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) question?
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

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 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

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 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

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 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

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
Meta Mutation Damage Score 0.3251 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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