Incidental Mutation 'IGL02033:Rap1gds1'
ID |
184438 |
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 # |
IGL02033
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
138631663-138780962 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 138661232 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143517
(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 |
probably benign
Transcript: ENSMUST00000098574
|
SMART Domains |
Protein: ENSMUSP00000096173 Gene: ENSMUSG00000028149
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 |
probably benign
Transcript: ENSMUST00000196280
|
SMART Domains |
Protein: ENSMUSP00000143181 Gene: ENSMUSG00000028149
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
A |
13: 77,407,995 (GRCm39) |
F107L |
possibly damaging |
Het |
Adam30 |
G |
T |
3: 98,068,787 (GRCm39) |
V79F |
probably benign |
Het |
Akap8l |
T |
C |
17: 32,557,246 (GRCm39) |
R122G |
probably damaging |
Het |
Apc |
T |
A |
18: 34,443,772 (GRCm39) |
S570R |
probably damaging |
Het |
Btnl10 |
A |
G |
11: 58,810,141 (GRCm39) |
E94G |
probably damaging |
Het |
Col25a1 |
A |
T |
3: 130,182,597 (GRCm39) |
|
probably benign |
Het |
Cubn |
A |
C |
2: 13,344,657 (GRCm39) |
I2208S |
probably damaging |
Het |
Cyp17a1 |
A |
T |
19: 46,661,046 (GRCm39) |
Y79* |
probably null |
Het |
Dach1 |
T |
A |
14: 98,138,865 (GRCm39) |
H474L |
possibly damaging |
Het |
Dnai4 |
G |
T |
4: 102,923,490 (GRCm39) |
N123K |
possibly damaging |
Het |
Dscaml1 |
A |
T |
9: 45,595,080 (GRCm39) |
I728F |
probably damaging |
Het |
Erp29 |
G |
T |
5: 121,590,305 (GRCm39) |
S33R |
probably benign |
Het |
Fat3 |
A |
C |
9: 15,826,648 (GRCm39) |
S4435A |
possibly damaging |
Het |
Fbxw13 |
T |
C |
9: 109,010,484 (GRCm39) |
I385V |
probably damaging |
Het |
Hspg2 |
T |
C |
4: 137,279,565 (GRCm39) |
M3160T |
probably benign |
Het |
Lrrc28 |
C |
T |
7: 67,209,605 (GRCm39) |
|
probably null |
Het |
Myh15 |
T |
C |
16: 48,965,707 (GRCm39) |
V1204A |
probably benign |
Het |
Or5b104 |
T |
C |
19: 13,072,221 (GRCm39) |
S91G |
possibly damaging |
Het |
Pcare |
T |
A |
17: 72,058,076 (GRCm39) |
I534F |
probably damaging |
Het |
Pde5a |
G |
A |
3: 122,596,710 (GRCm39) |
E434K |
possibly damaging |
Het |
Pgr |
T |
A |
9: 8,965,111 (GRCm39) |
V753E |
probably damaging |
Het |
Pik3c3 |
T |
A |
18: 30,445,703 (GRCm39) |
S563R |
possibly damaging |
Het |
Ppt2 |
A |
G |
17: 34,844,728 (GRCm39) |
|
probably benign |
Het |
Prg4 |
T |
A |
1: 150,331,619 (GRCm39) |
|
probably benign |
Het |
Pygo1 |
G |
T |
9: 72,852,683 (GRCm39) |
S290I |
possibly damaging |
Het |
Ralgapa1 |
G |
T |
12: 55,689,262 (GRCm39) |
H1946N |
possibly damaging |
Het |
Sema4g |
G |
A |
19: 44,985,854 (GRCm39) |
R256H |
probably damaging |
Het |
Slc22a12 |
T |
G |
19: 6,587,844 (GRCm39) |
D370A |
probably benign |
Het |
Spata16 |
G |
A |
3: 26,967,483 (GRCm39) |
|
probably null |
Het |
Trim44 |
A |
G |
2: 102,230,521 (GRCm39) |
M170T |
possibly damaging |
Het |
Trpv6 |
A |
T |
6: 41,604,551 (GRCm39) |
|
probably benign |
Het |
Vwa8 |
T |
G |
14: 79,221,649 (GRCm39) |
L535R |
possibly damaging |
Het |
|
Other mutations in Rap1gds1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00825:Rap1gds1
|
APN |
3 |
138,689,588 (GRCm39) |
missense |
possibly damaging |
0.95 |
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 |
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 |
2014-05-07 |