Incidental Mutation 'R3708:Rims3'
ID 259435
Institutional Source Beutler Lab
Gene Symbol Rims3
Ensembl Gene ENSMUSG00000032890
Gene Name regulating synaptic membrane exocytosis 3
Synonyms Nim3, A730060M23Rik, Rim3
MMRRC Submission 040701-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3708 (G1)
Quality Score 175
Status Validated
Chromosome 4
Chromosomal Location 120712013-120753776 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120740352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 100 (T100A)
Ref Sequence ENSEMBL: ENSMUSP00000130295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071093] [ENSMUST00000106283] [ENSMUST00000171363]
AlphaFold Q80U57
Predicted Effect probably damaging
Transcript: ENSMUST00000071093
AA Change: T100A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000068178
Gene: ENSMUSG00000032890
AA Change: T100A

DomainStartEndE-ValueType
low complexity region 33 42 N/A INTRINSIC
C2 169 272 6.64e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106283
AA Change: T100A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101890
Gene: ENSMUSG00000032890
AA Change: T100A

DomainStartEndE-ValueType
low complexity region 33 42 N/A INTRINSIC
C2 169 272 6.64e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132895
Predicted Effect probably damaging
Transcript: ENSMUST00000171363
AA Change: T100A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130295
Gene: ENSMUSG00000032890
AA Change: T100A

DomainStartEndE-ValueType
low complexity region 33 42 N/A INTRINSIC
C2 169 272 6.64e-12 SMART
Meta Mutation Damage Score 0.0782 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 92.1%
Validation Efficiency 98% (51/52)
MGI Phenotype PHENOTYPE: Mice exhibit normal hearing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Abcc5 G T 16: 20,190,930 (GRCm39) Q807K probably benign Het
Amfr T C 8: 94,709,948 (GRCm39) H419R probably benign Het
Atp8b2 A T 3: 89,852,459 (GRCm39) F866I probably damaging Het
Atxn7l3 G A 11: 102,182,705 (GRCm39) probably benign Het
Bcs1l A G 1: 74,629,264 (GRCm39) probably benign Het
Card11 G A 5: 140,872,890 (GRCm39) R608C probably damaging Het
Celf2 C A 2: 6,629,489 (GRCm39) K137N probably damaging Het
Cmya5 A T 13: 93,231,874 (GRCm39) Y1071* probably null Het
Cyp2d10 A G 15: 82,287,217 (GRCm39) F469L possibly damaging Het
Cyp3a41a A G 5: 145,654,733 (GRCm39) probably null Het
Dnah8 A T 17: 30,958,631 (GRCm39) I2158L probably damaging Het
Dtnb T A 12: 3,639,156 (GRCm39) probably null Het
Dync1h1 T C 12: 110,609,563 (GRCm39) F2782L probably damaging Het
Ednrb A G 14: 104,054,516 (GRCm39) Y439H probably damaging Het
Ferd3l T C 12: 33,978,748 (GRCm39) V87A probably benign Het
Gphn T A 12: 78,579,467 (GRCm39) S320T probably benign Het
Gpr39 C T 1: 125,800,349 (GRCm39) H367Y probably damaging Het
Hspa4l A T 3: 40,736,125 (GRCm39) N582I possibly damaging Het
Ighv1-85 A T 12: 115,963,836 (GRCm39) W55R probably damaging Het
Lelp1 A C 3: 92,042,714 (GRCm39) C112G unknown Het
Lrba A G 3: 86,192,331 (GRCm39) M82V possibly damaging Het
Macrod2 C A 2: 141,652,549 (GRCm39) T204K probably damaging Het
Map2 A T 1: 66,455,714 (GRCm39) probably benign Het
Ncor1 T C 11: 62,235,513 (GRCm39) K647R probably damaging Het
Nr4a3 A T 4: 48,056,699 (GRCm39) Y417F probably damaging Het
Nup50l G A 6: 96,142,933 (GRCm39) T37I possibly damaging Het
Obox7 C A 7: 14,398,122 (GRCm39) S54* probably null Het
Or2n1c A G 17: 38,519,174 (GRCm39) I13V probably benign Het
Or52r1c T G 7: 102,735,501 (GRCm39) Y254D probably damaging Het
Or8b101 T C 9: 38,020,740 (GRCm39) S253P probably damaging Het
Or9g20 T A 2: 85,630,342 (GRCm39) I91L probably benign Het
Pappa2 A T 1: 158,662,488 (GRCm39) Y1162* probably null Het
Pcdhb19 T A 18: 37,630,442 (GRCm39) I79K probably benign Het
Pi4k2a C T 19: 42,079,370 (GRCm39) Q144* probably null Het
Pigc T A 1: 161,798,663 (GRCm39) M215K probably benign Het
Pnma8a T A 7: 16,694,150 (GRCm39) S2T probably damaging Het
Ppfia4 T C 1: 134,237,398 (GRCm39) E967G probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Serpinb9 A T 13: 33,192,002 (GRCm39) N61I possibly damaging Het
Sis A G 3: 72,850,856 (GRCm39) M614T probably benign Het
Slc6a17 C T 3: 107,400,401 (GRCm39) V243I probably benign Het
Smad9 A T 3: 54,693,602 (GRCm39) Y177F probably benign Het
Vmn2r69 T C 7: 85,061,029 (GRCm39) D185G probably damaging Het
Vps36 G T 8: 22,682,899 (GRCm39) V5L probably benign Het
Vwa8 T A 14: 79,300,136 (GRCm39) probably benign Het
Other mutations in Rims3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:Rims3 APN 4 120,748,583 (GRCm39) missense probably benign 0.30
IGL01358:Rims3 APN 4 120,748,700 (GRCm39) missense possibly damaging 0.91
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
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
Predicted Primers PCR Primer
(F):5'- TATGTCCCTGGGCAGCTTTG -3'
(R):5'- CAGGAGCCCCAATTTCCTTC -3'

Sequencing Primer
(F):5'- ACCTGCCTCTGTTCAGAGAATC -3'
(R):5'- CAGTTGGCATGTGCACAC -3'
Posted On 2015-01-23