Incidental Mutation 'R0006:Rap1gds1'
ID |
43626 |
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 |
225 |
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: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.3%
|
Validation Efficiency |
97% (67/69) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aebp1 |
A |
G |
11: 5,813,935 (GRCm39) |
|
probably benign |
Het |
Aldh3a1 |
G |
A |
11: 61,107,927 (GRCm39) |
V324M |
probably damaging |
Het |
Als2cl |
T |
A |
9: 110,723,686 (GRCm39) |
L694Q |
possibly damaging |
Het |
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 |
Boc |
C |
T |
16: 44,316,812 (GRCm39) |
V444I |
probably benign |
Het |
Cfap61 |
G |
A |
2: 145,919,232 (GRCm39) |
V655I |
probably benign |
Het |
Chd8 |
A |
G |
14: 52,472,750 (GRCm39) |
I351T |
possibly damaging |
Het |
Chid1 |
T |
A |
7: 141,076,339 (GRCm39) |
|
probably benign |
Het |
Cyp3a41a |
T |
A |
5: 145,641,606 (GRCm39) |
H288L |
probably benign |
Het |
Dnase2b |
T |
A |
3: 146,288,244 (GRCm39) |
I284F |
probably damaging |
Het |
Dock2 |
A |
G |
11: 34,262,453 (GRCm39) |
|
probably benign |
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 |
Farsa |
G |
T |
8: 85,587,934 (GRCm39) |
|
probably benign |
Het |
Fibcd1 |
T |
G |
2: 31,728,599 (GRCm39) |
D86A |
probably damaging |
Het |
Gab1 |
A |
T |
8: 81,496,359 (GRCm39) |
M617K |
possibly damaging |
Het |
Gabrd |
C |
A |
4: 155,473,058 (GRCm39) |
V72L |
probably damaging |
Het |
Ggh |
C |
A |
4: 20,054,155 (GRCm39) |
T150K |
possibly damaging |
Het |
Gnb3 |
G |
A |
6: 124,812,767 (GRCm39) |
|
probably benign |
Het |
Hephl1 |
T |
A |
9: 14,988,060 (GRCm39) |
T683S |
probably benign |
Het |
Hmcn1 |
G |
A |
1: 150,684,427 (GRCm39) |
P381L |
probably damaging |
Het |
Hspa8 |
T |
G |
9: 40,715,925 (GRCm39) |
N544K |
probably benign |
Het |
Hspg2 |
C |
T |
4: 137,247,242 (GRCm39) |
T1155I |
probably damaging |
Het |
Igdcc4 |
C |
T |
9: 65,042,382 (GRCm39) |
|
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 |
Lcor |
A |
G |
19: 41,573,338 (GRCm39) |
T698A |
probably benign |
Het |
Lyrm7 |
T |
A |
11: 54,739,423 (GRCm39) |
T76S |
probably benign |
Het |
Map1b |
C |
T |
13: 99,571,810 (GRCm39) |
V304M |
probably damaging |
Het |
Mcub |
A |
C |
3: 129,727,414 (GRCm39) |
|
probably benign |
Het |
Muc13 |
T |
C |
16: 33,623,518 (GRCm39) |
S271P |
probably damaging |
Het |
Myo16 |
A |
G |
8: 10,525,988 (GRCm39) |
K843E |
probably damaging |
Het |
Nav2 |
A |
G |
7: 49,102,978 (GRCm39) |
E531G |
possibly damaging |
Het |
Niban3 |
A |
G |
8: 72,057,688 (GRCm39) |
|
probably benign |
Het |
Nup188 |
T |
C |
2: 30,212,035 (GRCm39) |
V553A |
probably benign |
Het |
Or1e16 |
A |
G |
11: 73,286,314 (GRCm39) |
F178S |
probably damaging |
Het |
Or1e1c |
A |
G |
11: 73,266,414 (GRCm39) |
M283V |
possibly damaging |
Het |
Or52d1 |
A |
G |
7: 103,755,527 (GRCm39) |
I14V |
probably benign |
Het |
Or6z1 |
A |
G |
7: 6,504,610 (GRCm39) |
I205T |
possibly damaging |
Het |
Or8b9 |
T |
A |
9: 37,766,516 (GRCm39) |
V134D |
possibly damaging |
Het |
P4ha3 |
C |
T |
7: 99,968,155 (GRCm39) |
R378* |
probably null |
Het |
Rbfox1 |
T |
A |
16: 7,148,284 (GRCm39) |
S244R |
probably benign |
Het |
Rpp40 |
G |
A |
13: 36,080,718 (GRCm39) |
P339S |
probably damaging |
Het |
Rsph4a |
T |
C |
10: 33,785,144 (GRCm39) |
C148R |
probably damaging |
Het |
Skint5 |
T |
C |
4: 113,751,059 (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 |
Thada |
T |
C |
17: 84,533,468 (GRCm39) |
N1661S |
probably benign |
Het |
Tle4 |
A |
G |
19: 14,444,078 (GRCm39) |
|
probably benign |
Het |
Tnxb |
T |
C |
17: 34,901,266 (GRCm39) |
S1027P |
probably benign |
Het |
Tpm3 |
T |
A |
3: 89,994,968 (GRCm39) |
|
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,158,960 (GRCm39) |
F2438L |
probably benign |
Het |
Uggt2 |
A |
T |
14: 119,287,075 (GRCm39) |
F640L |
probably benign |
Het |
Vmn1r20 |
T |
G |
6: 57,409,290 (GRCm39) |
H205Q |
probably damaging |
Het |
Wbp2 |
T |
C |
11: 115,970,614 (GRCm39) |
|
probably null |
Het |
Xirp1 |
T |
C |
9: 119,846,520 (GRCm39) |
I788V |
probably benign |
Het |
Zc3hav1 |
A |
G |
6: 38,296,637 (GRCm39) |
|
probably null |
Het |
Zfp687 |
A |
G |
3: 94,918,767 (GRCm39) |
I335T |
probably damaging |
Het |
Zfpm1 |
A |
G |
8: 123,061,227 (GRCm39) |
Y264C |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGGCAACCCTTAAAGCTGAGC -3'
(R):5'- CTCCAGTTTGCACAGCGAGGAT -3'
Sequencing Primer
(F):5'- GTGTAATTTCCCAACACCGTAAAG -3'
(R):5'- CTAAAAAGCAGTTGTCTCCTTACC -3'
|
Posted On |
2013-05-29 |