Incidental Mutation 'IGL00339:Snx19'
ID6184
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snx19
Ensembl Gene ENSMUSG00000031993
Gene Namesorting nexin 19
Synonyms3526401K03Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.114) question?
Stock #IGL00339
Quality Score
Status
Chromosome9
Chromosomal Location30427108-30466733 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 30429084 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 506 (V506G)
Ref Sequence ENSEMBL: ENSMUSP00000131895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164099]
Predicted Effect possibly damaging
Transcript: ENSMUST00000164099
AA Change: V506G

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131895
Gene: ENSMUSG00000031993
AA Change: V506G

DomainStartEndE-ValueType
transmembrane domain 29 46 N/A INTRINSIC
transmembrane domain 51 73 N/A INTRINSIC
Pfam:PXA 96 269 2.9e-43 PFAM
low complexity region 324 335 N/A INTRINSIC
low complexity region 371 385 N/A INTRINSIC
low complexity region 504 528 N/A INTRINSIC
PX 533 664 1.83e-24 SMART
Pfam:Nexin_C 843 951 1.9e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216552
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217174
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Islet antigen-2 (IA-2) is an autoantigen in type 1 diabetes and plays a role in insulin secretion. IA-2 is found in dense-core secretory vesicles and interacts with the product of this gene, a sorting nexin. In mouse pancreatic beta-cells, the encoded protein influenced insulin secretion by stabilizing the number of dense-core secretory vesicles. [provided by RefSeq, Dec 2016]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,167,119 M707V probably benign Het
Amz2 A T 11: 109,434,021 I244F probably damaging Het
Atp4a T C 7: 30,713,204 C112R possibly damaging Het
Axin2 A G 11: 108,923,990 T235A probably benign Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
Brd8 C A 18: 34,609,883 G310* probably null Het
Capn11 A T 17: 45,643,767 I148N probably damaging Het
Caskin2 A G 11: 115,803,599 L392P probably benign Het
Cep72 C T 13: 74,062,268 probably benign Het
Chst11 A G 10: 83,191,633 Y298C possibly damaging Het
Cyp21a1 C T 17: 34,804,134 probably null Het
F830045P16Rik T C 2: 129,460,529 D381G probably damaging Het
Fnip2 T G 3: 79,515,155 H106P probably benign Het
Fosl1 T A 19: 5,450,302 I83K probably damaging Het
Foxk2 C T 11: 121,299,734 T567M probably damaging Het
Frmd4a A G 2: 4,594,714 N208S probably benign Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Heatr5a A T 12: 51,888,901 I1634N probably damaging Het
Hspg2 C T 4: 137,539,195 T1889M probably damaging Het
Kcnh6 C T 11: 106,019,019 P457S probably damaging Het
Kcnk18 G T 19: 59,235,070 A216S probably benign Het
Klhl42 A G 6: 147,101,733 Y335C probably damaging Het
Lrguk C T 6: 34,043,429 P36L probably damaging Het
Mmp1b T A 9: 7,368,304 R443S probably benign Het
Ncapd3 T C 9: 27,052,353 S501P probably benign Het
Neurl4 C T 11: 69,904,587 R422W probably damaging Het
Nol4 T C 18: 22,823,412 S311G probably benign Het
Oaf T C 9: 43,224,016 D155G probably damaging Het
Oas1g T A 5: 120,886,046 K67* probably null Het
Olfr365 T C 2: 37,201,597 S119P probably damaging Het
Olfr434 T G 6: 43,217,848 L312V probably benign Het
Rims2 C A 15: 39,459,615 T735K probably benign Het
Sema4f T C 6: 82,937,174 T68A probably benign Het
Sp140 T A 1: 85,641,822 C107* probably null Het
Sspo G A 6: 48,483,746 probably benign Het
Syce1l T G 8: 113,649,502 L28R probably damaging Het
Tgm3 G A 2: 130,038,413 V380M probably damaging Het
Unc5a T A 13: 54,995,815 V104D possibly damaging Het
Other mutations in Snx19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00498:Snx19 APN 9 30428937 missense possibly damaging 0.92
IGL00718:Snx19 APN 9 30432326 missense probably damaging 1.00
IGL00902:Snx19 APN 9 30428732 missense possibly damaging 0.90
IGL01433:Snx19 APN 9 30428771 missense possibly damaging 0.93
IGL01668:Snx19 APN 9 30427823 missense probably benign
IGL01732:Snx19 APN 9 30462353 missense probably damaging 1.00
IGL01767:Snx19 APN 9 30463264 missense possibly damaging 0.95
IGL02638:Snx19 APN 9 30432364 missense possibly damaging 0.52
IGL02718:Snx19 APN 9 30432260 missense possibly damaging 0.72
IGL02719:Snx19 APN 9 30432260 missense possibly damaging 0.72
IGL02723:Snx19 APN 9 30432260 missense possibly damaging 0.72
IGL02724:Snx19 APN 9 30432260 missense possibly damaging 0.72
IGL02725:Snx19 APN 9 30432260 missense possibly damaging 0.72
IGL02892:Snx19 APN 9 30428364 missense probably damaging 1.00
IGL03061:Snx19 APN 9 30433632 missense probably damaging 0.99
IGL03402:Snx19 APN 9 30440134 missense possibly damaging 0.89
R0125:Snx19 UTSW 9 30440219 missense probably damaging 1.00
R0133:Snx19 UTSW 9 30428616 missense possibly damaging 0.94
R0196:Snx19 UTSW 9 30433387 missense probably damaging 1.00
R0423:Snx19 UTSW 9 30435837 missense probably damaging 1.00
R0635:Snx19 UTSW 9 30428810 missense probably damaging 1.00
R0635:Snx19 UTSW 9 30428811 missense probably damaging 1.00
R1068:Snx19 UTSW 9 30429018 missense probably damaging 0.99
R1570:Snx19 UTSW 9 30428343 missense probably damaging 1.00
R1727:Snx19 UTSW 9 30433366 missense probably damaging 1.00
R1895:Snx19 UTSW 9 30432324 missense probably damaging 1.00
R1907:Snx19 UTSW 9 30433576 missense probably damaging 0.99
R1946:Snx19 UTSW 9 30432324 missense probably damaging 1.00
R1989:Snx19 UTSW 9 30428108 missense possibly damaging 0.93
R2029:Snx19 UTSW 9 30429000 missense probably benign 0.01
R2914:Snx19 UTSW 9 30433532 unclassified probably benign
R3880:Snx19 UTSW 9 30462392 missense probably damaging 1.00
R4223:Snx19 UTSW 9 30428448 missense possibly damaging 0.95
R4415:Snx19 UTSW 9 30437483 missense probably damaging 0.99
R4438:Snx19 UTSW 9 30428599 missense probably benign 0.01
R4484:Snx19 UTSW 9 30427896 missense probably benign 0.01
R4585:Snx19 UTSW 9 30440195 missense probably damaging 1.00
R4765:Snx19 UTSW 9 30440157 missense probably damaging 1.00
R4771:Snx19 UTSW 9 30433638 missense probably damaging 1.00
R4922:Snx19 UTSW 9 30437467 missense probably benign 0.25
R5096:Snx19 UTSW 9 30428786 missense probably benign 0.40
R5464:Snx19 UTSW 9 30427973 missense possibly damaging 0.54
R6469:Snx19 UTSW 9 30427743 missense possibly damaging 0.50
R6886:Snx19 UTSW 9 30428935 missense probably damaging 1.00
R6988:Snx19 UTSW 9 30428935 missense probably damaging 1.00
R7131:Snx19 UTSW 9 30427893 missense probably damaging 1.00
R7268:Snx19 UTSW 9 30440177 missense probably damaging 1.00
R7772:Snx19 UTSW 9 30428925 missense probably damaging 0.99
X0019:Snx19 UTSW 9 30437366 missense probably damaging 1.00
X0024:Snx19 UTSW 9 30427721 missense probably benign 0.04
Posted On2012-04-20