Incidental Mutation 'R8071:Rims1'
ID 628884
Institutional Source Beutler Lab
Gene Symbol Rims1
Ensembl Gene ENSMUSG00000041670
Gene Name regulating synaptic membrane exocytosis 1
Synonyms RIM1alpha, C030033M19Rik, RIM1, RIM1a
MMRRC Submission 067506-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.671) question?
Stock # R8071 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 22356475-22845203 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 22358760 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 182 (W182*)
Ref Sequence ENSEMBL: ENSMUSP00000131808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081544] [ENSMUST00000097809] [ENSMUST00000097810] [ENSMUST00000097811] [ENSMUST00000115273] [ENSMUST00000164877]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000081544
AA Change: W1223*
SMART Domains Protein: ENSMUSP00000080259
Gene: ENSMUSG00000041670
AA Change: W1223*

DomainStartEndE-ValueType
low complexity region 5 18 N/A INTRINSIC
coiled coil region 30 52 N/A INTRINSIC
Pfam:FYVE_2 102 205 2.6e-9 PFAM
low complexity region 283 293 N/A INTRINSIC
low complexity region 329 345 N/A INTRINSIC
low complexity region 381 394 N/A INTRINSIC
PDZ 449 528 1.44e-15 SMART
low complexity region 535 551 N/A INTRINSIC
C2 593 703 7.55e-1 SMART
low complexity region 710 721 N/A INTRINSIC
low complexity region 899 934 N/A INTRINSIC
low complexity region 1011 1025 N/A INTRINSIC
C2 1120 1223 7.45e-15 SMART
low complexity region 1245 1253 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000097809
AA Change: W1298*
SMART Domains Protein: ENSMUSP00000095418
Gene: ENSMUSG00000041670
AA Change: W1298*

DomainStartEndE-ValueType
low complexity region 5 18 N/A INTRINSIC
coiled coil region 30 52 N/A INTRINSIC
Pfam:FYVE_2 102 205 1e-9 PFAM
low complexity region 283 293 N/A INTRINSIC
low complexity region 329 345 N/A INTRINSIC
low complexity region 381 394 N/A INTRINSIC
PDZ 449 528 1.44e-15 SMART
low complexity region 535 551 N/A INTRINSIC
C2 593 703 7.55e-1 SMART
low complexity region 710 721 N/A INTRINSIC
low complexity region 862 874 N/A INTRINSIC
low complexity region 974 1009 N/A INTRINSIC
low complexity region 1086 1100 N/A INTRINSIC
C2 1195 1298 7.45e-15 SMART
low complexity region 1320 1328 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000097810
AA Change: W1359*
SMART Domains Protein: ENSMUSP00000095419
Gene: ENSMUSG00000041670
AA Change: W1359*

DomainStartEndE-ValueType
low complexity region 5 18 N/A INTRINSIC
coiled coil region 30 52 N/A INTRINSIC
PDB:2CJS|C 131 193 2e-32 PDB
low complexity region 283 293 N/A INTRINSIC
low complexity region 329 345 N/A INTRINSIC
low complexity region 381 394 N/A INTRINSIC
PDZ 449 528 1.44e-15 SMART
low complexity region 535 551 N/A INTRINSIC
C2 593 703 7.55e-1 SMART
low complexity region 710 721 N/A INTRINSIC
low complexity region 862 874 N/A INTRINSIC
low complexity region 916 929 N/A INTRINSIC
low complexity region 1035 1070 N/A INTRINSIC
low complexity region 1147 1161 N/A INTRINSIC
C2 1256 1359 7.45e-15 SMART
low complexity region 1381 1389 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000097811
AA Change: W1387*
SMART Domains Protein: ENSMUSP00000095420
Gene: ENSMUSG00000041670
AA Change: W1387*

DomainStartEndE-ValueType
low complexity region 5 18 N/A INTRINSIC
coiled coil region 30 52 N/A INTRINSIC
Pfam:FYVE_2 102 205 1.6e-9 PFAM
low complexity region 283 293 N/A INTRINSIC
low complexity region 329 345 N/A INTRINSIC
low complexity region 381 394 N/A INTRINSIC
PDZ 449 528 1.44e-15 SMART
low complexity region 535 551 N/A INTRINSIC
C2 593 703 7.55e-1 SMART
low complexity region 710 721 N/A INTRINSIC
low complexity region 867 881 N/A INTRINSIC
low complexity region 944 957 N/A INTRINSIC
low complexity region 1063 1098 N/A INTRINSIC
low complexity region 1175 1189 N/A INTRINSIC
C2 1284 1387 7.45e-15 SMART
low complexity region 1409 1417 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000115273
AA Change: W1274*
SMART Domains Protein: ENSMUSP00000110928
Gene: ENSMUSG00000041670
AA Change: W1274*

DomainStartEndE-ValueType
low complexity region 5 18 N/A INTRINSIC
coiled coil region 30 52 N/A INTRINSIC
Pfam:FYVE_2 102 205 2.8e-9 PFAM
low complexity region 283 293 N/A INTRINSIC
low complexity region 329 345 N/A INTRINSIC
low complexity region 381 394 N/A INTRINSIC
PDZ 449 528 1.44e-15 SMART
low complexity region 535 551 N/A INTRINSIC
C2 593 703 7.55e-1 SMART
low complexity region 710 721 N/A INTRINSIC
low complexity region 950 985 N/A INTRINSIC
low complexity region 1062 1076 N/A INTRINSIC
C2 1171 1274 7.45e-15 SMART
low complexity region 1296 1304 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000164877
AA Change: W182*
SMART Domains Protein: ENSMUSP00000131808
Gene: ENSMUSG00000041670
AA Change: W182*

DomainStartEndE-ValueType
C2 79 182 7.45e-15 SMART
low complexity region 204 212 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000185942
AA Change: W691*
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene display defects in maternal care and abnormalities in synaptic transmission in the central nervous system. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acads T C 5: 115,251,226 (GRCm39) E86G probably benign Het
Agmo A G 12: 37,448,728 (GRCm39) T217A probably damaging Het
Arhgap39 A G 15: 76,621,702 (GRCm39) S300P probably benign Het
Casp12 T C 9: 5,346,647 (GRCm39) L58P probably damaging Het
Ccar2 T C 14: 70,389,902 (GRCm39) T24A probably benign Het
Ccndbp1 C A 2: 120,845,046 (GRCm39) T321K unknown Het
Cd200r3 G A 16: 44,774,503 (GRCm39) C172Y probably damaging Het
Chd2 T A 7: 73,187,132 (GRCm39) H9L probably benign Het
Cracdl C A 1: 37,663,010 (GRCm39) E963* probably null Het
Cramp1 T A 17: 25,201,674 (GRCm39) S603C probably damaging Het
Crtac1 C T 19: 42,286,239 (GRCm39) R448H probably damaging Het
Csmd2 A T 4: 128,287,331 (GRCm39) Y1022F Het
Ctns T C 11: 73,075,760 (GRCm39) Y363C probably damaging Het
D630044L22Rik A G 17: 26,179,118 (GRCm39) T15A possibly damaging Het
Dhx38 A C 8: 110,285,333 (GRCm39) I444M probably benign Het
Dnah14 A T 1: 181,443,459 (GRCm39) I450F possibly damaging Het
Dpf1 T C 7: 29,013,566 (GRCm39) F245L probably benign Het
Efr3b A G 12: 4,032,898 (GRCm39) V269A probably benign Het
Eprs1 G T 1: 185,126,653 (GRCm39) V530L possibly damaging Het
Eps8l2 A G 7: 140,922,860 (GRCm39) N41S probably damaging Het
Erbb4 T C 1: 68,435,470 (GRCm39) I142M probably damaging Het
Fhip1a T C 3: 85,637,868 (GRCm39) M144V probably damaging Het
Flnc A T 6: 29,457,445 (GRCm39) D2381V probably damaging Het
Fndc1 T A 17: 7,991,362 (GRCm39) D778V unknown Het
Galnt3 A G 2: 65,921,555 (GRCm39) I492T probably benign Het
Gigyf2 T C 1: 87,374,155 (GRCm39) M1261T probably damaging Het
Haus8 A G 8: 71,708,695 (GRCm39) F126S probably benign Het
Hif3a A G 7: 16,782,686 (GRCm39) L293S probably damaging Het
Ino80c G A 18: 24,239,707 (GRCm39) T200I unknown Het
Jag1 T A 2: 136,943,717 (GRCm39) M160L probably benign Het
Kcnj12 C A 11: 60,960,825 (GRCm39) H374Q probably damaging Het
Lrrc27 A G 7: 138,816,902 (GRCm39) I433M probably benign Het
Lyzl4 C T 9: 121,407,160 (GRCm39) W123* probably null Het
Map2k4 A T 11: 65,597,827 (GRCm39) C264S Het
Mmrn1 C T 6: 60,921,508 (GRCm39) probably benign Het
Mug1 C T 6: 121,850,631 (GRCm39) T709I probably benign Het
Myo9a T A 9: 59,781,931 (GRCm39) W1706R probably benign Het
Nlrp5 A G 7: 23,117,869 (GRCm39) E531G probably damaging Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Pcdhb11 A C 18: 37,555,422 (GRCm39) I251L probably benign Het
Per3 A G 4: 151,113,270 (GRCm39) S353P probably damaging Het
Piezo1 T C 8: 123,213,750 (GRCm39) E1738G probably null Het
Prr14l T C 5: 32,988,508 (GRCm39) D329G probably benign Het
Ptpn23 G T 9: 110,217,267 (GRCm39) P863Q probably damaging Het
Ptpn23 G T 9: 110,217,268 (GRCm39) P863T possibly damaging Het
Ptprq T C 10: 107,479,896 (GRCm39) K1125E possibly damaging Het
Rapgef2 T G 3: 79,000,343 (GRCm39) T351P probably damaging Het
Rbl2 A G 8: 91,840,617 (GRCm39) Y923C probably damaging Het
Rimbp3 T C 16: 17,028,727 (GRCm39) V717A probably benign Het
Rnmt A G 18: 68,440,723 (GRCm39) K129E probably benign Het
Ruvbl1 T C 6: 88,450,108 (GRCm39) F93S probably damaging Het
Scamp5 T C 9: 57,350,969 (GRCm39) Y231C probably damaging Het
Sfxn5 T A 6: 85,244,921 (GRCm39) probably null Het
Skic2 A T 17: 35,068,975 (GRCm39) V8D probably benign Het
Slc12a1 T C 2: 125,028,234 (GRCm39) F510S probably damaging Het
Sowahb T C 5: 93,190,922 (GRCm39) Y599C probably damaging Het
Speer4e1 T C 5: 14,987,111 (GRCm39) N98S probably damaging Het
Stat3 T C 11: 100,784,807 (GRCm39) N553S probably benign Het
Sult6b2 A T 6: 142,735,868 (GRCm39) L242Q probably damaging Het
Tacc3 C T 5: 33,821,169 (GRCm39) R98W possibly damaging Het
Tuba4a C T 1: 75,193,595 (GRCm39) R112H Het
Ubr3 T A 2: 69,819,220 (GRCm39) S1337T probably damaging Het
Vmn2r69 A T 7: 85,055,713 (GRCm39) C808* probably null Het
Wnt16 G A 6: 22,288,997 (GRCm39) A105T probably benign Het
Zfp692 C T 11: 58,198,560 (GRCm39) S50L probably damaging Het
Other mutations in Rims1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Rims1 APN 1 22,507,323 (GRCm39) missense probably damaging 1.00
IGL00535:Rims1 APN 1 22,503,172 (GRCm39) missense probably benign 0.02
IGL01021:Rims1 APN 1 22,525,701 (GRCm39) missense probably damaging 1.00
IGL01106:Rims1 APN 1 22,449,671 (GRCm39) missense probably damaging 1.00
IGL01128:Rims1 APN 1 22,573,256 (GRCm39) missense probably damaging 0.97
IGL01548:Rims1 APN 1 22,577,683 (GRCm39) missense probably damaging 1.00
IGL01688:Rims1 APN 1 22,467,764 (GRCm39) missense probably benign 0.22
IGL02089:Rims1 APN 1 22,669,556 (GRCm39) missense possibly damaging 0.68
IGL02245:Rims1 APN 1 22,416,712 (GRCm39) missense probably damaging 0.98
IGL02355:Rims1 APN 1 22,522,288 (GRCm39) missense probably damaging 1.00
IGL02362:Rims1 APN 1 22,522,288 (GRCm39) missense probably damaging 1.00
IGL02682:Rims1 APN 1 22,358,708 (GRCm39) missense probably damaging 1.00
IGL03006:Rims1 APN 1 22,367,178 (GRCm39) missense probably damaging 0.99
IGL03054:Rims1 UTSW 1 22,360,333 (GRCm39) missense probably damaging 1.00
PIT4504001:Rims1 UTSW 1 22,467,684 (GRCm39) missense
R0031:Rims1 UTSW 1 22,367,103 (GRCm39) missense probably damaging 1.00
R0118:Rims1 UTSW 1 22,416,631 (GRCm39) missense probably damaging 1.00
R0390:Rims1 UTSW 1 22,635,607 (GRCm39) missense possibly damaging 0.92
R0483:Rims1 UTSW 1 22,507,263 (GRCm39) splice site probably benign
R0744:Rims1 UTSW 1 22,497,709 (GRCm39) splice site probably null
R0836:Rims1 UTSW 1 22,497,709 (GRCm39) splice site probably null
R1218:Rims1 UTSW 1 22,522,256 (GRCm39) missense probably damaging 1.00
R1228:Rims1 UTSW 1 22,511,837 (GRCm39) missense probably null 1.00
R1374:Rims1 UTSW 1 22,367,172 (GRCm39) missense probably damaging 1.00
R1474:Rims1 UTSW 1 22,577,362 (GRCm39) splice site probably benign
R1652:Rims1 UTSW 1 22,363,090 (GRCm39) missense probably damaging 1.00
R1712:Rims1 UTSW 1 22,367,172 (GRCm39) missense probably damaging 1.00
R1730:Rims1 UTSW 1 22,416,753 (GRCm39) critical splice acceptor site probably null
R1783:Rims1 UTSW 1 22,416,753 (GRCm39) critical splice acceptor site probably null
R1861:Rims1 UTSW 1 22,635,639 (GRCm39) missense probably damaging 1.00
R1899:Rims1 UTSW 1 22,498,725 (GRCm39) missense probably damaging 1.00
R1937:Rims1 UTSW 1 22,358,754 (GRCm39) missense probably damaging 1.00
R2010:Rims1 UTSW 1 22,367,220 (GRCm39) missense probably damaging 1.00
R2049:Rims1 UTSW 1 22,635,516 (GRCm39) missense probably damaging 1.00
R2124:Rims1 UTSW 1 22,474,732 (GRCm39) nonsense probably null
R2860:Rims1 UTSW 1 22,503,227 (GRCm39) missense probably benign 0.01
R2861:Rims1 UTSW 1 22,503,227 (GRCm39) missense probably benign 0.01
R2914:Rims1 UTSW 1 22,844,711 (GRCm39) missense probably damaging 1.00
R3740:Rims1 UTSW 1 22,443,667 (GRCm39) missense probably damaging 1.00
R3741:Rims1 UTSW 1 22,443,667 (GRCm39) missense probably damaging 1.00
R3773:Rims1 UTSW 1 22,492,034 (GRCm39) missense probably damaging 1.00
R3874:Rims1 UTSW 1 22,498,740 (GRCm39) missense probably damaging 1.00
R3901:Rims1 UTSW 1 22,572,578 (GRCm39) missense probably benign 0.00
R3964:Rims1 UTSW 1 22,497,709 (GRCm39) splice site probably null
R4037:Rims1 UTSW 1 22,514,793 (GRCm39) missense probably damaging 0.96
R4039:Rims1 UTSW 1 22,514,793 (GRCm39) missense probably damaging 0.96
R4056:Rims1 UTSW 1 22,363,163 (GRCm39) splice site probably benign
R4062:Rims1 UTSW 1 22,572,664 (GRCm39) missense probably benign 0.00
R4552:Rims1 UTSW 1 22,443,718 (GRCm39) missense probably damaging 0.99
R4658:Rims1 UTSW 1 22,497,793 (GRCm39) missense probably damaging 0.98
R4688:Rims1 UTSW 1 22,518,528 (GRCm39) nonsense probably null
R4696:Rims1 UTSW 1 22,358,836 (GRCm39) missense probably damaging 1.00
R4720:Rims1 UTSW 1 22,497,731 (GRCm39) missense probably damaging 1.00
R4764:Rims1 UTSW 1 22,518,543 (GRCm39) missense probably damaging 1.00
R4780:Rims1 UTSW 1 22,361,329 (GRCm39) missense probably damaging 1.00
R4931:Rims1 UTSW 1 22,573,028 (GRCm39) missense probably benign 0.26
R5137:Rims1 UTSW 1 22,358,844 (GRCm39) nonsense probably null
R5153:Rims1 UTSW 1 22,522,328 (GRCm39) nonsense probably null
R5305:Rims1 UTSW 1 22,635,623 (GRCm39) missense probably damaging 0.99
R5354:Rims1 UTSW 1 22,577,592 (GRCm39) missense probably damaging 1.00
R5386:Rims1 UTSW 1 22,482,469 (GRCm39) missense probably damaging 0.99
R5485:Rims1 UTSW 1 22,522,289 (GRCm39) missense possibly damaging 0.93
R5643:Rims1 UTSW 1 22,577,590 (GRCm39) missense probably damaging 1.00
R5929:Rims1 UTSW 1 22,507,322 (GRCm39) missense probably damaging 1.00
R5988:Rims1 UTSW 1 22,635,544 (GRCm39) missense probably damaging 1.00
R6160:Rims1 UTSW 1 22,503,235 (GRCm39) missense probably damaging 0.98
R6579:Rims1 UTSW 1 22,496,166 (GRCm39) missense probably damaging 1.00
R6790:Rims1 UTSW 1 22,507,278 (GRCm39) missense probably damaging 1.00
R7048:Rims1 UTSW 1 22,511,901 (GRCm39) missense probably damaging 1.00
R7100:Rims1 UTSW 1 22,416,697 (GRCm39) missense probably benign 0.27
R7155:Rims1 UTSW 1 22,503,174 (GRCm39) missense probably damaging 0.99
R7171:Rims1 UTSW 1 22,498,740 (GRCm39) missense
R7448:Rims1 UTSW 1 22,474,699 (GRCm39) missense
R7505:Rims1 UTSW 1 22,573,077 (GRCm39) missense possibly damaging 0.55
R7567:Rims1 UTSW 1 22,507,291 (GRCm39) missense probably damaging 0.99
R7639:Rims1 UTSW 1 22,844,750 (GRCm39) missense probably benign 0.02
R7955:Rims1 UTSW 1 22,507,322 (GRCm39) missense probably damaging 1.00
R8005:Rims1 UTSW 1 22,482,437 (GRCm39) missense
R8465:Rims1 UTSW 1 22,498,731 (GRCm39) missense possibly damaging 0.89
R8517:Rims1 UTSW 1 22,522,246 (GRCm39) missense probably damaging 1.00
R8703:Rims1 UTSW 1 22,496,137 (GRCm39) missense
R8726:Rims1 UTSW 1 22,633,181 (GRCm39) missense possibly damaging 0.88
R9090:Rims1 UTSW 1 22,498,773 (GRCm39) missense
R9179:Rims1 UTSW 1 22,482,490 (GRCm39) missense probably damaging 0.99
R9271:Rims1 UTSW 1 22,498,773 (GRCm39) missense
R9291:Rims1 UTSW 1 22,467,746 (GRCm39) missense
R9394:Rims1 UTSW 1 22,511,856 (GRCm39) missense probably damaging 1.00
R9578:Rims1 UTSW 1 22,523,823 (GRCm39) missense probably damaging 1.00
R9614:Rims1 UTSW 1 22,491,969 (GRCm39) nonsense probably null
R9726:Rims1 UTSW 1 22,669,493 (GRCm39) missense probably null 0.21
Z1088:Rims1 UTSW 1 22,358,810 (GRCm39) missense probably damaging 1.00
Z1176:Rims1 UTSW 1 22,523,752 (GRCm39) nonsense probably null
Z1177:Rims1 UTSW 1 22,511,858 (GRCm39) missense probably benign 0.44
Z1177:Rims1 UTSW 1 22,507,322 (GRCm39) missense probably damaging 1.00
Z1177:Rims1 UTSW 1 22,367,163 (GRCm39) missense possibly damaging 0.93
Z1177:Rims1 UTSW 1 22,511,885 (GRCm39) missense probably damaging 1.00
Z1186:Rims1 UTSW 1 22,449,706 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- CTACAGGCAAAACACAAGTTGATTG -3'
(R):5'- CATTTGCAGAATGTCCTCACG -3'

Sequencing Primer
(F):5'- AGTTGATTGTCTGTCTCCAACAATGC -3'
(R):5'- CAGAATGTCCTCACGTGTGG -3'
Posted On 2020-06-30