Incidental Mutation 'IGL00504:Rin1'
ID13828
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rin1
Ensembl Gene ENSMUSG00000024883
Gene NameRas and Rab interactor 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00504
Quality Score
Status
Chromosome19
Chromosomal Location5050481-5057071 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 5052410 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 316 (S316P)
Ref Sequence ENSEMBL: ENSMUSP00000153189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025818] [ENSMUST00000116567] [ENSMUST00000224178] [ENSMUST00000224288] [ENSMUST00000224363] [ENSMUST00000225427] [ENSMUST00000225799]
Predicted Effect probably benign
Transcript: ENSMUST00000025818
AA Change: S327P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000025818
Gene: ENSMUSG00000024883
AA Change: S327P

DomainStartEndE-ValueType
SH2 66 153 2.16e-5 SMART
low complexity region 241 264 N/A INTRINSIC
low complexity region 286 300 N/A INTRINSIC
low complexity region 307 341 N/A INTRINSIC
low complexity region 405 422 N/A INTRINSIC
low complexity region 432 454 N/A INTRINSIC
VPS9 478 596 2.29e-64 SMART
RA 613 694 1.14e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116567
SMART Domains Protein: ENSMUSP00000112266
Gene: ENSMUSG00000080268

DomainStartEndE-ValueType
low complexity region 29 59 N/A INTRINSIC
Pfam:Sds3 60 209 5.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224032
Predicted Effect probably benign
Transcript: ENSMUST00000224178
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224254
Predicted Effect probably benign
Transcript: ENSMUST00000224288
Predicted Effect probably benign
Transcript: ENSMUST00000224363
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225203
Predicted Effect probably benign
Transcript: ENSMUST00000225427
AA Change: S316P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect probably benign
Transcript: ENSMUST00000225799
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene display an enhanced conditioned response in cued conditioning protocols and avoidance learning tests. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atpaf2 T C 11: 60,405,803 D168G probably damaging Het
Bcorl1 T G X: 48,406,042 V1730G probably damaging Het
Cela3b A T 4: 137,423,281 V202E probably damaging Het
Col3a1 A G 1: 45,347,135 D145G probably damaging Het
Cpsf6 A T 10: 117,366,129 probably benign Het
Dock5 A G 14: 67,786,889 probably benign Het
Folh1 T G 7: 86,734,143 R465S probably damaging Het
Garem1 T A 18: 21,148,657 Q214L probably damaging Het
Ldb2 T A 5: 44,541,684 probably null Het
Lmln A G 16: 33,083,065 N283S probably benign Het
Micalcl A G 7: 112,382,145 N508S possibly damaging Het
Obsl1 C A 1: 75,490,874 G1419C probably benign Het
Pafah1b3 T A 7: 25,296,189 T115S probably benign Het
Pcdhb5 C A 18: 37,322,109 A514E probably damaging Het
Prl8a8 G T 13: 27,509,610 T144K probably damaging Het
Rasgrp1 T A 2: 117,305,791 K105* probably null Het
Serpinb3b A T 1: 107,157,681 F110Y probably benign Het
Sh3bgrl2 C T 9: 83,577,554 P55L probably benign Het
Slc10a2 T A 8: 5,091,668 S239C probably damaging Het
Slc10a2 C A 8: 5,091,667 S239I probably benign Het
Slc6a15 T C 10: 103,389,141 V30A probably benign Het
Sncaip T G 18: 52,884,963 probably null Het
Tcerg1l T C 7: 138,209,804 R554G probably damaging Het
Tfap2b A G 1: 19,214,026 S35G possibly damaging Het
Tor1a A G 2: 30,967,190 I116T probably damaging Het
Tprgl A G 4: 154,158,433 S188P probably damaging Het
Vcan A T 13: 89,691,275 V2050E possibly damaging Het
Zcchc11 G A 4: 108,550,728 R1398H probably damaging Het
Zfp280d T C 9: 72,322,571 C362R probably damaging Het
Other mutations in Rin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Rin1 APN 19 5051376 missense probably benign 0.43
IGL01750:Rin1 APN 19 5052036 missense possibly damaging 0.74
IGL02828:Rin1 APN 19 5053090 missense possibly damaging 0.82
IGL02867:Rin1 APN 19 5053170 missense probably damaging 1.00
IGL02879:Rin1 APN 19 5051355 missense probably damaging 0.99
IGL03055:Rin1 UTSW 19 5053159 missense probably benign
R0193:Rin1 UTSW 19 5052652 missense probably damaging 0.96
R1174:Rin1 UTSW 19 5055203 missense probably benign 0.02
R1712:Rin1 UTSW 19 5055143 missense probably benign 0.00
R2656:Rin1 UTSW 19 5052176 missense probably damaging 1.00
R3930:Rin1 UTSW 19 5052974 missense probably benign 0.14
R4704:Rin1 UTSW 19 5054990 missense probably damaging 1.00
R5326:Rin1 UTSW 19 5052624 missense probably damaging 1.00
R6778:Rin1 UTSW 19 5054886 missense probably damaging 1.00
R7107:Rin1 UTSW 19 5050773 unclassified probably benign
R7391:Rin1 UTSW 19 5050860 start codon destroyed probably null 0.99
R7535:Rin1 UTSW 19 5052536 missense probably benign 0.01
Posted On2012-12-06