Incidental Mutation 'IGL00430:Rin1'
ID5695
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 #IGL00430
Quality Score
Status
Chromosome19
Chromosomal Location5050481-5057071 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 5051376 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 96 (N96S)
Ref Sequence ENSEMBL: ENSMUSP00000025818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025818] [ENSMUST00000116567] [ENSMUST00000224178] [ENSMUST00000224288] [ENSMUST00000224363] [ENSMUST00000225427] [ENSMUST00000225799]
Predicted Effect probably benign
Transcript: ENSMUST00000025818
AA Change: N96S

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000025818
Gene: ENSMUSG00000024883
AA Change: N96S

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
AA Change: N28S

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225203
Predicted Effect probably benign
Transcript: ENSMUST00000225427
AA Change: N96S

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G A 19: 43,784,202 S17N probably benign Het
Atp2a1 C T 7: 126,447,216 W72* probably null Het
Baz2b C A 2: 59,912,795 A1611S probably benign Het
Cep290 A T 10: 100,508,724 I475L probably benign Het
Cpsf4l C T 11: 113,709,218 probably benign Het
Crispld2 A T 8: 120,033,560 R408S probably damaging Het
Cyp3a25 A T 5: 145,993,360 M145K probably damaging Het
Dexi A T 16: 10,542,445 D82E probably benign Het
Epyc A T 10: 97,681,147 K282N probably benign Het
Ercc6l2 G T 13: 63,858,319 V588F probably damaging Het
Galnt14 C T 17: 73,494,232 V532I probably damaging Het
Grk1 C A 8: 13,413,128 Y383* probably null Het
Gtpbp1 G T 15: 79,719,136 G609W possibly damaging Het
Hadha C T 5: 30,120,147 V682M possibly damaging Het
Igdcc3 A C 9: 65,182,019 D499A probably damaging Het
Kcna10 T G 3: 107,194,728 V225G probably damaging Het
Kcnh4 T C 11: 100,757,654 T75A possibly damaging Het
Lama4 A G 10: 39,045,704 E407G possibly damaging Het
Mrpl13 T A 15: 55,540,201 K105N probably damaging Het
Pcdhb2 A T 18: 37,296,463 probably null Het
Pck2 C T 14: 55,543,944 A209V probably benign Het
Plce1 A G 19: 38,725,017 E1243G probably damaging Het
Plekhh2 A T 17: 84,521,775 M25L probably benign Het
Rasef G A 4: 73,771,425 Q117* probably null Het
Rbm14 A G 19: 4,811,426 V28A probably damaging Het
Rcan2 A G 17: 43,836,384 T38A probably benign Het
Rrp12 A G 19: 41,877,334 probably null Het
Slco1a6 A T 6: 142,101,651 C404* probably null Het
St6galnac3 T C 3: 153,509,403 N38S probably benign Het
Top2b T A 14: 16,422,692 S1376R probably benign Het
Trip11 T C 12: 101,886,147 I553V probably benign Het
Trip12 T G 1: 84,763,861 H559P probably damaging Het
Uggt2 A T 14: 119,026,429 L1063* probably null Het
Zmym6 T A 4: 127,101,949 C269* probably null Het
Other mutations in Rin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Rin1 APN 19 5052410 missense probably benign 0.00
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
R7818:Rin1 UTSW 19 5052191 missense probably benign 0.03
R8037:Rin1 UTSW 19 5051824 missense probably damaging 1.00
R8336:Rin1 UTSW 19 5054985 missense possibly damaging 0.75
R8543:Rin1 UTSW 19 5052072 missense probably damaging 1.00
Posted On2012-04-20