm39) |
H140R |
probably damaging |
Het |
Dock5 |
T |
G |
14: 68,076,992 (GRCm39) |
|
probably benign |
Het |
Egr2 |
G |
A |
10: 67,375,854 (GRCm39) |
G92D |
probably damaging |
Het |
Evi2a |
G |
A |
11: 79,418,490 (GRCm39) |
S40L |
probably benign |
Het |
Fshr |
A |
G |
17: 89,309,317 (GRCm39) |
|
probably null |
Het |
Glce |
G |
A |
9: 61,977,821 (GRCm39) |
T21I |
probably damaging |
Het |
Gucy2d |
C |
A |
7: 98,092,755 (GRCm39) |
S44* |
probably null |
Het |
Heatr5a |
T |
C |
12: 51,962,858 (GRCm39) |
E1014G |
possibly damaging |
Het |
Hnrnpll |
A |
T |
17: 80,351,933 (GRCm39) |
H337Q |
probably benign |
Het |
Jhy |
G |
T |
9: 40,856,163 (GRCm39) |
|
probably null |
Het |
Kat5 |
A |
T |
19: 5,653,903 (GRCm39) |
M427K |
probably benign |
Het |
Lama5 |
G |
A |
2: 179,830,380 (GRCm39) |
P1876S |
probably damaging |
Het |
Lamc3 |
C |
A |
2: 31,777,667 (GRCm39) |
H104Q |
probably damaging |
Het |
Lcn5 |
T |
C |
2: 25,548,462 (GRCm39) |
Y84H |
probably damaging |
Het |
Mageb18 |
T |
A |
X: 91,163,872 (GRCm39) |
K123N |
probably damaging |
Het |
Mfhas1 |
T |
A |
8: 36,056,498 (GRCm39) |
N324K |
probably damaging |
Het |
Nagk |
T |
C |
6: 83,776,352 (GRCm39) |
F189S |
probably damaging |
Het |
Nbas |
T |
A |
12: 13,610,963 (GRCm39) |
M2218K |
probably benign |
Het |
Nuak2 |
C |
A |
1: 132,259,850 (GRCm39) |
P543T |
probably benign |
Het |
Or2ag17 |
C |
T |
7: 106,390,030 (GRCm39) |
M59I |
probably benign |
Het |
Or5bh3 |
C |
T |
X: 49,098,705 (GRCm39) |
M136I |
possibly damaging |
Het |
Prl8a9 |
T |
C |
13: 27,743,436 (GRCm39) |
Y123C |
probably damaging |
Het |
Rexo4 |
T |
C |
2: 26,852,530 (GRCm39) |
D135G |
probably benign |
Het |
Slc39a10 |
C |
T |
1: 46,874,369 (GRCm39) |
R311Q |
probably damaging |
Het |
Slfn10-ps |
A |
T |
11: 82,923,016 (GRCm39) |
|
noncoding transcript |
Het |
Tfrc |
A |
G |
16: 32,449,012 (GRCm39) |
E717G |
probably benign |
Het |
Tg |
T |
A |
15: 66,564,223 (GRCm39) |
N1141K |
possibly damaging |
Het |
Topors |
T |
C |
4: 40,261,467 (GRCm39) |
S606G |
probably damaging |
Het |
Usp11 |
A |
G |
X: 20,585,591 (GRCm39) |
D827G |
probably benign |
Het |
Vmn2r1 |
A |
T |
3: 64,012,130 (GRCm39) |
M664L |
probably benign |
Het |
Vmn2r14 |
A |
T |
5: 109,368,275 (GRCm39) |
M239K |
possibly damaging |
Het |
Xiap |
T |
C |
X: 41,188,704 (GRCm39) |
|
probably benign |
Het |
Zfp2 |
G |
A |
11: 50,791,831 (GRCm39) |
P71S |
probably benign |
Het |
Zhx1 |
T |
A |
15: 57,916,264 (GRCm39) |
T661S |
probably benign |
Het |
|
Other mutations in Rapgef5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00420:Rapgef5
|
APN |
12 |
117,677,917 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01405:Rapgef5
|
APN |
12 |
117,685,115 (GRCm39) |
missense |
probably benign |
0.16 |
IGL01611:Rapgef5
|
APN |
12 |
117,717,154 (GRCm39) |
splice site |
probably benign |
|
IGL01720:Rapgef5
|
APN |
12 |
117,577,055 (GRCm39) |
splice site |
probably benign |
|
IGL01958:Rapgef5
|
APN |
12 |
117,694,386 (GRCm39) |
missense |
probably benign |
0.24 |
IGL03210:Rapgef5
|
APN |
12 |
117,706,607 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03370:Rapgef5
|
APN |
12 |
117,694,294 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03397:Rapgef5
|
APN |
12 |
117,712,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R0026:Rapgef5
|
UTSW |
12 |
117,652,896 (GRCm39) |
missense |
probably benign |
0.11 |
R0026:Rapgef5
|
UTSW |
12 |
117,652,896 (GRCm39) |
missense |
probably benign |
0.11 |
R0100:Rapgef5
|
UTSW |
12 |
117,685,034 (GRCm39) |
missense |
probably benign |
0.05 |
R0173:Rapgef5
|
UTSW |
12 |
117,652,411 (GRCm39) |
missense |
probably benign |
0.00 |
R0834:Rapgef5
|
UTSW |
12 |
117,610,741 (GRCm39) |
splice site |
probably benign |
|
R1331:Rapgef5
|
UTSW |
12 |
117,685,084 (GRCm39) |
missense |
probably benign |
0.04 |
R1505:Rapgef5
|
UTSW |
12 |
117,652,354 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1546:Rapgef5
|
UTSW |
12 |
117,610,721 (GRCm39) |
missense |
probably benign |
0.00 |
R1577:Rapgef5
|
UTSW |
12 |
117,558,911 (GRCm39) |
missense |
probably benign |
0.28 |
R1597:Rapgef5
|
UTSW |
12 |
117,621,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R1824:Rapgef5
|
UTSW |
12 |
117,652,419 (GRCm39) |
critical splice donor site |
probably null |
|
R2065:Rapgef5
|
UTSW |
12 |
117,547,739 (GRCm39) |
nonsense |
probably null |
|
R2117:Rapgef5
|
UTSW |
12 |
117,677,799 (GRCm39) |
splice site |
probably null |
|
R2169:Rapgef5
|
UTSW |
12 |
117,679,130 (GRCm39) |
missense |
probably benign |
0.25 |
R2903:Rapgef5
|
UTSW |
12 |
117,677,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R3983:Rapgef5
|
UTSW |
12 |
117,692,405 (GRCm39) |
missense |
possibly damaging |
0.49 |
R4004:Rapgef5
|
UTSW |
12 |
117,712,132 (GRCm39) |
missense |
probably damaging |
0.99 |
R4652:Rapgef5
|
UTSW |
12 |
117,677,863 (GRCm39) |
missense |
probably damaging |
0.99 |
R4830:Rapgef5
|
UTSW |
12 |
117,719,809 (GRCm39) |
missense |
probably damaging |
1.00 |
R5282:Rapgef5
|
UTSW |
12 |
117,703,379 (GRCm39) |
missense |
probably damaging |
1.00 |
R5348:Rapgef5
|
UTSW |
12 |
117,652,346 (GRCm39) |
missense |
probably benign |
0.24 |
R5456:Rapgef5
|
UTSW |
12 |
117,692,381 (GRCm39) |
splice site |
probably null |
|
R5502:Rapgef5
|
UTSW |
12 |
117,685,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R5741:Rapgef5
|
UTSW |
12 |
117,719,764 (GRCm39) |
missense |
probably damaging |
0.99 |
R5771:Rapgef5
|
UTSW |
12 |
117,685,061 (GRCm39) |
missense |
probably benign |
0.45 |
R5905:Rapgef5
|
UTSW |
12 |
117,712,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R5941:Rapgef5
|
UTSW |
12 |
117,692,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R6228:Rapgef5
|
UTSW |
12 |
117,685,398 (GRCm39) |
splice site |
probably null |
|
R6233:Rapgef5
|
UTSW |
12 |
117,703,453 (GRCm39) |
critical splice donor site |
probably null |
|
R6376:Rapgef5
|
UTSW |
12 |
117,684,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R6475:Rapgef5
|
UTSW |
12 |
117,681,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R7063:Rapgef5
|
UTSW |
12 |
117,652,864 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7410:Rapgef5
|
UTSW |
12 |
117,685,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R7445:Rapgef5
|
UTSW |
12 |
117,719,704 (GRCm39) |
missense |
probably benign |
0.00 |
R7690:Rapgef5
|
UTSW |
12 |
117,685,105 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7707:Rapgef5
|
UTSW |
12 |
117,679,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R7815:Rapgef5
|
UTSW |
12 |
117,719,702 (GRCm39) |
missense |
probably benign |
0.10 |
R8461:Rapgef5
|
UTSW |
12 |
117,677,844 (GRCm39) |
missense |
probably benign |
0.00 |
R8475:Rapgef5
|
UTSW |
12 |
117,681,965 (GRCm39) |
missense |
probably damaging |
0.99 |
R8675:Rapgef5
|
UTSW |
12 |
117,547,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R8682:Rapgef5
|
UTSW |
12 |
117,545,432 (GRCm39) |
missense |
probably benign |
0.06 |
R9018:Rapgef5
|
UTSW |
12 |
117,712,132 (GRCm39) |
missense |
probably damaging |
0.99 |
R9617:Rapgef5
|
UTSW |
12 |
117,621,930 (GRCm39) |
missense |
probably benign |
0.00 |
X0018:Rapgef5
|
UTSW |
12 |
117,681,950 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Rapgef5
|
UTSW |
12 |
117,558,908 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Rapgef5
|
UTSW |
12 |
117,652,732 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Posted On |
2015-04-16 |