Incidental Mutation 'IGL01670:Rapgef3'
| ID |
103439 |
| 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: 0.267)
|
| Stock # |
IGL01670
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
97642651-97665853 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 97647543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 766
(H766N)
|
| 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: H774N
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000116426
Gene: ENSMUSG00000022469
AA Change: H774N
| 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: H774N
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000120126
Gene: ENSMUSG00000022469
AA Change: H774N
| 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: H766N
PolyPhen 2
Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000118148
Gene: ENSMUSG00000022469
AA Change: H766N
| 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
AA Change: H64N
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000135317
Gene: ENSMUSG00000022469
AA Change: H64N
| 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: H732N
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000135238
Gene: ENSMUSG00000022469
AA Change: H732N
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy1 |
A |
C |
9: 106,314,006 (GRCm39) |
|
probably benign |
Het |
| Add1 |
C |
A |
5: 34,777,407 (GRCm39) |
Q57K |
probably damaging |
Het |
| Alms1 |
A |
G |
6: 85,655,132 (GRCm39) |
E3226G |
probably benign |
Het |
| Arl1 |
G |
T |
10: 88,577,884 (GRCm39) |
R151L |
probably damaging |
Het |
| Cabs1 |
T |
A |
5: 88,127,869 (GRCm39) |
D173E |
possibly damaging |
Het |
| Cdc34b |
T |
C |
11: 94,632,845 (GRCm39) |
L15P |
probably benign |
Het |
| Cdyl2 |
A |
G |
8: 117,351,092 (GRCm39) |
V13A |
probably damaging |
Het |
| Chd7 |
G |
T |
4: 8,827,033 (GRCm39) |
R1026L |
probably damaging |
Het |
| Cldn34b4 |
T |
C |
X: 75,441,195 (GRCm39) |
S151P |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,192,662 (GRCm39) |
I25N |
unknown |
Het |
| Crisp4 |
T |
A |
1: 18,198,901 (GRCm39) |
T178S |
probably benign |
Het |
| Csmd2 |
C |
T |
4: 128,407,164 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
T |
G |
15: 47,475,225 (GRCm39) |
N2454H |
probably damaging |
Het |
| Cytip |
A |
T |
2: 58,023,785 (GRCm39) |
I345N |
probably damaging |
Het |
| Frem2 |
A |
T |
3: 53,564,358 (GRCm39) |
S50T |
possibly damaging |
Het |
| Gm9747 |
C |
T |
1: 82,211,870 (GRCm39) |
|
probably benign |
Het |
| Gpr37 |
A |
G |
6: 25,669,833 (GRCm39) |
F337S |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,394,342 (GRCm39) |
E4182G |
probably damaging |
Het |
| Isyna1 |
C |
T |
8: 71,049,706 (GRCm39) |
P511L |
probably benign |
Het |
| Kdm4a |
T |
C |
4: 118,017,698 (GRCm39) |
Y456C |
probably damaging |
Het |
| Kera |
A |
T |
10: 97,444,939 (GRCm39) |
R99S |
possibly damaging |
Het |
| Larp7-ps |
T |
C |
4: 92,079,737 (GRCm39) |
|
probably null |
Het |
| Mcm2 |
A |
G |
6: 88,864,614 (GRCm39) |
|
probably benign |
Het |
| Myl12a |
T |
C |
17: 71,303,848 (GRCm39) |
T10A |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,550,102 (GRCm39) |
V1876A |
possibly damaging |
Het |
| Nkx6-1 |
T |
A |
5: 101,809,806 (GRCm39) |
Q247L |
probably benign |
Het |
| Nol8 |
A |
C |
13: 49,814,784 (GRCm39) |
K297N |
possibly damaging |
Het |
| Or4c119 |
T |
A |
2: 88,987,261 (GRCm39) |
Y86F |
probably benign |
Het |
| Or51e1 |
A |
T |
7: 102,358,772 (GRCm39) |
Q102L |
probably damaging |
Het |
| Or5w18 |
A |
G |
2: 87,633,224 (GRCm39) |
T164A |
probably benign |
Het |
| Pard3b |
A |
T |
1: 62,250,807 (GRCm39) |
N579Y |
probably damaging |
Het |
| Pdcd11 |
T |
A |
19: 47,094,743 (GRCm39) |
L509H |
probably damaging |
Het |
| Prss29 |
T |
C |
17: 25,541,437 (GRCm39) |
S266P |
probably benign |
Het |
| Rasa1 |
A |
T |
13: 85,373,609 (GRCm39) |
S818T |
probably damaging |
Het |
| Rtn4ip1 |
A |
G |
10: 43,804,322 (GRCm39) |
M1V |
probably null |
Het |
| Sall1 |
A |
T |
8: 89,758,199 (GRCm39) |
V635D |
probably benign |
Het |
| Slc35b4 |
C |
T |
6: 34,147,484 (GRCm39) |
V35I |
probably benign |
Het |
| Slc5a11 |
G |
A |
7: 122,869,172 (GRCm39) |
A587T |
probably benign |
Het |
| Slc6a21 |
T |
C |
7: 44,937,557 (GRCm39) |
V616A |
possibly damaging |
Het |
| Sorl1 |
A |
G |
9: 41,912,788 (GRCm39) |
S1398P |
possibly damaging |
Het |
| Srcap |
A |
G |
7: 127,127,604 (GRCm39) |
K390E |
probably damaging |
Het |
| Sycp2 |
C |
T |
2: 178,019,843 (GRCm39) |
E558K |
probably benign |
Het |
| Tcf20 |
T |
C |
15: 82,739,564 (GRCm39) |
N629S |
possibly damaging |
Het |
| Tmem154 |
A |
G |
3: 84,591,537 (GRCm39) |
Y29C |
probably damaging |
Het |
| Tmtc3 |
A |
G |
10: 100,282,987 (GRCm39) |
I856T |
probably benign |
Het |
| Zswim6 |
A |
G |
13: 107,865,101 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
2014-01-21 |
Incidental Mutation