Incidental Mutation 'IGL01358:Rims3'
ID 75597
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rims3
Ensembl Gene ENSMUSG00000032890
Gene Name regulating synaptic membrane exocytosis 3
Synonyms Nim3, A730060M23Rik, Rim3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01358
Quality Score
Status
Chromosome 4
Chromosomal Location 120712013-120753776 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 120748700 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 307 (S307F)
Ref Sequence ENSEMBL: ENSMUSP00000101890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071093] [ENSMUST00000106283] [ENSMUST00000171363]
AlphaFold Q80U57
Predicted Effect probably benign
Transcript: ENSMUST00000071093
AA Change: S307F

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000068178
Gene: ENSMUSG00000032890
AA Change: S307F

DomainStartEndE-ValueType
low complexity region 33 42 N/A INTRINSIC
C2 169 272 6.64e-12 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000106283
AA Change: S307F

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101890
Gene: ENSMUSG00000032890
AA Change: S307F

DomainStartEndE-ValueType
low complexity region 33 42 N/A INTRINSIC
C2 169 272 6.64e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171363
AA Change: S307F

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000130295
Gene: ENSMUSG00000032890
AA Change: S307F

DomainStartEndE-ValueType
low complexity region 33 42 N/A INTRINSIC
C2 169 272 6.64e-12 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice exhibit normal hearing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 A G 7: 27,335,579 (GRCm39) Y316C probably damaging Het
Atp6v0a4 T G 6: 38,051,145 (GRCm39) D411A probably damaging Het
Calr3 A T 8: 73,181,057 (GRCm39) Y178* probably null Het
Ces1e A G 8: 93,940,778 (GRCm39) L298P probably damaging Het
Clk3 T C 9: 57,661,875 (GRCm39) T391A probably damaging Het
Cr2 A G 1: 194,842,128 (GRCm39) I275T probably damaging Het
Cul9 G T 17: 46,849,240 (GRCm39) P635H probably damaging Het
Dhx33 G A 11: 70,884,687 (GRCm39) Q40* probably null Het
Dscam A T 16: 96,411,543 (GRCm39) S1778T possibly damaging Het
Dsg2 T A 18: 20,734,850 (GRCm39) Y943N probably damaging Het
Eml1 A T 12: 108,480,727 (GRCm39) T398S probably benign Het
Epha3 G A 16: 63,416,109 (GRCm39) probably benign Het
Hacl1 A T 14: 31,348,374 (GRCm39) M200K probably benign Het
Ighmbp2 T A 19: 3,318,817 (GRCm39) S420C probably damaging Het
Kcnt1 T A 2: 25,806,017 (GRCm39) I1200N probably damaging Het
Kctd21 T A 7: 96,996,581 (GRCm39) L18Q probably damaging Het
Krt78 A C 15: 101,854,698 (GRCm39) S1038A probably benign Het
Lrp2 C A 2: 69,382,814 (GRCm39) probably benign Het
Lrrc41 T A 4: 115,932,784 (GRCm39) V60D probably benign Het
Mafk T C 5: 139,786,248 (GRCm39) S149P probably damaging Het
Mest T A 6: 30,746,330 (GRCm39) probably benign Het
Nlrp1b G A 11: 71,072,682 (GRCm39) T387I possibly damaging Het
Notch3 C T 17: 32,363,721 (GRCm39) D1140N probably damaging Het
Nxph2 A G 2: 23,290,086 (GRCm39) N146S probably damaging Het
Olfm1 T C 2: 28,119,507 (GRCm39) C381R probably damaging Het
Or56b1b T A 7: 108,164,409 (GRCm39) R198W probably benign Het
Or5p81 C T 7: 108,266,869 (GRCm39) P82L possibly damaging Het
Parp11 C T 6: 127,448,526 (GRCm39) Q48* probably null Het
Pgc T C 17: 48,041,591 (GRCm39) V175A probably benign Het
Pira12 A G 7: 3,898,686 (GRCm39) V254A probably benign Het
Plxna1 G T 6: 89,299,732 (GRCm39) T1679N probably damaging Het
Pnpt1 G T 11: 29,088,425 (GRCm39) L229F possibly damaging Het
Ppp1r12b A T 1: 134,819,897 (GRCm39) L282Q probably damaging Het
Rag2 C A 2: 101,460,365 (GRCm39) A225D possibly damaging Het
Ralgps1 T C 2: 33,033,061 (GRCm39) D456G possibly damaging Het
Rasgrf2 T A 13: 92,130,749 (GRCm39) T170S probably benign Het
Rel C T 11: 23,711,155 (GRCm39) S4N probably benign Het
Rnf123 A G 9: 107,946,381 (GRCm39) L290P probably damaging Het
Rtn4r G T 16: 17,969,260 (GRCm39) M229I possibly damaging Het
Rusc2 G A 4: 43,426,116 (GRCm39) R1407Q probably damaging Het
Sec23ip A T 7: 128,354,521 (GRCm39) Q259L possibly damaging Het
Slc24a4 G A 12: 102,189,894 (GRCm39) C204Y probably benign Het
Slc27a3 T C 3: 90,293,859 (GRCm39) T542A probably damaging Het
Smarcal1 A T 1: 72,655,724 (GRCm39) I668F possibly damaging Het
Snap91 C A 9: 86,688,613 (GRCm39) V311F probably damaging Het
Sp8 T A 12: 118,812,705 (GRCm39) S187T probably damaging Het
Tcerg1 T C 18: 42,657,342 (GRCm39) S275P unknown Het
Vwce T A 19: 10,641,773 (GRCm39) V833D possibly damaging Het
Zbtb8b A G 4: 129,327,052 (GRCm39) S38P probably damaging Het
Zfp598 T C 17: 24,900,398 (GRCm39) probably benign Het
Zkscan4 G A 13: 21,668,475 (GRCm39) E309K possibly damaging Het
Other mutations in Rims3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:Rims3 APN 4 120,748,583 (GRCm39) missense probably benign 0.30
R0145:Rims3 UTSW 4 120,744,223 (GRCm39) missense probably damaging 1.00
R1347:Rims3 UTSW 4 120,740,322 (GRCm39) missense probably damaging 1.00
R1347:Rims3 UTSW 4 120,740,322 (GRCm39) missense probably damaging 1.00
R1998:Rims3 UTSW 4 120,748,555 (GRCm39) missense probably benign
R3708:Rims3 UTSW 4 120,740,352 (GRCm39) missense probably damaging 0.97
R4703:Rims3 UTSW 4 120,740,494 (GRCm39) intron probably benign
R5274:Rims3 UTSW 4 120,748,571 (GRCm39) missense probably damaging 1.00
R6331:Rims3 UTSW 4 120,740,350 (GRCm39) missense probably damaging 0.96
R8299:Rims3 UTSW 4 120,746,569 (GRCm39) missense probably damaging 1.00
R9388:Rims3 UTSW 4 120,748,552 (GRCm39) missense possibly damaging 0.48
R9634:Rims3 UTSW 4 120,748,517 (GRCm39) missense possibly damaging 0.76
Z1176:Rims3 UTSW 4 120,746,269 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07