Incidental Mutation 'R2171:Rims4'
ID237461
Institutional Source Beutler Lab
Gene Symbol Rims4
Ensembl Gene ENSMUSG00000035226
Gene Nameregulating synaptic membrane exocytosis 4
SynonymsRim4
MMRRC Submission 040173-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.140) question?
Stock #R2171 (G1)
Quality Score203
Status Not validated
Chromosome2
Chromosomal Location163859751-163918683 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 163864126 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000045637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044734] [ENSMUST00000109396]
Predicted Effect probably null
Transcript: ENSMUST00000044734
SMART Domains Protein: ENSMUSP00000045637
Gene: ENSMUSG00000035226

DomainStartEndE-ValueType
C2 129 232 1.42e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109396
SMART Domains Protein: ENSMUSP00000105023
Gene: ENSMUSG00000035238

DomainStartEndE-ValueType
Pfam:Ion_trans_2 62 134 5.2e-21 PFAM
Pfam:Ion_trans_2 165 248 1.6e-17 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induec allele exhibit reduced body weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abt1 A G 13: 23,422,217 L189P probably damaging Het
Adgrl3 C A 5: 81,512,515 S377* probably null Het
Adgrv1 A G 13: 81,270,918 V5986A probably damaging Het
Arv1 T G 8: 124,728,355 C102W probably damaging Het
Asb18 T C 1: 89,968,697 H207R probably benign Het
Bach2 T C 4: 32,501,662 V13A probably damaging Het
Bccip T C 7: 133,719,114 S206P probably benign Het
Cdhr4 T C 9: 107,992,918 S41P probably benign Het
Chd7 A G 4: 8,752,424 Y307C probably damaging Het
Clec4f A T 6: 83,652,864 S237R possibly damaging Het
Cntnap5a A G 1: 116,188,402 D538G possibly damaging Het
Col9a2 T A 4: 121,045,001 C173* probably null Het
Ctr9 T A 7: 111,046,910 M703K possibly damaging Het
Cyp2a12 A G 7: 27,029,632 Y83C probably damaging Het
Eef1akmt3 A C 10: 127,032,974 D210E probably benign Het
Erbin A G 13: 103,834,958 F717L probably benign Het
Gtf3a A G 5: 146,955,462 N341S probably benign Het
Hltf T C 3: 20,059,081 V6A probably damaging Het
Itga6 T A 2: 71,820,014 Y135N probably damaging Het
Krt73 T C 15: 101,800,910 Q154R possibly damaging Het
Lce1a1 C T 3: 92,646,741 C142Y unknown Het
Lcorl A T 5: 45,747,151 I112N probably damaging Het
Ltbp1 C T 17: 75,291,317 H916Y probably damaging Het
Lypla2 T C 4: 135,970,604 probably null Het
Man1c1 G C 4: 134,703,438 P11R probably damaging Het
Mmp1a T A 9: 7,475,356 D375E probably damaging Het
Nlrp14 T G 7: 107,182,502 L302R probably damaging Het
Npy2r T G 3: 82,540,401 T243P possibly damaging Het
Olfr633 T C 7: 103,946,785 V73A probably damaging Het
Olfr749 A T 14: 50,736,419 S248T probably benign Het
Paqr9 A T 9: 95,560,878 H307L probably damaging Het
Phc3 T C 3: 30,950,929 T172A probably damaging Het
Pigs A G 11: 78,328,812 T39A probably damaging Het
Pik3c2g C T 6: 139,855,286 Q386* probably null Het
Pira2 T C 7: 3,844,418 S91G probably benign Het
Plxna2 T A 1: 194,800,617 N1539K probably damaging Het
Poc5 C T 13: 96,410,749 H507Y probably damaging Het
Pou2f1 A T 1: 165,880,356 probably benign Het
Pthlh T G 6: 147,257,196 K89Q probably damaging Het
Rnf138 A G 18: 21,026,086 N188D probably damaging Het
Rreb1 A G 13: 37,930,846 D727G probably benign Het
Sc5d T G 9: 42,255,386 K286Q probably benign Het
Slc10a5 C T 3: 10,335,282 G106D possibly damaging Het
Smg6 A T 11: 75,038,646 Q967L probably damaging Het
Spty2d1 C T 7: 46,994,613 R636H probably damaging Het
Srms A T 2: 181,208,780 Y195* probably null Het
Susd4 A G 1: 182,892,194 D458G probably benign Het
Tecta T C 9: 42,358,924 R1363G probably damaging Het
Thbs1 G A 2: 118,122,579 G890D probably damaging Het
Tpp2 T C 1: 43,957,446 V317A probably benign Het
Ttpa T C 4: 20,021,357 V175A probably damaging Het
Vps13b G T 15: 35,887,197 D3251Y probably benign Het
Vps54 A G 11: 21,298,810 D441G probably benign Het
Zfp738 A T 13: 67,670,977 Y298* probably null Het
Zfp804a G A 2: 82,257,183 C452Y possibly damaging Het
Zxdc A G 6: 90,382,479 K698E possibly damaging Het
Other mutations in Rims4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01627:Rims4 APN 2 163864102 missense probably damaging 1.00
IGL01980:Rims4 APN 2 163865782 splice site probably benign
demure UTSW 2 163864120 missense probably damaging 0.99
diminutive UTSW 2 163864865 critical splice donor site probably null
R0115:Rims4 UTSW 2 163864120 missense probably damaging 0.99
R0152:Rims4 UTSW 2 163863929 missense possibly damaging 0.65
R0153:Rims4 UTSW 2 163863929 missense possibly damaging 0.65
R0173:Rims4 UTSW 2 163863929 missense possibly damaging 0.65
R0238:Rims4 UTSW 2 163864025 missense probably benign 0.03
R0238:Rims4 UTSW 2 163864025 missense probably benign 0.03
R0481:Rims4 UTSW 2 163864120 missense probably damaging 0.99
R0702:Rims4 UTSW 2 163863929 missense possibly damaging 0.65
R0735:Rims4 UTSW 2 163863929 missense possibly damaging 0.65
R0973:Rims4 UTSW 2 163863929 missense possibly damaging 0.65
R0973:Rims4 UTSW 2 163863929 missense possibly damaging 0.65
R0974:Rims4 UTSW 2 163863929 missense possibly damaging 0.65
R1013:Rims4 UTSW 2 163863929 missense possibly damaging 0.65
R1014:Rims4 UTSW 2 163863929 missense possibly damaging 0.65
R1017:Rims4 UTSW 2 163863929 missense possibly damaging 0.65
R1104:Rims4 UTSW 2 163863929 missense possibly damaging 0.65
R1209:Rims4 UTSW 2 163863929 missense possibly damaging 0.65
R1401:Rims4 UTSW 2 163863929 missense possibly damaging 0.65
R1554:Rims4 UTSW 2 163879122 missense probably damaging 1.00
R1618:Rims4 UTSW 2 163863929 missense possibly damaging 0.65
R2104:Rims4 UTSW 2 163864865 critical splice donor site probably null
R3611:Rims4 UTSW 2 163879206 missense possibly damaging 0.50
R3735:Rims4 UTSW 2 163863985 missense possibly damaging 0.88
R3836:Rims4 UTSW 2 163918653 missense possibly damaging 0.86
R4685:Rims4 UTSW 2 163864994 nonsense probably null
R4849:Rims4 UTSW 2 163865543 missense probably benign 0.11
R4873:Rims4 UTSW 2 163865523 missense probably null 0.00
R4875:Rims4 UTSW 2 163865523 missense probably null 0.00
R5337:Rims4 UTSW 2 163865843 missense probably benign 0.00
R5415:Rims4 UTSW 2 163918676 missense probably benign 0.26
R5646:Rims4 UTSW 2 163864017 nonsense probably null
R6487:Rims4 UTSW 2 163864897 missense possibly damaging 0.93
R7213:Rims4 UTSW 2 163864061 missense probably benign 0.00
Predicted Primers
Posted On2014-10-02