Incidental Mutation 'IGL02719:Snx19'
ID 304912
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snx19
Ensembl Gene ENSMUSG00000031993
Gene Name sorting nexin 19
Synonyms 3526401K03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # IGL02719
Quality Score
Status
Chromosome 9
Chromosomal Location 30338404-30378029 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30343556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 572 (N572S)
Ref Sequence ENSEMBL: ENSMUSP00000131895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164099] [ENSMUST00000216545]
AlphaFold Q6P4T1
Predicted Effect possibly damaging
Transcript: ENSMUST00000164099
AA Change: N572S

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000131895
Gene: ENSMUSG00000031993
AA Change: N572S

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 probably benign
Transcript: ENSMUST00000216545
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216552
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A G 5: 3,632,150 (GRCm39) D160G probably damaging Het
Aak1 A G 6: 86,936,152 (GRCm39) probably benign Het
Anp32e A G 3: 95,845,224 (GRCm39) probably benign Het
Aspscr1 T A 11: 120,568,405 (GRCm39) L61Q probably damaging Het
Btrc A G 19: 45,491,589 (GRCm39) I89M probably damaging Het
Ccdc175 G A 12: 72,221,899 (GRCm39) T141M probably damaging Het
Cep70 G A 9: 99,157,775 (GRCm39) V225I probably damaging Het
Cilk1 A G 9: 78,047,301 (GRCm39) E67G probably damaging Het
Col4a1 T C 8: 11,281,950 (GRCm39) probably benign Het
Cpne1 T C 2: 155,920,137 (GRCm39) Y214C probably damaging Het
Crtc3 T C 7: 80,268,406 (GRCm39) probably null Het
Cul2 C T 18: 3,434,052 (GRCm39) A683V probably damaging Het
Ddx47 A G 6: 134,994,114 (GRCm39) N131D probably benign Het
Dnah7b T G 1: 46,138,768 (GRCm39) probably benign Het
Dnai2 T C 11: 114,642,737 (GRCm39) L446P probably damaging Het
Ergic2 T C 6: 148,106,317 (GRCm39) T58A possibly damaging Het
Erlin2 A G 8: 27,519,703 (GRCm39) probably benign Het
Fermt2 T C 14: 45,742,113 (GRCm39) T78A probably damaging Het
Flg2 G T 3: 93,127,438 (GRCm39) G97* probably null Het
Gm7356 A G 17: 14,221,537 (GRCm39) I164T probably damaging Het
Gucy1a2 T A 9: 3,894,719 (GRCm39) probably benign Het
Heatr5b C T 17: 79,122,969 (GRCm39) R670H probably damaging Het
Hspa4l T C 3: 40,727,090 (GRCm39) V476A possibly damaging Het
Itpkc A T 7: 26,927,475 (GRCm39) D146E possibly damaging Het
Kcnk3 T C 5: 30,779,324 (GRCm39) F125L probably damaging Het
Kif12 T A 4: 63,086,033 (GRCm39) M411L probably benign Het
Krtap24-1 T C 16: 88,409,094 (GRCm39) S11G probably benign Het
Lilra6 A T 7: 3,915,991 (GRCm39) H289Q possibly damaging Het
Musk A C 4: 58,356,496 (GRCm39) N469H probably benign Het
Myom1 A G 17: 71,413,349 (GRCm39) probably benign Het
Nagpa A G 16: 5,019,357 (GRCm39) V46A possibly damaging Het
Or4k37 T A 2: 111,159,590 (GRCm39) Y275* probably null Het
Or5h25 T A 16: 58,930,536 (GRCm39) T146S probably benign Het
Or8g17 T C 9: 38,930,312 (GRCm39) N175S probably benign Het
Parp6 T A 9: 59,538,021 (GRCm39) V222E probably benign Het
Pde3b T A 7: 114,105,483 (GRCm39) S472T probably damaging Het
Peak1 A G 9: 56,134,490 (GRCm39) S1314P probably damaging Het
Pgc A G 17: 48,039,792 (GRCm39) Y62C probably damaging Het
Pitpnm2 A G 5: 124,278,665 (GRCm39) C189R probably damaging Het
Pla2g15 G T 8: 106,886,828 (GRCm39) Q106H probably benign Het
Pla2g4c T A 7: 13,064,019 (GRCm39) S93T probably damaging Het
Rbks G T 5: 31,809,145 (GRCm39) probably benign Het
Retsat A G 6: 72,580,642 (GRCm39) T207A possibly damaging Het
Slc25a32 A G 15: 38,963,300 (GRCm39) Y174H probably benign Het
Slc35f2 T A 9: 53,717,026 (GRCm39) probably benign Het
Sos2 A G 12: 69,663,958 (GRCm39) Y476H probably benign Het
Ssh2 A T 11: 77,316,413 (GRCm39) N296I probably damaging Het
Sspo G T 6: 48,459,601 (GRCm39) R3320L probably benign Het
Synj2 A G 17: 6,047,192 (GRCm39) I166V probably benign Het
Tpp2 T C 1: 43,979,391 (GRCm39) V96A probably benign Het
Vmn2r3 A T 3: 64,183,031 (GRCm39) W223R probably damaging Het
Wdr17 T C 8: 55,146,089 (GRCm39) probably null Het
Zfr2 T A 10: 81,080,546 (GRCm39) C407S probably damaging Het
Other mutations in Snx19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Snx19 APN 9 30,340,380 (GRCm39) missense possibly damaging 0.92
IGL00498:Snx19 APN 9 30,340,233 (GRCm39) missense possibly damaging 0.92
IGL00718:Snx19 APN 9 30,343,622 (GRCm39) missense probably damaging 1.00
IGL00902:Snx19 APN 9 30,340,028 (GRCm39) missense possibly damaging 0.90
IGL01433:Snx19 APN 9 30,340,067 (GRCm39) missense possibly damaging 0.93
IGL01668:Snx19 APN 9 30,339,119 (GRCm39) missense probably benign
IGL01732:Snx19 APN 9 30,373,649 (GRCm39) missense probably damaging 1.00
IGL01767:Snx19 APN 9 30,374,560 (GRCm39) missense possibly damaging 0.95
IGL02638:Snx19 APN 9 30,343,660 (GRCm39) missense possibly damaging 0.52
IGL02718:Snx19 APN 9 30,343,556 (GRCm39) missense possibly damaging 0.72
IGL02723:Snx19 APN 9 30,343,556 (GRCm39) missense possibly damaging 0.72
IGL02724:Snx19 APN 9 30,343,556 (GRCm39) missense possibly damaging 0.72
IGL02725:Snx19 APN 9 30,343,556 (GRCm39) missense possibly damaging 0.72
IGL02892:Snx19 APN 9 30,339,660 (GRCm39) missense probably damaging 1.00
IGL03061:Snx19 APN 9 30,344,928 (GRCm39) missense probably damaging 0.99
IGL03402:Snx19 APN 9 30,351,430 (GRCm39) missense possibly damaging 0.89
R0125:Snx19 UTSW 9 30,351,515 (GRCm39) missense probably damaging 1.00
R0133:Snx19 UTSW 9 30,339,912 (GRCm39) missense possibly damaging 0.94
R0196:Snx19 UTSW 9 30,344,683 (GRCm39) missense probably damaging 1.00
R0423:Snx19 UTSW 9 30,347,133 (GRCm39) missense probably damaging 1.00
R0635:Snx19 UTSW 9 30,340,107 (GRCm39) missense probably damaging 1.00
R0635:Snx19 UTSW 9 30,340,106 (GRCm39) missense probably damaging 1.00
R1068:Snx19 UTSW 9 30,340,314 (GRCm39) missense probably damaging 0.99
R1570:Snx19 UTSW 9 30,339,639 (GRCm39) missense probably damaging 1.00
R1727:Snx19 UTSW 9 30,344,662 (GRCm39) missense probably damaging 1.00
R1895:Snx19 UTSW 9 30,343,620 (GRCm39) missense probably damaging 1.00
R1907:Snx19 UTSW 9 30,344,872 (GRCm39) missense probably damaging 0.99
R1946:Snx19 UTSW 9 30,343,620 (GRCm39) missense probably damaging 1.00
R1989:Snx19 UTSW 9 30,339,404 (GRCm39) missense possibly damaging 0.93
R2029:Snx19 UTSW 9 30,340,296 (GRCm39) missense probably benign 0.01
R2914:Snx19 UTSW 9 30,344,828 (GRCm39) unclassified probably benign
R3880:Snx19 UTSW 9 30,373,688 (GRCm39) missense probably damaging 1.00
R4223:Snx19 UTSW 9 30,339,744 (GRCm39) missense possibly damaging 0.95
R4415:Snx19 UTSW 9 30,348,779 (GRCm39) missense probably damaging 0.99
R4438:Snx19 UTSW 9 30,339,895 (GRCm39) missense probably benign 0.01
R4484:Snx19 UTSW 9 30,339,192 (GRCm39) missense probably benign 0.01
R4585:Snx19 UTSW 9 30,351,491 (GRCm39) missense probably damaging 1.00
R4765:Snx19 UTSW 9 30,351,453 (GRCm39) missense probably damaging 1.00
R4771:Snx19 UTSW 9 30,344,934 (GRCm39) missense probably damaging 1.00
R4922:Snx19 UTSW 9 30,348,763 (GRCm39) missense probably benign 0.25
R5096:Snx19 UTSW 9 30,340,082 (GRCm39) missense probably benign 0.40
R5464:Snx19 UTSW 9 30,339,269 (GRCm39) missense possibly damaging 0.54
R6469:Snx19 UTSW 9 30,339,039 (GRCm39) missense possibly damaging 0.50
R6886:Snx19 UTSW 9 30,340,231 (GRCm39) missense probably damaging 1.00
R6988:Snx19 UTSW 9 30,340,231 (GRCm39) missense probably damaging 1.00
R7131:Snx19 UTSW 9 30,339,189 (GRCm39) missense probably damaging 1.00
R7268:Snx19 UTSW 9 30,351,473 (GRCm39) missense probably damaging 1.00
R7772:Snx19 UTSW 9 30,340,221 (GRCm39) missense probably damaging 0.99
R8087:Snx19 UTSW 9 30,375,698 (GRCm39) missense probably benign
R8211:Snx19 UTSW 9 30,348,761 (GRCm39) missense probably benign
R8283:Snx19 UTSW 9 30,374,522 (GRCm39) missense possibly damaging 0.56
R9000:Snx19 UTSW 9 30,375,619 (GRCm39) missense unknown
R9383:Snx19 UTSW 9 30,347,196 (GRCm39) missense probably damaging 1.00
R9436:Snx19 UTSW 9 30,374,602 (GRCm39) missense possibly damaging 0.55
R9782:Snx19 UTSW 9 30,340,172 (GRCm39) missense probably benign 0.00
X0019:Snx19 UTSW 9 30,348,662 (GRCm39) missense probably damaging 1.00
X0024:Snx19 UTSW 9 30,339,017 (GRCm39) missense probably benign 0.04
Posted On 2015-04-16