Incidental Mutation 'R6160:Rims1'
ID 489785
Institutional Source Beutler Lab
Gene Symbol Rims1
Ensembl Gene ENSMUSG00000041670
Gene Name regulating synaptic membrane exocytosis 1
Synonyms RIM1alpha, C030033M19Rik, RIM1, RIM1a
MMRRC Submission 044307-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.675) question?
Stock # R6160 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 22356475-22845203 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22503235 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 650 (Y650C)
Ref Sequence ENSEMBL: ENSMUSP00000095420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081544] [ENSMUST00000097809] [ENSMUST00000097810] [ENSMUST00000097811] [ENSMUST00000115273]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000081544
AA Change: Y650C

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000080259
Gene: ENSMUSG00000041670
AA Change: Y650C

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 possibly damaging
Transcript: ENSMUST00000097809
AA Change: Y650C

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000095418
Gene: ENSMUSG00000041670
AA Change: Y650C

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 possibly damaging
Transcript: ENSMUST00000097810
AA Change: Y650C

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095419
Gene: ENSMUSG00000041670
AA Change: Y650C

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 damaging
Transcript: ENSMUST00000097811
AA Change: Y650C

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095420
Gene: ENSMUSG00000041670
AA Change: Y650C

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 benign
Transcript: ENSMUST00000115273
AA Change: Y650C

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000110928
Gene: ENSMUSG00000041670
AA Change: Y650C

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 benign
Transcript: ENSMUST00000185942
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 94% (62/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik T A 7: 40,642,950 (GRCm39) S297R possibly damaging Het
5530400C23Rik A G 6: 133,271,289 (GRCm39) E111G possibly damaging Het
8030423J24Rik T A 13: 71,032,029 (GRCm39) S34T unknown Het
Ace3 T A 11: 105,885,558 (GRCm39) W20R possibly damaging Het
Adgrf1 A G 17: 43,621,578 (GRCm39) E605G probably damaging Het
Arhgap44 G A 11: 65,053,375 (GRCm39) probably benign Het
Atm A C 9: 53,402,259 (GRCm39) H1404Q probably benign Het
AW209491 A G 13: 14,811,306 (GRCm39) E53G probably damaging Het
Bhmt1b G A 18: 87,775,245 (GRCm39) C256Y probably damaging Het
Cdt1 C T 8: 123,298,107 (GRCm39) T366I probably benign Het
Cerk A T 15: 86,026,974 (GRCm39) C179S probably benign Het
Cldn10 T C 14: 119,099,255 (GRCm39) V123A possibly damaging Het
Clip1 T C 5: 123,751,604 (GRCm39) K726E possibly damaging Het
Dcaf12 A T 4: 41,294,043 (GRCm39) Y365N probably damaging Het
Dennd6b A G 15: 89,073,024 (GRCm39) L171P probably damaging Het
Dip2c G A 13: 9,583,290 (GRCm39) V91I probably benign Het
Dlec1 A G 9: 118,972,387 (GRCm39) I1431V probably benign Het
Egln1 T C 8: 125,675,231 (GRCm39) D188G probably damaging Het
Enpp5 T A 17: 44,392,259 (GRCm39) N229K possibly damaging Het
Fmo1 T G 1: 162,663,867 (GRCm39) I221L probably benign Het
Fsip2 G A 2: 82,818,289 (GRCm39) W4674* probably null Het
Gm12185 G A 11: 48,799,255 (GRCm39) Q413* probably null Het
Gm7298 A T 6: 121,741,886 (GRCm39) H436L probably benign Het
Gucy2c G A 6: 136,717,684 (GRCm39) Q430* probably null Het
Hgd A G 16: 37,433,660 (GRCm39) H134R probably damaging Het
Hoxd8 A G 2: 74,536,343 (GRCm39) E151G probably damaging Het
Il15ra A G 2: 11,724,827 (GRCm39) D99G probably damaging Het
Ints4 T A 7: 97,158,790 (GRCm39) probably null Het
Itgb1 T A 8: 129,446,764 (GRCm39) F426L possibly damaging Het
Itpr1 A C 6: 108,495,716 (GRCm39) I2534L probably benign Het
Kcnq4 T A 4: 120,573,756 (GRCm39) H235L probably damaging Het
Kcnt1 T A 2: 25,782,395 (GRCm39) I178N probably damaging Het
Kidins220 A G 12: 25,047,310 (GRCm39) D252G probably damaging Het
Krt23 A G 11: 99,376,544 (GRCm39) I204T probably damaging Het
Lipo4 A G 19: 33,480,693 (GRCm39) L225P probably damaging Het
Lrp3 T C 7: 34,903,548 (GRCm39) D245G possibly damaging Het
Mmp16 A G 4: 18,051,857 (GRCm39) D282G probably damaging Het
Myo1c A T 11: 75,541,568 (GRCm39) H18L probably benign Het
Myo1f C A 17: 33,823,318 (GRCm39) P981Q probably benign Het
Nle1 A T 11: 82,798,983 (GRCm39) F33I probably benign Het
Nlrp4e T G 7: 23,020,731 (GRCm39) M406R probably damaging Het
Obscn A T 11: 58,942,611 (GRCm39) V4857E probably damaging Het
Palb2 A T 7: 121,727,643 (GRCm39) probably null Het
Phospho1 A T 11: 95,721,450 (GRCm39) E22V probably damaging Het
Pom121l2 C T 13: 22,167,838 (GRCm39) S703L possibly damaging Het
Prex2 T C 1: 11,064,075 (GRCm39) L20P probably damaging Het
Psmb7 T C 2: 38,533,393 (GRCm39) T45A probably damaging Het
R3hdm2 T C 10: 127,320,376 (GRCm39) I532T probably damaging Het
Rcn1 T C 2: 105,222,362 (GRCm39) D208G probably damaging Het
Recql5 A G 11: 115,823,613 (GRCm39) probably null Het
Resf1 G A 6: 149,233,005 (GRCm39) probably null Het
Rfc4 A T 16: 22,933,433 (GRCm39) I242N probably damaging Het
Shc2 C T 10: 79,462,853 (GRCm39) probably null Het
Slc14a2 A T 18: 78,202,190 (GRCm39) probably null Het
Slc6a6 A T 6: 91,716,995 (GRCm39) probably null Het
Synj2 C A 17: 6,058,336 (GRCm39) H275N possibly damaging Het
T A T 17: 8,660,618 (GRCm39) T410S probably benign Het
Tars3 A G 7: 65,332,527 (GRCm39) I543V probably benign Het
Tbc1d8 T A 1: 39,411,484 (GRCm39) K1117N probably damaging Het
Tm7sf3 A T 6: 146,507,787 (GRCm39) L425* probably null Het
Trav14-3 A G 14: 54,000,978 (GRCm39) Y63C probably damaging Het
Tyro3 A C 2: 119,633,751 (GRCm39) D133A probably damaging Het
Vmn1r119 T G 7: 20,745,740 (GRCm39) H214P possibly damaging Het
Vmn2r120 G A 17: 57,816,418 (GRCm39) P646S probably benign Het
Zbtb7c A T 18: 76,278,904 (GRCm39) Y454F probably benign Het
Zmym2 T C 14: 57,187,766 (GRCm39) L1144P 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
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
R8071:Rims1 UTSW 1 22,358,760 (GRCm39) nonsense probably null
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'- GAACCATGCCTTTCACCACG -3'
(R):5'- TGAGCTTATCCTCTTCCATACAGG -3'

Sequencing Primer
(F):5'- TTTCACCACGCACCTGGAG -3'
(R):5'- CAGGATGAATTGTAGGTACTTCAC -3'
Posted On 2017-10-10