Incidental Mutation 'R9526:Rap1gds1'
ID 719209
Institutional Source Beutler Lab
Gene Symbol Rap1gds1
Ensembl Gene ENSMUSG00000028149
Gene Name RAP1, GTP-GDP dissociation stimulator 1
Synonyms GDS1
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.657) question?
Stock # R9526 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 138631663-138780962 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 138756317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 13 (I13L)
Ref Sequence ENSEMBL: ENSMUSP00000096173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029796] [ENSMUST00000098574] [ENSMUST00000196106] [ENSMUST00000196280] [ENSMUST00000200396]
AlphaFold E9Q912
Predicted Effect probably benign
Transcript: ENSMUST00000029796
AA Change: I13L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029796
Gene: ENSMUSG00000028149
AA Change: I13L

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
AA Change: I13L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000096173
Gene: ENSMUSG00000028149
AA Change: I13L

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
AA Change: I13L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect probably benign
Transcript: ENSMUST00000196280
AA Change: I13L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000143181
Gene: ENSMUSG00000028149
AA Change: I13L

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 probably benign
Transcript: ENSMUST00000200396
AA Change: I13L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143517
Gene: ENSMUSG00000028149
AA Change: I13L

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A G 12: 80,230,393 (GRCm39) L287S probably damaging Het
Adgrf1 A T 17: 43,616,237 (GRCm39) Q292L possibly damaging Het
Arhgap32 A G 9: 32,172,026 (GRCm39) D1602G probably benign Het
Atrnl1 C T 19: 57,617,551 (GRCm39) P109S probably damaging Het
Camsap1 G A 2: 25,843,962 (GRCm39) H230Y probably benign Het
Capns1 C T 7: 29,891,612 (GRCm39) C144Y probably damaging Het
Ccdc17 G A 4: 116,455,994 (GRCm39) V341I possibly damaging Het
Cd36 T C 5: 18,002,033 (GRCm39) T323A probably damaging Het
Cdc14a CGCTGCTGCTGCTGCTGCTG CGCTGCTGCTGCTGCTG 3: 116,087,509 (GRCm39) probably benign Het
Ckap2l G A 2: 129,111,161 (GRCm39) Q679* probably null Het
Clec4g T A 8: 3,768,565 (GRCm39) N93I probably benign Het
Cntnap2 T A 6: 45,992,165 (GRCm39) L364Q probably damaging Het
Cul9 A G 17: 46,841,026 (GRCm39) M748T probably benign Het
Dnah11 A T 12: 118,150,711 (GRCm39) I349N probably damaging Het
Dnajc14 T A 10: 128,642,260 (GRCm39) Y61N probably benign Het
Dock6 A T 9: 21,713,802 (GRCm39) Y1909* probably null Het
Dock8 T A 19: 25,165,739 (GRCm39) D1874E probably benign Het
Dpm1 A G 2: 168,072,210 (GRCm39) S22P probably benign Het
Dysf T C 6: 84,128,885 (GRCm39) L1385P probably damaging Het
Egf T C 3: 129,491,421 (GRCm39) T859A probably benign Het
Eif2b1 A T 5: 124,711,867 (GRCm39) S162T probably benign Het
Emilin1 T C 5: 31,075,484 (GRCm39) L575P probably damaging Het
Erp27 T A 6: 136,886,550 (GRCm39) Q161L probably benign Het
Fbxw10 C A 11: 62,765,945 (GRCm39) D738E possibly damaging Het
Fcgbp T G 7: 27,790,937 (GRCm39) C733G probably damaging Het
Fgb T A 3: 82,957,122 (GRCm39) probably benign Het
Gata3os A T 2: 9,887,634 (GRCm39) T12S unknown Het
Got1l1 G T 8: 27,688,503 (GRCm39) Q283K probably benign Het
Grk2 G A 19: 4,340,871 (GRCm39) R226C probably damaging Het
Hoxa10 T C 6: 52,211,334 (GRCm39) D194G probably benign Het
Ipcef1 G A 10: 6,840,620 (GRCm39) T363I probably damaging Het
Itga10 C A 3: 96,564,273 (GRCm39) T922N probably damaging Het
Itgad T C 7: 127,777,552 (GRCm39) I144T probably benign Het
Kat6b C A 14: 21,567,564 (GRCm39) Q208K possibly damaging Het
Kidins220 T G 12: 25,088,383 (GRCm39) L1042R probably damaging Het
Kmt2c T C 5: 25,486,355 (GRCm39) S4733G probably damaging Het
Lrig3 A G 10: 125,850,736 (GRCm39) I1101V probably benign Het
Lrp1 T A 10: 127,431,229 (GRCm39) N311I probably damaging Het
Man2a1 A T 17: 64,958,310 (GRCm39) K275I probably benign Het
Map3k10 T A 7: 27,364,434 (GRCm39) N318I probably damaging Het
Map3k8 G A 18: 4,333,869 (GRCm39) R408W probably damaging Het
Mast1 A G 8: 85,647,805 (GRCm39) M523T probably damaging Het
Mast4 T C 13: 102,873,593 (GRCm39) H1925R probably benign Het
Med12l C T 3: 58,984,207 (GRCm39) S461L probably damaging Het
Mfap1a T C 2: 121,333,237 (GRCm39) K65E probably damaging Het
Mical1 T C 10: 41,358,602 (GRCm39) S507P probably benign Het
Miga2 T C 2: 30,268,400 (GRCm39) V433A unknown Het
Mpdz T C 4: 81,274,653 (GRCm39) T848A probably benign Het
Mycn A G 12: 12,989,778 (GRCm39) V206A probably benign Het
Ndst1 G A 18: 60,838,220 (GRCm39) Q342* probably null Het
Nectin1 A G 9: 43,702,369 (GRCm39) M39V probably benign Het
Nectin4 A T 1: 171,210,209 (GRCm39) R234* probably null Het
Ngb C G 12: 87,145,317 (GRCm39) V113L possibly damaging Het
Nphp3 T A 9: 103,913,337 (GRCm39) Y990N probably damaging Het
Nrdc T C 4: 108,915,833 (GRCm39) probably null Het
Or10a2 A T 7: 106,673,739 (GRCm39) K235* probably null Het
Or1e23 T A 11: 73,407,351 (GRCm39) I225F probably damaging Het
Or5p60 T A 7: 107,723,801 (GRCm39) Y223F probably benign Het
Osbpl6 A G 2: 76,415,603 (GRCm39) Y655C probably damaging Het
Pcdhgb4 A G 18: 37,855,882 (GRCm39) Q759R probably benign Het
Pcsk4 T C 10: 80,161,800 (GRCm39) D164G probably damaging Het
Pde4d T A 13: 110,071,915 (GRCm39) I303N probably damaging Het
Pdf T A 8: 107,774,972 (GRCm39) M87L probably benign Het
Pigb A G 9: 72,941,840 (GRCm39) S140P probably damaging Het
Plch1 T A 3: 63,758,549 (GRCm39) probably benign Het
Plxna1 G T 6: 89,319,633 (GRCm39) D557E probably benign Het
Polr2e C T 10: 79,872,792 (GRCm39) V149M probably benign Het
Polr3a A T 14: 24,503,313 (GRCm39) C1174S probably benign Het
Prb1c T A 6: 132,338,891 (GRCm39) N109I unknown Het
Psmd2 T A 16: 20,474,369 (GRCm39) S308R probably benign Het
Ptger1 T A 8: 84,396,002 (GRCm39) V353E probably damaging Het
Ptprc A G 1: 137,996,111 (GRCm39) M940T probably benign Het
Pus7l T C 15: 94,425,781 (GRCm39) N540S probably damaging Het
Rasl10b A T 11: 83,303,590 (GRCm39) N49I probably damaging Het
Rftn1 A T 17: 50,301,237 (GRCm39) N537K probably benign Het
Rnase4 A G 14: 51,342,645 (GRCm39) Y123C probably damaging Het
Rnf181 A C 6: 72,338,302 (GRCm39) N26K probably benign Het
Rnf31 G A 14: 55,836,269 (GRCm39) probably null Het
Rpusd3 C G 6: 113,393,200 (GRCm39) C304S unknown Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,229,139 (GRCm39) probably benign Het
Ryr3 C A 2: 112,664,270 (GRCm39) V1694L probably benign Het
Sanbr T C 11: 23,559,098 (GRCm39) Y372C probably damaging Het
Sephs2 T C 7: 126,872,346 (GRCm39) D249G probably damaging Het
Serpina10 A G 12: 103,583,217 (GRCm39) I409T probably damaging Het
Serpina5 C T 12: 104,069,403 (GRCm39) A205V probably damaging Het
Sfr1 T A 19: 47,723,453 (GRCm39) V319E probably damaging Het
Skil T A 3: 31,171,639 (GRCm39) Y542N probably benign Het
Slc15a5 T C 6: 138,049,954 (GRCm39) T154A probably benign Het
Slc27a2 T A 2: 126,429,846 (GRCm39) L618Q probably damaging Het
Slc6a6 A T 6: 91,726,808 (GRCm39) Y483F probably benign Het
Sprr1b T C 3: 92,344,443 (GRCm39) I144M probably benign Het
Stat5a T A 11: 100,771,161 (GRCm39) V580E Het
Tnk1 C T 11: 69,746,011 (GRCm39) D305N probably damaging Het
Tox2 A G 2: 163,164,930 (GRCm39) *523W probably null Het
Trav12-2 A G 14: 53,854,085 (GRCm39) N20D probably benign Het
Trav16 T A 14: 53,981,046 (GRCm39) N78K probably damaging Het
Trf C T 9: 103,104,130 (GRCm39) A78T probably damaging Het
Ttn A G 2: 76,711,543 (GRCm39) probably benign Het
Vmn2r67 T A 7: 84,785,834 (GRCm39) M724L probably benign Het
Vmn2r94 A T 17: 18,477,261 (GRCm39) F383L probably benign Het
Vwa2 T C 19: 56,895,208 (GRCm39) S461P probably benign Het
Zfp991 G A 4: 147,264,327 (GRCm39) G568E probably damaging Het
Zfpl1 A G 19: 6,134,440 (GRCm39) F15S 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
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
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'- GGAGAGAACACTGCAAACAATTTC -3'
(R):5'- CAGTAACTCAGGGCCACTTG -3'

Sequencing Primer
(F):5'- GATCCAAAAGCATACAAGCTATGTG -3'
(R):5'- TCAGGGCCACTTGGAGTGTC -3'
Posted On 2022-07-18