Incidental Mutation 'R6547:Rap1gds1'
ID |
521252 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rap1gds1
|
Ensembl Gene |
ENSMUSG00000028149 |
Gene Name |
RAP1, GTP-GDP dissociation stimulator 1 |
Synonyms |
GDS1 |
MMRRC Submission |
044672-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.657)
|
Stock # |
R6547 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
138631663-138780962 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 138661099 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 426
(R426L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029796
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029796]
[ENSMUST00000098574]
[ENSMUST00000196106]
[ENSMUST00000196280]
[ENSMUST00000200396]
|
AlphaFold |
E9Q912 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029796
AA Change: R426L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000029796 Gene: ENSMUSG00000028149 AA Change: R426L
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: R475L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000096173 Gene: ENSMUSG00000028149 AA Change: R475L
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: R474L
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000143181 Gene: ENSMUSG00000028149 AA Change: R474L
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: R426L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000143517 Gene: ENSMUSG00000028149 AA Change: R426L
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
Validation Efficiency |
98% (53/54) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
A |
T |
2: 68,490,251 (GRCm39) |
|
probably benign |
Het |
Abca13 |
T |
A |
11: 9,224,757 (GRCm39) |
V490E |
probably benign |
Het |
Abca2 |
G |
T |
2: 25,323,350 (GRCm39) |
G106V |
possibly damaging |
Het |
Ablim3 |
T |
C |
18: 61,957,000 (GRCm39) |
T276A |
probably benign |
Het |
Anxa7 |
A |
G |
14: 20,519,461 (GRCm39) |
V119A |
probably benign |
Het |
Arl9 |
A |
G |
5: 77,158,257 (GRCm39) |
|
probably null |
Het |
Atm |
T |
C |
9: 53,351,457 (GRCm39) |
Y2964C |
probably damaging |
Het |
Bbs9 |
T |
C |
9: 22,425,365 (GRCm39) |
Y140H |
probably benign |
Het |
Calcr |
A |
T |
6: 3,717,177 (GRCm39) |
D94E |
probably damaging |
Het |
Celsr3 |
T |
A |
9: 108,706,327 (GRCm39) |
Y937N |
probably damaging |
Het |
Cemip2 |
A |
T |
19: 21,822,195 (GRCm39) |
T1197S |
probably benign |
Het |
Clca3a1 |
C |
T |
3: 144,442,708 (GRCm39) |
A779T |
probably damaging |
Het |
Clec9a |
T |
A |
6: 129,393,339 (GRCm39) |
V94D |
probably benign |
Het |
Colec12 |
G |
T |
18: 9,840,351 (GRCm39) |
L57F |
probably damaging |
Het |
Fa2h |
T |
C |
8: 112,074,652 (GRCm39) |
Y317C |
probably damaging |
Het |
Flnc |
A |
G |
6: 29,448,607 (GRCm39) |
T1282A |
probably damaging |
Het |
Gm10801 |
AAGT |
AAGTAGT |
2: 98,494,148 (GRCm39) |
|
probably null |
Het |
Hcn2 |
G |
T |
10: 79,552,986 (GRCm39) |
V162L |
probably benign |
Het |
Hycc1 |
T |
C |
5: 24,170,098 (GRCm39) |
N417S |
probably benign |
Het |
Kbtbd11 |
T |
A |
8: 15,077,641 (GRCm39) |
V80E |
possibly damaging |
Het |
Lama4 |
A |
G |
10: 38,949,652 (GRCm39) |
D915G |
probably damaging |
Het |
Limch1 |
A |
T |
5: 67,186,117 (GRCm39) |
E806V |
probably damaging |
Het |
Mppe1 |
T |
C |
18: 67,362,059 (GRCm39) |
I169V |
probably benign |
Het |
Msc |
A |
C |
1: 14,825,969 (GRCm39) |
S2A |
possibly damaging |
Het |
Nploc4 |
A |
G |
11: 120,319,348 (GRCm39) |
|
probably null |
Het |
Nr3c2 |
A |
T |
8: 77,635,438 (GRCm39) |
I180F |
possibly damaging |
Het |
Nrap |
G |
T |
19: 56,339,998 (GRCm39) |
H840N |
probably benign |
Het |
Or8a1 |
T |
A |
9: 37,641,791 (GRCm39) |
M163L |
probably benign |
Het |
Pate13 |
T |
A |
9: 35,819,781 (GRCm39) |
M15K |
probably null |
Het |
Pdlim1 |
G |
A |
19: 40,211,564 (GRCm39) |
T243I |
probably damaging |
Het |
Pfkl |
T |
A |
10: 77,831,188 (GRCm39) |
M318L |
probably benign |
Het |
Ric1 |
A |
G |
19: 29,572,226 (GRCm39) |
N674D |
probably damaging |
Het |
Rp1 |
G |
A |
1: 4,240,528 (GRCm39) |
T875I |
unknown |
Het |
Rtn1 |
G |
T |
12: 72,355,535 (GRCm39) |
S137Y |
possibly damaging |
Het |
Scn2a |
A |
G |
2: 65,546,241 (GRCm39) |
I935V |
probably benign |
Het |
Serpina1a |
C |
T |
12: 103,822,180 (GRCm39) |
V251M |
probably damaging |
Het |
Slc19a3 |
A |
G |
1: 83,000,621 (GRCm39) |
V132A |
probably damaging |
Het |
Slc26a6 |
T |
A |
9: 108,737,981 (GRCm39) |
|
probably null |
Het |
Slc2a5 |
T |
A |
4: 150,220,076 (GRCm39) |
V164D |
possibly damaging |
Het |
Slc4a1 |
T |
A |
11: 102,247,561 (GRCm39) |
T441S |
probably damaging |
Het |
Stk33 |
T |
C |
7: 108,920,042 (GRCm39) |
I366V |
possibly damaging |
Het |
Syt14 |
G |
T |
1: 192,584,177 (GRCm39) |
H696N |
possibly damaging |
Het |
Tcaim |
T |
A |
9: 122,643,531 (GRCm39) |
V77D |
probably benign |
Het |
Tefm |
T |
G |
11: 80,031,210 (GRCm39) |
|
probably null |
Het |
Tekt3 |
T |
A |
11: 62,961,304 (GRCm39) |
S158T |
possibly damaging |
Het |
Tspan11 |
T |
A |
6: 127,926,766 (GRCm39) |
M238K |
possibly damaging |
Het |
Unc5c |
A |
T |
3: 141,495,780 (GRCm39) |
T476S |
probably benign |
Het |
Usp9y |
A |
T |
Y: 1,444,612 (GRCm39) |
L109Q |
probably damaging |
Homo |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vps13c |
C |
A |
9: 67,880,647 (GRCm39) |
Q3495K |
probably damaging |
Het |
Zbtb10 |
G |
A |
3: 9,316,763 (GRCm39) |
A192T |
probably benign |
Het |
Zfp316 |
A |
T |
5: 143,239,952 (GRCm39) |
V689D |
probably damaging |
Het |
Zswim1 |
A |
G |
2: 164,666,716 (GRCm39) |
|
probably benign |
Het |
Zswim5 |
T |
C |
4: 116,844,100 (GRCm39) |
L1046P |
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 |
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'- TTGCCAGCTCCTACCATCAAAG -3'
(R):5'- TGCCTGTCAGTGATTTGCTC -3'
Sequencing Primer
(F):5'- CCATCAAAGCCTTACCTTTAAGTATG -3'
(R):5'- CAGTGATTTGCTCTGTTTTTGC -3'
|
Posted On |
2018-06-06 |