Incidental Mutation 'IGL01677:Sort1'
ID103662
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sort1
Ensembl Gene ENSMUSG00000068747
Gene Namesortilin 1
Synonymssortilin, 2900053A11Rik, Ntsr3, Ntr3, neurotensin receptor 3
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.795) question?
Stock #IGL01677
Quality Score
Status
Chromosome3
Chromosomal Location108284082-108361511 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 108344885 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 466 (I466T)
Ref Sequence ENSEMBL: ENSMUSP00000123564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102632] [ENSMUST00000135636]
Predicted Effect probably benign
Transcript: ENSMUST00000102632
AA Change: I466T

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000099692
Gene: ENSMUSG00000068747
AA Change: I466T

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
low complexity region 33 47 N/A INTRINSIC
low complexity region 59 79 N/A INTRINSIC
VPS10 131 743 N/A SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135636
AA Change: I466T

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000123564
Gene: ENSMUSG00000068747
AA Change: I466T

DomainStartEndE-ValueType
VPS10 1 218 2.3e-5 SMART
transmembrane domain 262 284 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the VPS10-related sortilin family of proteins. The encoded preproprotein is proteolytically processed by furin to generate the mature receptor. This receptor plays a role in the trafficking of different proteins to either the cell surface, or subcellular compartments such as lysosomes and endosomes. Expression levels of this gene may influence the risk of myocardial infarction in human patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a null allele exhbit increased protection from age- and injury-related neuron lose. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap3 T A 18: 37,996,647 M154L probably benign Het
Asph T C 4: 9,607,853 D131G probably damaging Het
Cdc45 G A 16: 18,787,000 T429I probably benign Het
Cnga3 C T 1: 37,244,918 R101* probably null Het
Cp T C 3: 19,966,434 I197T probably damaging Het
Cyp4b1 T C 4: 115,636,282 D77G probably damaging Het
Dnah5 G T 15: 28,367,782 W2771L probably damaging Het
Fas G A 19: 34,318,818 V177I probably benign Het
Gde1 A G 7: 118,694,487 probably benign Het
Hyou1 T C 9: 44,382,012 S223P probably benign Het
Klre1 G T 6: 129,582,043 G75C probably damaging Het
Lama1 T C 17: 67,779,148 C1461R probably benign Het
Map3k7 T C 4: 32,017,158 probably benign Het
Mrpl18 A T 17: 12,911,688 I178N probably damaging Het
Nckap1 T C 2: 80,530,297 T503A probably benign Het
Olfr134 T C 17: 38,175,875 S264P probably damaging Het
Olfr654 T C 7: 104,588,145 S114P probably damaging Het
Olfr669 T C 7: 104,938,645 S40P probably benign Het
Olfr846 T C 9: 19,361,145 D70G probably damaging Het
Orc1 C T 4: 108,604,585 T593I probably damaging Het
Phtf1 T A 3: 103,998,783 S594T probably damaging Het
Ppp1r13b A T 12: 111,843,665 D78E probably benign Het
Proz T C 8: 13,065,238 probably benign Het
Rtcb C A 10: 85,943,929 Q292H probably damaging Het
Sept11 A T 5: 93,148,533 T95S probably damaging Het
Slc12a1 A G 2: 125,178,149 probably benign Het
Slc45a3 T A 1: 131,978,970 I394N probably damaging Het
Slc8a1 T C 17: 81,648,607 H334R probably damaging Het
Susd2 A T 10: 75,639,431 V515E possibly damaging Het
Ttll3 A G 6: 113,412,984 R778G probably benign Het
Ubfd1 T A 7: 122,071,699 probably benign Het
Utrn G A 10: 12,744,157 T248M probably damaging Het
Vmn2r11 T G 5: 109,053,957 D227A possibly damaging Het
Other mutations in Sort1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Sort1 APN 3 108356307 missense probably damaging 0.99
IGL02532:Sort1 APN 3 108325720 missense probably benign 0.44
IGL03354:Sort1 APN 3 108348706 missense probably benign 0.00
R0266:Sort1 UTSW 3 108344931 missense probably benign 0.09
R0277:Sort1 UTSW 3 108324592 splice site probably benign
R0559:Sort1 UTSW 3 108356579 missense probably damaging 1.00
R0597:Sort1 UTSW 3 108338910 missense probably damaging 1.00
R0624:Sort1 UTSW 3 108348630 missense probably damaging 1.00
R1803:Sort1 UTSW 3 108325699 missense probably damaging 1.00
R1872:Sort1 UTSW 3 108340695 missense probably benign 0.01
R1986:Sort1 UTSW 3 108345727 missense possibly damaging 0.71
R2130:Sort1 UTSW 3 108351686 missense probably benign
R2131:Sort1 UTSW 3 108351686 missense probably benign
R2133:Sort1 UTSW 3 108351686 missense probably benign
R2362:Sort1 UTSW 3 108346665 missense possibly damaging 0.89
R3436:Sort1 UTSW 3 108337807 missense probably damaging 1.00
R3548:Sort1 UTSW 3 108337909 missense possibly damaging 0.83
R3700:Sort1 UTSW 3 108356639 nonsense probably null
R4496:Sort1 UTSW 3 108310145 missense probably benign 0.17
R4616:Sort1 UTSW 3 108355541 missense possibly damaging 0.66
R4632:Sort1 UTSW 3 108346678 missense probably damaging 1.00
R4749:Sort1 UTSW 3 108356323 nonsense probably null
R4994:Sort1 UTSW 3 108328069 missense probably damaging 0.99
R5187:Sort1 UTSW 3 108324676 missense probably damaging 1.00
R5753:Sort1 UTSW 3 108345774 missense probably damaging 1.00
R6019:Sort1 UTSW 3 108357233 missense possibly damaging 0.77
R6262:Sort1 UTSW 3 108310211 missense probably damaging 1.00
R7369:Sort1 UTSW 3 108351680 missense probably damaging 1.00
Posted On2014-01-21