Incidental Mutation 'R7228:Rap1gds1'
| ID |
562278 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rap1gds1
|
| Ensembl Gene |
ENSMUSG00000028149 |
| Gene Name |
RAP1, GTP-GDP dissociation stimulator 1 |
| Synonyms |
GDS1 |
| MMRRC Submission |
045300-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.636)
|
| Stock # |
R7228 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
138631663-138780962 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 138663228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 373
(G373R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029796]
[ENSMUST00000098574]
[ENSMUST00000196106]
[ENSMUST00000196280]
[ENSMUST00000200396]
|
| AlphaFold |
E9Q912 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029796
AA Change: G324R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029796
Gene: ENSMUSG00000028149
AA Change: G324R
| 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 damaging
Transcript: ENSMUST00000098574
AA Change: G373R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096173
Gene: ENSMUSG00000028149
AA Change: G373R
| 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 damaging
Transcript: ENSMUST00000196280
AA Change: G373R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143181
Gene: ENSMUSG00000028149
AA Change: G373R
| 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 |
probably damaging
Transcript: ENSMUST00000200396
AA Change: G324R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143517
Gene: ENSMUSG00000028149
AA Change: G324R
| 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 |
0.1430 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,247,653 (GRCm39) |
F2467I |
probably benign |
Het |
| Acod1 |
A |
G |
14: 103,286,765 (GRCm39) |
T23A |
probably benign |
Het |
| Adam2 |
T |
A |
14: 66,291,361 (GRCm39) |
K306* |
probably null |
Het |
| Adcy10 |
A |
C |
1: 165,337,841 (GRCm39) |
I152L |
probably damaging |
Het |
| Amigo1 |
T |
C |
3: 108,094,546 (GRCm39) |
L15P |
probably benign |
Het |
| Aqp2 |
A |
G |
15: 99,480,005 (GRCm39) |
N156S |
probably benign |
Het |
| AU041133 |
A |
G |
10: 81,987,105 (GRCm39) |
K253E |
possibly damaging |
Het |
| Cacna1s |
A |
G |
1: 135,998,797 (GRCm39) |
T231A |
possibly damaging |
Het |
| Carf |
A |
T |
1: 60,148,553 (GRCm39) |
N83I |
probably damaging |
Het |
| Ccdc121rt1 |
T |
C |
1: 181,338,532 (GRCm39) |
K140R |
probably benign |
Het |
| Cdc42bpb |
C |
T |
12: 111,271,527 (GRCm39) |
V1111M |
possibly damaging |
Het |
| Cep78 |
A |
G |
19: 15,946,561 (GRCm39) |
S424P |
probably benign |
Het |
| Cfap74 |
G |
A |
4: 155,549,507 (GRCm39) |
V123M |
unknown |
Het |
| Crot |
T |
A |
5: 9,026,051 (GRCm39) |
N312I |
probably damaging |
Het |
| Cyp2c69 |
C |
A |
19: 39,869,610 (GRCm39) |
M136I |
possibly damaging |
Het |
| Cyp4f39 |
A |
G |
17: 32,710,803 (GRCm39) |
D454G |
probably damaging |
Het |
| Dnaja4 |
A |
T |
9: 54,621,569 (GRCm39) |
H298L |
possibly damaging |
Het |
| Eif2ak4 |
C |
T |
2: 118,287,638 (GRCm39) |
T1081M |
probably damaging |
Het |
| Eif3j2 |
T |
C |
18: 43,610,574 (GRCm39) |
K80E |
probably damaging |
Het |
| Elp4 |
T |
A |
2: 105,622,647 (GRCm39) |
I351F |
probably damaging |
Het |
| Fbxw26 |
C |
G |
9: 109,554,012 (GRCm39) |
G209A |
possibly damaging |
Het |
| Fsip2 |
T |
A |
2: 82,822,651 (GRCm39) |
V6128D |
possibly damaging |
Het |
| Gli3 |
A |
G |
13: 15,899,087 (GRCm39) |
T825A |
probably benign |
Het |
| Gm2042 |
A |
G |
12: 87,924,719 (GRCm39) |
E60G |
probably benign |
Het |
| Gm26566 |
G |
T |
4: 88,640,542 (GRCm39) |
R111L |
unknown |
Het |
| Gm3138 |
C |
A |
14: 15,632,269 (GRCm39) |
H147Q |
probably damaging |
Het |
| Gucy1b1 |
T |
A |
3: 81,940,581 (GRCm39) |
N615I |
unknown |
Het |
| Ighv14-1 |
A |
T |
12: 113,895,981 (GRCm39) |
F8I |
not run |
Het |
| Kcnh8 |
C |
T |
17: 53,263,744 (GRCm39) |
T747I |
probably benign |
Het |
| Kctd1 |
T |
A |
18: 15,195,469 (GRCm39) |
S385C |
possibly damaging |
Het |
| Lmo7 |
T |
A |
14: 102,133,971 (GRCm39) |
M672K |
probably damaging |
Het |
| Lrrc69 |
T |
A |
4: 14,775,027 (GRCm39) |
K80N |
probably damaging |
Het |
| Map2k5 |
C |
T |
9: 63,265,304 (GRCm39) |
D75N |
probably damaging |
Het |
| Matr3 |
T |
C |
18: 35,695,537 (GRCm39) |
V4A |
unknown |
Het |
| Megf10 |
T |
C |
18: 57,322,661 (GRCm39) |
C69R |
probably damaging |
Het |
| Mettl1 |
A |
G |
10: 126,881,152 (GRCm39) |
E221G |
probably benign |
Het |
| Mkrn3 |
C |
A |
7: 62,069,415 (GRCm39) |
R125S |
probably benign |
Het |
| Mlh3 |
A |
T |
12: 85,282,430 (GRCm39) |
L1401Q |
probably benign |
Het |
| Nacad |
T |
C |
11: 6,548,412 (GRCm39) |
I1412V |
probably benign |
Het |
| Nkain4 |
A |
T |
2: 180,596,362 (GRCm39) |
|
probably null |
Het |
| Notch2 |
T |
A |
3: 98,044,633 (GRCm39) |
C1518* |
probably null |
Het |
| Npw |
A |
G |
17: 24,877,065 (GRCm39) |
V112A |
probably benign |
Het |
| Or10a5 |
A |
T |
7: 106,636,307 (GRCm39) |
H315L |
probably benign |
Het |
| Or2v1 |
T |
A |
11: 49,025,706 (GRCm39) |
M229K |
possibly damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,373,059 (GRCm39) |
T2359A |
probably benign |
Het |
| Pdzd2 |
T |
A |
15: 12,458,231 (GRCm39) |
K37* |
probably null |
Het |
| Phkb |
T |
G |
8: 86,569,636 (GRCm39) |
|
probably benign |
Het |
| Pou2af2 |
T |
C |
9: 51,202,956 (GRCm39) |
D66G |
probably damaging |
Het |
| Prrc2b |
C |
A |
2: 32,104,318 (GRCm39) |
Y1265* |
probably null |
Het |
| Rab31 |
T |
A |
17: 66,024,548 (GRCm39) |
M44L |
probably benign |
Het |
| Rapgef2 |
T |
C |
3: 78,976,525 (GRCm39) |
D1279G |
probably benign |
Het |
| Rbm46 |
T |
C |
3: 82,749,840 (GRCm39) |
D468G |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,692,197 (GRCm39) |
E1059G |
probably damaging |
Het |
| Sez6l2 |
T |
C |
7: 126,552,897 (GRCm39) |
L221P |
probably damaging |
Het |
| Slit3 |
T |
A |
11: 35,490,245 (GRCm39) |
V361E |
probably damaging |
Het |
| Soat1 |
G |
A |
1: 156,261,808 (GRCm39) |
S400F |
probably damaging |
Het |
| Spp1 |
T |
C |
5: 104,588,311 (GRCm39) |
S238P |
probably damaging |
Het |
| Tdpoz8 |
T |
A |
3: 92,980,993 (GRCm39) |
C4S |
possibly damaging |
Het |
| Tfap2c |
T |
C |
2: 172,393,492 (GRCm39) |
S136P |
probably benign |
Het |
| Tgfbr2 |
T |
C |
9: 115,939,011 (GRCm39) |
E297G |
probably damaging |
Het |
| Trim2 |
T |
C |
3: 84,099,488 (GRCm39) |
D228G |
probably benign |
Het |
| Wdr82 |
C |
A |
9: 106,053,871 (GRCm39) |
A74E |
probably benign |
Het |
| Zfp451 |
T |
C |
1: 33,842,475 (GRCm39) |
T136A |
unknown |
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 |
|
|
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 |
|
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'- TCTGCCCCACTTTGAGACAG -3'
(R):5'- GGCAGAATATTAGACTTCTGATCTG -3'
Sequencing Primer
(F):5'- TGAGACAGCATTCTGGAACTC -3'
(R):5'- AGACTTCTGATCTGGATAGGTGGAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation