Incidental Mutation 'R8035:Rap1gds1'
ID |
618168 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rap1gds1
|
Ensembl Gene |
ENSMUSG00000028149 |
Gene Name |
RAP1, GTP-GDP dissociation stimulator 1 |
Synonyms |
GDS1 |
MMRRC Submission |
067472-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.657)
|
Stock # |
R8035 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
138631663-138780962 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 138721311 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 119
(D119E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096173
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029796]
[ENSMUST00000098574]
[ENSMUST00000196106]
[ENSMUST00000196280]
[ENSMUST00000200396]
|
AlphaFold |
E9Q912 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029796
AA Change: D119E
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000029796 Gene: ENSMUSG00000028149 AA Change: D119E
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: D119E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000096173 Gene: ENSMUSG00000028149 AA Change: D119E
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: D119E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000143181 Gene: ENSMUSG00000028149 AA Change: D119E
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 |
possibly damaging
Transcript: ENSMUST00000200396
AA Change: D119E
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000143517 Gene: ENSMUSG00000028149 AA Change: D119E
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 |
0.3251 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (55/55) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
A |
G |
6: 128,530,243 (GRCm39) |
V938A |
probably damaging |
Het |
Acot7 |
A |
G |
4: 152,337,611 (GRCm39) |
T254A |
possibly damaging |
Het |
Ankle2 |
C |
T |
5: 110,402,318 (GRCm39) |
R943C |
probably damaging |
Het |
Arrdc2 |
T |
C |
8: 71,292,026 (GRCm39) |
K7R |
probably benign |
Het |
Arsi |
T |
A |
18: 61,049,442 (GRCm39) |
H108Q |
probably damaging |
Het |
Asap3 |
T |
C |
4: 135,968,514 (GRCm39) |
Y689H |
probably benign |
Het |
Bnip3 |
G |
A |
7: 138,493,666 (GRCm39) |
T181I |
probably damaging |
Het |
C87436 |
T |
C |
6: 86,424,337 (GRCm39) |
S290P |
probably benign |
Het |
Ccdc168 |
A |
G |
1: 44,100,711 (GRCm39) |
V129A |
possibly damaging |
Het |
Ccdc6 |
A |
G |
10: 69,933,331 (GRCm39) |
I68V |
probably benign |
Het |
Ccr3 |
T |
C |
9: 123,829,012 (GRCm39) |
F116L |
probably benign |
Het |
Cdh9 |
G |
T |
15: 16,831,152 (GRCm39) |
V330F |
probably damaging |
Het |
Cdkn1a |
T |
C |
17: 29,318,350 (GRCm39) |
C155R |
possibly damaging |
Het |
Ctr9 |
C |
T |
7: 110,633,664 (GRCm39) |
A165V |
probably damaging |
Het |
Cyp2b19 |
G |
A |
7: 26,470,675 (GRCm39) |
G439R |
probably damaging |
Het |
Fam161b |
A |
T |
12: 84,395,430 (GRCm39) |
D504E |
probably damaging |
Het |
Fdps |
G |
T |
3: 89,002,783 (GRCm39) |
P122T |
probably benign |
Het |
Fmn2 |
T |
C |
1: 174,547,437 (GRCm39) |
Y1454H |
probably damaging |
Het |
Gipc2 |
T |
C |
3: 151,799,866 (GRCm39) |
E288G |
probably damaging |
Het |
Gm21411 |
A |
C |
4: 146,982,167 (GRCm39) |
|
probably null |
Het |
Hnrnpc |
C |
T |
14: 52,321,719 (GRCm39) |
D32N |
possibly damaging |
Het |
Hspa12b |
T |
A |
2: 130,982,859 (GRCm39) |
I239N |
probably damaging |
Het |
Hspb8 |
T |
C |
5: 116,553,485 (GRCm39) |
N138D |
probably damaging |
Het |
Igkv4-69 |
T |
C |
6: 69,260,921 (GRCm39) |
I69V |
possibly damaging |
Het |
Itih1 |
A |
C |
14: 30,664,482 (GRCm39) |
D81E |
probably benign |
Het |
Kdm3b |
T |
C |
18: 34,941,781 (GRCm39) |
L624S |
probably damaging |
Het |
Klk6 |
A |
G |
7: 43,478,086 (GRCm39) |
M153V |
probably benign |
Het |
Lgals9 |
A |
T |
11: 78,854,302 (GRCm39) |
Y327* |
probably null |
Het |
Lims1 |
T |
A |
10: 58,246,263 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
T |
A |
2: 40,750,667 (GRCm39) |
I3080F |
|
Het |
Mars2 |
C |
T |
1: 55,277,456 (GRCm39) |
T353I |
possibly damaging |
Het |
Matn4 |
T |
C |
2: 164,238,960 (GRCm39) |
N307S |
probably damaging |
Het |
Mettl17 |
C |
T |
14: 52,128,947 (GRCm39) |
H406Y |
probably damaging |
Het |
Mtor |
T |
A |
4: 148,630,856 (GRCm39) |
M2271K |
probably benign |
Het |
Mtrex |
T |
C |
13: 113,035,336 (GRCm39) |
E539G |
probably benign |
Het |
Myt1 |
T |
C |
2: 181,437,532 (GRCm39) |
L81P |
probably damaging |
Het |
Or56a3b |
T |
A |
7: 104,770,757 (GRCm39) |
L31H |
probably damaging |
Het |
Or5b118 |
T |
C |
19: 13,449,263 (GRCm39) |
F310L |
probably benign |
Het |
Or6k4 |
A |
T |
1: 173,964,490 (GRCm39) |
Y60F |
probably damaging |
Het |
Or8b38 |
C |
T |
9: 37,972,961 (GRCm39) |
T115I |
probably damaging |
Het |
Pbrm1 |
A |
G |
14: 30,806,109 (GRCm39) |
K1030R |
probably damaging |
Het |
Rgs9 |
A |
G |
11: 109,164,150 (GRCm39) |
I151T |
probably benign |
Het |
Slc26a7 |
A |
C |
4: 14,621,338 (GRCm39) |
M16R |
possibly damaging |
Het |
Slx4ip |
T |
G |
2: 136,885,945 (GRCm39) |
Y88* |
probably null |
Het |
Sppl2c |
T |
A |
11: 104,078,192 (GRCm39) |
W331R |
probably benign |
Het |
Srcap |
T |
C |
7: 127,141,784 (GRCm39) |
S1855P |
probably benign |
Het |
Svs5 |
A |
G |
2: 164,079,053 (GRCm39) |
F285L |
probably benign |
Het |
Tjp1 |
G |
T |
7: 64,992,450 (GRCm39) |
A76E |
probably benign |
Het |
Trip13 |
G |
C |
13: 74,061,373 (GRCm39) |
A430G |
probably benign |
Het |
Trpm6 |
A |
G |
19: 18,770,226 (GRCm39) |
E337G |
probably damaging |
Het |
Tut7 |
A |
T |
13: 59,937,004 (GRCm39) |
N1214K |
probably benign |
Het |
Vmn1r37 |
T |
A |
6: 66,708,377 (GRCm39) |
M1K |
probably null |
Het |
Wdr72 |
T |
G |
9: 74,086,783 (GRCm39) |
|
probably benign |
Het |
Zfp583 |
T |
C |
7: 6,319,771 (GRCm39) |
K414E |
probably damaging |
Het |
Zfp940 |
A |
C |
7: 29,544,948 (GRCm39) |
S320A |
probably benign |
Het |
Zfp979 |
A |
C |
4: 147,697,763 (GRCm39) |
C315W |
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 |
|
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 |
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'- CTAACTACTTCCTTAGGAGCATGG -3'
(R):5'- TGCGCTTTCAAATAGTAAACCC -3'
Sequencing Primer
(F):5'- CATGGTGTGGCCCAAGTTTCC -3'
(R):5'- AACCCTTTAAACTTAGCACTATGTG -3'
|
Posted On |
2020-01-23 |