Incidental Mutation 'IGL02033:Rap1gds1'
ID 184438
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rap1gds1
Ensembl Gene ENSMUSG00000028149
Gene Name RAP1, GTP-GDP dissociation stimulator 1
Synonyms GDS1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.657) question?
Stock # IGL02033
Quality Score
Status
Chromosome 3
Chromosomal Location 138631663-138780962 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 138661232 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143517 (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

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000098574
SMART Domains Protein: ENSMUSP00000096173
Gene: ENSMUSG00000028149

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000196280
SMART Domains Protein: ENSMUSP00000143181
Gene: ENSMUSG00000028149

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,407,995 (GRCm39) F107L possibly damaging Het
Adam30 G T 3: 98,068,787 (GRCm39) V79F probably benign Het
Akap8l T C 17: 32,557,246 (GRCm39) R122G probably damaging Het
Apc T A 18: 34,443,772 (GRCm39) S570R probably damaging Het
Btnl10 A G 11: 58,810,141 (GRCm39) E94G probably damaging Het
Col25a1 A T 3: 130,182,597 (GRCm39) probably benign Het
Cubn A C 2: 13,344,657 (GRCm39) I2208S probably damaging Het
Cyp17a1 A T 19: 46,661,046 (GRCm39) Y79* probably null Het
Dach1 T A 14: 98,138,865 (GRCm39) H474L possibly damaging Het
Dnai4 G T 4: 102,923,490 (GRCm39) N123K possibly damaging Het
Dscaml1 A T 9: 45,595,080 (GRCm39) I728F probably damaging Het
Erp29 G T 5: 121,590,305 (GRCm39) S33R probably benign Het
Fat3 A C 9: 15,826,648 (GRCm39) S4435A possibly damaging Het
Fbxw13 T C 9: 109,010,484 (GRCm39) I385V probably damaging Het
Hspg2 T C 4: 137,279,565 (GRCm39) M3160T probably benign Het
Lrrc28 C T 7: 67,209,605 (GRCm39) probably null Het
Myh15 T C 16: 48,965,707 (GRCm39) V1204A probably benign Het
Or5b104 T C 19: 13,072,221 (GRCm39) S91G possibly damaging Het
Pcare T A 17: 72,058,076 (GRCm39) I534F probably damaging Het
Pde5a G A 3: 122,596,710 (GRCm39) E434K possibly damaging Het
Pgr T A 9: 8,965,111 (GRCm39) V753E probably damaging Het
Pik3c3 T A 18: 30,445,703 (GRCm39) S563R possibly damaging Het
Ppt2 A G 17: 34,844,728 (GRCm39) probably benign Het
Prg4 T A 1: 150,331,619 (GRCm39) probably benign Het
Pygo1 G T 9: 72,852,683 (GRCm39) S290I possibly damaging Het
Ralgapa1 G T 12: 55,689,262 (GRCm39) H1946N possibly damaging Het
Sema4g G A 19: 44,985,854 (GRCm39) R256H probably damaging Het
Slc22a12 T G 19: 6,587,844 (GRCm39) D370A probably benign Het
Spata16 G A 3: 26,967,483 (GRCm39) probably null Het
Trim44 A G 2: 102,230,521 (GRCm39) M170T possibly damaging Het
Trpv6 A T 6: 41,604,551 (GRCm39) probably benign Het
Vwa8 T G 14: 79,221,649 (GRCm39) L535R possibly damaging Het
Other mutations in Rap1gds1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2014-05-07