Incidental Mutation 'R1573:Rap1gds1'
ID 170942
Institutional Source Beutler Lab
Gene Symbol Rap1gds1
Ensembl Gene ENSMUSG00000028149
Gene Name RAP1, GTP-GDP dissociation stimulator 1
Synonyms GDS1
MMRRC Submission 039612-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.657) question?
Stock # R1573 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 138631663-138780962 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to A at 138671624 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 null
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 null
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 null
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 null
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.6%
  • 20x: 87.1%
Validation Efficiency 98% (90/92)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 T C 11: 46,004,445 (GRCm39) probably benign Het
Add1 C G 5: 34,758,740 (GRCm39) A18G possibly damaging Het
Alk T C 17: 72,910,113 (GRCm39) K198E possibly damaging Het
Angptl1 T A 1: 156,684,740 (GRCm39) L303Q possibly damaging Het
Aox1 A T 1: 58,348,186 (GRCm39) I635L probably benign Het
Atp5mk T A 19: 47,074,634 (GRCm39) Q9L possibly damaging Het
Atp8a2 G T 14: 60,097,655 (GRCm39) T791K probably benign Het
Auts2 T C 5: 131,469,325 (GRCm39) K664R probably damaging Het
Birc6 T A 17: 74,967,685 (GRCm39) probably benign Het
Cacna1i C A 15: 80,277,869 (GRCm39) probably null Het
Cacna2d1 T C 5: 16,575,625 (GRCm39) F1077L probably damaging Het
Camkk1 C T 11: 72,918,307 (GRCm39) R52C probably damaging Het
Camkmt T A 17: 85,403,958 (GRCm39) V60E probably damaging Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Cbr2 A T 11: 120,622,791 (GRCm39) L3Q possibly damaging Het
Ccar1 A T 10: 62,586,434 (GRCm39) D920E unknown Het
Cdc20b A G 13: 113,192,478 (GRCm39) N57S probably benign Het
Cep83 G A 10: 94,624,525 (GRCm39) E601K probably damaging Het
Cldn10 A T 14: 119,111,080 (GRCm39) I176L probably benign Het
Cpeb2 T C 5: 43,441,273 (GRCm39) probably benign Het
Crb1 A G 1: 139,265,344 (GRCm39) S25P probably damaging Het
Cyp3a59 A T 5: 146,039,684 (GRCm39) Y319F probably damaging Het
Dst C T 1: 34,240,312 (GRCm39) S1561F probably damaging Het
Dxo C T 17: 35,057,270 (GRCm39) R221C probably damaging Het
Dynlt4 A T 4: 116,985,191 (GRCm39) T5S probably benign Het
Epc2 A G 2: 49,439,984 (GRCm39) T801A possibly damaging Het
Fndc3a C A 14: 72,806,384 (GRCm39) C373F probably damaging Het
Frmpd1 T C 4: 45,283,932 (GRCm39) S918P probably benign Het
Fuca2 A G 10: 13,381,587 (GRCm39) T84A possibly damaging Het
Garin4 G A 1: 190,896,682 (GRCm39) probably benign Het
Gmeb1 A T 4: 131,979,051 (GRCm39) N21K probably benign Het
Htt T C 5: 35,021,718 (GRCm39) probably benign Het
Igsf1 T C X: 48,880,863 (GRCm39) R251G possibly damaging Het
Itih4 A T 14: 30,619,504 (GRCm39) H720L probably benign Het
Kank4 A T 4: 98,663,073 (GRCm39) L705* probably null Het
Krt34 A T 11: 99,931,854 (GRCm39) S122T probably benign Het
L1td1 A G 4: 98,625,517 (GRCm39) T571A probably benign Het
Lag3 T C 6: 124,886,210 (GRCm39) T248A possibly damaging Het
Lgi1 T A 19: 38,272,629 (GRCm39) H133Q probably benign Het
Map1a A T 2: 121,134,607 (GRCm39) T1808S probably benign Het
Mcm9 T C 10: 53,424,752 (GRCm39) T613A probably damaging Het
Meaf6 A G 4: 124,983,931 (GRCm39) I111V probably benign Het
Mki67 G A 7: 135,296,845 (GRCm39) P2730S possibly damaging Het
Mlc1 A C 15: 88,842,350 (GRCm39) C337G probably damaging Het
Mrc2 T A 11: 105,227,482 (GRCm39) Y572N probably damaging Het
Mterf3 T C 13: 67,070,967 (GRCm39) N172S possibly damaging Het
Or3a1c T A 11: 74,046,196 (GRCm39) M72K probably benign Het
Or4b1 A T 2: 89,979,068 (GRCm39) probably benign Het
Or4c115 T A 2: 88,928,064 (GRCm39) D69V probably damaging Het
Or5ak4 A T 2: 85,161,687 (GRCm39) L185H probably damaging Het
Or6c6c T C 10: 129,541,487 (GRCm39) S247P probably damaging Het
Padi4 T G 4: 140,484,881 (GRCm39) T327P possibly damaging Het
Pga5 T A 19: 10,651,201 (GRCm39) I151F probably benign Het
Pkdrej G T 15: 85,702,275 (GRCm39) D1220E probably benign Het
Prokr2 T A 2: 132,215,684 (GRCm39) Q259L probably damaging Het
Ptbp2 C A 3: 119,546,754 (GRCm39) D43Y probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ralgps2 C T 1: 156,660,500 (GRCm39) R237Q possibly damaging Het
Saa2 T A 7: 46,401,716 (GRCm39) M1K probably null Het
Samd9l T C 6: 3,375,426 (GRCm39) I612V probably damaging Het
Scn10a C T 9: 119,442,692 (GRCm39) V1518I probably benign Het
Serpina6 T C 12: 103,618,012 (GRCm39) D267G probably damaging Het
Sh2d4b A G 14: 40,564,329 (GRCm39) probably null Het
Sh3bp2 T C 5: 34,718,034 (GRCm39) V505A probably benign Het
Smad2 A G 18: 76,395,657 (GRCm39) E32G possibly damaging Het
Smn1 T G 13: 100,263,118 (GRCm39) D32E probably damaging Het
Spata31d1c T C 13: 65,182,883 (GRCm39) S142P possibly damaging Het
Stk39 A T 2: 68,221,293 (GRCm39) I210N probably damaging Het
Tcte2 A G 17: 13,937,899 (GRCm39) probably benign Het
Tctn3 C A 19: 40,597,361 (GRCm39) E230* probably null Het
Tenm2 A T 11: 35,937,896 (GRCm39) H1592Q probably damaging Het
Tescl A G 7: 24,032,668 (GRCm39) V219A probably damaging Het
Tgm6 C T 2: 129,993,660 (GRCm39) S633L probably benign Het
Tmcc1 C T 6: 116,110,924 (GRCm39) S123N probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ulk2 G A 11: 61,670,581 (GRCm39) R992C probably damaging Het
Vwa5b1 G A 4: 138,332,184 (GRCm39) H278Y probably damaging Het
Wwp2 C T 8: 108,275,121 (GRCm39) R373W probably damaging Het
Zfp24 A T 18: 24,150,399 (GRCm39) D170E possibly damaging Het
Zfp808 T C 13: 62,319,311 (GRCm39) I180T possibly damaging Het
Zfp820 T A 17: 22,037,737 (GRCm39) Q530H probably benign Het
Zfp975 A T 7: 42,311,507 (GRCm39) Y369N probably benign 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
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
Predicted Primers PCR Primer
(F):5'- AAGCCACAGGCTTTGTTAACTCTTACA -3'
(R):5'- CTGAGTTCCAGAAAATAGCACGTTTGC -3'

Sequencing Primer
(F):5'- TGGGCTATATACTCAAAGCTCC -3'
(R):5'- GCACGTTTGCTAATATAAACACATC -3'
Posted On 2014-04-13