Incidental Mutation 'IGL02419:Rapgef3'
ID |
292564 |
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 # |
IGL02419
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
97642651-97665853 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 97648171 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 679
(N679K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118148
(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 benign
Transcript: ENSMUST00000126854
AA Change: N679K
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000116426 Gene: ENSMUSG00000022469 AA Change: N679K
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
AA Change: N679K
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000120126 Gene: ENSMUSG00000022469 AA Change: N679K
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
AA Change: N679K
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000118148 Gene: ENSMUSG00000022469 AA Change: N679K
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: 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: ENSMUST00000177352
AA Change: N637K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000135238 Gene: ENSMUSG00000022469 AA Change: N637K
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402J07Rik |
T |
C |
8: 88,312,727 (GRCm39) |
F171L |
possibly damaging |
Het |
Abca2 |
A |
G |
2: 25,336,849 (GRCm39) |
N2291D |
probably benign |
Het |
Adamts9 |
A |
G |
6: 92,773,978 (GRCm39) |
V1145A |
probably benign |
Het |
Adcy2 |
A |
G |
13: 69,130,482 (GRCm39) |
V135A |
probably benign |
Het |
Akr1c14 |
A |
T |
13: 4,130,617 (GRCm39) |
|
probably null |
Het |
Aptx |
G |
T |
4: 40,691,032 (GRCm39) |
A229E |
probably benign |
Het |
Ash1l |
T |
C |
3: 88,892,872 (GRCm39) |
S1584P |
probably benign |
Het |
Catsper3 |
A |
T |
13: 55,955,881 (GRCm39) |
T329S |
possibly damaging |
Het |
Cntrl |
A |
G |
2: 35,024,055 (GRCm39) |
D27G |
probably damaging |
Het |
Cobll1 |
A |
T |
2: 64,981,392 (GRCm39) |
I98K |
probably damaging |
Het |
Ctdp1 |
T |
C |
18: 80,463,799 (GRCm39) |
K79R |
probably damaging |
Het |
Cwf19l2 |
T |
C |
9: 3,418,777 (GRCm39) |
|
probably null |
Het |
Cyp11b2 |
A |
T |
15: 74,722,904 (GRCm39) |
F498Y |
probably damaging |
Het |
Dnpep |
A |
G |
1: 75,292,332 (GRCm39) |
I162T |
probably damaging |
Het |
Efcab9 |
T |
C |
11: 32,472,950 (GRCm39) |
I166V |
probably benign |
Het |
Ep400 |
A |
T |
5: 110,845,242 (GRCm39) |
|
probably null |
Het |
Gata6 |
G |
A |
18: 11,054,220 (GRCm39) |
G50R |
probably damaging |
Het |
Gm9631 |
G |
A |
11: 121,834,478 (GRCm39) |
|
|
Het |
Grifin |
T |
C |
5: 140,550,455 (GRCm39) |
T20A |
probably benign |
Het |
Hnf4a |
A |
T |
2: 163,408,202 (GRCm39) |
I352F |
probably damaging |
Het |
Ifi204 |
T |
C |
1: 173,576,946 (GRCm39) |
T552A |
possibly damaging |
Het |
Ifi205 |
C |
T |
1: 173,845,180 (GRCm39) |
A201T |
probably damaging |
Het |
Kcnk6 |
A |
G |
7: 28,924,627 (GRCm39) |
V259A |
probably benign |
Het |
Kif21b |
A |
G |
1: 136,079,005 (GRCm39) |
N451S |
probably benign |
Het |
Klhl24 |
T |
A |
16: 19,926,118 (GRCm39) |
Y215* |
probably null |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Mical1 |
A |
G |
10: 41,358,273 (GRCm39) |
K429E |
possibly damaging |
Het |
Misp |
A |
G |
10: 79,663,705 (GRCm39) |
|
probably benign |
Het |
Mon2 |
T |
C |
10: 122,852,352 (GRCm39) |
N1007S |
probably benign |
Het |
Or10v1 |
A |
T |
19: 11,874,186 (GRCm39) |
Y267F |
probably benign |
Het |
Or14a260 |
C |
A |
7: 85,984,870 (GRCm39) |
V245F |
probably damaging |
Het |
Or51v8 |
A |
T |
7: 103,319,682 (GRCm39) |
C185* |
probably null |
Het |
Or8k41 |
T |
A |
2: 86,313,259 (GRCm39) |
I276F |
probably damaging |
Het |
Pex6 |
C |
A |
17: 47,035,361 (GRCm39) |
T840N |
possibly damaging |
Het |
Prox1 |
C |
T |
1: 189,893,327 (GRCm39) |
A373T |
probably benign |
Het |
Serpina3n |
T |
C |
12: 104,379,777 (GRCm39) |
V390A |
possibly damaging |
Het |
Sirpb1a |
A |
G |
3: 15,491,398 (GRCm39) |
F23S |
probably benign |
Het |
Slc44a3 |
T |
C |
3: 121,283,906 (GRCm39) |
T449A |
probably benign |
Het |
Smad6 |
G |
A |
9: 63,860,800 (GRCm39) |
|
probably benign |
Het |
Sos2 |
C |
T |
12: 69,663,764 (GRCm39) |
M573I |
probably benign |
Het |
St8sia1 |
A |
T |
6: 142,774,661 (GRCm39) |
I306N |
probably damaging |
Het |
Tnks1bp1 |
T |
C |
2: 84,902,125 (GRCm39) |
S1674P |
possibly damaging |
Het |
Trim47 |
G |
A |
11: 115,997,027 (GRCm39) |
R576W |
probably damaging |
Het |
Wdr86 |
A |
T |
5: 24,927,702 (GRCm39) |
I79N |
probably damaging |
Het |
Wwp2 |
T |
A |
8: 108,276,447 (GRCm39) |
V473D |
probably damaging |
Het |
Zc3h12a |
T |
C |
4: 125,013,581 (GRCm39) |
T428A |
probably benign |
Het |
Zfp592 |
A |
G |
7: 80,687,993 (GRCm39) |
E973G |
probably damaging |
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 |
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 |
2015-04-16 |