Incidental Mutation 'R0006:Rap1gds1'
| ID |
19159 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rap1gds1
|
| Ensembl Gene |
ENSMUSG00000028149 |
| Gene Name |
RAP1, GTP-GDP dissociation stimulator 1 |
| Synonyms |
GDS1 |
| MMRRC Submission |
041980-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.636)
|
| Stock # |
R0006 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
138631663-138780962 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 138689632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143181
(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 null
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 null
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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 77.9%
- 3x: 66.3%
- 10x: 36.9%
- 20x: 17.4%
|
| Validation Efficiency |
95% (74/78) |
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Appl2 |
A |
G |
10: 83,438,762 (GRCm39) |
F556L |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 4,992,030 (GRCm39) |
S210T |
possibly damaging |
Het |
| Aurka |
A |
G |
2: 172,201,673 (GRCm39) |
|
probably null |
Het |
| Chd8 |
A |
G |
14: 52,472,750 (GRCm39) |
I351T |
possibly damaging |
Het |
| Chid1 |
T |
A |
7: 141,076,339 (GRCm39) |
|
probably benign |
Het |
| Dnase2b |
T |
A |
3: 146,288,244 (GRCm39) |
I284F |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,267,999 (GRCm39) |
T5325I |
probably benign |
Het |
| Erbb3 |
A |
G |
10: 128,409,279 (GRCm39) |
|
probably null |
Het |
| Fancl |
A |
G |
11: 26,419,695 (GRCm39) |
N316S |
possibly damaging |
Het |
| Gabrd |
C |
A |
4: 155,473,058 (GRCm39) |
V72L |
probably damaging |
Het |
| Hephl1 |
T |
A |
9: 14,988,060 (GRCm39) |
T683S |
probably benign |
Het |
| Jazf1 |
A |
G |
6: 52,871,071 (GRCm39) |
|
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,927,201 (GRCm39) |
S1219T |
probably benign |
Het |
| L3mbtl1 |
A |
T |
2: 162,806,489 (GRCm39) |
Y460F |
possibly damaging |
Het |
| Map1b |
C |
T |
13: 99,571,810 (GRCm39) |
V304M |
probably damaging |
Het |
| Msantd4 |
A |
G |
9: 4,384,099 (GRCm39) |
E140G |
probably damaging |
Het |
| Myo16 |
A |
G |
8: 10,525,988 (GRCm39) |
K843E |
probably damaging |
Het |
| Rsph4a |
T |
C |
10: 33,785,144 (GRCm39) |
C148R |
probably damaging |
Het |
| Slc7a9 |
A |
T |
7: 35,169,525 (GRCm39) |
|
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,073,855 (GRCm39) |
S1405P |
probably damaging |
Het |
| Tex35 |
T |
C |
1: 156,927,314 (GRCm39) |
K154E |
possibly damaging |
Het |
| Tpm3 |
T |
A |
3: 89,994,968 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,158,960 (GRCm39) |
F2438L |
probably benign |
Het |
| Wfdc8 |
T |
C |
2: 164,440,984 (GRCm39) |
D253G |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,841,861 (GRCm39) |
|
probably benign |
Het |
| Zfp687 |
A |
G |
3: 94,918,767 (GRCm39) |
I335T |
probably 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 |
|
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 |
|
|
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 |
2013-03-25 |
Incidental Mutation