Incidental Mutation 'IGL00825:Rap1gds1'
| ID |
13751 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rap1gds1
|
| Ensembl Gene |
ENSMUSG00000028149 |
| Gene Name |
RAP1, GTP-GDP dissociation stimulator 1 |
| Synonyms |
GDS1 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.657)
|
| Stock # |
IGL00825
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
138631663-138780962 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 138689588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 135
(I135F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029796]
[ENSMUST00000098574]
[ENSMUST00000196106]
[ENSMUST00000196280]
[ENSMUST00000200396]
|
| AlphaFold |
E9Q912 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029796
|
| SMART Domains |
Protein: ENSMUSP00000029796
Gene: ENSMUSG00000028149
| Domain | Start | End | E-Value | Type |
|---|
|
ARM
|
77 |
118 |
1.36e-6 |
SMART |
|
ARM
|
119 |
162 |
7.98e-4 |
SMART |
|
ARM
|
297 |
341 |
2.4e-7 |
SMART |
|
ARM
|
342 |
382 |
6.3e1 |
SMART |
|
ARM
|
430 |
470 |
6.39e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098574
AA Change: I135F
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000096173
Gene: ENSMUSG00000028149
AA Change: I135F
| Domain | Start | End | E-Value | Type |
|---|
|
ARM
|
77 |
118 |
1.36e-6 |
SMART |
|
ARM
|
169 |
211 |
1.74e-4 |
SMART |
|
ARM
|
346 |
390 |
2.4e-7 |
SMART |
|
ARM
|
391 |
431 |
6.3e1 |
SMART |
|
ARM
|
479 |
519 |
6.39e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196106
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196280
AA Change: I135F
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143181
Gene: ENSMUSG00000028149
AA Change: I135F
| Domain | Start | End | E-Value | Type |
|---|
|
ARM
|
77 |
118 |
1.36e-6 |
SMART |
|
ARM
|
169 |
211 |
1.74e-4 |
SMART |
|
ARM
|
346 |
390 |
2.4e-7 |
SMART |
|
ARM
|
391 |
431 |
6.3e1 |
SMART |
|
ARM
|
478 |
518 |
6.39e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200262
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200396
|
| SMART Domains |
Protein: ENSMUSP00000143517
Gene: ENSMUSG00000028149
| Domain | Start | End | E-Value | Type |
|---|
|
ARM
|
77 |
118 |
6.7e-9 |
SMART |
|
ARM
|
119 |
162 |
3.9e-6 |
SMART |
|
ARM
|
297 |
341 |
1.2e-9 |
SMART |
|
ARM
|
342 |
382 |
3.1e-1 |
SMART |
|
ARM
|
430 |
470 |
3.1e-5 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The smg GDP dissociation stimulator (smgGDS) protein is a stimulatory GDP/GTP exchange protein with GTPase activity (Riess et al., 1993 [PubMed 8262526]).[supplied by OMIM, Feb 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd3 |
C |
T |
18: 10,704,657 (GRCm39) |
V129M |
probably benign |
Het |
| Casp8 |
G |
A |
1: 58,868,165 (GRCm39) |
S202N |
probably benign |
Het |
| Cimap1c |
A |
G |
9: 56,758,975 (GRCm39) |
I60T |
probably benign |
Het |
| Clec2g |
C |
A |
6: 128,957,144 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
T |
C |
1: 46,263,811 (GRCm39) |
Y2098H |
probably damaging |
Het |
| Dzip3 |
T |
C |
16: 48,748,778 (GRCm39) |
K1053E |
probably damaging |
Het |
| Ern1 |
T |
C |
11: 106,312,793 (GRCm39) |
K196R |
probably benign |
Het |
| Jcad |
A |
T |
18: 4,673,516 (GRCm39) |
Y426F |
probably damaging |
Het |
| Kansl1l |
T |
C |
1: 66,840,671 (GRCm39) |
T210A |
probably benign |
Het |
| Map2k2 |
G |
A |
10: 80,954,052 (GRCm39) |
V173I |
probably benign |
Het |
| P3h2 |
A |
G |
16: 25,811,548 (GRCm39) |
I225T |
probably damaging |
Het |
| Pld2 |
G |
A |
11: 70,442,006 (GRCm39) |
W337* |
probably null |
Het |
| Ppp2r2b |
C |
T |
18: 42,778,840 (GRCm39) |
V429M |
probably damaging |
Het |
| Pprc1 |
G |
T |
19: 46,059,845 (GRCm39) |
|
probably benign |
Het |
| Ptpn4 |
A |
G |
1: 119,587,655 (GRCm39) |
|
probably benign |
Het |
| Rasa2 |
A |
T |
9: 96,452,772 (GRCm39) |
N371K |
probably benign |
Het |
| Rbbp8 |
A |
G |
18: 11,855,664 (GRCm39) |
T604A |
probably benign |
Het |
| Safb2 |
A |
G |
17: 56,878,208 (GRCm39) |
|
probably null |
Het |
| Sec23ip |
C |
A |
7: 128,369,333 (GRCm39) |
L686I |
probably damaging |
Het |
| Slc22a6 |
T |
C |
19: 8,595,721 (GRCm39) |
V21A |
possibly damaging |
Het |
| Slco1c1 |
A |
T |
6: 141,487,868 (GRCm39) |
N79Y |
probably damaging |
Het |
| Tbl1xr1 |
G |
T |
3: 22,243,950 (GRCm39) |
|
probably null |
Het |
| Zfp961 |
T |
A |
8: 72,721,888 (GRCm39) |
C134S |
possibly damaging |
Het |
|
| Other mutations in Rap1gds1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01314:Rap1gds1
|
APN |
3 |
138,756,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01450:Rap1gds1
|
APN |
3 |
138,671,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02033:Rap1gds1
|
APN |
3 |
138,661,232 (GRCm39) |
splice site |
probably benign |
|
|
IGL02658:Rap1gds1
|
APN |
3 |
138,663,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02745:Rap1gds1
|
APN |
3 |
138,662,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02880:Rap1gds1
|
APN |
3 |
138,651,517 (GRCm39) |
missense |
probably benign |
0.16 |
|
PIT4305001:Rap1gds1
|
UTSW |
3 |
138,662,061 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0006:Rap1gds1
|
UTSW |
3 |
138,689,632 (GRCm39) |
splice site |
probably null |
|
|
R0006:Rap1gds1
|
UTSW |
3 |
138,689,632 (GRCm39) |
splice site |
probably null |
|
|
R0585:Rap1gds1
|
UTSW |
3 |
138,727,633 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1573:Rap1gds1
|
UTSW |
3 |
138,671,624 (GRCm39) |
splice site |
probably null |
|
|
R1793:Rap1gds1
|
UTSW |
3 |
138,756,314 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1960:Rap1gds1
|
UTSW |
3 |
138,756,317 (GRCm39) |
missense |
probably null |
0.28 |
|
R2432:Rap1gds1
|
UTSW |
3 |
138,662,011 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2697:Rap1gds1
|
UTSW |
3 |
138,689,482 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3792:Rap1gds1
|
UTSW |
3 |
138,671,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4031:Rap1gds1
|
UTSW |
3 |
138,756,353 (GRCm39) |
splice site |
probably benign |
|
|
R4194:Rap1gds1
|
UTSW |
3 |
138,664,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4530:Rap1gds1
|
UTSW |
3 |
138,663,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4696:Rap1gds1
|
UTSW |
3 |
138,633,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4909:Rap1gds1
|
UTSW |
3 |
138,689,509 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5000:Rap1gds1
|
UTSW |
3 |
138,662,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5046:Rap1gds1
|
UTSW |
3 |
138,661,181 (GRCm39) |
nonsense |
probably null |
|
|
R5152:Rap1gds1
|
UTSW |
3 |
138,661,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5163:Rap1gds1
|
UTSW |
3 |
138,664,817 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5309:Rap1gds1
|
UTSW |
3 |
138,664,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5312:Rap1gds1
|
UTSW |
3 |
138,664,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5782:Rap1gds1
|
UTSW |
3 |
138,664,840 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5825:Rap1gds1
|
UTSW |
3 |
138,661,136 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6547:Rap1gds1
|
UTSW |
3 |
138,661,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7227:Rap1gds1
|
UTSW |
3 |
138,663,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7228:Rap1gds1
|
UTSW |
3 |
138,663,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7574:Rap1gds1
|
UTSW |
3 |
138,661,976 (GRCm39) |
nonsense |
probably null |
|
|
R7711:Rap1gds1
|
UTSW |
3 |
138,664,874 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8035:Rap1gds1
|
UTSW |
3 |
138,721,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8432:Rap1gds1
|
UTSW |
3 |
138,647,548 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8736:Rap1gds1
|
UTSW |
3 |
138,647,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8768:Rap1gds1
|
UTSW |
3 |
138,647,521 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8901:Rap1gds1
|
UTSW |
3 |
138,663,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9008:Rap1gds1
|
UTSW |
3 |
138,661,177 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9526:Rap1gds1
|
UTSW |
3 |
138,756,317 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF053:Rap1gds1
|
UTSW |
3 |
138,647,418 (GRCm39) |
frame shift |
probably null |
|
|
Z1177:Rap1gds1
|
UTSW |
3 |
138,756,300 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation