Incidental Mutation 'R4194:Rap1gds1'
| ID |
374385 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rap1gds1
|
| Ensembl Gene |
ENSMUSG00000028149 |
| Gene Name |
RAP1, GTP-GDP dissociation stimulator 1 |
| Synonyms |
GDS1 |
| MMRRC Submission |
041025-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.657)
|
| Stock # |
R4194 (G1)
|
| Quality Score |
70 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
138631663-138780962 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 138664851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 236
(D236N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143517
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029796]
[ENSMUST00000098574]
[ENSMUST00000196106]
[ENSMUST00000196280]
[ENSMUST00000200396]
|
| AlphaFold |
E9Q912 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029796
AA Change: D236N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029796
Gene: ENSMUSG00000028149
AA Change: D236N
| 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: D285N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000096173
Gene: ENSMUSG00000028149
AA Change: D285N
| 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: D285N
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143181
Gene: ENSMUSG00000028149
AA Change: D285N
| 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 damaging
Transcript: ENSMUST00000200396
AA Change: D236N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143517
Gene: ENSMUSG00000028149
AA Change: D236N
| 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 |
0.2288 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (54/55) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
A |
T |
4: 85,972,245 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
C |
A |
13: 81,647,115 (GRCm39) |
V3142F |
probably damaging |
Het |
| Alms1 |
C |
T |
6: 85,654,972 (GRCm39) |
Q3173* |
probably null |
Het |
| Ankrd26 |
A |
G |
6: 118,500,639 (GRCm39) |
F944S |
probably benign |
Het |
| Arhgap11a |
G |
T |
2: 113,672,339 (GRCm39) |
H210N |
probably benign |
Het |
| Brca1 |
T |
C |
11: 101,416,113 (GRCm39) |
N674D |
probably benign |
Het |
| Bud13 |
T |
A |
9: 46,209,793 (GRCm39) |
V634E |
probably damaging |
Het |
| Capn13 |
C |
T |
17: 73,646,479 (GRCm39) |
M311I |
possibly damaging |
Het |
| Cdyl2 |
T |
C |
8: 117,305,903 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,720,501 (GRCm39) |
|
probably null |
Het |
| Col6a5 |
C |
G |
9: 105,823,113 (GRCm39) |
E81D |
unknown |
Het |
| Ctbs |
C |
A |
3: 146,156,368 (GRCm39) |
H38N |
probably benign |
Het |
| Ctnnd1 |
T |
C |
2: 84,434,045 (GRCm39) |
D897G |
possibly damaging |
Het |
| Cyp2d41-ps |
T |
C |
15: 82,666,154 (GRCm39) |
|
noncoding transcript |
Het |
| Dnttip2 |
G |
A |
3: 122,074,410 (GRCm39) |
E616K |
probably damaging |
Het |
| Epb41l5 |
A |
T |
1: 119,535,823 (GRCm39) |
S348R |
probably damaging |
Het |
| Fam185a |
A |
G |
5: 21,630,452 (GRCm39) |
H96R |
probably benign |
Het |
| Fbxo11 |
T |
C |
17: 88,316,536 (GRCm39) |
D279G |
possibly damaging |
Het |
| Gm3952 |
C |
A |
8: 129,486,346 (GRCm39) |
G1578V |
probably damaging |
Het |
| Grb7 |
T |
A |
11: 98,345,881 (GRCm39) |
|
probably benign |
Het |
| Grik1 |
A |
G |
16: 87,743,616 (GRCm39) |
V537A |
probably benign |
Het |
| H2-Eb2 |
T |
A |
17: 34,552,300 (GRCm39) |
N48K |
probably benign |
Het |
| Kank3 |
A |
G |
17: 34,041,237 (GRCm39) |
|
probably benign |
Het |
| Kifap3 |
T |
C |
1: 163,743,394 (GRCm39) |
S792P |
probably benign |
Het |
| Klhl35 |
A |
T |
7: 99,123,058 (GRCm39) |
|
probably null |
Het |
| Lpxn |
T |
C |
19: 12,810,599 (GRCm39) |
F348L |
probably damaging |
Het |
| Mef2d |
A |
G |
3: 88,065,610 (GRCm39) |
Y114C |
possibly damaging |
Het |
| Mfap3 |
T |
A |
11: 57,420,529 (GRCm39) |
L170H |
probably damaging |
Het |
| Mical1 |
C |
G |
10: 41,357,624 (GRCm39) |
F410L |
possibly damaging |
Het |
| Mppe1 |
G |
A |
18: 67,361,139 (GRCm39) |
S206F |
probably benign |
Het |
| Myo9b |
C |
T |
8: 71,812,268 (GRCm39) |
A2013V |
possibly damaging |
Het |
| Phactr3 |
T |
C |
2: 177,924,902 (GRCm39) |
V243A |
possibly damaging |
Het |
| Ppp4r4 |
T |
C |
12: 103,524,704 (GRCm39) |
L92P |
probably damaging |
Het |
| Prss59 |
A |
T |
6: 40,898,005 (GRCm39) |
V226E |
probably damaging |
Het |
| Rnf8 |
T |
C |
17: 29,850,642 (GRCm39) |
|
probably benign |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,434 (GRCm39) |
|
noncoding transcript |
Het |
| Sfta2 |
T |
C |
17: 35,939,057 (GRCm39) |
|
probably null |
Het |
| Sipa1l2 |
T |
A |
8: 126,218,411 (GRCm39) |
T309S |
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,706,013 (GRCm39) |
D1186G |
probably benign |
Het |
| Sptb |
C |
A |
12: 76,659,784 (GRCm39) |
V1039F |
probably benign |
Het |
| Sycp3 |
T |
C |
10: 88,299,237 (GRCm39) |
V68A |
probably benign |
Het |
| Tas1r3 |
T |
C |
4: 155,947,442 (GRCm39) |
E81G |
probably damaging |
Het |
| Ttc3 |
G |
A |
16: 94,223,136 (GRCm39) |
R253H |
probably damaging |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,449 (GRCm39) |
T203A |
possibly damaging |
Het |
| Vtcn1 |
A |
T |
3: 100,795,525 (GRCm39) |
E164V |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,461,817 (GRCm39) |
T1121A |
unknown |
Het |
| Zfp473 |
T |
C |
7: 44,381,676 (GRCm39) |
I885V |
probably benign |
Het |
| Zfp990 |
A |
T |
4: 145,263,547 (GRCm39) |
|
probably null |
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 |
|
|
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'- TCGAGTTTTCAAGAGCCATCC -3'
(R):5'- GTTAGAATTCTTCATGACAGGTCAC -3'
Sequencing Primer
(F):5'- CGCTATTACAGGTCTTCAGATACTG -3'
(R):5'- CAGGTCACTGTGCAGGG -3'
|
| Posted On |
2016-03-02 |
Incidental Mutation