Incidental Mutation 'R5096:Snx19'
ID 388047
Institutional Source Beutler Lab
Gene Symbol Snx19
Ensembl Gene ENSMUSG00000031993
Gene Name sorting nexin 19
Synonyms 3526401K03Rik
MMRRC Submission 042685-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R5096 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 30338404-30378029 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30340082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 407 (C407S)
Ref Sequence ENSEMBL: ENSMUSP00000131895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164099]
AlphaFold Q6P4T1
Predicted Effect probably benign
Transcript: ENSMUST00000164099
AA Change: C407S

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000131895
Gene: ENSMUSG00000031993
AA Change: C407S

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
Meta Mutation Damage Score 0.0595 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.6%
Validation Efficiency 95% (61/64)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 A T 14: 54,916,679 (GRCm39) probably benign Het
Adar T A 3: 89,654,598 (GRCm39) *728C probably null Het
Ap3b1 A G 13: 94,616,357 (GRCm39) R753G unknown Het
Atp9b C T 18: 80,805,399 (GRCm39) V720I probably benign Het
AY358078 A C 14: 52,063,575 (GRCm39) D407A probably benign Het
Ccdc185 A G 1: 182,576,354 (GRCm39) S112P possibly damaging Het
Cir1 A G 2: 73,134,105 (GRCm39) S155P probably damaging Het
Colq C T 14: 31,274,911 (GRCm39) E76K possibly damaging Het
Cthrc1 T A 15: 38,947,815 (GRCm39) I104N probably damaging Het
D930020B18Rik A T 10: 121,503,709 (GRCm39) I92L probably benign Het
Eif3i C T 4: 129,494,237 (GRCm39) E21K probably damaging Het
Fam114a1 T A 5: 65,137,234 (GRCm39) M59K probably benign Het
Fam163b A G 2: 27,002,761 (GRCm39) S79P probably benign Het
Fam181b T G 7: 92,730,452 (GRCm39) probably benign Het
Fsip2 G A 2: 82,821,460 (GRCm39) S5731N probably benign Het
Fzd9 C T 5: 135,278,713 (GRCm39) V391I probably damaging Het
Gbp5 A G 3: 142,207,122 (GRCm39) D97G probably damaging Het
Gm10715 T C 9: 3,038,157 (GRCm39) probably benign Het
Grhl1 A T 12: 24,653,049 (GRCm39) K418M probably damaging Het
H2-Q4 T A 17: 35,598,689 (GRCm39) probably benign Het
Hmcn1 C A 1: 150,486,420 (GRCm39) A4329S probably damaging Het
Hspa8 T C 9: 40,714,197 (GRCm39) probably benign Het
Ica1l T C 1: 60,067,313 (GRCm39) T26A possibly damaging Het
Ifi209 T A 1: 173,472,300 (GRCm39) N380K probably benign Het
Inpp5e G T 2: 26,289,537 (GRCm39) N482K probably damaging Het
Iqsec3 C T 6: 121,363,657 (GRCm39) V866M probably damaging Het
Kbtbd2 A G 6: 56,756,260 (GRCm39) V492A probably benign Het
Kcnb2 A G 1: 15,781,068 (GRCm39) R647G probably benign Het
Lcmt1 T G 7: 123,000,691 (GRCm39) V75G probably damaging Het
Lrp4 A G 2: 91,316,137 (GRCm39) I752V possibly damaging Het
Mmp17 C A 5: 129,682,627 (GRCm39) P422Q probably damaging Het
Myo3a A T 2: 22,464,254 (GRCm39) H165L probably benign Het
Nos3 C T 5: 24,576,955 (GRCm39) T494I probably damaging Het
Or1ak2 T C 2: 36,827,815 (GRCm39) V228A possibly damaging Het
Or4p22 C T 2: 88,317,646 (GRCm39) T190I possibly damaging Het
Or51q1c T C 7: 103,652,667 (GRCm39) Y68H probably benign Het
Or8u8 A G 2: 86,012,276 (GRCm39) Y60H probably damaging Het
Pkn2 A C 3: 142,545,092 (GRCm39) V27G probably damaging Het
Scube2 T C 7: 109,398,451 (GRCm39) probably benign Het
Skint7 A G 4: 111,839,152 (GRCm39) I149V probably damaging Het
Smc4 T A 3: 68,928,612 (GRCm39) I412K probably damaging Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Sytl2 T A 7: 90,025,290 (GRCm39) I426N possibly damaging Het
Tbce A T 13: 14,203,990 (GRCm39) probably benign Het
Tdpoz2 T C 3: 93,559,819 (GRCm39) E51G possibly damaging Het
Tmem221 A G 8: 72,011,353 (GRCm39) L34P probably damaging Het
Tmem92 T C 11: 94,669,862 (GRCm39) T90A probably benign Het
Tpr A G 1: 150,321,953 (GRCm39) D42G probably damaging Het
Wt1 A G 2: 104,973,470 (GRCm39) T237A 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
IGL02719: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
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
Predicted Primers PCR Primer
(F):5'- AAGCTGTAGAGGGAGATTTGCC -3'
(R):5'- GCTGTAAGAGAGGTGTCATCTCC -3'

Sequencing Primer
(F):5'- TGCCTGGGATGCTCGAAG -3'
(R):5'- AAGAGAGGTGTCATCTCCTTGCTC -3'
Posted On 2016-06-06